Le Diko - en:sudden death within first days of life

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Le Diko - en:sudden death within first days of life

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le dictionnaire d'associations lexicales
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en:sudden death within first days of life

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:two unrelated girls reported (last curated october 2013)

•

en:lymphedema that presents at puberty is called meige disease (153200)

•

en:age at first pregnancy:time:point in time:^patient:quantitative

•

en:usual onset under age 30 years

•

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

•

en:prevalence of 1 in 300,000 in quebec

•

en:premature aging syndrome

•

en:mutation carriers may show toxicity to 5-fluorouracil (5fu)

•

en:mutant alleles have 47 to 63 repeats

•

en:most patients show early childhood onset after a period of normal development

•

en:most common form of inherited, congenital hydrocephalus

•

en:may fade with age

•

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

•

en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:individuals may accumulate more pigment in hair and eyes with age

•

en:genetic heterogeneity (see 209850)

•

en:frequently occurs in navajo children, especially in western reservations

•

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

•

en:based on report of 2 consanguineous arab families (last curated november 2014)

•

en:autosomal dominant inheritance has been rarely reported (187800)

•

en:attacks more common in women

•

en:allelic disorder to usher syndrome type 1f (602083)

•

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

•

en:two sibs died before 2 years of age

•

en:reference lab test identifier:id:xxx:reference lab test:nom

•

en:hip replacement in early adulthood

•

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

•

en:onset 2-4 years of age in iia

•

en:breech presentation

•

en:subtle facial phenotype compared to other types of hpe

•

en:slight male predominance (3:2)

•

en:skin changes have onset in childhood

•

en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300)

•

en:see also benign familial infantile convulsions (bfic1, 601764)

•

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

•

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

•

en:onset of contractures in utero

•

en:onset between 10 and 20 years of age

•

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

•

en:one third of patients represent new mutations

•

en:good response to fibrinolytic inhibitors

•

en:contractures other than plantar are less common and less severe

•

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

•

en:death in early infancy (in some patients)

•

en:distinct disorder from galactosemia (230400)

•

en:heterozygous females more mildly affected than hemizygous males

•

en:inheritance pattern is unclear

•

en:males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces

•

en:may coexist with autoimmune vitiligo or thyroiditis

•

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

•

en:seizures are followed by drowsiness in most cases

•

en:onset of dementia in the thirties or forties

•

en:onset of hearing loss in childhood

•

en:onset of seizures at 2-8 days of life

•

en:onset of bleeding symptoms in childhood or young adulthood

•

en:onset within first 2 years

•

en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract

•

en:seizures become nearly continuous

•

en:some patients have later onset and more variable phenotype (mngie)

•

en:spontaneously resolves by 5 to 6 months of age

•

en:there are several subtypes

•

en:upper limb involvement may occur later

•

en:onset in childhood or adolescence

•

en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder

•

en:onset in infancy was reported in 1 family

•

en:anemia, diabetes, and deafness often show onset at different ages

•

en:muscle weakness increases with age

•

en:infants occasionally mistaken as having down syndrome

•

en:increased risk of developing multiple primary cancers

•

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

•

en:incidence ranges from 1 in 238,095 to 1 in 300,000 births

•

en:genetic heterogeneity (see mada, 248370)

•

en:genetic heterogeneity (see gefs+, 604233)

•

en:disease is life-threatening if untreated

•

en:diagnosis in early childhood

•

en:based on report of 1 consanguineous turkish family (last curated june 2014)

•

en:associated with fragile x syndrome (300624)

•

en:allelic to ellis-van creveld syndrome (225500)

•

en:adult onset (third decade)

•

en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative

•

en:1 in 50,000 in korea

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en:service comment 34:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:seizure frequency decreases during early childhood

•

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

•

en:no skeletal abnormalities in odontohypophosphatasia

•

en:allelic to early-onset familial alzheimer disease (ad1, 104300)

•

en:upper limb involvement occur later

•

en:ultrasound detection in second trimester of pregnancy

•

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

•

en:two unrelated families have been reported (last curated november 2012)

•

en:some patients have additional neurologic involvement

•

en:rapidly progressive episodes

•

en:prenatal onset

•

en:onset within first 6 months of life

•

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

•

en:onset in late twenties

•

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

•

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

•

en:occurs in 1 in 50,000 newborn males

•

en:therapy-induced dyskinesias

•

en:most have onset in first or second decade

•

en:variable age at onset (range 15 to 60 years)

•

en:allelic to nephronophthisis 4 (606966)

•

en:most cases occur de novo

•

en:candidiasis is restricted to nails of hands and feet

•

en:delayed separation of umbilical cord

•

en:female carriers may have hearing loss

•

en:fifty-percent of individuals responsive to pyridoxine (vitamin b6)

•

en:early onset, between 35-60 years

•

en:four patients from 3 families have been reported (last curated february 2015)

•

en:mechanical ventilation may be required

•

en:genetic heterogeneity (see 157640)

•

en:gradual progression

•

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

•

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

•

en:may be exacerbated by febrile illness

•

en:manifestations of cushing syndrome may be mild

•

en:many patients require cardiac pacemakers

•

en:median age of onset of nail dystrophy - 7 years (range 1-6 years)

•

en:onset in infancy (3 to 7 months)

•

en:onset of hearing loss in first or second decade

•

en:onset in second or third decades

•

en:pedigrees compatible with autosomal dominant inheritance have been reported

•

en:majority die in neonatal period secondary to respiratory insufficiency

•

en:physical features are apparent at birth

•

en:major cause of death is heart failure

•

en:death in childhood may occur

•

en:live born infants die within few hours of birth

•

en:intermediate: onset in first decade with slow progression or onset in second decade with rapid progression

•

en:highly variable phenotype and severity, even within families

•

en:favorable response to anticholinesterase medication

•

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

•

en:diarrhea persists even with vigorous nursing

•

en:death usually occurs in infancy or childhood if untreated

•

en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations

•

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

•

en:absence seizures show onset between 3.5 and 4 years

•

en:see also autosomal dominant peoa1 (157640)

•

en:rarely produces clinical jaundice

•

en:all cases have been sporadic

•

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

•

en:increased frequency in the dariusleut hutterites (canada)

•

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

•

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

•

en:skin manifestation less frequently observed in cold climates

•

en:see also distal hmn2a (158590)

•

en:phenotypic variability within families and among patients carrying the same mutation

•

en:one family with 6 probands described (as of september 2000)

•

en:most cases are isolated

•

en:mildly progressive

•

en:lower limb involvement precedes upper limb involvement

•

en:some patients require cardiac transplantation

•

en:increased frequency in finland (prevalence of 1 in 20,000)

•

en:allelic to pendred syndrome, deafness with goiter (274600)

•

en:genetic heterogeneity (see coxpd1, 609060)

•

en:allelic to marshall syndrome (154780)

•

en:allelic to osteoporosis-pseudoglioma syndrome (259770), van buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750)

•

en:waxing and waning cardiomyopathy (in some patients)

•

en:arteriovenous malformations can occur throughout the body

•

en:death in the fifth or sixth decade

•

en:earlier onset is associated with more rapid progression

•

en:elevated afp can be seen in other disorders

•

en:episodes tend to decrease with age

•

en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa

•

en:significant clinical overlap with sotos syndrome (117550)

•

en:reported in the ohio amish anabaptist community

•

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

•

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

•

en:onset usually in third decade of life

•

en:onset around puberty

•

en:one israeli arab family has been reported with ptprf mutation (last curated september 2014)

•

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

•

en:clinical heterogeneity of multiminicore disease (see 255320 and 607552)

•

en:mean age of onset 50 to 52 years

•

en:levodopa-induced dyskinesias

•

en:late onset combined immunodeficiency with allelic variant 102700.0020

•

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

•

en:clinical variation

•

en:based on four patients in a four generation family

•

en:aggravated by physical activity

•

en:age-related clinical course

•

en:two fetuses have been reported (as of august 2011)

•

en:survival past infancy is rare

•

en:onset in infancy or first years of life

•

en:two unrelated boys reported with relatively mild phenotype (last curated may 2012)

•

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

•

en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:two brothers have been reported (as of february 2012)

•

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

•

en:see the more common methemoglobinemia types i and ii (250800)

•

en:phenotypic similarities to leigh syndrome (256000)

•

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

•

en:onset of disease after fourth decade of life

•

en:onset in young adulthood or adulthood

•

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

•

en:nphp shows autosomal recessive inheritance

•

en:highly variable frequency and severity of attacks

•

en:exacerbation at puberty

•

en:early age of onset (mean age at diagnosis, 36 years) most patients have intraocular pressures within the normal range (21 mmhg or less)

•

en:death in infancy in 2 patients

•

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

•

en:adult onset (45 to 76 years)

•

en:blood glucose monitor with integrated voice synthesizer

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en:jbts shows autosomal dominant inheritance

•

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

•

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

•

en:inheritance may be x-linked dominant

•

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

•

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

•

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

•

en:one family with 2 patients has been reported

•

en:one of the 2 most common forms of albinism in the world, along with oca2

•

en:onset in infancy and third decade had been reported

•

en:onset of parkinsonism in first decade

•

en:progresses through puberty, then stabilizes

•

en:favorable initial response to l-dopa

•

en:genetic heterogeneity (see bafme2, 607876)

•

en:affects between 1 in 200 to 1 in 400 individuals of northern european descent

•

en:estimated incidence of 1 in 17,000

•

en:epiphyseal stippling is gone by 8 months of age

•

en:early exhaustion on exertion

•

en:diurnal fluctuation of symptoms

•

en:death in the mid-twenties

•

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

•

en:carrier males are unaffected except for psychiatric/behavioral abnormalities

•

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

•

en:allelic disorder to hypokalemic periodic paralysis (hokpp, 170400)

•

en:slow progression without marked disability

•

en:87% patients are female

•

en:service comment 43:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:first name:pn:pt:^guardian or legally authorized representative:nom

•

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

•

en:see also griscelli syndrome, type 1 (214450) for a similar disorder with characteristic neurologic disease and griscelli syndrome, type 2 (607624) for a similar disorder with characteristic immunodeficiency/hemophagocytic syndrome.

•

en:some carrier females have mild features

•

en:gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy

•

en:wheelchair use by 10-30 years

•

en:two families have been reported (as of march 2012)

•

en:some patients develop ophthalmoplegia in middle age

•

en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410)

•

en:onset of symptoms in first or second decade of life

•

en:onset of arthritis in early childhood

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en:onset in late-childhood to early adulthood (12 to 20 years)

•

en:onset between 5 and 20 years

•

en:onset after age 40 years

•

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

•

en:incidence - 1/16,000 live births

•

en:high mortality in infancy and early childhood (in some patients)

•

en:generally static disease course

•

en:see also autosomal recessive bh4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype

•

en:first described in acadian population of louisiana

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en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build

•

en:survival to 5-15 years of age

•

en:two types - lethal neonatal and less severe, late onset

•

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

•

en:some patients show onset later in childhood

•

en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:allelic disorder to stickler syndrome 3 (184840)

•

en:ambulation is usually maintained during adulthood

•

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

•

en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660)

•

en:cone-shaped epiphyses usually not present before age 2 years

•

en:multiple gene loci involved in causation of schizophrenia

•

en:high occurrence of de novo mutations

•

en:immunodeficiency is progressive

•

en:many patients lose independent mobility after 25 years

•

en:occurs in 2-5 per 10,000 individuals

•

en:neurologic features occur later in childhood

•

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

•

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

•

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

•

en:highest incidence in men of european descent

•

en:high incidence among old order amish

•

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

•

en:good response to l-dopa initially

•

en:favorable response to oral bile acid therapy

•

en:favorable response to intermittent, low-dose steroid therapy

•

en:disorders with overlapping phenotypes can be caused by mutation in the keratin-14 gene (148066)

•

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

•

en:based on one patient (last curated february 2015)

•

en:ambulation usually not achieved

•

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

•

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

•

en:onset of autoinflammation in infancy or first few years of life

•

en:95% of cases are sporadic

•

en:citation:bib:pt:reference lab test:nar

•

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

•

en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040)

•

en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200)

•

en:deafness tends to occur before other neurologic signs, except in patients with very early onset

•

en:precipitated by febrile illness and fasting

•

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

•

en:seizures usually occur in the first months of life

•

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

•

en:rapid progression to disability

•

en:phenotypic overlap with fhm1 (141500) and sca6 (183086)

•

en:occurs more frequently in females

•

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

•

en:lethal in 40% of patients

•

en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence

•

en:germline and somatic mutations contribute to this disorder

•

en:onset of neurologic disease in early adulthood

•

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

•

en:variable expressivity of each feature

•

en:prevalence of 1 in 100,000

•

en:autosomal recessive disorder tends to be more severe

•

en:resembles pseudo-torch syndrome (251290)

•

en:severe phenotype

•

en:tremor is aggravated by emotional stress

•

en:xy karyotype

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en:metabolic rate^resting:engrto:pt:^patient:qn

•

en:performing laboratory name:identifier:point in time:facility:nominal

•

en:allelic disorder to autosomal dominant spg13 (605280)

•

en:all reported mutations have occurred de novo

•

en:onset in neonatal period or infancy

•

en:see also adult-onset stiff person syndrome (184850)

•

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

•

en:perinatal mortality

•

en:ptosis is usually presenting feature

•

en:rapid disease progression

•

en:tremor may be elicited by movement or postural maintenance

•

en:see also x-linked (310400) and autosomal dominant (160150) forms

•

en:seizures precipitated by fatigue or alcohol

•

en:slow or nonprogressive

•

en:three families have been reported (last curated april 2011)

•

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

•

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

•

en:onset 30-40 years of age

•

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

•

en:no family history of

•

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

•

en:median age of diagnosis is 28 years

•

en:many cases due to de novo mutation

•

en:in severe attacks, hemiplegia or coma may last days to weeks

•

en:hair, nails, and teeth are normal

•

en:favorable response to treatment with riboflavin

•

en:favorable response to acetylcholinesterase inhibitors

•

en:extracutaneous manifestations are variable

•

en:coloboma is associated with larger microdeletion (490kb) of 11q13

•

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

•

en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900)

•

en:absence of both inner and outer dynein arms of cilia

•

en:service comment 67:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:two unrelated patients have been reported (as of august 2010)

•

en:onset of spastic paraplegia in first year of life

•

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

•

en:onset between 13 to 37 years

•

en:variable penetrance

•

en:variable age of onset (childhood to adulthood)

•

en:usually fatal within the first few weeks of life

•

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

•

en:symptoms usually last 30-60 minutes

•

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

•

en:some more severely affected patients may die in infancy

•

en:see also pfm3 on chromosome 4q21-q23 (609566)

•

en:reticulate hyperpigmentation onset birth - 2 years

•

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

•

en:perinatal lethality

•

en:partially responsive to laser treatment

•

en:onset early in first decade

•

en:precipitated by fatigue or alcohol

•

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

•

en:dopa-responsive rigidity

•

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

•

en:normal cag repeat length is 7 to 32 triplets

•

en:based on 1 5-generation family (last curated january 2015)

•

en:caused by somatic mutations

•

en:described in one 5-generation pakistani family (last curated april 2013)

•

en:de novo mutation identified in some patients

•

en:disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline

•

en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat

•

en:last name:pn:pt:^guardian or legally authorized representative:nom

•

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

•

en:female carriers are unaffected or show neuropsychiatric features

•

en:impaired healing

•

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

•

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

•

en:onset of malignancy can occur throughout life

•

en:onset of hand involvement at 14 to 60 years

•

en:onset of fracture usually when child begins to walk

•

en:onset of end-stage renal disease 15 to 20 years after onset

•

en:onset in late adulthood (44 to 73 years)

•

en:onset of disease between 25 and 40 years of age

•

en:onset of alopecia in infancy

•

en:onset may be precipitated by viral infection, reye-like episode following ingestion of aspirin

•

en:onset in the sixth or seventh decades

•

en:onset in the first hours or days of life

•

en:onset in late twenties to thirties

•

en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years)

•

en:onset in fourth decade

•

en:onset of osteoarthritis in teens to early adulthood

•

en:poor outcome

•

en:onset of symptoms 2-6 years of age

•

en:onset of symptoms in early childhood

•

en:onset usually in adolescence

•

en:paris-trousseau thrombocytopenia can occur in jacobsen syndrome (147791) in which similar platelet defects are accompanied by facial dysmorphism, cardiac defects, mental retardation, and deletion at 11q23

•

en:pathogenic alleles contain 71 to 1,300 repeats

•

en:patients can have als, ftd, or both

•

en:patients do not exhibit ophthalmoplegia

•

en:patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations

•

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

•

en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2

•

en:periventricular heterotopia (300049) is an allelic disorder

•

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:onset in early childhood or adolescence

•

en:poor response to the c5 inhibitor eculizumab

•

en:onset in first months of life

•

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

•

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

•

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

•

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

•

en:most patients become wheelchair-bound

•

en:most patients remain ambulatory

•

en:mother who carries the mutation is clinically unaffected

•

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

•

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

•

en:nail changes may be intermittent in some patients

•

en:neonatal sepsis

•

en:neurologic symptoms may occur after trauma

•

•

en:nonsyndromic disorder

•

en:normal neonatal blood phenylalanine has been reported in rare patients

•

en:no cardiac or immune defects in patients from the 2 reported families

•

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

•

en:one family has been reported (as of curation date may, 2013) onset in infancy

•

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

•

en:prevalence of 0.6 to 10 per 100,000 individuals

•

en:one family with autosomal dominant inheritance has been reported and 1 family with autosomal recessive inheritance has been reported (last curated october 2014)

•

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

•

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

•

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

•

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

•

en:only women have been reported

•

en:onset 3 months of age up to 5 years

•

en:onset 50 to 65 years

•

en:onset 70-90 years

•

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

•

en:onset around adolescence in males

•

en:onset at or soon after birth

•

en:onset before age 20 years

•

en:prevalence estimated at 1 in 50,000

•

en:short limbs become more apparent during childhood

•

en:protein c deficiency is found in 3-4% of patients with venous thromboembolism

•

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

•

en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features

•

en:three patients have been reported (as of august 2011)

•

en:three unrelated patients have been reported (last curated july 2013)

•

en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1

•

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

•

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

•

en:two unrelated patients have been reported, 1 with normal neurologic development and the other with profound neurologic abnormalities (last curated august 2014)

•

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

•

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

•

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

•

en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles

•

en:unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats

•

en:uncommon and rare features seen in the most severely affected patients

•

en:upper limb involvement usually occurs later

•

en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs

•

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

•

en:variable heat tolerance

•

en:miscellaneous

•

en:wheelchair use at 20-30 years

•

en:variable phenotype depending on residual enzyme activity

•

en:variable penetrance of these features

•

en:variable manifestations

•

en:variable infectious phenotype

•

en:variable disease severity

•

en:usually death in utero or rarely in neonatal period

•

en:variable age of onset (childhood to adult)

•

en:variable age at onset (earliest reported 7 years)

•

en:variable age at onset (childhood to adulthood)

•

en:variable age at onset, first to second decades

•

en:variability in extent of dislocation of lens and/or displacement of pupil, both within families and between eyes in a single individual

•

en:usually fatal by age 5 years

•

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

•

en:symptoms often improve gradually with age

•

en:recessive inheritance has been reported

•

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

•

en:similar clinical features to edsi (130000) but less severe

•

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

•

en:seventy percent of cases have associated anomalies

•

en:seizures are refractory to treatment

•

en:seizures are refractory

•

en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype

•

en:see also pseudohypoparathyroidism type ia (103580)

•

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

•

en:see also pgl1 (168000)

•

en:see also cmtx1 (302800) and cmtx2 (302801)

•

en:see also autosomal dominant form (128230)

•

en:risk of thromboembolic stroke

•

en:renal involvement and coloboma may not be present

•

en:recurrent febrile crises preceded by chills and accompanied by headache and bilateral cervical lymphadenopathy

•

en:single lesions in sporadic cases

•

en:skeletal and facial features are variable

•

en:symptoms noted at 2-3 years

•

en:spinal involvement improves with age

•

en:symptoms highly variable - rapidly progressive course leading to hepatic failure versus acute hepatic crisis

•

en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger

•

en:survival to 20s-60s in iib

•

en:surgical intervention is not always curative

•

en:subtype of migraine with aura

•

en:spontaneous tumor regression may occur

•

en:some patients may have a more protracted disorder with neurodegeneration

•

en:skin abnormalities can be present at birth or appear later in infancy or childhood

•

en:some patients have only ocular involvement or only oral involvement

•

en:some patients have no or mild manifestations and normal development

•

en:some patients carry heterozygous mutations

•

en:some heterozygous cpt2 mutation carriers may be symptomatic

•

en:sleepwalking usually remits in adolescence

•

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

•

en:most common muscle disease of older persons

•

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

•

en:most affected patients die in childhood

•

en:based on 2 siblings in 1 family (last curated september 2012)

•

en:associated with malignant hyperthermia (mhs, 145600)

•

en:as of 4/2011, 2 patients have been described in detail

•

en:ataxia is nonprogressive

•

en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise

•

en:attacks typically last for minutes

•

en:autonomic symptoms occur with headaches

•

en:autosomal dominant inheritance has been reported in a single family

•

en:autosomal recessive cytochrome b-positive cgd, type ii

•

en:autosomal recessive inheritance has been reported in 1 family (as of april 2011)

•

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

•

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

•

en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010)

•

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

•

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

•

en:based on report of 1 japanese family (last curated november 2013)

•

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

•

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

•

en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation)

•

en:carrier females show no clinical phenotype

•

en:carrier rate of 1 in 11 among old order amish

•

en:cataracts are progressive but may vary between eyes of an individual

•

en:central apneic episodes may be fatal

•

en:chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia

•

en:childhood onset

•

en:codominant inheritance has been suggested

•

en:contiguous gene deletion syndrome (in most patients)

•

en:contiguous gene syndrome

•

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

•

en:death by age 2 years

•

en:death frequent in severe infantile form

•

en:associated with advanced paternal age

•

en:allelic to mucolipidosis ii (252500)

•

en:death in utero or in the perinatal period

•

en:acral hemorrhagic variant

•

en:reason for lab test:type:pt:bld.dot:nom

•

en:fasting status:acnc:pt:^patient:ord:reported

•

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

•

en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 65:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:15 patients from 5 kindreds reported (as of february 2012)

•

en:21% of hereditary wilms tumor are bilateral

•

en:25% due to mutations in ube3a (601623)

•

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

•

en:80% cases new mutations

•

en:about 15% of female carriers develop renal insufficiency in the second or third decade

•

en:about half of individuals are asymptomatic and identified by newborn screening programs

•

en:acute neurologic deterioration after viral illness has been reported

•

en:allelic to craniometaphyseal dysplasia (123000)

•

en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233)

•

en:allelic to cartilage-hair hypoplasia (250250)

•

en:allelic to brachydactyly, type a1 (112500)

•

en:allelic disorder to osmed (215150) allelic disorder to weissenbacher-zweymuller syndrome (277610)

•

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

•

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

•

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

•

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

•

en:adults may lose ability to walk

•

en:allelic disorder to autosomal recessive form (224900)

•

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

•

en:age of onset within the first years of life

•

en:age of onset 23-59 years

•

en:age of onset 2-8 months

•

en:adult onset (after age 35 years)

•

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

•

en:death usually due to respiratory failure

•

en:most affected infants die shortly after birth from respiratory failure

•

en:intrafamilial variability

•

en:heterozygous carriers have an increased risk of metabolic dysfunction

•

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

•

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

•

en:homozygous 9-snp haplotype in the promoter and coding region of malic enzyme 2 (me2, 154270.0001) increases risk for ige (odds ratio 6.1 with 95% confidence interval 2.9-12.7)

•

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

•

en:incidence 1 in 300,000 in japan

•

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

•

en:incidence of 1/50,000 births

•

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

•

en:incomplete penetrance, some individuals have only emg changes without other clinical signs

•

en:increased morbidity/mortality in affected males

•

en:infant death may occur secondary to sepsis

•

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

•

en:intellectual disability is variable

•

en:late-adult onset (range 50 to 80 years)

•

en:good seizure control with medication

•

en:mean age of onset 22 years (range 5-54)

•

en:more frequent in females

•

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

•

en:mild cases show clinical, biochemical, and mri improvement after the second year of life

•

en:milder disease with a more favorable prognosis than cmd1u (613694) due to psen1 mutations

•

en:median survival 5.7 years

•

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

•

en:may be fatal in infancy

•

en:later onset has been rarely reported (up to age 68 years)

•

en:maternal imprinting

•

en:many studies have reported that the phenotype of tuberous sclerosis-2 (tsc2) is more severe than that of tuberous sclerosis-1 (e.g., lower iq, more seizures, more macules, cust-like cortical tubers)

•

en:males carry mutations in the somatic mosaic state

•

en:male-to-female ratio, 1.8 to 1

•

en:lifetime risk of breast cancer in mutation carriers is 60 to 85%

•

en:leg pain during childhood

•

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

•

en:good response to gaba-enhancing medications

•

en:death usually in sixth decade

•

en:fatal if renal transplant is not performed

•

en:death usually within first year of life

•

en:deletions in naip gene (600355) found in 18% of smaii patients

•

en:described in families from western japan

•

en:de novo deletions in 8% of patients (preferentially paternally derived)

•

en:distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, 162500)

•

en:distribution of lesions may be generalized, palmoplantar, or acral

•

en:early death in early adulthood often associated with diverticulitis and intestinal perforation

•

en:elevated body temperatures to 42 degrees celsius

•

en:environmental triggers - cold and wet exposure

•

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

•

en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k.

•

en:exacerbations during infection

•

en:familial (10%) and isolated cases

•

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

•

en:favorable response to flunarizine

•

en:genetic heterogeneity (see mcc2 deficiency 210210)

•

en:genetic anticipation has been observed

•

en:genetic heterogeneity (see bscl1, 608594)

•

en:genetic heterogeneity (see 605407)

•

en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003)

•

en:genetic heterogeneity, see ppnad1 (610489)

•

en:genetic heterogeneity, see mgr1 (157300)

•

en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930)

•

en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1

•

en:female carriers may have mild hearing impairment

•

en:frequent neonatal sudden death

•

en:fractures occur in first few months, then decrease in frequency and then occur with ambulation

•

en:four patients have been reported

•

en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210)

•

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

•

en:female carriers may have mild mental retardation

•

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

•

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

•

en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:pavm more frequent in hht1 than hht2

•

en:onset of visual loss in the first decade

•

en:onset usually associated with febrile illness

•

en:onset usually in childhood (range 6 months to 16 years)

•

en:onset usually in first month of life

•

en:onset usually in infancy although later onset may occur

•

en:onset usually in second decade of life, although earlier and later onset have been reported

•

en:onset usually in the third decade (range 11 to 50 years)

•

en:onset within the first decade of life

•

en:other variants of waardenburg syndrome include waardenburg syndrome type 1 (193500), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580)

•

en:overlap with obsessive-compulsive disorder (ocd, 164230)

•

en:patients are often asymptomatic

•

en:patients are prone to impaired thermoregulation

•

en:patients do not have clinical hypothyroidism

•

en:patients with meb may acquire ability to walk and a few words

•

en:possible gonadal mosaicism in one report

•

en:onset of symptoms 2-4 weeks of age

•

en:possibly x-linked recessive inheritance

•

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

•

en:prevalence in the finnish population of 5.8 per million

•

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

•

en:prevalence of 1 in 28,000 african-americans

•

en:prevalence of essential tremor ranges from 0.4 to 6% in the general population

•

en:prevalent among patients of asian descent, particularly japanese

•

en:prevalent in quebec

•

en:provoked by crying or emotional upset

•

en:radioresistant dna synthesis

•

en:rapidly progressive deterioration (in some patients)

•

en:rarely reported in infants

•

en:rare survival to teens

•

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

•

en:onset of symptoms usually between 12-15 years

•

en:onset of neuromuscular symptoms between 6 months and 1 year of age

•

en:secondary hemorrhage

•

en:onset 23 to 30 years

•

en:no congenital form

•

en:no opportunistic infections

•

en:nystagmus may disappear by mid-childhood

•

en:occurs in women and is triggered by pregnancy or estrogen therapy

•

en:occurs most often between 5 and 15 years of age

•

en:often fatal due in infancy due to intractable diarrhea

•

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

•

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

•

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

•

en:one large family has been reported (as of 2008)

•

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

•

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

•

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

•

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

•

en:onset age 32 to 45 years

•

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

•

en:onset in first decade (average 5 years)

•

en:onset of hemolytic anemia shortly after birth

•

en:onset of encephalopathy between ages 2 and 3 years

•

en:onset of disease within the first year of life

•

en:onset of diabetes in neonatal period/ early infancy

•

en:onset of cardiac symptoms in adolescence

•

en:onset in neonatal period or early infancy

•

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

•

en:onset between 6 and 12 months of age

•

en:onset in early childhood after initial normal development

•

en:onset in childhood or youth

•

en:onset in childhood or early adulthood

•

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

•

en:onset in childhood (later than in antenatal bartter syndrome 241200)

•

en:onset between second to sixth decades of life

•

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

•

en:see also autosomal recessive form (255700), which is more common and more severe

•

en:normal alleles contain up to 44 repeats

•

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

•

en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection)

•

en:three patients have been reported (as of february 2012)

•

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

•

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

•

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

•

en:treatment with betaine, especially for pyridoxine nonresponders

•

en:tremor is aggravated by low glucose or light

•

en:two families have been reported (september 2010)

•

en:two of 3 patients became wheelchair-bound

•

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

•

en:two patients reported (last curated may 2013)

•

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

•

en:two subtypes noninflammatory type a and inflammatory type b

•

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

•

en:two unrelated patients with slightly different phenotypes have been reported (last curated august 2013)

•

en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea

•

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

•

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

•

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

•

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

•

en:variable facial dysmorphic features

•

en:variable expressivity in families

•

en:variable distribution, may be focal, segmental, multifocal, or generalized

•

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

•

en:type 2n shows autosomal recessive inheritance

•

en:variable age at onset (range 4 to 40 years, mostly in first or second decade)

•

en:usually sporadic

•

en:usually fatal

•

en:unusual cabbage-like odor

•

en:type ii is progressive and leads to shortened lifespan

•

en:type iii is intermediate form

•

en:three affected sibs have been reported

•

en:symptoms worsen with fatigue and exercise

•

en:see also cbld (277410)

•

en:some females are affected

•

en:see also erythrocytosis 1 (ecyt1, 133100)

•

en:see also optic atrophy 1 (165500), an allelic disorder without deafness

•

en:see also peeling skin syndrome, acral type (609796)

•

en:seizures may be precipitated by sleep deprivation, alcohol consumption, or flashing lights

•

en:seizures tend to occur upon awakening

•

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

•

en:significant number of patients are stillborn or die in neonatal period

•

en:signs and symptoms depend on tumor location and activity

•

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

•

en:skewed x-inactivation in carriers

•

en:skin lesion appear shortly after birth and tend to disappear in young adulthood

•

en:slowly or non-progressive

•

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

•

en:some affected individuals have normal subsequent development

•

en:some heterozygous carriers may have mild manifestations

•

en:symptoms tend to improve with age

•

en:subset of patients have cytochrome c oxidase deficiency (see 220110)

•

en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours

•

en:symptoms may be exacerbated by pregnancy or trauma

•

en:sudden death secondary to impaction of medulla oblongata

•

en:sudden cardiac death in some families

•

en:successful treatment with oral isotretinoin

•

en:subtype 3c (231005) comprises cardiovascular calcifications

•

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

•

en:some patients can attend special school

•

en:some pedigrees are consistent with autosomal dominant inheritance

•

en:some patients respond to acetazolamide

•

en:some patients report increased tolerance to heat

•

en:some patients may lose independent ambulation

•

en:some patients may have isolated cardiac involvement

•

en:some patients experience later reversal of hypogonadotropic hypogonadism

•

en:normal sweat electrolytes

•

en:onset of major clinical features in young adulthood

•

en:normal ability to tolerate heat

•

en:considered a myeloproliferative disorder

•

en:based on report of one polish roma patient (last curated november 2014)

•

en:both homozygous and heterozygous ednrb mutations have been found

•

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

•

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

•

en:carrier frequency 1:700 in bukhara jewish populations

•

en:cataracts variably present at birth

•

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

•

en:central hypoventilation occurs late in the disease and is often fatal

•

en:classical form (type i), less severe with survival into adulthood

•

en:clinically mimics congenital torch infections (see 251290)

•

en:clinical and biochemical abnormalities improve with age

•

en:clinical and pathologic features of both demyelinating and axonal cmt

•

en:clinical onset within first 2 years of life

•

en:complete absence of melanin synthesis

•

en:contiguous gene deletion syndrome at chromosome 6p

•

en:based on report of 2 families (last curated january 2014)

•

en:decreased penetrance

•

en:dysmorphic features are variable

•

en:distinct disorder from marinesco-sjogren syndrome (mss, 248800)

•

en:discordant phenotype among monozygotic twins has been reported

•

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

•

en:diabetes and anemia respond to high doses of thiamine supplementation

•

en:described predominantly in families from the philippines

•

en:death within first year of life

•

en:corneal steepening is proportional to the degree of axial foreshortening

•

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

•

en:death usually associated with cardiogenic shock preceded by arrhythmia

•

en:death may occur in childhood due to respiratory failure

•

en:death in childhood is frequent due to respiratory failure

•

en:death due to rapidly progressive pulmonary fibrosis in infancy

•

en:death at 20 to 40 years

•

en:neuromuscular, cardiovascular, and infectious symptoms improve with age

•

en:based on 2 unrelated chinese families (last curated july 2014).

•

en:familial occurrence is rare

•

en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487)

•

en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:'second wind' phenomenon

•

en:(1) infantile nephropathic (219800)

•

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

•

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

•

en:abnormal transferrin pattern tends to improve with age

•

en:about 25% of cases due to new mutations

•

en:about half of patients become wheelchair bound after long duration

•

en:adult onset (range 45 to 70 years)

•

en:affects 1 to 3% of the population

•

en:age of onset 1 to 2 years

•

en:age of onset 28 to 70 years

•

en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768)

•

en:based on 1 report of monozygotic twins (last curated may 2014)

•

en:approximately 60% of cases are due to somatic mutations and are unilateral

•

en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3

•

en:a milder form has also been reported

•

en:average onset of seizures 6 months (range 3-12)

•

en:autosomal recessive omodysplasia has also been described (258315)

•

en:associated with iron deficiency anemia

•

en:associated with hla-dqa1*01, hla-dqb1*05, and hla-dqa1*01/dqb1*05 high association with hla-drb1*0102 (relative risk 167.1)

•

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

•

en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770)

•

en:anemia may show onset in infancy

•

en:allelic with retinitis pigmentosa 35 (610282)

•

en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299)

•

en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800)

•

en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900)

•

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

•

en:episodes brought on by fasting or infection

•

en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014)

•

en:favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid)

•

en:may not be clinically manifest until middle life

•

en:infantile onset

•

en:intrauterine fetal death

•

en:later onset may occur

•

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

•

en:lifetime risk of breast cancer in male mutation carriers in 6%

•

en:loss initially affects mid and high frequencies

•

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

•

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

•

en:majority of cases have bilateral involvement

•

en:majority of cases occur in brazilian population

•

en:manifestations continue to appear until 5th decade

•

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

•

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

•

en:may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders

•

en:may occur in adults (also in pregnancy)

•

en:increased frequency in persian jews (1:1,300)

•

en:most cases sporadic

•

en:favorable response to immunotherapy

•

en:neurologic symptoms may develop decades later

•

en:neurologic signs are present in the neonatal period only

•

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

•

en:motor developmental delay

•

en:most patients retain ambulation with aids

•

en:most affected infants die in the first month of life

•

en:mean age at diagnosis is 38 years(range 11-63 years)

•

en:mosaic distribution of lesions

•

en:mortality, premature

•

en:more commonly observed in women

•

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

•

en:mean age of onset 21 years (range 14-35 years)

•

en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years)

•

en:increased susceptibility to malignant hyperthermia

•

en:many patients become wheelchair-bound by second or third decade

•

en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region

•

en:four unrelated families of caucasian european descent have been reported (last curated february 2015)

•

en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629)

•

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

•

en:genetic heterogeneity (see cms1a1, 605809)

•

en:genetic heterogeneity (see 166600)

•

en:genetic heterogeneity, see spg3a (182600)

•

en:genetic anticipation associated with progressive telomere shortening

•

en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%)

•

en:genetic heterogeneity (see rmd, 606072)

•

en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year)

•

en:fishy body odor

•

en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada

•

en:female carriers may be affected

•

en:females may be unaffected or mildly affected

•

en:incidence of 1 in 1.5 million births

•

en:genetic heterogeneity (see npc2, 607625)

•

en:favorable response to oral creatine treatment

•

en:good response to vitamin d treatment

•

en:high frequency among individuals of ashkenazi jewish descent (1 in 3,300)

•

en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012)

•

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

•

en:hyperpigmented patches increased in size and number with age

•

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

•

en:high recurrence rate

•

en:high prevalence in japan

•

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

•

en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230)

•

en:heterozygotes may exhibit syndromic manifestations

•

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

•

en:heterogeneous disorder

•

en:haploinsufficiency of rps14 (130620)

•

en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol

•

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

•

en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990)

•

en:see ebn1 (121200) for an autosomal dominant form

•

en:seizures may persist into adulthood

•

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

•

en:some families have axonal cmt (cmt2m)

•

en:skin wrinkling improves with age

•

en:sex ratio of 4-4.5 males to 1 female

•

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

•

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

•

en:sleepwalking triggered by alcohol, sleep deprivation, stress

•

en:slow progression

•

en:some carrier females may manifest mild symptoms

•

en:see also dyssegmental dysplasia, silverman-handmaker type (224410)

•

en:see also pachyonychia congenita, type 3 (pc1, 167200)

•

en:protein s deficiency is found in 2-3% of patients with thromboembolism

•

en:see also autosomal dominant giant axonal neuropathy (610100)

•

en:prognosis good

•

en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes

•

en:prevalence of 1 in 150,000

•

en:prevalence of 1 in 227 hopi indians

•

en:prevalence of 7 in 100,000 live births

•

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

•

en:primary teeth affected greater than secondary teeth

•

en:progression of phenotype with age

•

en:secondary tumors develop within the skin lesions

•

en:progressive renal disorder

•

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

•

en:rapid disease progression from ages 40 to 50 years

•

en:rarely, patients with childhood-onset may lose the renal phosphate-wasting defect

•

en:reduced penetrance (approximately 54%)

•

en:relatively slow progression

•

en:some features are variable, even within families

•

en:young adult onset (range 13 to 50 years)

•

en:some patients do not develop stroke

•

en:variable features and severity

•

en:upper urinary tract usually normal

•

en:usually progressive

•

en:variable abnormalities

•

en:variable age at onset

•

en:variable age at onset (infant to adult)

•

en:variable expression and severity

•

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

•

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

•

en:variable presentation

•

en:variable response to acetylcholinesterase inhibitors

•

en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior

•

en:visceral manifestations are less apparent

•

en:visual symptoms present by late childhood

•

en:waddling gait, often presenting sign in second year

•

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

•

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

•

en:some patients have cessation of seizures at a mean of 12 years

•

en:syndromic forms of dense granule only platelet storage pool deficiencies (delta-spd) include hermansky-pudlak syndrome (203300) and chediak-hygashi syndrome (214500)

•

en:some patients may show neurologic improvement late in life

•

en:spontaneous resolution by 12 months of age with no recurrence later in life

•

en:spontaneous resolution usually after 12 months of age

•

en:sporadic occurrence is associated with advanced paternal age

•

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

•

en:symptoms usually appear in adulthood

•

en:the majority of patients (~95%) have 1 of 3 mtdna point mutations (g3460a 516000.0001, g11778a 516003.0001, or t14484c 516006.0001)

•

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

•

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

•

en:three unrelated caucasian patients have been reported (as of january 2012)

•

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

•

en:two japanese families have been reported (as of february 2012)

•

en:two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013)

•

en:two patients without cardiomyopathy or cataracts have been reported

•

en:present in jewish yemenite population

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=8037588 • caches: c1=8 c2=1003 c3=1

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