Le Diko - en:fishy body odor

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Le Diko - en:fishy body odor

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le dictionnaire d'associations lexicales
contributif et libre de JeuxDeMots

en:fishy body odor

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:variable survival (some neonatal lethality)

•

en:generally benign disorder

•

en:onset in teens to 20's

•

en:onset in males in first to third decade

•

en:onset <30 months

•

en:only 46,xy individuals are affected

•

en:one patient has been reported (as of may 2011)

•

en:one large italian kindred has been reported (last curated november 2015)

•

en:normal sweat electrolytes

•

en:n-myc oncogene (164840) amplification is associated with poor prognosis

•

en:mean age of diagnosis is 40 years (range 11 to 79 years)

•

en:initial hearing loss is mild progressing to severe or profound by the seventh decade

•

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

•

en:high incidence of diabetes mellitus noted in opll patients

•

en:genetic heterogeneity, see spg3a (182600)

•

en:female carriers may be less severely affected

•

en:prevalence is estimated to be 1 in 150,000

•

en:estimated incidence 1/20,000 - 1/40,000

•

en:early death may occur due to infection

•

en:death usually in infancy

•

en:carrier females show no phenotypic abnormalities, but may have learning difficulties

•

en:breech presentation

•

en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years)

•

en:based on report of 5 brothers of arab-moslem descent (last curated february 2015)

•

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

•

en:allelic to bardet-biedl syndrome 6 (209900)

•

en:affected infants often die in utero or in the postnatal period

•

en:additional developmental abnormalities may be seen in some patients

•

en:service comment 52:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:usually follows a static course or is slowly progressive

•

en:onset usually in adolescence

•

en:incomplete penetrance with 45 to 51 repeats

•

en:prevalence of sleepwalking up to 26% in childhood

•

en:greater expression in females

•

en:three patients have been described (last curated january 2013)

•

en:rickets and premature primary tooth loss occur in childhood

•

en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis

•

en:precipitated by mechanical compression or pressure on nerve

•

en:onset usually in childhood

•

en:onset of thrombosis by age 2 years

•

en:onset 6 months to 2.5 years

•

en:one consanguineous tunisian family has been reported (last curated june 2015)

•

en:muscle contractions in infancy occur in response to tactile stimulation or crying

•

en:most have onset in first or second decade

•

en:mental retardation likely secondary to neonatal hypoxia

•

en:leg pain during childhood

•

en:infants may die from apnea or aspiration

•

en:incomplete penetrance

•

en:predominantly occurs in young males with a high rate of atopic disease

•

en:genetic heterogeneity (see cmt1b 118200)

•

en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650)

•

en:genetic heterogeneity (see 605407)

•

en:symptoms of zinc deficiency occur only in exclusively breastfed infants

•

en:types of psoriasis include - plaque, guttate, erythrodermic, pustular

•

en:reference lab name:identifier:time reported elsewhere:reference lab test:nominal

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en:service comment 21:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014)

•

en:aortic dissection may occur in second decade of life

•

en:based on the report of one lebanese family (last curated october 2014)

•

en:death in neonatal period

•

en:earlier onset is associated with more aggressive disease course

•

en:based on 2 reports of 3 patients (last curated september 2012)

•

en:fever of unknown origin

•

en:seizures remit spontaneously by age 5 years

•

en:onset in late childhood or adulthood

•

en:onset of kyphosis in childhood

•

en:patients from 4 unrelated families have been reported (as of october 2011)

•

en:phenotype may be exacerbated by maltreatment in childhood

•

en:treatment with bh4 is effective

•

en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+)

•

en:three families described (last curated january 2014)

•

en:visceral manifestations are less apparent

•

en:z allele most common, only in caucasians

•

en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms

•

en:natural aversion to carbohydrates and favoring of protein

•

en:one 4-generation chinese family has been reported (as of 04/2010)

•

en:episodes last from several hours to days

•

en:motor symptoms show mild clinical improvement with levodopa treatment

•

en:median age at onset is 21 years

•

en:majority of patients have normal intelligence

•

en:increased frequency in the state of bahia, brazil

•

en:genetic heterogeneity (see rmd, 606072)

•

en:four unrelated families have been reported (last curated february 2015)

•

en:de novo mutation resulting in haploinsufficiency of eftud2 (603892)

•

en:delayed psychomotor development apparent in infancy

•

en:defect in urocanic acid conversion to formiminoglutamic acid (figlu)

•

en:both homozygous and heterozygous edn3 mutations have been found

•

en:allelic to fechtner syndrome (153640), may-hegglin anomaly (155100), sebastian syndrome (605249), and epstein syndrome (153650)

•

en:acute encephalopathic episodes may occur

•

en:adult onset (thirties to forties)

•

en:adult onset (range 34 to 66 years)

•

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

•

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

•

en:no extraocular findings

•

en:allelic to enhanced s-cone syndrome (268100)

•

en:two families described (last curated july 2013)

•

en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence

•

en:severity of phenotype is not related to residual enzyme activity

•

en:seizures may be triggered by infection

•

en:rapid progression to disability

•

en:onset usually by age 2 years

•

en:onset of diabetes at less than 25 years of age

•

en:onset in young adulthood or adulthood

•

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

•

en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014)

•

en:one family with 4 affected sibs has been reported (as of april 2012)

•

en:the characteristic changes in the spine resolve by adolescence

•

en:most patients become seizure-free by age 3 or 4 years

•

en:four unrelated infants with the disorder and decreased expression of csf2rb in cells have been reported

•

en:complete penetrance

•

en:congenital onset or onset before 2 years (prelingual)

•

en:death in infancy in 2 patients

•

en:female carriers may have mild hearing impairment and/or mild signs of choroideremia

•

en:four patients from 3 families have been reported (last curated march 2016)

•

en:increased frequency in individuals of asian descent

•

en:increased morbidity/mortality in affected males

•

en:internal organ rupture may occur

•

en:mean age of onset 35-40 years

•

en:mean age of onset 50 to 52 years

•

en:two unrelated patients have been reported (as of june 2011)

•

en:midline defects

•

en:presentation after 6 months

•

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

•

en:onset in fourth to fifth decade

•

en:onset within the first decade of life

•

en:variable age of onset (range 4 months to 45 years)

•

en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats)

•

en:seizures tend to remit later in childhood

•

en:some individuals may be clinically asymptomatic

•

en:spontaneously resolves by 5 to 6 months of age

•

en:most common muscle disease of older persons

•

en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants)

•

en:diabetes diagnosed in second or third decade of life

•

en:most cases result from de novo mutation or deletion of rai1 (607642)

•

en:may be lethal in infancy

•

en:may be benign condition

•

en:laboratory findings are variable

•

en:incidence of 1 in 40,000 infants worldwide

•

en:favorable response to lenalidomide treatment

•

en:bullae are located randomly in familial cases and apical in sporadic cases

•

en:both homozygous and heterozygous mutations in lrsam1 have been reported

•

en:a minority of patients have onset after age 30 years

•

en:age of onset 25-45 years of age (one patient presented with hearing loss at age 4)

•

en:about 5% of patients have a history of febrile seizures

•

en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:variable response to vitamin b12 therapy

•

en:variable phenotype within and between oi5 families

•

en:three patients have been reported

•

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

•

en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900)

•

en:allelic disorder to nieman-pick disease type b (607616)

•

en:variable phenotype (myotonia may or may not be present)

•

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

•

en:tumor predisposition syndrome

•

en:three affected sibs have been reported

•

en:patients retain ambulation even after long disease course

•

en:patients develop aortic dissection with little or no aortic enlargement

•

en:onset of episodic liver failure in first 2 years of life

•

en:onset of achalasia in infancy or early childhood

•

en:increased tendency to chromosomal nondisjunction

•

en:incomplete penetrance (50%)

•

en:prevalence of 1 in 50,000-70,000 live births

•

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

•

en:based on report of 1 family (last curated october 2014)

•

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

•

en:family a had a severe multisystem disorder resulting in death before age 2 years

•

en:autosomal recessive inheritance has been reported (see 601253.0010)

•

en:autosomal recessive inheritance with decreased penetrance (50%) is associated with a susceptibility locus on chromosome 10q26

•

en:based on 1 4-generation chinese family

•

en:candidiasis is restricted to nails of hands and feet

•

en:crisis precipitated by high altitude exposure

•

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

•

en:death in third or fourth decades, usually due to respiratory infection

•

en:distinct disorder from galactosemia (230400)

•

en:distinct disorder from parkinson disease (168600)

•

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

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en:patients may have benign course until late adulthood

•

en:one han chinese family and one german family have been described (last curated april 2015)

•

en:onset in first or second decade (range 4 to 13 years)

•

en:onset in second to fifth decade

•

en:onset prenatally or at birth

•

en:overall prevalence is between 0.5 and 14 per 100,000 people per year

•

en:seventy percent of cases have associated anomalies

•

en:peak age of onset in second decade

•

en:presentation between 6-18 months

•

en:reduced fertility

•

en:seizures tend to become more focal with age

•

en:seizure frequency decreases during early childhood

•

en:some female carriers are more mildly affected

•

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

•

en:number of episodes varies from 1 to many (up to 20)

•

en:one family and an unrelated patient have been reported (last curated july 2014)

•

en:allelic to senior-loken syndrome 6 (610189) and leber congenital amaurosis type x (610142)

•

en:neurologic features occur later in childhood

•

en:death in early childhood

•

en:symptoms appear in early childhood and are progressive

•

en:78% due to chromosome 14 maternal uniparental disomy

•

en:adult onset (third decade)

•

en:age-related clinical course

•

en:chromosomal hypersensitivity to ionizing radiation and alkylating agents

•

en:clonazepam and diazepam may be effective in preventing or lessening severity

•

en:death in infancy due to hyperthermia or apnea

•

en:mean age at onset 11.4 years (range 4 to 35)

•

en:exercise intolerance often evident in childhood

•

en:genetic heterogeneity (see bscl1, 608594)

•

en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734)

•

en:genetic heterogeneity (see mcc2 deficiency 210210)

•

en:hair tends to straighten by 2nd-3rd decade

•

en:inheritance may be x-linked dominant

•

en:madelung deformity more frequent and more severe in females

•

en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14

•

en:mean age of onset 50.2 years

•

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

•

en:patients are 46,xy individuals who may be phenotypically female

•

en:occurs much more commonly in women

•

en:often confused with tuberous sclerosis (191000)

•

en:one patient has been reported (last curated july 2012)

•

en:onset at 4 to 9 weeks of age

•

en:onset in infancy after normal birth and neonatal period

•

en:overlapping clinical spectrum and allelic to masa syndrome (303350)

•

en:pathogenic alleles contain greater than 41 repeats

•

en:polyhydramnios

•

en:no opportunistic infections

•

en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years

•

en:seizures are refractory

•

en:subtype of migraine with aura

•

en:two unrelated consanguineous families have been reported (last curated march 2015)

•

en:two unrelated families have been reported (as of july 2011)

•

en:variable clinical features

•

en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic)

•

en:variable severity that correlates with rate and magnitude of neuronal protein accumulation

•

en:symptoms precipitated by sudden movement, stress, exertion, fatigue

•

en:nontruncating (missense) lamb2 mutations may display variable phenotypes ranging from a milder variant of pierson syndrome to isolated congenital nephrotic syndrome

•

en:deafness is presenting symptom

•

en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes

•

en:two consanguineous turkish families have been reported (as of august 2011)

•

en:type iiib liver involvement only (15% of all cases)

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en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:allelic to deafness, autosomal recessive 1, (220290), deafness, autosomal dominant 3, (601544), keratoderma, palmoplantar, with deafness, (148350), keratitis-ichthyosis-deafness syndrome, (148210), hystrix-like ichthyosis with deafness, (602540), bart-

•

en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype

•

en:performing laboratory medical director:id:pt:facility:nom

•

en:death in first-second decade of life secondary to cardio-respiratory compromise

•

en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700)

•

en:death usually occurs by 12 months of life

•

en:features occur episodically

•

en:female carriers may have asymptomatic proteinuria or hypercalciuria

•

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

•

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

•

en:death may occur in childhood due to respiratory failure

•

en:liver functions return to normal after 3 to 4 months

•

en:lymphedema resolves by age 3 years

•

en:more prevalent in females

•

en:neuromuscular forms can present as perinate, infant, child, or adult

•

en:occasionally low-dose insulin required

•

en:onset in early childhood (age 3)

•

en:onset usually in the first 4 years of life

•

en:onset in teens or early twenties

•

en:onset of hyperuricemia or gout in young adulthood

•

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

•

en:pneumocytosis carinii infection (12 to 42%)

•

en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns

•

en:poor response to g-csf treatment

•

en:liver disease may be the most predominant finding

•

en:cardiac manifestations are often fatal

•

en:genetic heterogeneity (see fhm1 141500 and mgr6 607516)

•

en:females often show milder phenotype with later onset of cardiac symptoms

•

en:early onset of symptoms

•

en:dopa-unresponsive

•

en:diagnosis rarely made before the fourth decade of life

•

en:de novo mutation in most patients

•

en:de novo mutations occur almost exclusively on the paternally derived x chromosome

•

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

•

en:chronic disease

•

en:bone abnormalities improve with age

•

en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700)

•

en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500)

•

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

•

en:age:time:pt:^egg donor:qn

•

en:reported in individuals of french canadian origin

•

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

•

en:two unrelated patients have been reported (as of may 2011)

•

en:static or slowly progressive

•

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

•

en:two families have been reported (last curated april 2014)

•

en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype

•

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

•

en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood

•

en:partial factor viii deficiency in heterozygous carriers

•

en:onset of renal dysfunction in early childhood

•

en:males died in neonatal period

•

en:limb-girdle muscular dystrophy type 2l (lgmd2l, 611307) is an allelic disorder

•

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

•

en:incidence 1-1.5/1,000 live births

•

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

•

en:family history of sudden death, as early as fourth decade of life

•

en:excessive skin picking of sores

•

en:early death from respiratory failure may occur

•

en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers

•

en:disease shows slow progression

•

en:variable severity, even within families

•

en:clinical overlap with distal hereditary motor neuropathy type vii (dhmn vii, 158580)

•

en:twenty-five percent of affected babies are stillborn

•

en:two subtypes, episodic (85% of patients) and chronic (15%)

•

en:three unrelated girls have been reported (as of july 2011)

•

en:variable expressivity, even within families

•

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

•

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

•

en:brainstem, cerebellum, anterior inner rim of the corpus callosum, posterior limb of the internal capsule and the external capsule, and anterior inner rim of the corpus callosum may show disease involvement on mri

•

en:allelic disorders with clinical overlap include dss and cmt1b (118200)

•

en:allelic to type i osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type ii van buchem disease (607636), and high bone mass (601884)

•

en:based on report of 2 unrelated japanese girls (last curated october 2015)

•

en:bimodal age of onset

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en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:some patients do not achieve independent ambulation

•

en:symptoms improve following sleep

•

en:trauma, anxiety, and/or stress can precipitate or aggravate edema

•

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

•

en:usual onset under age 30 years

•

en:variable age at onset, ranges from third to fifth decade of life

•

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

•

en:insulin dependent diabetes mellitus:prthr:pt:^patient:ord

•

en:adult onset of muscle symptoms

•

en:pyogenic arthritis, pyoderma gangrenosum and acne

•

en:six genetically confirmed patients have been reported (as of december 2009)

•

en:one patient has been reported (last curated may 2012)

•

en:prevalent in quebec

•

en:prevalent in bulgarian gypsies

•

en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period

•

en:patients with longer disease duration show motor neuron involvement

•

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

•

en:onset in fourth and fifth decades

•

en:mean age at onset 22 years (range 7 to 50 years)

•

en:high prevalence among individuals of portuguese descent

•

en:headaches last hours to days

•

en:dramatic late catch-up growth occurs in adolescence

•

en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies

•

en:autosomal recessive cases have been reported

•

en:bleeding after trauma or surgery

•

en:approximately half of cases are due to unbalanced rearrangements, which may be familial

•

en:death often in childhood

•

en:caused by inheritance of the mutation on the paternal allele (imprinting)

•

en:onset in first decades (males)

•

en:codominant inheritance has been suggested

•

en:two unrelated families have been reported (last curated august 2013)

•

en:two complementation groups - pcca (secondary to defects in the alpha chain of pcc, 232000) and pccbc (secondary to defects in the beta subunit of pcc, 232050)

•

en:therapy-induced dyskinesias

•

en:stage iii, pseudostationary period (onset 2-10 years)

•

en:some patients have no manifestations

•

en:resembles intrauterine torch infection but without intrauterine infection

•

en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency

•

en:peak age of onset in second decade (range childhood to 50 years)

•

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

•

en:onset of disease 3-30 years

•

en:relatively mild cutis laxa, associated with severe vascular abnormalities

•

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

•

en:itch, pain, and body malodor often

•

en:diagnosed in second or third decade of life

•

en:one family from hong kong has been reported (last curated october 2014)

•

en:fish can be used to detect deletions of 4p16.3, the critical region for the phenotype

•

en:gender-specific phenotype (homozygous men are fertile)

•

en:genetic heterogeneity (see mcc1 deficiency 210200)

•

en:high prevalence among individuals of middle eastern or african descent

•

en:liver involvement can range from mild to severe

•

en:liver symptoms improve with age and disappear after puberty

•

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

•

en:motor skills less affected than cognitive skills

•

en:occurs in about 1 in 10,000 births

•

en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase

•

en:loss of ambulation

•

en:may be triggered by minor head trauma

•

en:may result in early death

•

en:mean age of onset 30 years (range first to seventh decade)

•

en:survival to 5-15 years of age

•

en:one consanguineous turkish family has been reported (last curated march 2016)

•

en:onset in first decade (as early as infancy in some)

•

en:onset of symptoms in the fourth to sixth decade of life

•

en:present at birth

•

en:severity of hematologic disorder decreases with advancing age

•

en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup

•

en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness

•

en:affected individuals remain ambulatory in old age

•

en:highly variable expression

•

en:females demonstrate lyonization with corresponding phenotypic variation

•

en:cold temeratures exacerbate symptoms

•

en:clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies

•

en:chronic, relapsing condition

•

en:cause of death usually due to respiratory failure before adulthood

•

en:based on report of 2 individuals (last curated november 2013)

•

en:autosomal recessive inheritance has been reported

•

en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia

•

en:all reported cases have de novo mutations (last curated october 2014)

•

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

•

en:affected males have normal pubertal development and are fertile

•

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

•

en:affected individuals may have biallelic or heterozygous mutations

•

en:two unrelated patients have been reported (last curated september 2013)

•

en:rare survival to teens

•

en:visual acuity varies from 20/20 to no light perception

•

en:neonatal severe hyperparathyroidism in homozygotes (239200)

•

en:service comment 61:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:variable age at onset (infant to adult)

•

en:two subtypes - seminoma and nonseminoma

•

en:treatment with betaine, especially for pyridoxine nonresponders

•

en:some patients do not develop renal failure

•

en:skin abnormalities tend to decrease with age

•

en:seven patients from 4 families in israel have been reported (last curated july 2015)

•

en:prevalence in norway is 1 in 80,000

•

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

•

en:onset in late teens to early forties

•

en:one family reported (last curated may 2013)

•

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

•

en:nova scotian variant (type d) is considered a genetic isolate of npc1 and is associated with a mutation in the npc1 gene (607623.0004)

•

en:see also oca1a (203100)

•

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

•

en:existence as a distinct entity is not confirmed

•

en:communication board, non-electronic augmentative or alternative communication device

•

en:mean age at onset of proximal muscle weakness, 31 years

•

en:childhood or adolescent onset, protracted, with myopathy and neuropathy

•

en:clinical and biochemical abnormalities improve with age

•

en:death in utero or in early infancy is common

•

en:early age of onset

•

en:death usually due to renal failure by average age 3

•

en:fatal outcome if untreated

•

en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333)

•

en:high prevalence in japan

•

en:infantile onset (in 1 patient)

•

en:in some patients, qtc interval is prolonged only during exercise testing

•

en:mean age at onset 41 years (range 18 to 61)

•

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

•

en:pigmentation not always butterfly-shaped

•

en:one patient was asymptomatic and detected by neonatal screening

•

en:onset 6 to 12 months

•

en:onset first to seventh decade with 30 to 40 year mode

•

en:perinatal lethal

•

en:phenotypic similarities to noonan syndrome (163950)

•

en:two unrelated patients have been reported (last curated august 2013)

•

en:progresses through puberty, then stabilizes

•

en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea

•

en:see also the autosomal recessive form (243000)

•

en:some patients may benefit from coenzyme q10 treatment

•

en:symptoms present from infancy or early childhood

•

en:tremor is aggravated by low glucose or light

•

en:(1) classic severe (onset of symptoms 4 to 7 days of age)

•

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

•

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

•

en:age at onset from 3 to 51 years (mean 19.2 years)

•

en:increased prevalence among smokers

•

en:average age at onset 19 years (range 5 to 38)

•

en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:adult onset (mid-forties)

•

en:allelic disorder to opitz-kaveggia syndrome (305450)

•

en:2 patients described

•

en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476)

•

en:autosomal recessive inheritance has been reported in 1 case

•

en:average age at onset between 40 and 50 years

•

en:hyperkeratosis often present at birth but may appear later

•

en:based on 1 uruguayan family (last curated april 2014)

•

en:complementation group b (represented by single atypical patient)

•

en:death in childhood

•

en:death in childhood often results from respiratory insufficiency

•

en:does not lead to hepatic failure

•

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

•

en:high incidence among old order amish

•

en:1 patient reported (last curated may 2012)

•

en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771)

•

en:absence seizures usually remit by puberty

•

en:preponderance of affected females (80%) to males

•

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

•

en:onset in infancy (3 to 7 months)

•

en:onset of contractures in utero

•

en:onset of spasticity by age 2 years

•

en:part of 'dent disease complex' (see 300009)

•

en:patients can have multiple seizure types

•

en:patients present at birth with respiratory distress or poor head control

•

en:recurrent acute episodes

•

en:nonsyndromic

•

en:see also pseudohypoparathyroidism type ia (php1a, 103580)

•

en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080)

•

en:two unrelated families have been reported (last curated january 2014)

•

en:two unrelated japanese families have been reported (last curated september 2014)

•

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

•

en:variable expression

•

en:adults may be asymptomatic

•

en:one family with a proven mutation has been reported (last curated november 2015) molecular genetics : caused by mutation in the rna-binding motif protein, x chromosome gene (rbmx, 300199.0001)

•

en:three patients from 2 unrelated families have been reported (last curated august 2015)

•

en:nonreflex epilepsy may occur later in 16 to 38% of patients

•

en:body habitus becomes apparent in childhood

•

en:age at onset most often in childhood (first decade)

•

en:most patients require liver transplant in childhood

•

en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200)

•

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

•

en:autosomal recessive form (277720) has also been described

•

en:average onset 6 months (range 3-9)

•

en:based on the report of 1 japanese family (last curated july 2014)

•

en:attacks more common in women

•

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

•

en:juvenile myoclonic epilepsy (jme, 606904)

•

en:considered a normal variant

•

en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001)

•

en:exacerbation during febrile episodes

•

en:female to male ratio, 1:1

•

en:hearing loss was progressive in some patients

•

en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype

•

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

•

en:variable age at onset (range first to fourth decade)

•

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

•

en:variable age at onset (childhood to adulthood)

•

en:usual age of onset in the 20s and 30s

•

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

•

en:variable age at onset, but usually in childhood

•

en:usually sporadic, but 1-2% of cases are familial

•

en:usually lethal in the neonatal period

•

en:variable age of onset, ranging from 11 to 50 years

•

en:usually fatal in infancy

•

en:variable age at onset (range teens to late adult)

•

en:waddling gait, often presenting sign in second year

•

en:variable age of onset (infancy to 63 years)

•

en:variable age of onset of parkinsonism (first decade to adulthood)

•

en:variable cataract phenotypes within a family

•

en:variable clinical severity

•

en:variable dysmorphic features

•

en:variable frequency and severity

•

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

•

en:variant at may present with dystonia only

•

en:wide phenotypic variability and severity

•

en:worldwide prevalence of 1/100,000

•

en:miscellaneous

•

en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 53:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:usually a sporadic disorder

•

en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015)

•

en:two unrelated patients with different phenotypes have been reported (as of march 2012)

•

en:three unrelated patients have been reported (last curated february 2016)

•

en:sudden cardiac death in some families

•

en:sudden death may occur

•

en:survival 30 to 40 years after onset

•

en:symptoms induced by strenuous exercise

•

en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes

•

en:symptom onset ranges from infancy to adulthood

•

en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support

•

en:the relationship of central core disease to moderate multiminicore with hand involvement is unclear, for a description of classic multiminicore disease, see 602771

•

en:three families have been reported (last curated november 2014)

•

en:three fetuses from 1 family have been reported (last curated august 2015)

•

en:(3) adult nonnephropathic (219750)

•

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

•

en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult

•

en:two unrelated families have been reported (last curated september 2015)

•

en:toe-walking gait

•

en:treatment with folinic acid offers some benefit for anemia and seizure control

•

en:treatment with serine and glycine replacement may alleviate features if started at birth

•

en:triggered by exercise, fasting, or other metabolic stresses

•

en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection

•

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

•

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

•

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

•

en:two patients with a wws phenotype have been reported

•

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

•

en:two unrelated families have been reported, 1 showing autosomal dominant inheritance and 1 showing autosomal recessive inheritance (last curated february 2014)

•

en:two unrelated families have been reported (as of october 2010)

•

en:two unrelated families have been reported (last curated february 2014)

•

en:blood glucose monitor with integrated lancing/blood sample

•

en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820)

•

en:2-3% due to imprinting defects

•

en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision

•

en:based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016)

•

en:benign trait

•

en:brain anomalies variable

•

en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy'

•

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

•

en:carrier frequency in finland 1/40

•

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

•

en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects

•

en:changes more marked in hands than feet

•

en:childhood onset may occur

•

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

•

en:clinical severity varies

•

en:congenital onset

•

en:based on report of 2 individuals in 1 consanguineous family (last curated may 2014)

•

en:contiguous gene deletion syndrome (in most patients)

•

en:course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation

•

en:death between 2 years of age and young adulthood

•

en:death in first days or months of life

•

en:death in infancy common for patients with the classic neonatal form

•

en:death in utero

•

en:death usually in the perinatal period

•

en:delta-f508 present in 70% of alleles

•

en:detected in 1/50,000 in neonatal screening programs

•

en:de novo mutation

•

en:de novo mutation in some cases

•

en:diagnosis occurs between 23 and 33 weeks' gestation

•

en:distinct disorder from acquired limb-girdle myasthenia (159400) and congenital limb-girdle myasthenia (254300)

•

en:based on report of 2 probands (last curated october 2014)

•

en:based on report of 2 affected brothers in 1 family (last curated october 2015)

•

en:21% of hereditary wilms tumor are bilateral

•

en:allelic disorder to the zlotogora-ogur syndrome (225000)

•

en:40% patients have associated abnormalities

•

en:accounts for <2% of patients with alzheimer's disease

•

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

•

en:adult onset form usually presents with psychiatric manifestations

•

en:adult onset may occur

•

en:affected infants die in neonatal period

•

en:age at onset 3 to 23 years

•

en:age of onset 28 to 70 years

•

en:allelic disorder is long qt syndrome-3 (lqt3, 603830)

•

en:allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, 604292)

•

en:allelic disorder to juvenile amyotrophic lateral sclerosis 2 (als2, 205100)

•

en:allelic disorder to long qt syndrome-1 (lqt1, 192500)

•

en:allelic to acrokeratosis verruciformis (101900)

•

en:based on report of 1 family with 7 affected members

•

en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900)

•

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

•

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

•

en:spontaneous reversal of gnrh deficiency may occur in some patients

•

en:allelic with smith-mccort dysplasia (607326)

•

en:anemia may show favorable response to alpha-interferon treatment

•

en:as of 2009, one family has been reported

•

en:ataxia is nonprogressive

•

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

•

en:average age at onset is 24 years (range 4 to 58 years)

•

en:basal cell neoplasms develop after second decade

•

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

•

en:based on report of 1 3-generation family (last curated november 2014)

•

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

•

en:sensorineural hearing loss may be presenting feature

•

en:spontaneous resolution usually after 12 months of age

•

en:onset in childhood or adolescence (median age of 9 years)

•

en:one patient with severe congenital onset has been reported

•

en:one report of brother and sister from nonconsanguineous parents

•

en:onset - present at birth

•

en:onset 2-4 years of age in iia

•

en:onset 3rd to 4th decade of life

•

en:onset after age 20 years

•

en:onset before 10 years of age in all patients

•

en:onset before age 2 years

•

en:onset between 6 and 16 years of age

•

en:onset between 7 and 18 years

•

en:onset in adolescence or adulthood has been reported

•

en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness

•

en:onset in childhood or early adolescence

•

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

•

en:onset in childhood or second decade

•

en:onset in childhood with exacerbation during puberty

•

en:onset in early infancy

•

en:onset in infancy (average 4 months, but may be earlier)

•

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

•

en:onset in infancy or first years of life

•

en:onset in neonatal period or early infancy

•

en:onset in second decade or as young adult

•

en:onset in the 3rd decade of life or later

•

en:onset in the first decade (range birth to 8 years)

•

en:onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies

•

en:onset in utero or in infancy

•

en:onset of blistering skin in infancy with improvement over time

•

en:one patient reported (last curated november 2012)

•

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

•

en:onset of dementia in the thirties or forties

•

en:neonatal/infantile death in most patients

•

en:mild disease course

•

en:mild features such as digital clubbing may be apparent in older heterozygotes

•

en:mild manifestations in carrier females (cleft lip, cleft tongue)

•

en:most cases are caused by mutation in the phox2b gene

•

en:most common age of clinical onset ranges from 16 to 33 years

•

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

•

en:most patients become wheelchair-bound in later childhood

•

en:most patients have no bleeding abnormalities

•

en:most patients require liver transplantation within the first year of life

•

en:motor fluctuations

•

en:multiple prenatal fractures

•

en:mutation in the hcrt gene has been identified in 1 patient

•

en:neonatal onset of nephrotic syndrome

•

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

•

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

•

en:no abdominal symptoms or neurologic symptoms in harderoporphyria

•

en:no family history, de novo mutations

•

en:no features consistent with cystic fibrosis found in these patients

•

en:no response to phenobarbital

•

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

•

en:occurs in the absence of trauma

•

en:one 3-generation danish family reported (last curated march 2015)

•

en:one compound heterozygous patient reported (last curated february 2015)

•

en:one consanguineous omani family with a kif7 mutation has been described (last curated january 2016)

•

en:one family has been reported (as of september 2011)

•

en:one family of french-canadian origin has been reported (last curated july 2015)

•

en:one korean family has been reported (as of november 2011)

•

en:onset of bone fragility in childhood

•

en:onset of hand involvement at 14 to 60 years

•

en:some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes

•

en:severe hearing loss by age 50 years

•

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

•

en:recurrent episodes of liver failure during intercurrent infections

•

en:reduced life expectancy

•

en:responsive to vitamin b12 therapy

•

en:risk haplotype found in dutch families

•

en:risk of sudden death with exertion

•

en:secondary prevention, avoid smoking, alcohol, and oxidants

•

en:see also a childhood-onset form (114100)

•

en:see also infantile (600649) and late-onset (255110) cpt ii deficiency

•

en:see also the x-linked form (300291)

•

en:dopa-responsive rigidity

•

en:severe epilepsy may lead to early death

•

en:severity of phenotype may vary with x-inactivation patterns and/or mutation type

•

•

en:sexual infantilism

•

en:short survival (less than 10 years after onset)

•

en:six patients from 4 families have been reported (last curated january 2015)

•

en:skin blistering and photosensitivity improve in adulthood

•

en:skin lesions exacerbated by heat, exercise (sweating), and sunlight

•

en:slowly progressive disease

•

en:some patients are asymptomatic and diagnosed incidentally

•

en:some patients have only plantar surface involvement

•

en:some patients may have normal development until onset of seizures in infancy

•

en:some patients may not have recurrent infections

•

en:some patients require cardiac transplantation

•

en:some patients show delayed development from birth

•

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

•

en:ptosis is usually presenting feature

•

en:primary teeth affected greater than secondary teeth

•

en:onset of lipodystrophy later in childhood

•

en:patients present with groin pain

•

en:onset of symptoms 2-6 years of age

•

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

•

en:onset usually after viral-like infection

•

en:onset usually within first weeks of life

•

en:onset within first 6 months of life

•

en:oral supplementation with ubiquinone does not result in major clinical improvement

•

en:pathogenic alleles contain 52 to 86 repeats

•

en:pathogenic alleles contain 75-11,000 repeats

•

en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root

•

en:patients may become wheelchair-bound

•

en:patients may become wheelchair-bound as adults

•

en:patients need support with walking or are wheelchair-bound

•

en:patients often become wheelchair-bound 3 to 4 decades after onset

•

en:patients walk on tips of toes with dorsal foot deviated laterally

•

en:prevalence of 1 in 30,000 in northern europe

•

en:patients with recessive mutations have a more severe phenotype

•

en:peak age of onset in second decade (range childhood to 76 years)

•

en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder

•

en:peripheral neuropathy occurs in adulthood

•

en:persistence of febrile seizures beyond age 6 years

•

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

•

en:poor response to levodopa treatment

•

en:possible autosomal dominant (165199) and autosomal recessive (258650) forms

•

en:precipitated by fever

•

en:prelingual onset

•

en:present in jewish yemenite population

•

en:prevalence 1 in 1,250

•

en:prevalence of 19 in 1,000,000 in sweden

•

en:distinct disorder from familial erythrocytosis (ecyt1, 133100)

•

en:genetic anticipation

•

en:earlier onset is rare

•

en:see also benign neonatal epilepsy (ebn1, 121200)

•

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

•

en:progression more frequent in men than women

•

en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade

•

en:progressive disease is seen in some patients

•

en:rarely reported in infants

•

en:regression in infancy (in some patients)

•

en:relief is achieved by cooling or by elevating the extremities

•

en:risk of thromboembolic stroke

•

en:sando (607459) is a phenotypic variant of autosomal recessive peo

•

en:see also autosomal dominant lutheran-null phenotype (111150)

•

en:see also autosomal form, 146450, and another x-linked form, 300633

•

en:see also autosomal recessive peob (258450)

•

en:see also distal hmn2a (158590)

•

en:prevalence much higher in whites than blacks

•

en:see pkd1 (601313) due to mutation in polycystin 1 (601313), pkd2 (173910) due to mutation in polycystin 2 (173910), and pkd3 (600666)

•

en:seizures are sensitive to hyperventilation

•

en:several forms of autosomal recessive spastic paraplegia (see 270800)

•

en:severity of clinical phenotype varies both within and between kindreds

•

en:sex ratio - 2.3 males-to-1 female

•

en:short stepped shuffling gait

•

en:single lesions in sporadic cases

•

en:six patients have been reported (5/18/2011)

•

en:skeletal and endocrine features have not been fully characterized in all of the patients reported

•

en:skin lesions on back, face, nape of neck, and waist tend to be mild

•

en:slc25a4 mutations account for approximately 4% of all peo cases

•

en:smcci can be an isolated anomaly, part of a syndrome or association as in vacterl (192350) and charge (214800), part of autosomal dominant holoprosencephaly spectrum such as in hpe3 (142945), hpe2 (157170), and hpe4 (142946), or a feature in chromosoma

•

en:some heterozygous carriers exhibit accelerated age-related hearing loss

•

en:prevalence of true hypoprothrombinemia is 1 in 2 million

•

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

•

en:some patients experience respiratory infections in association with episodes of jaundice in childhood

•

en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype

•

en:onset of disease around 10 years of age

•

en:onset of lymphedema before puberty

•

en:onset of neurologic symptoms often by 30 months

•

en:onset of palmoplantar hyperkeratosis 7-8 years of age

•

en:onset of proteinuria in the second to fourth decades

•

en:onset of scoliosis as early as 2 years of age

•

en:onset of symptoms in adolescence or early adulthood

•

en:onset of symptoms in first decade of life

•

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

•

en:onset soon after birth or within the first year of life

•

en:onset usually in second or third decades

•

en:oral contraceptives may also cause symptoms

•

en:overall course less severe compared to patients with cfh (134370) mutations

•

en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal)

•

en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems

•

en:patients may become wheelchair-bound after about 12 years

•

en:patients may require implantable cardioverter defibrillators

•

en:pectus carinatum present in obligate carrier mothers

•

en:phenotypic overlap with revesz syndrome (268130)

•

en:phenotypic overlap with wagr syndrome (194072), frasier syndrome (136680)

•

en:phenotypic variability

•

en:poor response to the c5 inhibitor eculizumab

•

en:possible x-linked recessive inheritance

•

en:prelingual onset in males

•

en:presentation after 18 months

•

en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia

•

en:presents at birth or early childhood

•

en:some patients do not have bone disease

•

en:some patients have subclinical exocrine pancreatic deficiency

•

en:onset may occur in adulthood

•

en:variable age at onset (birth to adolescence)

•

en:two unrelated families have been reported (last curated july 2014)

•

en:two unrelated families have been reported (last curated may 2014)

•

en:two unrelated japanese patients have been reported (last curated may 2012)

•

en:two unrelated patients have been reported (last curated april 2013)

•

en:two unrelated patients have been reported (last curated december 2012)

•

en:two unrelated patients have been reported (last curated february 2015)

•

en:two unrelated patients have been reported (last curated march 2014)

•

en:two unrelated patients have been reported (last curated october 2012)

•

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

•

en:u.s. frequency higher in blacks than whites

•

en:upper limb involvement in first decade

•

en:usually fatal

•

en:variable age at onset (childhood to age 50)

•

en:two patients have been reported

•

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

•

en:variable age at onset (usually 20 to 30 years of age)

•

en:variable age at onset of arrhythmia (range 12 to 59 years)

•

en:variable age of onset, from early childhood to seventh decade of life

•

en:variable clinical presentation that may change with age

•

en:variable frequency (daily to monthly)

•

en:variable phenotypic features cataloged depending on development of fetus or infant

•

en:variable progression rate

•

en:variable severity, correlates with age at onset

•

en:variable severity and progression

•

en:variable severity in symptoms among affected individuals within a family as well as among families with same mutation

•

•

en:young adult onset

•

en:two unrelated consanguineous families have been reported (last curated july 2015)

•

en:two main phenotypes, metabolic and neurologic

•

en:some patients may become wheelchair-bound

•

en:symptoms present as acute metabolic and clinical decompensation associated with infection

•

en:some patients may be asymptomatic

•

en:some patients may die from cardiomyopathy in the first or second decade of life

•

en:some patients show a favorable response to sulfonylurea treatment

•

en:some patients with onset of severe disease in infancy are diagnosed with leber congenital amaurosis, whereas other patients with childhood onset of less severe retinal dystrophy are diagnosed with retinitis pigmentosa

•

en:subset of patients have leigh syndrome (256000)

•

en:sudden cardiac death frequent in affected families

•

en:sudden death in affected males occurs in teens

•

en:sudden death secondary to impaction of medulla oblongata

•

en:surgical intervention is not always curative

•

en:survival greater than one year rare

•

en:symptoms benefit from sleep

•

en:symptoms improve with age, resulting in woolly hair with almost normal hair density

•

en:symptoms remain focal

•

en:two loci control synthesis of c4, c4a (120810) and c4b (120820)

•

en:telangiectasia become evident between the second and eighth year of life

•

en:three subtypes of pfeiffer syndrome have been described - type 1: 'mild' autosomal dominant

•

en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015)

•

en:three unrelated families have been reported (last curated january 2015)

•

en:three unrelated patients have been reported (last curated january 2010)

•

en:three unrelated probands have been reported (last curated january 2016)

•

en:thromboembolism is the most common cause of death

•

en:thyroid carcinoma

•

en:tremor may be elicited by movement or postural maintenance

•

en:tumors may show spontaneous regression

•

en:two families each with two affected children have been reported (last curated april 2015)

•

en:two families have been reported (september 2010)

•

en:two families of french-canadian origin have been reported (last curated december 2012)

•

en:onset of chronic progressive polyneuropathy in late childhood

•

en:onset in third or fourth decades

•

en:earliest age of onset 12 years of age

•

en:initial development may appear normal

•

en:high occurrence of de novo mutations

•

en:hypertension is presenting sign

•

en:hyponatremia usually associated with gastroenteritis

•

en:incidence in finland is 1 in 76,000 births

•

en:incidence of 1 in 250,000 births

•

en:incidence of 1 in 5,000 to 1 in 10,000

•

en:incidence of 1 per 10,000 births in japan

•

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

•

en:incidence of mh in anesthetized children is 1 in 15,000

•

en:incomplete penetrance in females

•

en:incomplete penetrance of optic atrophy

•

en:inheritance pattern is unclear

•

en:intracellular accumulation of material can occur in neuronal and nonneuronal cells

•

en:highly variable phenotype in females

•

en:intrafamilial variability in nail changes

•

en:keratitis-ichthyosis-deafness syndrome

•

en:late-adult onset

•

en:later onset of optic atrophy (mean 19 years, range 5 to 50 years)

•

en:left side involvement associated with serious cardiac defect

•

en:lesions are present at birth or become apparent in infancy

•

en:lifetime risk of breast cancer in mutation carriers is 80 to 90%

•

en:limited clinical information provided

•

en:majority of affected individuals are female (85%)

•

en:majority of cases have bilateral involvement

•

en:marked heterogeneity

•

en:maternal anticipation bias

•

en:maternal imprinting

•

en:high frequencies affected before low frequencies

•

en:highly variable phenotype, ranging from neonatal encephalopathy to mild mental retardation with autistic features

•

en:may be present in asymptomatic adults

•

en:female to male ratio 8-13:1

•

en:early death (usually by 3 years of age)

•

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

•

en:episodes are triggered by fatigue, illness, or strenuous exercise

•

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

•

en:estimated carrier frequency in charlevoix-saguenay region is 1/22

•

en:estimated frequency 1/2000-1/4000 individuals

•

en:familial cases are rare and show incomplete penetrance

•

en:favorable response to antibodies against tnf-alpha (tnfa, 191160)

•

en:favorable response to anticonvulsants

•

en:favorable response to rituxan (in some patients)

•

en:features are variable

•

en:females have milder manifestations than males

•

en:forty percent of patients die in the first year

•

en:highly variable dysmorphic features

•

en:founder effect in irish traveler population

•

en:frequency 1/100,000 - 1/130,000 live births

•

en:generalized fatigue

•

en:genetic heterogeneity

•

en:genetic heterogeneity, see ppnad1 (610489)

•

en:genetic heterogeneity (bor2, 610896)

•

en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791)

•

en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078)

•

en:genetic heterogeneity (see lgmd1a 159000 for overview)

•

en:genetic heterogeneity (see mada, 248370)

•

en:gonadal mosaicism reported

•

en:hearing loss and ocular findings are variable

•

en:heterozygous mutation carriers may have late-onset of mild symptoms

•

en:may be lethal in infancy if untreated

•

en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents

•

en:onset in the second or third decade of life

•

en:onset between 5 and 20 years

•

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

•

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

•

en:one large spanish family and 1 unrelated patient have been reported (last curated june 2014)

•

en:one patient has been reported (as of march 2011)

•

en:one patient with normal psychomotor development has been reported (last curated december 2012)

•

en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons

•

en:onset 5 to 7 years

•

en:onset age 14-28 years

•

en:onset at 5-24 months

•

en:onset at 6-9 months

•

en:onset before adolescence

•

en:onset between 15 and 27 years

•

en:onset between 7 and 27 years of age

•

en:one family has been reported (as of july 2011)

•

en:onset between ages 12 and 20 years

•

en:onset between age 30-50 years

•

en:onset in adolescence or adulthood

•

en:onset in childhood (3 to 10 years)

•

en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18)

•

en:onset in early childhood (4 to 5 years)

•

en:onset in first 2 decades of life

•

en:onset in infancy and third decade had been reported

•

en:onset in infancy or in the first months of life

•

en:onset in lower limbs

•

en:onset in middle age (44 to 60 years)

•

en:onset in the fourth to sixth decades (mean 40 years)

•

en:onset in the perinatal period

•

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

•

en:one family has been reported (as of january 2011)

•

en:mean age of onset 31 years (range 5-60)

•

en:neurologic symptoms may develop decades later

•

en:more common in men (9:1 male:female ratio)

•

en:more frequent in males

•

en:most individuals are asymptomatic

•

en:most patients are severely affected

•

en:most patients die in childhood

•

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

•

en:most pregnancies with affected fetuses resulted in elective termination

•

en:most severe type of von willebrand disease

•

en:mother had rubella infection during pregnancy with daughter

•

en:muscle symptoms precede cardiac symptoms

•

en:neonatal onset

•

en:neonatal or infant death

•

en:neurologic symptoms are not always present or may appear late

•

en:normal ability to tolerate heat

•

en:one family has been reported (as of august 2010)

•

en:normal sialophorin gene

•

en:no congenital form

•

en:no mutations reported in la reunion island patients (last curated august 2014)

•

en:no predisposition to skin tumor development

•

en:obligatory heterozygotes are clinically unaffected

•

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

•

en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011)

•

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

•

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

•

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

•

en:one family and 1 unrelated patient have been reported (last curated december 2015)

•

en:one family and 1 unrelated patient have been reported (last curated july 2013)

•

en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015)

•

en:mildly progressive

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6946085 • caches: c1=8 c2=1003 c3=1

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