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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C3275608

Associations d'idées

[F]

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1000

en:upper urinary tract usually normal

•

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

•

en:prevalence of 7 in 100,000 live births

•

en:prevalence approximately 1 in 4,000 males

•

en:phenotypic variability, intrafamilial

•

en:onset of hearing loss in late childhood

•

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

•

en:onset in childhood (mean 6 years)

•

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

•

en:neurologic signs last hours to days

•

en:most severe form of gaucher disease

•

en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation)

•

en:intracellular accumulation of material may not always be apparent

•

en:incomplete penetrance (about 80%)

•

en:hypothyroidism is less severe in individuals with high dietary iodine intake

•

en:severe epilepsy may lead to early death

•

en:highly variable expression

•

en:five patients have been reported (last curated december 2014)

•

en:excessive postsurgical blood loss

•

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

•

en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253)

•

en:a subset of patients have heterozygous mutations, which may predispose to disease development

•

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

•

en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670)

•

en:allelic disorder to glut1 deficiency syndrome 1 (606777)

•

en:acute attacks lasting 24-48 hours

•

en:about 20% of female mutation carriers may show mild muscle weakness

•

en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:see entry 104300 for general information on alzheimer disease

•

en:most patients are asymptomatic and are detected by newborn screening

•

en:some patients may be asymptomatic and have only short telomeres

•

en:often unilateral involvement

•

en:sudden infantile death may occur

•

en:two thirds of patients are female

•

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

•

en:skin peeling exacerbated by heat, friction, and humidity

•

en:risk of sudden death in childhood due to cardiac arrest

•

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

•

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

•

en:onset of contractures in utero

•

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

•

en:onset in infancy or early childhood (birth to 6 years)

•

en:onset in infancy (first hours to weeks of life)

•

en:one family of french-canadian origin has been reported (last curated august 2014)

•

en:subtle personality and behavioral changes are presenting signs

•

en:often confused with tuberous sclerosis (191000)

•

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

•

en:most (80 to 90%) of cases result from deletions of the sts gene

•

en:adult onset (before 50 years)

•

en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500)

•

en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003)

•

en:axial skeleton most commonly affected

•

en:allelic disorder to autosomal dominant form (129490)

•

en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580)

•

en:frequently fatal within the first year of life

•

en:hair regrowth may occur later in life

•

en:many cases due to de novo mutation

•

en:may occur cormorbidly with poland syndrome (173800)

•

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

•

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

•

en:progressive disorder due to secondary myopathy

•

en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150)

•

en:patients do not exhibit ophthalmoplegia

•

en:onset in teens to 20's

•

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

•

en:one family has been reported (as of april 2012)

•

en:majority of cases sporadic

•

en:likely allelic to sc phocomelia syndrome (269000)

•

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

•

en:blindness episodes are not associated with fhm episodes

•

en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del)

•

en:hearing loss may vary in severity and range between ears

•

en:generalized dystonia in some cases

•

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

•

en:death in early infancy (in some patients)

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en:death at 10 to 15 years

•

en:based on report of 2 sisters (last curated october 2012)

•

en:asymptomatic younger patients show characteristic basal ganglia calcifications

•

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

•

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

•

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

•

en:symptoms usually appear in adulthood

•

en:stillbirth

•

en:one family and 2 unrelated patients have been reported (last curated december 2015)

•

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

•

en:partially responsive to laser treatment

•

en:age of onset of upper limb involvement 10-43 years

•

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

•

en:symptoms usually induced only by strenuous exercise

•

en:some patients have persistence of seizures to adulthood, but then show remission

•

en:seizures resolve by 4 months of age

•

en:risk of thromboembolic stroke

•

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

•

en:rare adult onset

•

en:presents at birth or early childhood

•

en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene

•

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

•

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

•

en:marked phenotypic variability

•

en:dysmorphic facial features may not be present

•

en:early onset (average 1 year)

•

en:extremely variable phenotype

•

en:clinical variation

•

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

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en:good response to fibrinolytic inhibitors

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en:variable extraneurologic features

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en:infantile form usually leads to death by age 2 years

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en:later onset of neurologic features

•

en:mode of inheritance is uncertain

•

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

•

en:spasticity is slowly progressive

•

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

•

en:seizures are provoked by immersion in hot or warm water

•

en:onset of seizures in first months of life (usually 4 to 7 months)

•

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

•

en:onset in first 2 decades (range 6 to 15 years)

•

en:onset between 28-32 weeks of gestation

•

en:one of the 2 most common forms of oca in the world along with oca1

•

en:contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the dss1 (601285), dlx5 (600028), and dlx6 (600030) genes and possible regulatory elements in the region

•

en:males more affected than females (2 to 2.5:1)

•

en:left sided involvement occurs more frequently

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en:juvenile absence epilepsy (jae, 607631)

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en:insidious onset

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en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported

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en:death in majority of infants soon after birth

•

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

•

en:based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015)

•

en:based on four patients in a four generation family

•

en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801)

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en:allelic disorder to brachydactyly type b (113000)

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en:acute neurologic deterioration after viral illness has been reported

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en:variable age at onset, but usually in childhood

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

•

en:20% die before age one (usually secondary to renal or laryngeal defects)

•

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

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en:type 2n shows autosomal recessive inheritance

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en:three families of ashkenazi jewish descent have been reported (last curated march 2016)

•

en:symptomatic if > 200 repeats

•

en:some patients never achieve walking or running

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en:rapid disease progression from ages 40 to 50 years

•

en:present in infancy in all affected individuals

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en:preaxial involvement in approximately 60% of patients

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en:onset between the second and sixth decades

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en:onset between ages 5 and 15 years

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en:prevalence in caucasians is 1 in 1,000,000

•

en:no consistent dysmorphic facial phenotype

•

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

•

en:more severe in males than in females

•

en:affected females have been reported

•

en:cataracts develop by second decade of life

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en:female to male ratio 5:1

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en:acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes

•

en:incidence of 1 in 300,000

•

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

•

en:males died in neonatal period

•

en:more common in ashkenazi jews

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

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

•

en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out

•

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

•

en:no preceding skin inflammatory stage

•

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

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en:onset of disease within the first year of life

•

en:onset in first 6 months of life

•

en:onset in infancy (first year of life)

•

en:onset of hearing loss in second decade

•

en:onset of symptoms between ages 3-8 years of age

•

en:incomplete penetrance (range 13% to 77% by 50 years of age)

•

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

•

en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations

•

en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss

•

en:fifty percent of cases are sporadic

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en:fatal if renal transplant is not performed

•

en:death usually by 1 year of age

•

en:boys are more often affected than girls (3:2)

•

en:both heterozygous and homozygous mutations have been reported

•

en:association with autoimmune diseases

•

en:all patients have duplication of at least the crebbp gene (600140)

•

en:allelic to brachydactyly, type a1 (112500)

•

en:adult onset of symptoms has been reported

•

en:adolescent or adult onset associated with neuropsychiatric symptoms

•

en:3 reported cases, 1 pedigree of affected sibs, neither parent affected

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en:service comment 80:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:onset usually at 2 to 6 months of age

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en:allelic to dentin dysplasia, type 2 (125420)

•

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

•

en:normal ability to tolerate heat

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en:survival to 20 years in severe form

•

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

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en:positive response to treatment with growth hormone

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en:phenotypic overlap with parkinson disease

•

en:patients may present with either renal or neurologic symptoms

•

en:onset in second and third decades

•

en:one family reported (last curated may 2013)

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

•

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:some patients with advanced loss of vision have normal eog

•

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

•

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

•

en:maternal oligohydramnios

•

en:some phenotypic overlap with rett syndrome (312750)

•

en:subtle facial phenotype compared to other types of hpe

•

en:usually lethal in the neonatal period

•

en:usually sporadic disorder resulting from de novo 22q11.2 deletion

•

en:association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations.

•

en:a subset of patients may have congenital abnormalities of the ocular anterior segment

•

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

•

en:death by age 2 years

•

en:hair may normalize at puberty

•

en:slight male predominance (3:2)

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en:onset of disease before 7 years of age

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en:presenting symptoms in the upper body

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

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

•

en:allelic disorders with overlapping phenotypes include hereditary lymphedema type ii (153200), lymphedema and ptosis (153000), and yellow nail and lymphedema syndrome (153300)

•

en:tremor is aggravated by low glucose or light

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en:two of 6 patients became wheelchair-bound by age 20 years

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en:variable expressivity, even within families

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en:service comment 63: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 third decade

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en:onset of abnormal eye movements in early childhood

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en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood

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en:non-progressive or very slowly progressive

•

en:onset between 3 and 8 months of age

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en:onset after puberty

•

en:one palestinian family and one lebanese family have been described (last curated march 2016)

•

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

•

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

•

en:not all patients have a myopathy

•

en:most patients die in the neonatal period due to respiratory insufficiency

•

en:most patients die in the first days of life

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

•

en:long headache duration (greater than 12 hours)

•

en:early adult onset has been reported

•

en:a subgroup of patients with sponastrime dysplasia have severe mental retardation

•

en:associated with increasing age

•

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

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

•

en:all patients have severe hearing loss 10 to 15 years after onset

•

en:can also be caused by contiguous gene deletion on chromosome 22q11.2

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en:normal at birth

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en:x-linked recessive cytochrome b-negative cgd

•

en:visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin

•

en:variable expressivity

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en:stillborn or death in infancy

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en:sparing of some nails in some individuals

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en:rapidly progressive episodes

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en:precipitated by febrile illness and fasting

•

en:patients from old order amish community and turkey have been reported

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en:onset usually by age 2 years

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en:onset of symptoms after age 5

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en:onset between 6 and 9 months after normal early development

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en:progression more frequent in men than women

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en:mutation in rp9 gene in family (607331.0001) likely not pathogenic

•

en:genetic heterogeneity, see mgr1 (157300)

•

en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography.

•

en:most retain independent ambulation

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en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24

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en:deafness is presenting symptom

•

en:development of afebrile seizures later in childhood

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en:early death in patients with cloverleaf skull

•

en:genetic heterogeneity (see cmt4a 214400)

•

en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700)

•

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

•

en:lethal

•

en:mean age at onset 33 years (range 20-60)

•

en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis

•

en:see also mmab (251110)

•

en:onset of bleeding in infancy or early childhood

•

en:onset of hyperuricemia or gout in young adulthood

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en:onset of illness often associated with acute infection

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en:patients older than 60 years have severe degenerative arthritis in the feet

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en:risk haplotype found in dutch families

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en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:shields classification -

•

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

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en:variable expression of features

•

en:variable expressivity in families

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en:performing laboratory phone:tele:pt:facility:nom

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en:onset in second half of the first decade of life

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en:onset in utero or in infancy

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en:service comment 06:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:onset ages 2 to 14 years

•

en:most cases due to de novo mutation

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en:male-to-female ratio of 3:2 in childhood cases

•

en:increased paternal age

•

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

•

en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma)

•

en:hair phenotype present at birth and involves entire scalp region

•

en:death in untreated children

•

en:death in perinatal period

•

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

•

en:autosomal recessive inheritance has been reported

•

en:autosomal recessive form (240220)

•

en:autosomal recessive cytochrome b-positive cgd, type i (233700)

•

en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder

•

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

•

en:abnormal morphogenesis of first and second branchial arches

•

en:subset of patients have leigh syndrome (256000)

•

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

•

en:one patient had onset at age 4 months after normal development

•

en:body habitus becomes apparent in childhood

•

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

•

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

•

en:seizures may be triggered by infection

•

en:relationship of rare neuropsychiatric signs to histidinemia is unclear

•

en:reduced penetrance has been reported

•

en:recurrent acute episodes

•

en:precipitating factors - ingestion of wheat gluten, rye, and/or barley

•

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

•

en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels

•

en:onset usually in childhood

•

en:onset in first decade (average 5 years)

•

en:usually sporadic, few cases described with autosomal dominant inheritance

•

en:one large 3-generation irish family has been reported (last curated october 2014)

•

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

•

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

•

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:coronary artery disease or myocardial infarction in fifth or sixth decade of life

•

en:death at 13 to 30 years

•

en:death usually occurs in childhood

•

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

•

en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only

•

en:heterozygotes have plasma levels of triglycerides and/or hdl cholesterol that are intermediate between homozygotes and unaffected individuals

•

en:genetic anticipation

•

en:hearing loss is nonprogressive

•

en:hearing loss is variable

•

en:hearing loss occurs later if at all

•

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

•

en:onset of overgrowth in the first year of life (in most cases)

•

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

•

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

•

en:pneumocytosis carinii infection (12 to 42%)

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en:recurrence of symptoms after cholecystectomy

•

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

•

en:relatives with multiple small congenital pigmented nevi

•

en:telangiectases persist in adulthood

•

en:treatment with levodopa is not effective

•

en:usually fatal by age 5 years

•

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

•

en:onset of cough in early adulthood

•

en:elevated afp can be seen in other disorders

•

en:onset in childhood (range 4 to 12 years)

•

en:onset between 2 and 4 years of age

•

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

•

en:lethal in utero or in the perinatal period

•

en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified

•

en:four individual patients and 1 saudi family have been reported (as of february 2012)

•

en:favorable response to clonazepam

•

en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months)

•

en:dryness and impaired vision in older adults

•

en:both recessive and dominant inheritance have been reported

•

en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines)

•

en:also called 'heterozygous osmed' and 'autosomal dominant osmed'

•

en:age at diagnosis 24 +/- 18 years for dominant disease

•

en:variable frequency (2 per day up to 1 per month)

•

en:variable expression and severity

•

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

•

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

•

en:most individuals are asymptomatic

•

en:usually progressive

•

en:type i has most severe manifestations by age 4-5 years

•

en:type b characterized by dementia, motor disturbances, and facial dyskinesia

•

en:treatment with oral coenzyme q may ameliorate symptoms

•

en:trauma, im injection, surgery can be foci of ectopic ossification

•

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

•

en:phenotypic variation (may affect language expression, reception, and/or articulation)

•

en:patients can have multiple seizure types

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

•

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

•

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

•

en:mutation in npr2 results in gain-of-function

•

en:patients may or may not have dysmorphic features

•

en:microdeletion is approximately 1.5mb in length

•

en:distinct from pseudopili annulati (613241)

•

en:majority of cases are sporadic, some autosomal dominant families have been described

•

en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years)

•

en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect

•

en:broad-based gait

•

en:age at diagnosis 36 +/- 20 years

•

en:considered a normal variant

•

en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041)

•

en:favorable response to cholinesterase inhibitors

•

en:genetic heterogeneity (see rls2, 608831)

•

en:gonadal and somatic mosaicism reported in parent

•

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

•

en:independent ambulation is maintained

•

en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity

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en:responsive to vitamin b12 therapy

•

en:onset of alopecia in infancy

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en:onset of seizures around 7 to 12 years

•

en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system

•

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

•

en:prevalence of 0.5 to 1 in 1,000

•

en:three patients from 2 families have been reported (last curated december 2014)

•

en:skin and hair abnormalities apparent at birth

•

en:slow progression without marked disability

•

en:some patients can hold menial jobs

•

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

•

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

•

en:adult onset (range 45 to 70 years)

•

en:adult onset (thirties to forties)

•

en:onset between ages 2 and 5 years

•

en:21 patients from 17 kindreds reported (as of february 2012)

•

en:one french family has been reported (as of march 2012)

•

en:epiphyseal stippling is gone by 8 months of age

•

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

•

en:age of onset usually 1 week to 2 years

•

en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900)

•

en:allelic disorder to autosomal recessive hearing loss (dfnb2, 600060) and usher syndrome type ib (276900)

•

en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769)

•

en:death usually by age 3 years

•

en:favorable response to l-dopa

•

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

•

en:favorable response to treatment with riboflavin

•

en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677)

•

en:heterozygotes have half-normal levels of apob-containing lipoproteins

•

en:limb malformations are variable

•

en:majority of cases are male

•

en:no increased fragility of hair

•

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

•

en:onset in childhood or adolescence

•

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

•

en:prevalence of true hypoprothrombinemia is 1 in 2 million

•

en:one german family has been reported (as of september 2009)

•

en:onset of visual dysfunction in early childhood

•

en:onset usually in second decade (may occur earlier)

•

en:patients often require implantation of a pacemaker

•

en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features

•

en:possible gonadal mosaicism in one report

•

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

•

en:no extraocular findings

•

en:some pedigrees are consistent with autosomal dominant inheritance

•

en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain

•

en:sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons

•

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

•

en:two patients from 1 italian family have been reported (as of april 2010)

•

en:allelic to acrokeratosis verruciformis (101900)

•

en:two peaks of onset, childhood and adult

•

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

•

en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972)

•

en:normal sialophorin gene

•

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

•

en:mousy odor

•

en:allelic with dentinogenesis imperfecta 1 (125490) and dentin dysplasia, type ii (125420)

•

en:both heterozygous and homozygous pax3 mutations have been found

•

en:a second family had mild intellectual disability

•

en:forty percent of patients die in the first year

•

en:four clinically indistinguishable biochemically distinct forms

•

en:favorable response to antiepileptic medication

•

en:genetic heterogeneity (x-linked form 305100)

•

en:in general, men have more severe disease than women

•

en:late infantile onset 6-24 months

•

en:male infertility

•

en:may progress to other body regions after many years

•

en:mean age at diagnosis 8.8 years (range 0.2-23 years)

•

en:highly variable phenotype and age of onset

•

en:variable age at onset (range 25 to 78 years)

•

en:variability in age of onset and severity of disease

•

en:user syndrome type ii (congenital moderate-severe deafness, normal vestibular dysfunction, and onset of retinitis pigmentosa in late second to early third decade) - 3 loci

•

en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance

•

en:upper limb involvement may occur later

•

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

•

en:type iia tends to have more severe phenotype with earlier onset

•

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

•

en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism

•

en:some patients do not show neurologic abnormalities or dysmorphic features

•

en:variable ictal semiology

•

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

•

en:variable presentation

•

en:variable response to levodopa treatment

•

en:variable severity, some patients have a protracted course with little neurologic involvement

•

en:variable survival

•

en:variation in slc24a5 has also been associated with variation in skin color (shep4)

•

en:vhl type 2b - renal carcinoma and pheochromocytoma

•

en:warm weather and alcohol are alleviating factors

•

en:wasting of the hands is the first and most prominent manifestation

•

en:wheelchair-bound average 12 years after onset

•

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

•

en:two sibs have been reported (last curated november 2015)

•

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

•

en:symptomatic female carriers have been described in 1 japanese family

•

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

•

en:survivors develop dysautonomia-like symptoms

•

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

•

en:some patients have additional neurologic involvement

•

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

•

en:some patients may live to adulthood

•

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

•

en:some patients never achieve sitting

•

en:some patients show onset in childhood

•

en:spastic paraplegia 2 (spg2, 312920) is an allelic disorder

•

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

•

en:stage iv, late motor deterioration (when ambulation ceases)

•

en:stillborn or death shortly after birth

•

en:successful treatment with oral isotretinoin

•

en:survival to 5-15 years of age

•

en:survivors may develop renal insufficiency and hepatic dysfunction

•

en:two sibs, a boy and a girl, have been reported (as of july 2009)

•

en:symptoms precipitated by sudden movements

•

en:therapy is placement of implantable cardioverter defibrillator (icd)

•

en:thin, fine hair described in few individuals

•

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

•

en:three patients (2 related) reported (last curated march 2013)

•

en:three times more common in males

•

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

•

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

•

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

•

en:two mother and child pairs have been reported (last curated july 2015)

•

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

•

en:reference lab test method:type:time reported elsewhere:reference lab test:narrative

•

en:can be treated by bone marrow transplantation

•

en:service comment 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:carrier females may have mild features

•

en:average age of onset 15 years (range 4 to 40)

•

en:a subset of patients are responsive to vitamin b12 therapy

•

en:based on 1 4-generation chinese family

•

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

•

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

•

en:based on report of 3 unrelated patients (last curated january 2016)

•

en:based on report of a chinese father and son (last curated may 2015)

•

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

•

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

•

en:because of overlap with bardet-biedl syndrome (209900), patients should be followed by ophthalmology for development of cone-rod dystrophy until at least 10 years of age

•

en:blistering tends to improve with age

•

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

•

en:some patients develop diabetes mellitus as adolescents

•

en:changes more marked in hands than feet

•

en:autosomal recessive inheritance has been suggested

•

en:childhood onset has been reported

•

en:clinically classified into classic, atypical, and intermediate phenotypes

•

en:clinical overlap with dejerine-sottas syndrome (dss, 145900)

•

en:clinical presentation varies

•

en:congenital hypotonia from 8 to 12 months, then progressive spasticity resulting in contractures and spastic quadriplegia

•

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

•

en:contiguous gene deletion syndrome of 5q31

•

en:death at birth or within first 2 years of life (severe form)

•

en:death by age 5 (infantile form)

•

en:death due to respiratory failure or infection

•

en:death in childhood occurs without bone marrow transplantation

•

en:death in infancy or early childhood

•

en:death occurs 5 to 10 years after onset

•

en:death often before age 2

•

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

•

en:autosomal recessive cases tend to have a more severe phenotype

•

en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, 605253) and dejerine-sottas syndrome (dss, 145900)

•

en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:1 in 19,000 in japan

•

en:46,xx carriers are unaffected

•

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

•

en:about 25% of cases due to new mutations

•

en:adult onset (37 to 57 years)

•

en:adult onset may occur

•

en:affected individuals can pull hair from any part of the body, including eyelashes and eyebrows

•

en:affected infants appear normal

•

en:affects 1 to 3% of the population

•

en:age-dependent penetrance

•

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

•

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

•

en:age of onset varies (7 to 28 years of age)

•

en:allelic disorder to child syndrome (308050)

•

en:associated with iron deficiency anemia

•

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

•

en:allelic disorder to rett syndrome (312750)

•

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

•

en:allelic disorder to stickler syndrome 3 (184840)

•

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

•

en:allelic to kenny-caffey syndrome type 1 (244460)

•

en:allelic to leopard syndrome (151100)

•

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

•

en:allelic to waardenburg syndrome, type iia (193510)

•

en:all features are unilateral

•

en:all reported cases have resulted from de novo mutations

•

en:almost all patients require total parenteral nutrition

•

en:ambulation is usually maintained during adulthood

•

en:approximately half of the mutations are de novo

•

en:some patients do not manifest renal disease in the first decade of life

•

en:patients often require cardiac transplantation

•

en:some patients are asymptomatic and diagnosed incidentally

•

en:onset 5-30 years

•

en:occurs in full-term infants

•

en:occurs on right side in 75% of cases

•

en:one 3-generation korean family and one father daughter have been reported (last curated august 2013)

•

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

•

en:one consanguineous pakistani family reported (last curated august 2013)

•

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

•

en:one family with 2 affected brothers has been reported (last curated november 2012)

•

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

•

en:one italian family has been described (last curated august 2015)

•

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

•

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

•

en:one pakistani family reported (last curated november 2012)

•

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

•

en:onset after age 20 years

•

en:normal sclerae and teeth

•

en:onset and diagnosis may occur later (after age 20 years)

•

en:onset before 10 years of age in all patients

•

en:onset between 18 and 65 years

•

en:onset between 3 and 11 years of age

•

en:onset between 5 to 28 years of age

•

en:onset between second to sixth decades of life

•

en:onset by 3 years of age

•

en:onset in childhood (range 0.5 to 7 years)

•

en:onset in first decade (birth to 6 years)

•

en:onset in infancy or childhood

•

en:onset in males in first to third decade

•

en:onset in mid to late childhood

•

en:onset in second and third decades of life

•

en:onset in the first hours or days of life

•

en:no male-to-male transmission

•

en:normal alleles have 4 to 18 repeats

•

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

•

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

•

en:death secondary to respiratory insufficiency

•

en:many cases due to de novo mutation or chromosome aberration

•

en:mean age at onset 28 years

•

en:mean age at onset 5 years

•

en:mean age of onset 14-24 months

•

en:median age at diagnosis 7 years

•

en:median age of onset of leukoplakia - 7 years (range 1-26 years)

•

en:median life expectancy, 13.4 years

•

en:mesomelia becomes more evident with age

•

en:milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate)

•

en:mild expression in heterozygous carriers

•

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

•

en:mild to severe forms of disease

•

en:most common form of childhood idiopathic epilepsy

•

en:nonpenetrance has been observed

•

en:most frequently affected joints - hands (98%) and feet (88%)

•

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

•

en:most patients become wheelchair-bound

•

en:most patients become wheelchair-bound in adolescence

•

en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules

•

en:most remit by 2 months

•

en:mutations are frequently maternally inherited

•

en:mutation found in 1 puerto rican family (last curated august 2014)

•

en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015)

•

en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients

•

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

•

en:natural aversion to carbohydrates and favoring of protein

•

en:neonatal onset of nephrotic syndrome

•

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

•

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

•

en:onset often begins in childhood or adolescence

•

en:somatic mutations occur in adrenal tumor tissue (601639.0001)

•

en:prevalent in the old order amish in the u.s. and in finland

•

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

•

en:progressive cerebellar ataxia

•

en:quinidine therapy may be effective

•

en:reduced penetrance (approximately 87%)

•

en:relapsing-remitting course

•

en:renal failure in second or third decade

•

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

•

en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members

•

en:see also pgl1 (168000)

•

en:prevalence of 1 in 70,000

•

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

•

en:see cmt4a (214400) for autosomal recessive demyelinating forms

•

en:seizures may improve with age

•

en:seizures may remit with age (in some patients)

•

en:seizures usually remit in adolescence

•

en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death

•

en:severe hypertension develops in childhood

•

en:single mitochondrial dna deletions are found in sporadic kss patients

•

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

•

en:skeletal and facial features are variable

•

en:skin changes have onset in childhood

•

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

•

en:skin lesions manifest in the first year of life

•

en:slowly or non-progressive

•

en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006)

•

en:prevalence of 1 in 2,833 in zimbabwe

•

en:onset of deafness and diabetes in adulthood

•

en:patients may become totally dependent for all activities of daily living

•

en:onset of disease after fourth decade of life

•

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

•

en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life

•

en:onset of macrocephaly in the first year of life

•

en:onset of malignancy can occur throughout life

•

en:onset of other symptoms in adolescence or early adulthood

•

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

•

en:onset of tremor usually before onset of seizures

•

en:onset usually in the first 4 years of life

•

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

•

en:partial laminin alpha-2 deficiency results in milder phenotype

•

en:patients achieve ambulation

•

en:patients do not have clinical hypothyroidism

•

en:patients may have benign course until late adulthood

•

en:prevalence of 1 in 10,000 caucasians

•

en:patients of brazilian origin have a pure cerebellar atrophy

•

en:patients with later onset do not have dysmorphic features

•

en:patients with mutation in the nhlrc1 gene have slightly longer survival

•

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

•

en:patient with factor ix leyden variants (see, e.g., 300746.0001) have bleeding in childhood that improves or resolves after puberty

•

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

•

en:penetrance is usually complete by age 65 years

•

en:phenotype may be exacerbated by maltreatment in childhood

•

en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014)

•

en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150)

•

en:phenotypic similarities to costello syndrome (218040)

•

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

•

en:pigmentation not always butterfly-shaped

•

en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting

•

en:death often secondary to pneumonia or congestive heart failure

•

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

•

en:death usually by age 10 years

•

en:prenatal onset

•

en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420)

•

en:pathogenic cag repeat length is 51 to 78 triplets

•

en:patients are often of mediterranean origin

•

en:patients may require implantable cardioverter defibrillators

•

en:patients may show intermittent signs of improvement

•

en:patients with meb have less severe features and longer survival

•

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

•

en:patients with residual enzyme activity have childhood or adult onset

•

en:persistent bleeding after injury or surgery

•

en:phenotypic overlap with revesz syndrome (268130)

•

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

•

en:physical features are apparent at birth

•

en:precipitated by mechanical compression or pressure on nerve

•

en:prevalent among individuals of east asian descent

•

en:oral contraceptives may also cause symptoms

•

en:prevalent in sweden

•

en:primarily diagnosed in females

•

en:pyridoxine responsive individuals often have milder manifestations than those not responsive

•

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

•

en:renal involvement and coloboma may not be present

•

en:reported in individuals of jewish moroccan ancestry

•

en:reported in the ohio amish anabaptist community

•

en:results in severe motor disability and loss of independent ambulation

•

en:rickets and premature primary tooth loss occur in childhood

•

en:seasonal variation in severity of skin symptoms reported by some patients

•

en:see 609888 for a discussion on leprosy susceptibility

•

en:seizures are refractory to treatment

•

en:seizures are sensitive to hyperventilation

•

en:pancreatic endocrine abnormalities reported in 1 family only

•

en:onset within first 2 years

•

en:seizure onset between 3 and 11 years

•

en:onset in first days of life

•

en:onset age 32 to 45 years

•

en:onset at 5-24 months

•

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

•

en:onset between 2 to 20 years

•

en:onset between 3 and 6 months of age

•

en:onset between ages 1 to 3 years

•

en:onset between birth and 3 months of age

•

en:onset from birth

•

en:onset in adolescence to early adulthood

•

en:onset in childhood (3 to 10 years)

•

en:onset in childhood or adolescence (range 6 to 15 years)

•

en:onset in early first decade, although some patients have onset at birth or early in infancy

•

en:onset in early to late childhood

•

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

•

en:onset usually before age 10 years

•

en:onset in first months or years of life

•

en:onset in fourth decade

•

en:onset in neonatal period or infancy

•

en:onset in second decade of life progresses from mild to profound hearing loss

•

en:onset in second to fourth decade

•

en:onset in young adulthood or adulthood

•

en:onset of cataracts in late adolescence

•

en:onset of dystonia at 12 years

•

en:onset of hearing loss in late childhood or adolescence

•

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

•

en:onset of renal dysfunction in early childhood

•

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

•

en:onset of spasticity by age 2 years

•

en:onset precipitated by fasting or illness

•

en:seizures remit by age 5 years

•

en:seventy percent of cases are stillborn

•

en:only women have been reported

•

en:variable age at onset, but most often in the first 2 decades

•

en:transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides

•

en:two consanguineous pakistan families have been described

•

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

•

en:two families with different phenotypes have been reported (as of september 2010)

•

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

•

en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype

•

en:upper limb involvement occur later

•

en:usually fatal in first 2 decades

•

en:usually poor response to steroid treatment

•

en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800)

•

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

•

en:variable age at onset (range childhood to mid-sixties)

•

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

•

en:variable clinical presentation that may change with age

•

en:variable frequency and duration of episodes

•

en:variable onset, from infancy to young adulthood

•

en:variable presentation of clinical features

•

en:variable survival (some neonatal lethality)

•

en:visual impairment is present at birth and is progressive

•

en:waddling gait noted at age 15-20 months

•

en:wide variability in severity of limb defects

•

en:women are more often affected

•

en:worsening of hand weakness with cold (in some)

•

en:young adult onset

•

en:menkes kinky hair syndrome

•

en:tooth agenesis ranges from 1 missing tooth to marked oligodontia

•

en:severe form with onset at 3 to 4 months of age and severe developmental delay

•

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

•

en:severe infections in untreated patients with neutropenia

•

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

•

en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay

•

en:slow course of functional deterioration compared to severity of mri findings

•

en:smaller repeat lengths in younger generations (reverse anticipation)

•

en:some affected individuals have normal subsequent development

•

en:some carrier females may manifest mild symptoms

•

en:some more severely affected patients may die in infancy

•

en:some patients are clinically unaffected.

•

en:some patients become wheelchair-bound

•

en:some patients have a secreted but biologically inactive mutant leptin

•

en:some patients may become wheelchair-bound

•

en:some patients may develop concurrent failure to thrive and dyslipidemia

•

en:some patients may have isolated cardiac involvement

•

en:three patients reported, one with a wdpcp mutation (last curated january 2015)

•

en:some patients may have normal brain imaging

•

en:some patients report seasonal variation in symptoms

•

en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700)

•

en:some response to l-dopa therapy

•

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

•

en:spinal tumors are necessary for diagnosis

•

en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease

•

en:subtype of migraine with aura

•

en:sudden death due to cardiomyopathy

•

en:survival greater than one year rare

•

en:symptoms ameliorate with age

•

en:symptoms show insidious onset in the late first through third decades

•

en:therapy-induced dyskinesias

•

en:three forms of cjd: acquired (including variant), sporadic, and inherited

•

en:onset 6 months to 2.5 years

•

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

•

en:death usually occurs by 12 months of life

•

en:highly variable phenotype in females

•

en:frequency and severity of symptoms do not worsen with age

•

en:frontometaphyseal dysplasia (fmd, 305620) is an allelic disorder

•

en:genetic heterogeneity (see 116800 for summary)

•

en:genetic heterogeneity (see bscl2, 269700)

•

en:genetic heterogeneity (see npc1, 257220)

•

en:genetic heterogeneity of axonal cmt (see cmt2a 118210)

•

en:gonadal mosaicism reported

•

en:good seizure control with medication

•

en:hearing loss was progressive in some patients

•

en:hemolysis may be exercise-induced

•

en:heterozygotes have mild, transient hypothyroidism in infancy

•

en:heterozygous mutations reported, see 606609.0006 and 606609.0007

•

en:highly variable phenotype and severity, even within families

•

en:highly variable phenotype with regard to pigmentation

•

en:focal or segmental onset in cranial-cervical area or upper limbs

•

en:highly variable severity

•

en:high frequency in northeastern brazil

•

en:high frequency of absence seizures (several per day)

•

en:hip joint replacement often necessary

•

en:histologic features overlap with henoch-schonlein purpura (hspn)

•

en:hundreds to thousands of patches of pale normal skin appear during childhood and increase in number and size over time

•

en:improvement with age

•

en:incidence 1 in 15,000-28,000 births

•

en:incidence in the finnish population of 0.2-1.3 cases per million per year

•

en:incidence of 1 in 39,000

•

en:incidence of 1 in 480 among old order amish

•

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

•

en:incomplete age-dependent penetrance

•

en:incomplete penetrance (50%)

•

en:four families have been reported (last curated october 2012)

•

en:few familial (parent offspring) cases reported

•

en:increased frequency among japanese and chinese

•

en:enterocolitis tends to remit with age

•

en:death usually within first weeks of life

•

en:decreased life expectancy

•

en:deletions occur de novo

•

en:de novo mutation

•

en:de novo mutation in heterozygotes

•

en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features

•

en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis

•

en:disease course depends on age at onset

•

en:dopa-responsive rigidity

•

en:earlier onset is associated with more aggressive disease course

•

en:early death in the first few weeks of life

•

en:early death often due to respiratory complications

•

en:early death without bone marrow transplantation

•

en:episode, syncopal

•

en:fever, muscle cramping, and poor feeding remit by age 2 years

•

en:episodes last 2 days to 1 week

•

en:episodes occur 30 minutes to 3 hours after exposure to cold

•

en:episodic decompensation is usually triggered by illness

•

en:erythema accompanied by stinging or burning sensation in some cases

•

en:evidence of prenatal fractures

•

en:exacerbated by stress

•

en:exacerbation at puberty

•

en:eye involvement begins at birth, neurologic involvement begins later

•

en:families a and b had a more severe phenotype resulting in death in early childhood

•

en:fatal in first few months of life in most cases

•

en:favorable response to treatment with cholinesterase inhibitors or amifampridine

•

en:features usually appear during adulthood

•

en:female carriers may have cardiac defects

•

en:female carriers may show mild learning disabilities

•

en:incomplete penetrance (as low as 30% in some cases)

•

en:increased frequency in ashkenazi jewish population and in finland

•

en:one patient studied at molecular level (as of july 2011)

•

en:no abnormalities of hair, teeth, or bones

•

en:most common inherited giant platelet disorder

•

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

•

en:most patients need assistance walking or are wheelchair-bound

•

en:multiple gene loci involved in causation of schizophrenia

•

en:neonatal and late-infantile onset

•

en:neonatal onset

•

en:neurologic deterioration is severe after age 2 to 2.5 years

•

en:neurologic features occur in adulthood

•

en:neuropsychiatric manifestations are variable

•

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

•

en:normal alleles contain 6 to 28 repeats

•

en:normal alleles have 25 to 44 repeats

•

en:not responsive to biotin treatment

•

en:no opportunistic infections

•

en:most cases result from de novo mutations

•

en:occurs in full-term newborns

•

en:oculomotor apraxia is not always present

•

en:often presents with cranial or cervical involvement

•

en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014)

•

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

•

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

•

en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012)

•

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

•

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

•

en:one family has been reported (as of 4/2010)

•

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

•

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

•

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

•

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

•

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

•

en:more frequent in females

•

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

•

en:majority cases are sporadic

•

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

•

en:increased tendency to chromosomal nondisjunction

•

en:infant death may occur secondary to sepsis

•

en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities

•

en:juvenile myoclonic epilepsy (jme, 606904)

•

en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400)

•

en:l-dopa-induced dyskinesias

•

en:late adult onset (after age 55 years)

•

en:length of attack, 3 to 7 days

•

en:lesions grow and spread with age

•

en:less than 20% have onset at 18 years of age or less (dominant and recessive)

•

en:loss initially affects mid and high frequencies

•

en:lymphedema occurs in childhood

•

en:majority of cases are secondary to de novo mutation

•

en:mode of inheritance is unclear

•

en:majority of eec cases appear to be secondary to tp63 (603273) mutations

•

en:majority of patients are pyridoxine-responsive

•

en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia

•

en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233)

•

en:may be present in asymptomatic adults

•

en:may fade with age

•

en:may regress

•

en:may respond to cholinesterase inhibitors

•

en:mean age at onset for variant cjd is 29 years (before age 45 years)

•

en:mean age of onset 35-40 years

•

en:mean age of onset 50 to 52 years

•

en:median survival 5.7 years

•

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

•

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

•

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

◀

Génériques

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en:early

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6945848 • caches: c1=28 c2=1671 c3=614

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