Diko : en:incomplete penetrance in some families

en:incomplete penetrance in some families

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C4228283

Associations d'idées

[F]

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1000

en:two types, type i or type a (classical cockayne syndrome, 216400) and type ii or type b (severe cockayne syndrome, 133540)

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en:onset before age 2 years

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en:significant phenotypic variability

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en:see (608328) for a phenotypically similar autosomal dominant form

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en:sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 (613289) and atxn8-opposite strand (603680)

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en:responsive to thiazide diuretics

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en:renal anomalies are not always present

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en:presents with 4 types of painful episodes - (1) birth crisis, babies are born red and stiff (2) rectal crisis, triggered by defecation or emotional factors (3) ocular crisis (4) mandibular crisis, triggered by eating or yawning

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en:poor response to levodopa treatment

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en:phenotypic similarities to costello syndrome (218040)

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en:onset of vision loss in young adulthood (<20 years)

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en:onset of seizures in first 6 months of life

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en:onset in first decade

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en:onset in early childhood to puberty

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en:one male patient has been reported (last curated september 2015)

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en:some patients with advanced loss of vision have normal eog

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en:one family had normal cognitive and neurologic development

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en:multiple prenatal fractures

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en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance

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en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities

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en:dysmorphic facial features reported in 1 family

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en:death often occurs in childhood

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en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity

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en:cases reported include de novo deletions, interstitial deletions, and translocations involving only the terminal band of the reciprocal chromosome

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en:brain mri abnormalities show improvement with time

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en:age at onset 8 to 55 years (mean 40 years)

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en:adult-onset is referred to as small fiber neuropathy

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en:acute encephalopathic episodes may occur

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en:2% due to paternal uniparental disomy of 15q11.2-q13

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en:two patients with heterozygous prickle1 mutations and limited clinical and familial details have been reported (last curated january 2015)

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en:some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used

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en:onset in second decade, but sometimes earlier

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en:splenectomy increases thrombotic risk in these patients

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en:flares triggered by viral infection, overexertion, stress

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en:treatment with enzyme replacement therapy

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en:symptoms precipitated by sudden movements

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en:some patients report cyclical changes in severity of symptoms

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en:seizures may be refractory

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en:onset in first decade (birth to age 5 years)

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en:onset in early childhood (infancy to age 7 years)

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en:one family reported with piezo2 mutation (last curated january 2015)

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en:one consanguineous saudi family has been reported (last curated october 2014)

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en:one consanguineous pakistani family has been reported (last curated september 2014)

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en:medullary thyroid cancer is aggressive and can occur in childhood

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en:loss initially affects mid and high frequencies

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en:liver involvement can range from mild to severe

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en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals

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en:group c is relatively benign

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en:the frequency is estimated at 1/20,000 to 1/50,000 births

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en:five reported patients, all boys (as of july 2009)

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en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), autosomal dominant osteosclerosis (144750), type i osteopetrosis (607634)

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en:early-onset severe renal disease

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en:three families have been reported (as of december 2011)

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en:variable age at onset, mostly in third decade (range teenage years to fourth decade)

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en:variable severity between patients and between eyes (in some patients)

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en:allelic to cowden disease (158350), which has a later age at onset

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en:tumors usually develop between 40 and 60 years of age

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en:all cases occur in old order amish, lancaster county, pennsylvania

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en:caused by somatic mutations

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en:death due to respiratory failure or infection

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en:death usually occurs by 12 months of life

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en:benign trait

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en:death within 6 years after onset

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en:progressive disorder that may become stable in young adulthood

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en:possible x-linked inheritance

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en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death

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en:profound dementia and death usually occurs by age 50 years

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en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200)

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en:repeat tracts may expand as patient ages (somatic instability)

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en:stage ii, rapid developmental regression (onset 1-4 years)

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en:variable age at onset, from first decade to fourth or fifth decade of life

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en:service comment 59:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:age of onset between 6 and 45 years of age

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en:one report of brother and sister from nonconsanguineous parents

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en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns

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en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae

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en:one large 4-generation uruguayan family reported (last curated august 2014)

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en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous)

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en:mean age of diagnosis of uterine leiomyomas is 30 years

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en:later onset in females

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en:incidence ranges from 1 in 40,000 to 1 in 350,000 births

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en:hands clenched at birth but loosen in infancy

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en:endocrine and neurologic defects may become apparent later in life

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en:discordant phenotype among monozygotic twins has been reported

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en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015)

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en:death occurs 10 to 20 years after onset

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en:clinically resembles spinal muscular atrophy-1 (sma1, 253300)

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en:allelic to adult syndrome (103285), split hand/foot malformation 4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and limb-mammary syndrome (603543)

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en:affected males have normal pubertal development and are fertile

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en:all features are unilateral

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en:allelic disorder to spinal muscular atrophy type i (253300)

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en:two forms: iia (severe) and iib (mild)

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en:based on report of one 5-generation family (last curated december 2015)

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en:onset of symptoms in second to third decades of life

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en:death usually by age 10 years

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en:variable age of onset (first to third decades)

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en:usual onset before age 6 years and death by age 20

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en:three sibs in one consanguineous iranian family have been described (last curated march 2015)

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en:survival to 20 years in severe form

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en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features

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en:some patients report seasonal variation in symptoms

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en:see 177850 for description of heterozygous phenotype

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en:rarely reported in infants

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en:premature death may occur

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en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism

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en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms

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en:patients with null mutations in (ctsd) show a more severe phenotype with onset at birth ('congenital ncl') and early death within days

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en:variable age at onset (range infancy to late adulthood)

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en:onset in early childhood (infancy to 5 years)

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en:genetic heterogeneity, see ppnad2 (610475)

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en:female carriers may have hearing loss and/or subclinical peripheral neuropathy

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en:fetal death usually occurs

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en:fracture frequency constant through childhood, decreases after puberty

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en:frequency of attack, monthly - bimonthly

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en:x-linked recessive cytochrome b-negative cgd

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en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334)

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en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe

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en:incidence of 1 in 25,000 to 1 in 50,000 newborns

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en:late infantile onset 6-24 months

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en:males are more commonly affected than females

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en:meiotic origin >95% maternal, mostly meiosis i

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en:occurs in about 1 in 10,000 births

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en:presents at a later stage than sporadic wilms tumor

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en:onset usually in the first 4 years of life

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en:patients with total c4 deficiency are homozygous for double null c4 haplotype

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en:phenotypic similarities to noonan syndrome (163950)

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en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood

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en:psychiatric symptoms may be the presenting sign

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en:seizures, recurrent, refractory

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en:treatment with levodopa is not effective

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en:two pakistani families have been reported (last curated december 2012)

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en:onset of deafness and diabetes in adulthood

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en:onset usually in childhood (range infancy to late childhood)

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en:males are more severely affected

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en:onset in late twenties to thirties

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en:old order amish, african american, and french patients have been described

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en:nystagmus is often the presenting sign

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en:most patients have no bleeding abnormalities

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en:most cases are responsive to steroids

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en:many patients are asymptomatic

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en:early age of onset, usually less than 3 years

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en:clinical variability

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en:age at onset ranges from 16 years to 65 years

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en:adult onset (range 14 to 70 years)

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en:99+% of the mutations are fgfr3, g380r (134934.0001)

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en:medical director review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative

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en:variable age at onset (range from early childhood to mid-adult)

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en:type ii is adult-onset (kanzaki disease, 609242)

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en:death from stroke if untreated

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en:adams-stokes syndrome

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en:one patient has been reported (last curated november 2013)

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en:young-adult onset (18-30 years) of sensory ataxia

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en:adult onset - 100-1,000 repeats

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en:some features are variable, even within families

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en:partial or absent response to steroid treatment

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en:painful cramping following ischemic exercise test

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en:onset of hearing loss in childhood (range 7 to 13 years)

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en:onset late childhood

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en:onset in second decade

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en:type i onset at 8 to 15 months of age after normal development

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en:one lebanese family has been reported

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en:leg pain during childhood

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en:one family reported (last curated may 2013)

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en:allelic disorder to infantile-onset ascending spastic paralysis (iahsp, 607225)

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en:death may occur in the first decade

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en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration

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en:chromosome rearrangements have been reported

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en:majority of cases have bilateral involvement

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en:median onset of neurologic symptoms is 13 years (range 5 to 28)

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en:mild facial dysmorphism is associated with duplication of the flna gene

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en:most cases sporadic

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en:multiple congenital anomalies

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en:neurologic features are variable and not progressive

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en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years

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en:one six-generation family from northern china has been reported (last curated august 2015)

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en:one patient with normal psychomotor development has been reported

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en:one patient with limited clinical information has been reported (last curated october 2014)

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en:one large consanguineous baluchi family from the united arab emirates has been reported with limited clinical information (last curated august 2015)

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en:often reared as females until puberty

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en:occurs on right side in 75% of cases

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en:no peripheral signs of hypothyroidism

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en:mean age of onset 34 months

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en:major fluid shifts may occur in severe cases

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en:associated with increasing age

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en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan)

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en:incomplete penetrance in females

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en:group b patients die by 3 months of age

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en:good seizure control with medication

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en:flunarizine treatment may be beneficial

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en:family c had a milder phenotype with survival into adulthood

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en:allelic to cartilage-hair hypoplasia (250250)

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en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400)

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en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390)

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en:resource identifier:uri:pt:study:nom

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en:onset usually in first month of life

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en:onset of disease in fourth or fifth decade of life

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en:diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses

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en:positive family history in 12-33% patients

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en:genetic heterogeneity (see 166600)

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en:prevalence of sleepwalking up to 26% in childhood

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en:some patients show significant clinical improvement with riboflavin supplementation

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en:seizures resolve by 4 months of age

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en:present in infancy in all affected individuals

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en:oeis is an acronym for omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects

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en:obligatory heterozygotes are clinically unaffected

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en:neonatal onset

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en:male-to-female ratio 3 to 1

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en:patients with more severe phenotype have been reported with mutations in more than 1 lqts-related gene

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en:genetic heterogeneity (see 157640)

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en:trauma may accelerate symptoms

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en:fatal outcome if untreated

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en:progressive

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en:some affected family members are asymptomatic

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en:some patients are asymptomatic and diagnosed incidentally

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en:some patients with vitelliform macular dystrophy are homozygous or compound heterozygous for mutations in best1, with their heterozygous relatives showing milder forms of eye disease

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en:birth date:time stamp -- date and time:point in time:^patient:quantitative

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en:adult onset has been rarely reported

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en:death in infancy without bone marrow transplantation

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en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic

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en:incidence of all forms of cjd is 0.5 to 1.5 per million per year

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en:onset between 2 and 4 years of age

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en:initial cases reclassified as having schwartz-jampel syndrome (sjs1, 255800)

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en:isolated pulmonary a-v fistulas are typically associated with hereditary hemorrhagic telangiectasia (187300)

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en:many cases are sporadic, but somatic and germline mosaicism has been reported

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en:milder expression in female heterozygotes

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en:onset in late childhood/adolescence (approximately 15 years)

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en:onset of seizures before age 2 years

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en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes

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en:phenotype is classically defined as aplasia cutis and transverse limb defects

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en:precipitated by fever

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en:homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy'

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en:if onset of diabetes is before age 25, the diagnosis is consistent with maturity-onset diabetes of the young type 5 (mody5)

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en:age of onset 30 to 60 years

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en:genetic heterogeneity (see 607634)

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en:gait difficulties and beginning of cognitive decline in first decade

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en:fractures and dental caries and premature secondary tooth loss occur in adulthood

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en:found predominantly in the amish population

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en:dip is a pathologic diagnosis that may represent other disease entities

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en:death in utero or early infancy

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en:clinically mimics congenital torch infections (see 251290)

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en:capillary malformation are apparent at birth

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en:based on report of 1 family of german ancestry (last curated december 2014)

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en:attacks may present during or after sleep

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en:asymmetric muscle involvement

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en:sister of affected male siblings had mild learning disabilities and obesity

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en:affected fetuses frequently undergo spontaneous abortion

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en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:geneticist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative

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en:seizures are refractory to medication

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en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities

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en:some patients may present with adult-onset small fiber neuropathy

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en:sleep terrors usually remit during adolescence

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en:onset in infancy or early childhood

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en:onset usually in childhood

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en:prevalence of 1 in 240 zuni indians

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en:risk of thromboembolic stroke

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en:some patients exhibit features of more than 1 type of cardiomyopathy

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en:onset between 12 and 30 years (average 22)

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en:survival to 10 years

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en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty

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en:sudden death in affected females occurs in the forties

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en:variable age at onset, most often in second decade

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en:variable phenotype ranging from woolly to sparse hair, even within a single family

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en:onset between ages 12 and 20 years

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en:onset 8-20 years

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en:early onset (9-48 years, but reported up to 68 years)

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en:normal range of expanded repeats 9-29, hd range 36-121

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en:allelic to senior-loken syndrome 4 (606996)

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en:attacks tend to decrease with age

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en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found

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en:patient satisfaction with healthcare delivery:score:pt:^patient:qn

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en:high frequency in finnish population

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en:many cases are asymptomatic

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en:increased prevalence in individuals of jewish-iraqi origin

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en:increased risk of post-splenectomy thrombotic complications (in some patients)

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en:later onset (late childhood to young adult) has been reported

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en:limited clinical information provided for patients with mks1 mutations (last curated october 2014)

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en:high risk of death in infancy due to cardiac failure

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en:limited clinical information due to surgical removal of lens in affected individuals

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en:most common disorder of fatty acid oxidation (1/13,000 births)

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en:most have resolution of symptoms between 6 and 12 months

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en:normal in neonatal period

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en:one pakistani family has been reported (last curated october 2012)

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en:pain tends to occur later in the day

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en:onset in childhood (mean 6 years)

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en:onset usually in the neck

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en:pain is relieved by antiinflammatory medication

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en:phenotypic overlap with frontotemporal dementia (600274)

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en:possibly allelic to cohen syndrome (216550)

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en:intrafamilial variability in severity of hypothyroidism

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en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis

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en:juvenile absence epilepsy (jae, 607631)

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en:average age at onset 18.6 years

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en:intermittent pyrexia

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en:initially normal for first 6-18 months which is then followed by withdrawal and regression

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en:episode frequency is monthly to yearly, and decreases with age

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en:death in infancy secondary to respiratory insufficiency/pneumonia

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en:childhood onset has been reported in 1 family

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en:bone abnormalities improve with age

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en:based on 1 large swiss german kindred (last curated august 2015)

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en:antenatal onset

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en:alpha-l-iduronidase activity is <1% for all forms of mps1

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en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement

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en:age of onset ranges from 1 to 47 years

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en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl

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en:service comment 38:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens

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en:retinal hemorrhages usually resolve without sequelae

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en:death in childhood may occur due to end-stage renal disease

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en:slight male predominance (3:2)

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en:some patients show no bleeding abnormalities

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en:some patients may be asymptomatic if diagnosed early and properly managed during metabolic crises

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en:prevalence of 1 in 150 to 1 in 1,000

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en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd

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en:onset 0-12 hours after birth

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en:one report of mother and son (last curated august 2012)

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en:one consanguineous pakistani family has been reported (last curated november 2014)

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en:juvenile myoclonic epilepsy (jme, 606904)

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en:incidence is less than 1 in 70,000 births

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en:incidence approximately 2-3/10,000 newborns

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en:hyperlipidemia may be partially responsive to fat-restricted diet

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en:heterogeneous disorder

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en:mean age at onset of dementia is 57 years

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en:carrier mothers have urine biochemistry profiles identical to those of their sons

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en:variable age at onset of neuropathy (range first to sixth decade)

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en:some patients have additional neurologic involvement

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en:cardiac involvement occurs between 5 and 12 years

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en:surviving infants develop severe nonbullous ichthyosiform erythroderma

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en:symptoms resolve over weeks to months with usually no residual symptoms between attacks

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en:tumors are microsatellite stable

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en:two families with confirmed adra2b mutations have been reported (last curated june 2015)

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en:visual acuity better than anticipated from ophthalmoscopic appearance

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en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:94% develop hypertension at 18 years of age or less

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en:age at onset in females ranges from childhood to the fourth decade

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en:a subset of patients have a 'visual variant'

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en:begins in feet and legs (peroneal distribution)

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en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070

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en:one consanguineous saudi family had additional features of microcephaly, mental retardation, ophthalmoplegia, and syndactyly

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en:onset in early childhood after initial normal development

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en:onset in mid to late childhood

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en:onset usually before age 40 years

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en:onset usually within first weeks of life

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en:sudden cardiac death in some families

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en:prevalence in slovenia is 1 in 43,000

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en:progressive or slowly progressive

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en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood

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en:spectrum of laterality defects

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en:static or slowly progressive

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en:stillborn or death shortly after birth

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en:neurologic features occur later in childhood

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en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective

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en:affected males are infertile, whereas affected females have recurrent pregnancy loss

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en:most individuals are wheelchair-bound or bedridden by adolescence

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en:majority of cases in the afrikaner population of south africa

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en:juvenile onset 4 years to puberty

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en:genetic heterogeneity (see 209850)

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en:generally static disease course

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en:four patients have been reported (as of july 2011)

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en:early treatment can reduce neurologic symptoms

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en:early-onset associated with more severe course and early death

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en:decreased fertility

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en:death in utero (30%)

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en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000)

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en:allelic disorder to nf1

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en:age of onset, 6-20 years

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en:age:time:point in time:^patient:quantitative

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en:by age 50 years, affected family members have a 50mm hg increase in mean arterial blood pressure compared to unaffected relatives

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en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:lower limb involvement precedes upper limb involvement

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en:wide variability in severity of limb defects

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en:variable age of onset (range 4 to 47 years)

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en:pulsatile headache lasts hours to days

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en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada

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en:patients do not have ectopia lentis

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en:onset of seizures between 9 and 12 months of age

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en:onset in teens to late twenties (range 14 to 44 years)

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en:occurs in full-term newborns

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en:nonsyndromic

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en:neurologic findings closely resemble those of huntington disease (hd, 143100)

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en:may be asymptomatic

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en:maternal anticipation bias

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en:onset of hearing loss in adolescence

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en:liver enzymes decrease with age

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en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and stapes ankylosis syndrome without symphalangism (184460)

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en:incidence of 1% in yarmouth county, nova scotia

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en:acral form of skin peeling limited to hands and feet (609796)

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en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance

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en:age of onset 28 to 70 years

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en:age of onset between 20 to 30 years

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en:allelic disorder to limb-mammary syndrome (lms, 603543)

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en:allelic disorder to early-onset sarcoidosis (609464)

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en:associated with fragile x syndrome (309550)

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en:a nonspecific marker of somatic mosaicism

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en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:carnitine supplementation can prevent further episodes and declines in cardiac function

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en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood

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en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism

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en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000)

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en:onset at 4 years of age

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en:two patients from spain have been reported (as of january 2012)

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en:pathogenic alleles contain 52 to 86 repeats

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en:patients may present with autoimmune features or primary immunodeficiency

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en:progression of the disorder is precipitated by viral symptoms

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en:progressive cerebellar ataxia

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en:some patients may have residual muscle weakness

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en:carrier females show no clinical phenotype

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en:variable age at onset (range childhood to adult)

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en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative

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en:age of onset 36 to 55 years (mean 47)

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en:autosomal recessive inheritance has been suggested

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en:average age at onset 18 years (range 15 to 25 years)

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en:based on a report of 2 unrelated saudi patients (last curated september 2015)

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en:one family reported (last curated january 2014)

•

en:onset age 15-25 years

•

en:age at diagnosis 28 +/- 18 years

•

en:one family reported (as of may 2012)

•

en:good response to immunotherapy (intravenous igg or plasmapheresis)

•

en:adult onset of neurologic symptoms (range 30 to 46 years)

•

en:earlier onset is rare

•

en:allelic to stickler syndrome, type 3 (184840) and osmed (215150)

•

en:all cases occur in a jewish religious isolate originally from cochin, india

•

en:favorable response to ursodeoxycholic acid treatment

•

en:fractures often heal without deformity

•

en:genetic heterogeneity, see apmr1 (203650)

•

en:high prevalence in charlevoix-saguenay region of northeastern quebec

•

en:one consanguineous family has been reported (last curated may 2013)

•

en:lesions occur mainly on the pinnae of the ears or on the face

•

en:may be fatal

•

en:mean age at onset 28 years

•

en:motor neuropathy more prominent than sensory neuropathy

•

en:mucocutaneous immunodeficiency syndrome may be prominent

•

en:no consistent disease phenotype

•

en:no male-to-male transmission

•

en:death may occur in childhood due to respiratory failure

•

en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life

•

en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years)

•

en:original phenotype description based on patients from la reunion island in the indian ocean off the east coast of africa where the incidence is 1/1,500 births

•

en:patients may have either dementia or motor neuron disease or both

•

en:patients with the autosomal recessive disorder have a more severe phenotype

•

en:phenotypic overlap with albright hereditary osteodystrophy (aho, 103580) and smith-magenis syndrome (sms, 182290)

•

en:prenatal onset or onset in infancy

•

en:risk of affected offspring in maternal translocation carrier - 4-10%

•

en:skin manifestation less frequently observed in cold climates

•

en:onset bimodal, ages 16-22 and ages 57-60

•

en:slow, progressive growth, then stable

•

en:thiamine supplementation may be beneficial

•

en:twinning due to superfetation

•

en:variable age of onset (range first to third decade)

•

en:variable severity (in patients with hsan2d)

•

en:worldwide incidence of 1 in 185,000 live births

•

en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy

•

en:onset in utero in severely affected patients

•

en:triggered by minor head trauma

•

en:onset around adolescence in males

•

en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes

•

en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement

•

en:one family reported (last curated july 2008)

•

en:favoring of fat and protein

•

en:group b, found in france and united kingdom, severe phenotype

•

en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities

•

en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level

•

en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama

•

en:estimated mutation carrier rate of 1 in 350

•

en:lesions apparent at birth

•

en:median age of diagnosis is 28 years

•

en:liver symptoms improve with age and disappear after puberty

•

en:normal alleles contain 6 to 28 repeats

•

en:most children become wheelchair-bound

•

en:one family has been reported (last curated march 2015)

•

en:majority of cases in manitoba indians, northeastern manitoba, canada

•

en:may regress

•

en:u-shaped pattern of temperature-dependent potassium flux (in some patients)

•

en:two subtypes based on pathologic findings of 'balloon cells' - type iia, absence of balloon cells and type iib, presence of balloon cells

•

en:two types - severe infantile form (type i) and milder form (type ii)

•

en:type 2cb is characterized by defective binding affinity for collagen types i and iii

•

en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490)

•

en:type ii patients are usually japanese and have significant aprt activity (10-25%)

•

en:variable age of onset, from 6 to 50 years of age

•

en:usually favorable response to treatment

•

en:wide range of onset from childhood to adult (10 to 50 years)

•

en:variable age of onset (range early childhood to adult)

•

en:variable cardiac defects

•

en:variable cataract phenotypes within a family

•

en:variable clinical phenotype

•

en:variable frequency (weekly to yearly)

•

en:shields classification -

•

en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012)

•

en:variable onset of seizures from neonatal to first year of life

•

en:variable phenotypic expression within same individual in each eye (in some patients)

•

en:variable progression

•

en:variable response to levodopa treatment

•

en:waddling gate

•

en:two sibs have been reported (last curated may 2013)

•

en:some patients present with spasticity, whereas others present with cerebellar ataxia

•

en:two patients with point mutations in rad21 have been reported (last curated july 2012)

•

en:successful treatment with oral isotretinoin

•

en:x-linked mental retardation-hypotonic facies syndrome (309580) is an allelic disorder without alpha-thalassemia

•

en:short limbs become more apparent during childhood

•

en:skeletal abnormalities are variable

•

en:sleepwalking triggered by alcohol, sleep deprivation, stress

•

en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes

•

en:some patients have a crouzon-like appearance

•

en:some patients have deletions or duplications of chromosome 2p25.3 encompassing several genes

•

en:some patients have resolution of symptoms in first year of life

•

en:some patients may benefit from coenzyme q10 treatment

•

en:some patients may develop interictal progressive ataxia

•

en:some patients show onset in childhood

•

en:spots occur in 95% of patients but can be absent

•

en:survival past infancy is rare

•

en:two families of canadian origin have been reported (last curated may 2012)

•

en:survivors may develop renal insufficiency and hepatic dysfunction

•

en:symptoms occur only during pregnancy (usual onset after 6 weeks gestation)

•

en:symptoms precipitated by exercise and excitement

•

en:symptoms relieved by serotonin antagonist (in some patients)

•

en:symptoms usually appear in adulthood

•

en:t-cell lymphopenia is more severe early in life

•

en:three patients have been reported (as of october 2009)

•

en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery

•

en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects

•

en:two families from the tamil nedu region of eastern india have been described (last curated november 2015)

•

en:two families have been reported (as of curation date april 2014)

•

en:two families have been reported (last curated december 2010)

•

en:worldwide frequency of 1 in 2,000,000

•

en:based on one italian family (last curated august 2015)

•

en:age:time:pt:^patient:qn:reported

•

en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later

•

en:allelic to eec3 (604292), shfm4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and adult syndrome (103285)

•

en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930)

•

en:allelic to proximal symphalangism (185800), multiple synostoses syndrome 1 (186500), tarsal-carpal coalition syndrome (186570), and stapes ankylosis syndrome without symphalangism (184460)

•

en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900)

•

en:all cases from a remote village, sabinas, in northern mexico

•

en:all known cases are caused by a finnish founder mutation in the cln8 gene (607837.0001)

•

en:all reported mutations have occurred de novo

•

en:anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient

•

en:anemia is not responsive to pyridoxine supplementation

•

en:approximately 60% of brrs patients have pten mutations

•

en:associated with iron deficiency anemia

•

en:associated with susceptibility loci on chromosome 11p11 (clls1, 609630), 13q14 (clls2, 109543), 9q34.1 (clls3, 612557), 6p25.3 (clls4, 612558), and 11q24.1 (clls5, 612559)

•

en:attacks typically last for minutes

•

en:atypical hemolytic-uremic syndrome shows onset in first 12 months

•

en:allelic to brachydactyly, type a2 (112600)

•

en:autosomal recessive inheritance can occur

•

en:average age at onset 31 years (range 7 to 54)

•

en:average age at onset 66 years although earlier onset may occur

•

en:average duration of illness 8 years

•

en:based on detailed clinical description of 1 family

•

en:based on one 4-generation german family (last curated august 2015)

•

en:severe phenotype

•

en:based on one large north american family (last curated august 2015)

•

en:based on one report of 3 sibs and 1 unrelated patient of pakistani origin (last curated december 2015)

•

en:based on report of 4 unrelated patients (last curated january 2016)

•

en:based on report of one indian family (last curated august 2015)

•

en:bleeding is usually delayed-onset after challenge

•

en:both autosomal dominant and autosomal recessive inheritance have been reported

•

en:allelic to deafness, autosomal recessive 12 (601386)

•

en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset

•

en:flow cytometry specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative

•

en:adult onset, usually 30's to 40's, but up to early 60's

•

en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 35:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid

•

en:(2) intermittent

•

en:(4) thiamine-responsive form

•

en:14 patients in 8 recessive kindreds reported (as of february 2012)

•

en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease)

•

en:50% of cases represent new mutations associated with advanced paternal age

•

en:about 50% of mutation carriers are asymptomatic

•

en:about a dozen patients have been reported (as of march 2012)

•

en:adrenal insufficiency usually develops later (first decade)

•

en:adult-onset in third to fourth decade

•

en:adult onset (25-45 years)

•

en:allelic disorder to stickler syndrome 3 (184840)

•

en:adult onset has been reported (age 50 years)

•

en:adult onset may occur

•

en:affected individuals have amnesia for events

•

en:affected individuals remain ambulatory

•

en:affected males show onset of hematuria in first year of life

•

en:age at diagnosis 2-4 months

•

en:age of onset/diagnosis 12-35 years

•

en:age of onset varies from 5-32 years of age

•

en:allelic disorder to androgen insensitivity syndrome (ais, 300068)

•

en:allelic disorder to autosomal dominant optic atrophy and cataract (165300)

•

en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145)

•

en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595)

•

en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260)

•

en:sex ratio - 2 females to 1 male

•

en:onset of hearing loss in late childhood

•

en:severe infantile form presents before 6 months

•

en:one turkish girl has been reported (last curated april 2013)

•

en:one consanguineous pakistani reported (last curated july 2015)

•

en:one family and 1 unrelated patient have been reported (last curated january 2011)

•

en:one family has been reported (last curated january 2010)

•

en:one family reported (last curated november 2011)

•

en:one family with 3 patients and 1 patient with sporadic disease have been reported (last curated june 2011)

•

en:one family with autosomal dominant inheritance had only progressive bone marrow failure

•

en:one family with a confirmed pathogenic atp2b3 mutation has been reported (last curated december 2012)

•

en:one patient has been reported (last curated december 2015)

•

en:one patient has been reported (last curated march 2015)

•

en:one patient showed improvement and was thriving at 46 months of age

•

en:one patient with a homozygous mutation has been reported (as of 14 june 2011)

•

en:one swiss family with 19 affected individuals has been described (last curated february 2014)

•

en:only 46,xy individuals are affected

•

en:one chinese family with 14 affected individuals has been described (last curated february 2014)

•

en:onset 1-12 years

•

en:onset at 4 to 7 years

•

en:onset at 6-36 hours of life

•

en:onset at age 10 to 14 years

•

en:onset at age 5 years

•

en:onset between 10 and 20 years of age

•

en:onset between 18 and 65 years

•

en:onset from first to third decades of life

•

en:onset in childhood (usually before age 5 years)

•

en:onset in childhood or young adulthood

•

en:onset in early infancy (2 to 3 months of age)

•

en:onset in first decade (e.g. 180380.0028)

•

en:onset in first decade of life

•

en:one consanguineous family has been reported (last curated june 2014)

•

en:one-third of cases are familial

•

en:onset in infancy or childhood (range 1 to 6 years)

•

en:most patients die in the first days of life

•

en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome

•

en:male to female ratio is greater than 3:1

•

en:many become wheelchair bound

•

en:many patients die by 1-3 years of age

•

en:many patients recover normally

•

en:maternal breast milk is protective

•

en:may progress to upper limbs

•

en:mean age of onset in third decade

•

en:mildly progressive

•

en:more commonly observed in women

•

en:more common in females

•

en:most common form of inherited, congenital hydrocephalus

•

en:most patients become wheelchair-bound in the second to fourth decades

•

en:most patients have a family history of fragile x syndrome

•

en:often diagnosed between ages 3-4 months

•

en:most patients need hip replacement by their mid-thirties

•

en:motor symptoms show mild clinical improvement with levodopa treatment

•

en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age

•

en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli

•

en:neurologic features have been diagnosed in ~30% of cases

•

en:neuropathy becomes apparent in childhood

•

en:new skin lesions stop appearing before adolescence

•

en:nine patients have been reported (last curated july 2015)

•

en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377)

•

en:normal female secondary sexual characteristics

•

en:no abnormalities of skin, hair, teeth, or bones

•

en:no systemic manifestations

•

en:occurs during pregnancy, most often in the third trimester

•

en:onset in fourth to fifth decade

•

en:onset in infancy or first years of life

•

en:severe hypertension develops in childhood

•

en:rapid progression in adolescence

•

en:pigment does not develop with age

•

en:prevalence approximately 1 in 4,000 males

•

en:prevalence of 1 in 1,500

•

en:prevalence of 1 in 10,000 caucasians

•

en:prevalence of 1 in 6,000 to 1 in 10,000

•

en:prevalence of sleep terrors less than 1% in adults

•

en:prevalent in quebec

•

en:primary teeth affected greater than secondary teeth

•

en:progressive sclerosis with age

•

en:pyogenic arthritis, pyoderma gangrenosum and acne

•

en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400)

•

en:rapidly progressive course

•

en:rapid disease progression

•

en:rare survival to teens

•

en:phenotype may be exacerbated by maltreatment in childhood

•

en:reported in a large hutterite family

•

en:reported in individuals of french canadian origin

•

en:right side affected greater than left side

•

en:second most common form of usher syndrome type i

•

en:see also cblc (277400)

•

en:seizures are responsive to pyridoxine treatment

•

en:seizures are usually intractable

•

en:seizures may improve with age

•

en:seizures recur in 33% of patients

•

en:seizures usually remit in adolescence

•

en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750)

•

en:phace is an acronym for posterior fossa brain malformation, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities

•

en:onset in late infancy

•

en:onset usually after viral-like infection

•

en:onset in second decade or as young adult

•

en:onset in second to fifth decade

•

en:onset in utero or in infancy

•

en:onset may also occur in early infancy, adolescence, or adulthood

•

en:onset of bleeding in infancy or early childhood

•

en:onset of clinical features around puberty

•

en:onset of gastrointestinal tumors typically occurs in the second decade

•

en:onset of symptoms 2-6 years of age

•

en:onset of symptoms in fifth decade

•

en:onset of visual loss in childhood (around age 5 years)

•

en:onset prenatally or at birth

•

en:onset ranges from childhood to adulthood

•

en:onset ranges from young adulthood to sixties

•

en:onset usually at 2 to 6 months of age

•

en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress

•

en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder

•

en:overlap with tourette syndrome (137580)

•

en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity)

•

en:pathogenic alleles contain 75-11,000 repeats

•

en:patients are born with normal head circumference

•

en:patients can have als, ftd, or both

•

en:patients do not have clinical hypothyroidism

•

en:patients have normal levels of vitamin a, beta-carotene, and zinc

•

en:patients require achilles tendon lengthening in first or second decade of life

•

en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported

•

en:patients with homozygous mutations have a more severe disorder

•

en:patients younger than 30 years complain only that they cannot run fast

•

en:penetrance of disease is complete between 30 and 40 years of age

•

en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia

•

en:variable severity of scaling and palmoplantar keratoderma

•

en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation'

•

en:patients may or may not have dysmorphic features

•

en:onset usually before age 10 years

•

en:onset usually in early childhood, although ranges from birth to adulthood

•

en:onset usually in first decade

•

en:onset usually in infancy or early childhood (9 months to 6 years)

•

en:onset within first year of life

•

en:pathogenic alleles contain greater than 41 repeats

•

en:patients become wheelchair-bound as adults

•

en:patients do not exhibit skin pigmentation changes

•

en:patients have normal pituitary function

•

en:patients have severe anemia requiring regular transfusions for normal activity

•

en:patients may become ventilator-dependent

•

en:patients may be asymptomatic, but are at risk for metabolic decompensation

•

en:patients may present with either renal or neurologic symptoms

•

en:onset second decade of life

•

en:patients often require implantation of a pacemaker

•

en:patients usually require total thyroidectomy

•

en:pavm more frequent in hht1 than hht2

•

en:pcs is a distinct disorder from premature centromere division (pcd, 212790), which affects only the x chromosome

•

en:pedigrees consistent with autosomal dominant and autosomal recessive inheritance have been described

•

en:penetrance estimated to be 80%

•

en:phenotype is worsened by cold temperature

•

en:phenotypic overlap with denys-drash syndrome (194080).

•

en:phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, 162400)

•

en:pigmented spots appear in infancy through childhood and fade in adulthood

•

en:poor gonadotropin response to gonadotropin releasing hormone (gnrh)

•

en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia

•

en:prevalence 1 in 8000

•

en:onset usually associated with febrile illness

•

en:onset ranges from childhood to young adulthood

•

en:prevalence is estimated to be 1 in 1,100,000

•

en:onset in childhood (range 1 to 12 years)

•

en:one patient has been reported (last curated october 2014)

•

en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications

•

en:one patient was less severely affected

•

en:one patient with normal cognition has been reported

•

en:onset 1-70 years of age (95% by early 50's)

•

en:onset 13-15 years

•

en:onset 70-90 years

•

en:onset after age 40 years

•

en:onset after third decade

•

en:onset by 1 year of age

•

en:onset during the second/third decade of life with high frequency loss slowly progressing and extending to all frequencies by the fifth/sixth decade of life

•

en:onset early in first decade

•

en:onset in childhood (3 to 10 years)

•

en:onset in early childhood or adolescence

•

en:onset of skin manifestations from birth to puberty

•

en:onset in first 8 weeks of life

•

en:onset in first decades (males)

•

en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age

•

en:onset in fourth decade

•

en:onset in late teens to early forties

•

en:onset in the first few months of life patients may need lifelong total parenteral nutrition

•

en:onset of calf hypotrophy may occur earlier

•

en:onset of crises in early childhood

•

en:onset of disease in late childhood

•

en:onset of distal muscle weakness in adulthood (range twenties to forties), however, pes cavus or percussion-inducted contractions may be present earlier

•

en:onset of joint pain in childhood

•

en:onset of night blindness varies among patients from early childhood to mid thirties

•

en:onset of seizures between 2 and 5 years

•

en:prevalence in taiwan is 1 in 132,000

•

en:prevalence of 1 in 100,000

•

en:one pakistani reported (last curated november 2012)

•

en:variable age at onset, with cataract noted in early childhood in some patients and in the third to sixth decade of life in other patients

•

en:thorax anomaly ameliorates with age (in some patients)

•

en:three out of 4 reported patients died (last curated may 2014)

•

en:three patients have been reported (as of november 2010)

•

en:two patients without cardiomyopathy or cataracts have been reported

•

en:typical onset in adulthood

•

en:uncommon disorder

•

en:usually fatal

•

en:variable age at onset (infant to adult)

•

en:sudden infantile death may occur

•

en:variable age at onset (range 2 to 48 years)

•

en:variable age of onset (20 to 35 years old)

•

en:variable age of onset (7-59 years)

•

en:variable age of onset of renal manifestations

•

en:variable cardiac phenotype

•

en:variable duration (minutes to hours)

•

en:variable phenotype, particularly with regard to cortical malformations

•

en:variable presentation and evolution of symptoms

•

en:variably severity

•

en:vhl type 2c - pheochromocytoma only

•

en:visual impairment is present at birth and is progressive

•

en:waddling gait noted at age 15-20 months

•

en:walking delay

•

en:surgical intervention is not always curative

•

en:stillborn or infantile death usual in prenatal form

•

en:prevalence of 1 in 200,000 to 1 in 800,000

•

en:prevalence of 1 in 300,000 in quebec

•

en:prevalence of 2-7% in english-speaking preschool children

•

en:psychomotor delay may already be apparent at onset of seizures

•

en:rare adult onset

•

en:recurrent acute episodes

•

en:recurrent bacterial, viral, and fungal infections

•

en:relationship of rare neuropsychiatric signs to histidinemia is unclear

•

en:renal involvement and coloboma may not be present

•

en:risk of death due to cardiac dysfunction

•

en:secondary tumors develop within the skin lesions

•

en:see (277600) for a phenotypically similar autosomal recessive form

•

en:spontaneous resolution of seizures by 12 months of age

•

en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders

•

en:seizures remit in later childhood

•

en:seizures usually remit spontaneously by 12 months of age

•

en:seizure onset after 3 months

•

en:seizure severity and frequency tend to improve with age

•

en:sib b did not receive mmr vaccination and was asymptomatic in infancy

•

en:skin appears normal at birth, with development of generalized ichthyosis in childhood

•

en:some patients carry heterozygous mutations

•

en:some patients have an attenuated phenotype

•

en:some patients have isolated cfeom

•

en:sparing of some nails in some individuals

•

en:one patient has been reported (last curated december 2014)

•

en:one family with late-adult onset and cerebellar ataxia has been reported (last curated february 2015)

•

en:child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects

•

en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients

•

en:febrile seizures remit by age 5 or 6

•

en:feet are unaffected

•

en:females more severely affected than males

•

en:females tend to have earlier onset

•

en:few patients with mild to moderate mental retardation

•

en:first fracture in early childhood

•

en:four cases have been reported, all female

•

en:four patients from 2 unrelated families have been reported (last curated april 2013)

•

en:four patients from 3 families have been reported (last curated september 2014)

•

en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form

•

en:frequency of episodes ranges from several per week to several per year

•

en:features are variable

•

en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300)

•

en:genetic heterogeneity (see 161400)

•

en:genetic heterogeneity (see coxpd1, 609060)

•

en:genetic heterogeneity (see madb, 608612)

•

en:gms is goniodysgenesis, mental deficiency, and short stature

•

en:group a, found in north american indians, has lactic acidosis and psychomotor retardation

•

en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures)

•

en:hearing loss and hoarseness occur later

•

en:heterozygotes are not affected

•

en:heterozygotes exhibit blue sclerae and soft velvety skin

•

en:heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures

•

en:heterozygous female carriers may manifest symptoms

•

en:highly variable clinical and immunologic phenotype

•

en:features intermediate between demyelinating cmt and axonal cmt

•

en:facial appearance becomes more apparent with age

•

en:highly variable phenotype and severity

•

en:death usually occurs in the first weeks to months of life

•

en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product

•

en:classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years

•

en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers

•

en:clinical overlap with charcot-marie-tooth disease type 2c (606071)

•

en:color vision defects may not be part of the phenotype

•

en:congenital - over 2,000 repeats

•

en:considered to be a variant of gaucher disease type iii (231000)

•

en:death between 2 years of age and young adulthood

•

en:death in early infancy

•

en:death in utero

•

en:death often in childhood

•

en:death secondary to respiratory insufficiency

•

en:death usually in newborn period or infancy

•

en:diagnosis in seventh decade of life

•

en:extreme sensitivity to chemotherapy

•

en:diagnosis within the first 3 months of life

•

en:disability by end of first decade

•

en:disease shows slow progression

•

en:distinct disorder from parkinson disease (168600)

•

en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications

•

en:earlier onset associated with increased severity

•

en:early death (in some patients)

•

en:echocardiogram and ophthalmologic examination normal

•

en:elevated afp can be seen in other disorders

•

en:empiric risk for a sib of an affected child between 2 and 5%

•

en:epiphyseal stippling is gone by 8 months of age

•

en:episodes triggered by fasting, illness, fever

•

en:exacerbation during febrile episodes

•

en:highly variable phenotype, even within families

•

en:high frequency in tibetan individuals

•

en:one family with 3 affected males has been reported (as of october 2011)

•

en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected

•

en:most affected patients die in childhood

•

en:most common cancer in men aged 15-40 years

•

en:most common form of bowel obstruction in infancy

•

en:most common form of congenital methemoglobinemia

•

en:most patients die in infancy features of pseudoxanthoma elasticum, an allelic disorder, have not yet been reported in gaci2 patients (the 4 surviving patients reported as of january 2012 are all age 5 years or less)

•

en:most patients die of hepatic failure by 9 months of age

•

en:most retain independent ambulation

•

en:most severe type of von willebrand disease

•

en:multiple gene loci involved in causation of schizophrenia

•

en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840)

•

en:myoclonic seizures occur on awakening or within 2 hours of awakening

•

en:negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time)

•

en:newborn period is critical for survival

•

en:nonprogressive or very slowly progressive

•

en:mild symptoms may occur in teenage years

•

en:normal cag repeat length is 7 to 32 triplets

•

en:no clinical manifestations

•

en:no family history of

•

en:no skin abnormalities

•

en:occasional adult onset

•

en:occurs at age 20-50 years

•

en:older patients become wheelchair-dependent

•

en:one consanguineous family has been reported (last curated december 2010)

•

en:one consanguineous saudi arabian family has been reported (last curated august 2014)

•

en:one family has been reported (last curated december 2013)

•

en:one family has been reported (last curated june 2014)

•

en:one family has been reported (last curated september 2013)

•

en:one family of mali origin has been reported (last curated january 2013)

•

en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities

•

en:microdeletion is approximately 1.5mb in length

•

en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement

•

en:later onset may occur (1 to 11 years)

•

en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001)

•

en:hyperthermia in early childhood

•

en:immunosuppressive therapy may be beneficial

•

en:incidence of 1 in 276,000 in the netherlands

•

en:incidence of 1 in 6,000 males

•

en:incomplete, age-associated penetrance

•

en:increased frequency in the faroe islands (carrier 1 in 25)

•

en:increased risk of early death

•

en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii

•

en:increased susceptibility to malignant hyperthermia

•

en:independent ambulation is maintained

•

en:lack of treatment results in early death

•

en:later onset can also occur (up to age 17 years)

•

en:left side involvement associated with serious cardiac defect

•

en:mean age of diagnosis 40 years

•

en:lethal in first weeks of life

•

en:life-threatening in infancy due to sepsis

•

en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300)

•

en:loss of independent ambulation due to muscle weakness in adulthood

•

en:macular degeneration only occurs in some patients at very late age (over 70)

•

en:male predominance

•

en:marked heterogeneity

•

en:marked variability in severity of the skin lesions

•

en:maternal oligohydramnios

•

en:may be lethal if untreated

•

en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777)

•

en:may or may not be responsive to pyridoxine (vitamin b6) treatment

•

en:mean age at termination 3 to 4 years

•

en:males are most severely affected, but females can also be affected

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Génériques

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en:incomplete

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9091379 • caches: c1=22 c2=2070 c3=65

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