Diko : en:full recovery after attacks

en:full recovery after attacks

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C3279118

Associations d'idées

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1000

en:variable age of onset of renal manifestations

•

en:mean age of onset 14-24 months

•

en:some patients may benefit from coenzyme q10 treatment

•

en:some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age

•

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

•

en:severe volume depletion

•

en:ratio female to male, 19:10 in index family

•

en:poor response to levodopa treatment

•

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

•

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

•

en:neurologic symptoms may occur after trauma

•

en:later onset in females

•

en:half of cases show retarded head circumference equal to height retardation

•

en:good response to l-dopa initially

•

en:fatal before age 2 years

•

en:death usually occurs in infancy or childhood if untreated

•

en:congenital disorders

•

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

•

en:carrier frequency 1:1,000 in french-canadians in quebec

•

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

•

en:affected fetuses frequently undergo spontaneous abortion

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en:service comment 50:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:upper limb involvement occur later

•

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

•

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

•

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

•

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

•

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

•

en:adams-stokes syndrome

•

en:two japanese patients have been reported (last curated march 2013)

•

en:treatment with coq10 may result in some clinical improvement

•

en:spontaneous resolution of seizures by 12 months of age

•

en:severe neurodegenerative course resulting in a comatose state or death

•

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

•

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

•

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

•

en:onset in neonatal period or before age 2 years

•

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

•

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

•

en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported

•

en:earlier onset is associated with more aggressive disease course

•

en:may have seasonal variance in severity

•

en:allelic disorder to benign recurrent intrahepatic cholestasis (bric1, 243300)

•

en:a second family had mild intellectual disability

•

en:based on report of 1 family (last curated february 2015)

•

en:association of cardiac events with exercise

•

en:extrapyramidal signs show a favorable response to levodopa

•

en:familial cases are rare and show incomplete penetrance

•

en:haploinsufficiency of rps14 (130620)

•

en:heterozygotes are usually asymptomatic

•

en:liver involvement can range from mild to severe

•

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

•

en:rare autosomal dominant inheritance has been reported

•

en:prevalence of 1 in 40,000 to 1 in 80,000

•

en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002)

•

en:onset of spasticity in childhood

•

en:onset in infancy or late childhood

•

en:onset before age 2 years

•

en:only female patients reported (last curated october 2013)

•

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

•

en:normal first month

•

en:may be seen in combination with duchenne muscular dystrophy (dmd, 310200) and/or glycerol kinase deficiency (307030) as part of a contiguous gene deletion syndrome

•

en:associated with increased frequency of autoimmune diseases

•

en:good response to medication

•

en:genetic heterogeneity (see coxpd1, 609060)

•

en:cancer onset usually in mid-adulthood

•

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

•

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

•

en:anemia may show onset in infancy

•

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

•

en:age at onset 14 to 44 years

•

en:50% of cases are de novo

•

en:20-40% patients are asymptomatic

•

en:triggers are variable, even within a family

•

en:renal anomalies are not always present

•

en:occurs much more commonly in women

•

en:variable age of onset (childhood to adult)

•

en:prevalence 1 in 8000

•

en:13% of cases secondary to familial translocation (often maternally derived)

•

en:variable age at onset, early childhood to adult

•

en:syncope

•

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

•

en:some more severely affected patients may die in infancy

•

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

•

en:seizures are followed by drowsiness in most cases

•

en:reported in 2 sibs (february 1991)

•

en:recurrent acute episodes

•

en:some families have axonal cmt (cmt2m)

•

en:onset of seizures between 2 and 5 years

•

en:levodopa-responsive

•

en:about 10% of patients have a severe early onset in the first months of life

•

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

•

en:allelic disorder to miyoshi muscular dystrophy 3 (mmd3, 613319)

•

en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320)

•

en:independent ambulation is maintained

•

en:most patients have contiguous gene deletion syndrome involving xp22

•

en:obligatory heterozygotes are clinically unaffected

•

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

•

en:onset in first 2 decades

•

en:most cases due to de novo mutation

•

en:onset in childhood with exacerbation during puberty

•

en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620)

•

en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz)

•

en:onset between 6 and 14 years

•

en:onset between ages 16-55

•

en:onset in adulthood (third to fourth decade)

•

en:recurrence of symptoms after cholecystectomy

•

en:onset in males in first to third decade

•

en:onset usually in childhood or adolescence

•

en:pathogenic alleles have 19 to 33 repeats

•

en:rare survival to teens

•

en:six patients reported (last curated march 2015)

•

en:later childhood onset has been reported

•

en:symptoms usually last 30-60 minutes

•

en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother

•

en:allelic disorder to charcot-marie-tooth disease type 1a (118220)

•

en:incidence of 1 in 6,000 males

•

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

•

en:variable age at onset (8 to 62 years)

•

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

•

en:40 patients in 16 dominant kindreds reported (as of february 2012)

•

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

•

en:age of onset 6-12 years

•

en:based on report of 2 siblings and 1 patient (last curated december 2014)

•

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

•

en:incidence of 1 in 20,000 live births

•

en:death in early infancy (in some patients)

•

en:death occurs 10 to 20 years after onset

•

en:favorable response to treatment with minocycline or azithromycin

•

en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131)

•

en:homozygous patients have earlier-onset and more severe disease

•

en:incidence 1/20,000-1/64,000 male births

•

en:incidence of 1 in 1,000,000

•

en:some patients never achieve walking or running

•

en:variable cataract phenotypes within a family

•

en:onset between ages 1 to 3 years

•

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

•

en:no predisposition to skin tumor development

•

en:oculomotor apraxia is not always present

•

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

•

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

•

en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement

•

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

•

en:may regress

•

en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood

•

en:other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients

•

en:positive response to treatment with growth hormone

•

en:provoked by crying or emotional upset

•

en:severity of skin symptoms may vary within families

•

en:variable disease course

•

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

•

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

•

en:may be due to imprinting defect

•

en:favorable response to alcohol

•

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

•

en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia

•

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

•

en:based on 2 cousins in a consanguineous family (last curated august 2015)

•

en:cells of origin are part of the diffuse neuroendocrine system (dnes)

•

en:early lethality

•

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

•

en:frequency of attack, monthly - bimonthly

•

en:genetic heterogeneity (see 209850)

•

en:genetic heterogeneity (see cmt4a 214400)

•

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

•

en:improvement with age

•

en:intermediate expression in females

•

en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features

•

en:majority of patients from italy and southwestern united states

•

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

•

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

•

en:mean age of onset 56 years

•

en:one consanguineous arab israeli family has been reported (last curated february, 2013)

•

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

•

en:one patient from a consanguineous lebanese family and one patient from a consanguineous kurdish family have been reported (last curated april 2014)

•

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

•

en:patients may present with autoimmune features or primary immunodeficiency

•

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

•

en:phenotypic overlap with desbuquois dysplasia (251450)

•

en:rarely, patients may be asymptomatic

•

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

•

en:secondary features include arterial hypertension and renal involvement

•

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

•

en:intrafamilial variability in degree of nail involvement

•

en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20%

•

en:considered to be a severe form of gaucher disease type ii (230900)

•

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

•

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

•

en:visceral manifestations are less apparent

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

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

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en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:allelic corneal dystrophy groenow type (121900), thiel-behnke type (602082), lattice type i (122200), avellino type (607541), reis-bucklers type (608470) and epithelial basement membrane (121820)

•

en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350)

•

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

•

en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion

•

en:caused by constitutive activation of the avpr2 receptor

•

en:early childhood onset (before age 5 years)

•

en:episodes last 2 days to 1 week

•

en:exacerbation following stress, decreased food intake, or alcohol use

•

en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype

•

en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase

•

en:high early mortality rate if untreated

•

en:variable age at onset, ranging from prelingual at birth to fifth decade

•

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

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

•

en:skin lesions tend to occur on distal extremities or at elbows and knees

•

en:onset usually in adulthood

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en:partial or absent response to steroid treatment

•

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

•

en:phenotypic overlap with currarino syndrome (176450)

•

en:seventy percent of cases are stillborn

•

en:some affected individuals have normal subsequent development

•

en:non-tender

•

en:some patients do not develop renal failure

•

en:survival to 10 years

•

en:three major clinical forms are apparent

•

en:twinning due to superfetation

•

en:two main phenotypes, metabolic and neurologic

•

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

•

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

•

en:onset between birth and 3 months of age

•

en:three main clinical forms

•

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

•

en:de novo mutation in heterozygotes

•

en:mean age at onset 27 years (range 9 to 42)

•

en:approximately 60% of brrs patients have pten mutations

•

en:approximately 70-80% of cases are de novo and sporadic

•

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

•

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

•

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

•

en:bleeding is usually delayed-onset after challenge

•

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

•

en:mean age at onset 12.5 years (range 2 to 15 years)

•

en:incidence of 1 in 100,000 to 125,000 at birth

•

en:variable features present

•

en:life-threatening in infancy due to sepsis

•

en:limited clinical information provided

•

en:major fetal plasma protein produced by yolk sac and liver

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

•

en:most patients die in infancy

•

en:normal alleles contain up to 30 repeats

•

en:one family reported (last curated november 2011)

•

en:onset between ages 2 and 5 years

•

en:onset in infancy (3 months on)

•

en:respiratory distress may be precipitated by viral respiratory infection

•

en:onset in third decade

•

en:patients between 30 and 60 years have discomfort with prolonged standing

•

en:see also mmab (251110)

•

en:madelung deformity more frequent and more severe in females

•

en:see also pgl1 (168000)

•

en:more prevalent in females

•

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

•

en:left side involvement more frequent than right side involvement

•

en:heterogeneous disorder

•

en:genetic heterogeneity, see (203300)

•

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

•

en:favorable response to anticholinesterase medication

•

en:clinical and biochemical symptoms improved with oral administration of creatine monohydrate

•

en:average age at diagnosis 17.8 years (range 2-35 years)

•

en:autosomal recessive inheritance with earlier onset has been reported in 3 patients

•

en:allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, 253601)

•

en:age of onset between 5 and 10 years of age

•

en:35% of cases involve ileum only (ileitis), 45% of cases involve ileum and colon (ileocolitis), 20% of cases involve colon alone - rectum spared (granulomatous colitis)

•

en:time of analysis:tmstp:pt:xxx:qn

•

en:some patients may show mild decrease in head circumference over time

•

en:some patients develop diabetes mellitus as adolescents

•

en:variable number of nails involved

•

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

•

en:motor delay

•

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

•

en:thromboembolism is the most common cause of death

•

en:sudden death secondary to impaction of medulla oblongata

•

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

•

en:progresses to involve upper limbs

•

en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache

•

en:prenatal diagnosis by ultrasound

•

en:onset 30-40 years of age

•

en:one patient with unrelated german parents has been reported (last curated february 2016)

•

en:no family history of

•

en:neonatal and late-infantile onset

•

en:onset in childhood (range infancy to 14 years)

•

en:mean age at onset of migraines is 42 years

•

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

•

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

•

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

•

en:98% of finnish cases due to one mutation

•

en:acute episodes decrease with age and disappear

•

en:allelic to trp1 (190350)

•

en:very slow progression

•

en:common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70)

•

en:death in childhood occurs without bone marrow transplantation

•

en:difficulty walking

•

en:females have milder manifestations than males

•

en:lower limb involvement precedes upper limb involvement

•

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

•

en:onset 5-30 years

•

en:onset ages 2 to 14 years

•

en:onset in early childhood to puberty

•

en:onset in infancy of acute hypoglycemic episodes

•

en:onset usually between 30 and 50 years of age

•

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

•

en:phenotypic similarities to costello syndrome (218040)

•

en:prevalence 1 in 1,250

•

en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood)

•

en:symptoms worsen with fatigue and exercise

•

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

•

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

•

en:thoracic abnormalities tend to improve with age

•

en:most patients die in the first days of life

•

en:adult onset (mean age 37 years)

•

en:majority of cases diagnosed at age 10-15 years

•

en:brain mri abnormalities show improvement with time

•

en:very low occurrence of retinal, hepatic, pancreatic, and renal anomalies

•

en:acquired sporadic disorder

•

en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800)

•

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

•

en:allelic to acrocapitofemoral dysplasia (607778)

•

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

•

en:clove - congenital lipomatous overgrowth, vascular malformations, and epidermal nevi

•

en:increased frequency in individuals originating from western scotland

•

en:diabetes mellitus diagnosed between third and fifth decades of life

•

en:earlier onset is associated with more rapid progression

•

en:early death may occur due to infection

•

en:early death may occur without bone marrow transplant

•

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

•

en:highly variable clinical and immunologic phenotype

•

en:two consanguineous pakistan families have been described

•

en:additional features are variably present

•

en:mean age of onset, 5 years

•

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

•

en:three types of cystinosis are recognized

•

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

•

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

•

en:prevalence of 1 in 10,000 african-americans

•

en:periodontium is less severely affected than in papillon-lefevre syndrome

•

en:onset in the perinatal period

•

en:onset at day 1 of life has been reported

•

en:onset age 14-28 years

•

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

•

en:one consanguineous moroccan family has been reported (as of january 2012)

•

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

•

en:mother had rubella infection during pregnancy with daughter

•

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

•

en:sporadic occurrence

•

en:males mores severely affected than females

•

en:death usually in infancy due to respiratory failure

•

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

•

en:autosomal dominant omodysplasia has also been described (164745)

•

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

•

en:cataract evident at birth

•

en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad

•

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

•

en:a severe infantile variant has been rarely reported

•

en:development of afebrile seizures later in childhood

•

en:left side involvement associated with serious cardiac defect

•

en:generally considered to be a benign disorder

•

en:genetic heterogeneity, see apmr1 (203650)

•

en:genetic heterogeneity (see 266900 for summary)

•

en:incidence of 1 in 100,000 births

•

en:feeding difficulties, including aspiration, ameliorate with age

•

en:myoclonus is presenting symptom

•

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

•

en:one patient has been reported (as of july 2010)

•

en:onset in childhood or adolescence

•

en:onset often begins in childhood or adolescence

•

en:seizure frequency decreases during early childhood

•

en:onset of dementia in the thirties or forties

•

en:prevalence estimated at 1 in 86,000

•

en:seizure onset in first months or years of life

•

en:severe phenotype

•

en:some patients survive infancy

•

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

•

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

•

en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400)

•

en:may respond to cholinesterase inhibitors of amifampridine

•

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

•

en:genetic heterogeneity (see bscl1, 608594)

•

en:complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle

•

en:colorectal cancer develops by fourth decade in untreated patients

•

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

•

en:based on description of 1 family (last curated april 2006)

•

en:allelic disorder to schindler disease (609241)

•

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

•

en:accounts for 70% of all usher syndrome patients

•

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

•

en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative

•

en:affected males are somatic mosaic for mutations

•

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

•

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

•

en:age at onset ranges from 50 to 70 years

•

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

•

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

•

en:some features may be variable

•

en:associated with untreated phenylketonuria (261600)

•

en:poor outcome

•

en:onset of ataxia in early childhood (range 15 months to 3 years)

•

en:onset of acute encephalopathic attacks in childhood (3 to 7 years)

•

en:onset at birth or early childhood

•

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

•

en:neurologic features are variable and not progressive

•

en:motor symptoms develop later (about 5 years into illness)

•

en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene

•

en:onset in young adulthood or adulthood

•

en:majority are sporadic cases, affected sibs have been described

•

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

•

en:low physical performance

•

en:complete penetrance

•

en:contiguous gene deletion syndrome (in most patients)

•

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

•

en:dysarthria, dysphonia, or cough precede onset of ataxia

•

en:cardiac failure at birth

•

en:eye and vestibular findings were found in some members of one family

•

en:features intermediate between demyelinating cmt and axonal cmt

•

en:heterozygous parents are phenotypically normal but their cells show premature chromatid separation trait (pcs, 176430)

•

en:high intrafamilial and interfamilial variability

•

en:increased bleeding after surgery

•

en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both

•

en:onset - present at birth

•

en:onset mid to late adulthood

•

en:onset of bleeding in infancy or early childhood

•

en:onset usually in infancy or early childhood

•

en:onset usually in the neck

•

en:right side affected greater than left side

•

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

•

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

•

en:most reported cases come from the island of mauritius or nearby islands

•

en:skin changes have onset in childhood

•

en:some patients have only plantar surface involvement

•

en:splenectomy increases thrombotic risk in these patients

•

en:one family with 5 affected members has been reported (last curated september 2012)

•

en:80% cases new mutations

•

en:most become wheelchair-bound late in life

•

en:intrafamilial variability

•

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

•

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

•

en:earliest symptom onset in sixth decade of life

•

en:does not lead to hepatic failure

•

en:digenic form type id/f caused by digenic mutation in the cdh23 (605516) and pcdh15 genes

•

en:considered a myeloproliferative disorder

•

en:congenital onset leading to cochlear implants between 7-10 years of age in ashkenazi jewish families

•

en:breech presentation

•

en:autosomal dominant with incomplete penetrance

•

en:ambulation is preserved

•

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

•

en:absence seizures show onset between 3.5 and 4 years

•

en:survival 30 to 40 years after onset

•

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

•

en:most common muscle disease of older persons

•

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

•

en:onset of neurologic events can occur between 4 and 35 years of age

•

en:increased prevalence in the french-canadian population

•

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

•

en:male to female ratio 7:1

•

en:moderate age-related improvement of pancreatic function

•

en:most patients remain ambulatory in adulthood

•

en:onset age 20 to 51 years

•

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

•

en:incidence 8/1,000 newborns

•

en:seizures usually remit spontaneously by 12 months of age

•

en:some patients may have unilateral involvement, may be able to raise the eye above midline, or may not have ptosis--these patients are classified as having cfeom3 (cfeom3b)

•

en:some patients with heterozygous mutations may be symptomatic

•

en:usually fatal in first 2 decades

•

en:usually fatal within the first few weeks of life

•

en:visual field and color defects invariably present only in patients with advanced loss of vision

•

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

•

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

•

en:adult onset of neurologic symptoms has been reported in 1 family

•

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

•

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

•

en:wheelchair-bound average 12 years after onset

•

en:affected, mild - 50-150 repeats

•

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

•

en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041)

•

en:age of onset 5 to 40 years

•

en:autosomal recessive and dominant pedigrees described

•

en:cardiac involvement occurs between 5 and 12 years

•

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

•

en:death may occur in infancy

•

en:dysmorphic features are mild or variable

•

en:early death in some patients due to cardiorespiratory involvement

•

en:hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum

•

en:type 2a is characterized by deficiency of high molecular weight monomers

•

en:usher syndrome type iii (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus

•

en:some carrier females have mild features

•

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

•

en:type a characterized by progressive myoclonic epilepsy

•

en:variable severity of phenotype and other features may be present

•

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

•

en:two patients required liver transplantation

•

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

•

en:usually adult onset

•

en:variable age at onset (range 6 to 54 years)

•

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

•

en:variable age at onset, first to second decades

•

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

•

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

•

en:variable age at onset (range 14 to 50 years)

•

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

•

en:variable age at onset of symptoms (from childhood to the sixth decade of life)

•

en:variable expression and severity

•

en:variable features and severity

•

en:variable ictal semiology

•

en:variable involvement of hematologic parameters

•

en:variable severity, ranging from 'typical' to 'severe' disease

•

en:trauma may accelerate symptoms

•

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

•

en:sporadic cases often single lesions versus multiple lesions in familial cases

•

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

•

en:variably expressivity

•

en:some features not found in all patients

•

en:some females are affected

•

en:some female carriers are more mildly affected

•

en:some female patients can conceive after administration of gonadotropins

•

en:some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents

•

en:some patients do not develop stroke

•

en:some patients have a crouzon-like appearance

•

en:some patients have a severe phenotype with neurologic manifestations beginning at birth

•

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

•

en:some patients may have isolated myokymia

•

en:some patients may need surgery or renal transplant

•

en:some patients may not have recurrent infections

•

en:stillbirth

•

en:subtype 3a comprises myoclonus and dementia

•

en:survivors may develop renal insufficiency and hepatic dysfunction

•

en:symptoms are not apparent at rest

•

en:symptoms are often responsive to alcohol

•

en:symptoms begin focally, later segmental or generalized

•

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

•

en:symptoms improve following sleep

•

en:symptoms tend to improve with age

•

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

•

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

•

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

•

en:three times more common in males

•

en:variable survival

•

en:based on 1 4-generation chinese family

•

en:variant at may present with dystonia only

•

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

•

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

•

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

•

en:approximately 10% of als cases are familial

•

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

•

en:arrhythmias detected prenatally (in some patients)

•

en:associated with several loci on chromosomes 11p15 (wt2, 194071), 16 (wt3, 194090), 17 (wt4, 601363), and 7 (wt5, 601583).

•

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

•

en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features

•

en:average age at onset 16.6 years

•

en:axial skeleton most commonly affected

•

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

•

en:some affected family members are asymptomatic

•

en:based on 1 reported family with oca6

•

en:based on 2 men from 2 unrelated consanguineous iranian families

•

en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610)

•

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

•

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

•

en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015)

•

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

•

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

•

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

•

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

•

en:benign condition

•

en:blistering tends to improve with age

•

en:bone fragility is not apparent at birth, but becomes evident within several months of life

•

en:carrier females show no clinical phenotype

•

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

•

en:caused by inborn error in bile acid synthesis

•

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

•

en:allelic to myosin storage myopathy (608358)

•

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

•

en:affected individuals may have learning or behavioral problems during the period when seizures occur

•

en:vast majority of heterozygotes are asymptomatic

•

en:wide spectrum of severity

•

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

•

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

•

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

•

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

•

en:blood glucose monitor with integrated lancing/blood sample

•

en:35% of patients have facial dysmorphism

•

en:acute attacks rarely occur before puberty

•

en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth

•

en:adult onset of muscle symptoms

•

en:affected individuals in 1 family also exhibited severe asymmetric lower limb anomalies, which were believed to be due to mutation in another gene

•

en:age at onset 3 to 23 years

•

en:allelic to multiple pterygium syndrome, lethal type (253290)

•

en:age of onset 23-59 years

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe

•

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

•

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

•

en:allelic to mevalonic aciduria (610377)

•

en:allelic to mucopolysaccharidosis ivb

•

en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features

•

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:sleep disturbance or sleep apnea (obstructive, central, or mixed)

•

en:onset 5 to 10 years of age

•

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

•

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

•

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

•

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

•

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

•

en:one family reported (last curated january 2014)

•

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

•

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

•

en:one patient (patient b) with autosomal recessive inheritance had a more severe phenotype

•

en:one patient had onset at birth and a more severe disorder resulting in death at a young age

•

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

•

en:one report of brother and sister from nonconsanguineous parents

•

en:onset 1-12 years

•

en:onset 6 to 12 months

•

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

•

en:onset before 50 years of age

•

en:onset before age 5 years in the absence of instruction

•

en:onset between 34 and 51 years of age

•

en:onset between 3 and 8 months of age

•

en:onset between second to sixth decades of life

•

en:onset by age 2 years

•

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

•

en:onset from first to third decades of life

•

en:onset in childhood (mean 6 years)

•

en:onset in childhood (range 1 to 9 years)

•

en:onset in females ranges from third to seventh decade

•

en:onset in first decade (range 1 to 9 years)

•

en:onset in first months of life

•

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

•

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

•

en:onset in teens to 20's

•

en:metabolic encephalomyopathic crises often triggered by infection

•

en:childhood onset (average 4 to 6 years)

•

en:majority of cases are male

•

en:male patients have more severe disease than female patients

•

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

•

en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders

•

en:manifests in infancy (including neonatal lethal) or childhood

•

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

•

en:many studies have reported that the phenotype of tuberous sclerosis-1 (tsc1) is less severe than that of tuberous sclerosis-2 (i.e., higher iq, less macules, fewer seizures)

•

en:marked favorable response to l-dopa treatment

•

en:massive aortic aneurysm can cause airway compression in affected infants

•

en:mean age at onset of bone disease is 40 years (range 23-65)

•

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

•

en:median life expectancy, 13.4 years

•

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

•

en:often results in death in childhood

•

en:more common in men than women

•

en:mortality, premature

•

en:most patients remain ambulatory

•

en:most patients require renal transplantation

•

en:most types show autosomal dominant inheritance

•

en:movements worsened by anxiety

•

en:muscle weakness increases with age

•

en:new skin lesions stop appearing before adolescence

•

en:nonspecific subtle dysmorphic facial features may be present

•

en:nonsyndromic disorder

•

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

•

en:occurs in full-term infants

•

en:occurs in the absence of trauma

•

en:onset in fourth to fifth decade

•

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

•

en:skewed x-inactivation, with complete skewing in some individuals

•

en:risk of affected offspring in paternal translocation carrier - 0-7%

•

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

•

en:progressive

•

en:progressive disease

•

en:progressive disorder, usually with rapid, relentless course

•

en:prominent psychiatric symptoms

•

en:pyogenic arthritis, pyoderma gangrenosum and acne

•

en:quinidine therapy may be effective

•

en:rapid progression in adolescence

•

en:rare adult cases reported

•

en:recurrent bacterial infections with onset in the first or second year of life

•

en:reduced fertility

•

en:reported patients are asymptomatic

•

en:risk haplotype found in dutch families

•

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

•

en:see also cblc (277400)

•

en:seizures are responsive to pyridoxine treatment

•

en:seizures are usually intractable

•

en:seizures recur in 33% of patients

•

en:seizures usually remit in adolescence

•

en:severity of hematologic disorder decreases with advancing age

•

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

•

en:prevalence ranges from 1 in 12,000 to 1 in 50,000

•

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

•

en:onset of cough in early adulthood

•

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

•

en:onset of diabetes in neonatal period/ early infancy

•

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

•

en:onset of hearing loss in late childhood

•

en:onset of hemolytic anemia shortly after birth

•

en:onset of kyphosis in childhood

•

en:onset of lipodystrophy later in childhood

•

en:onset of neurologic disease in early adulthood

•

en:onset of neurologic features is variable, even within the same family (range early childhood to adult)

•

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

•

en:onset of seizures in infancy or early childhood

•

en:onset of symptoms in early childhood

•

en:onset of symptoms in third to sixth decade of life

•

en:onset of symptoms often associated with nonspecific febrile illness

•

en:onset ranges from young adulthood to sixties

•

en:prevalence of 1 in 227 hopi indians

•

en:pain is relieved by antiinflammatory medication

•

en:pathogenic alleles contain 75-11,000 repeats

•

en:patients may become wheelchair-bound

•

en:patients may die in infancy or childhood due to respiratory failure

•

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

•

en:patients with null mutations have neonatal onset within 72 hours of birth

•

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

•

en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950)

•

en:phenotypic variation in severity and symptoms

•

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

•

en:prenatal or neonatal onset

•

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

•

en:prevalence in finland is 1 in 25,000

•

en:childhood absence epilepsy (eca1 600131, eca2 607681, eca3 607682)

•

en:variable age at onset (range birth to teenage years)

•

en:classic severe form shows onset at 2 to 3 months of age

•

en:relatively benign course after acute episodes in childhood

•

en:phenotype combines features of hirschsprung disease (142623), charcot-marie-tooth disease type 1 (cmt1b, 118200), waardenburg-shah syndrome (277580), and central dysmyelinating leukodystrophy (312080)

•

en:phenotypic variability

•

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

•

en:preaxial involvement in approximately 60% of patients

•

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

•

en:presents as early-onset strokes in 43% of patients

•

en:presents at a later age than sporadic wilms tumor

•

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

•

en:prevalence of 1 in 240 zuni indians

•

en:prevalence of true hypoprothrombinemia is 1 in 2 million

•

en:rapidly progressive (6-24 months)

•

en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy

•

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

•

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

•

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

•

en:secondary tumors develop within the skin lesions

•

en:see 177850 for description of heterozygous phenotype

•

en:see 609888 for a discussion on leprosy susceptibility

•

en:see also distal hmn2a (158590)

•

en:see also oca1a (203100)

•

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

•

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

•

en:seizures are easily controlled by medications

•

en:seizures may be triggered by infection

•

en:seizures usually occur in the first months of life

•

en:severe clinical course

•

en:persistent exposure to fructose leads to chronic liver and kidney complications

•

en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt

•

en:short stepped shuffling gait

•

en:onset of symptoms at 2-4 months

•

en:onset in second decade

•

en:onset in the second or third decade of life

•

en:onset in third or fourth decades

•

en:onset in third to fourth decade

•

en:onset in utero or early infancy

•

en:onset late childhood

•

en:onset of bleeding symptoms in childhood or young adulthood

•

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

•

en:onset of febrile seizures typically between 6 months and 6 years of age

•

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

•

en:onset of hypoglycemia and hyperinsulinism in the neonatal period

•

en:onset of seizures in infancy

•

en:onset of symptoms 2-4 weeks of age

•

en:onset of symptoms in adolescence or early adulthood

•

en:patients retain ambulation even after long disease course

•

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

•

en:onset of symptoms in third to fourth decade of life

•

en:onset ranges from 2 days to 7 months (most at 2-3 months)

•

en:onset second decade of life

•

en:onset usually before age 10 years

•

en:onset usually in third decade of life

•

en:onset usually in young adulthood

•

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

•

en:patients become wheelchair-bound as adults

•

en:patients may or may not have dysmorphic features

•

en:patients may show intermittent signs of improvement

•

en:patients need lifelong total parenteral nutrition

•

en:patients often have a more severe and complicated phenotype in addition to peo

•

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

•

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

•

en:onset in infancy (1-2 years)

•

en:two patients have been reported

•

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

•

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

•

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

•

en:two subtypes noninflammatory type a and inflammatory type b

•

en:usually affects children

•

en:two consanguineous turkish families have been reported (last curated january 2015)

•

en:usually fatal

•

en:usually poor response to steroid treatment

•

en:usually symptomatic in adulthood with history of weakness since infancy or childhood

•

en:variable age at onset, ranging from 18 months to 27 years

•

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

•

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

•

en:variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals

•

en:variable phenotype and severity

•

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

•

en:variable phenotype within families

•

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

•

en:variable severity (in patients with hsan2d)

•

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

•

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

•

en:two consanguineous families with two affected sibs each have been reported (last curated february 2016)

•

en:sudden death in affected males occurs in teens

•

en:skewed x-inactivation in carriers

•

en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities

•

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

•

en:some patients carry heterozygous mutations

•

en:some patients develop ophthalmoplegia in middle age

•

en:some patients have a contiguous gene syndrome due to loss of adjacent genes (sts, 308100 and kal1, 300836) on xp22.3 via deletions and translocations

•

en:some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood

•

en:some patients show infantile onset

•

en:some pedigrees are consistent with autosomal dominant inheritance

•

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

•

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

•

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

•

en:sudden death due to cardiomyopathy

•

en:survival greater than one year rare

•

en:two clinical forms - type i (deficiency of b5r is isolated to erythrocytes) and type ii (deficiency of b5r in all cell types)

•

en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350))

•

en:swelling starts to fade by age 30 years and gradually becomes unremarkable

•

en:symptoms noted at 2-3 years

•

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

•

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

•

en:symptoms usually induced only by strenuous exercise

•

en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940)

•

en:therapy-induced dyskinesias

•

en:three patients from 1 mexican family has been reported (last curated april 2013)

•

en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age

•

en:trp2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the trps1 (604386) and ext1 (608177) genes

•

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

•

en:onset in first or second decade (range infancy to teenage years)

•

en:clinical features present only if mutation inherited on paternal allele

•

en:good response to fibrinolytic inhibitors

•

en:four patients from 3 unrelated families have been reported (last curated july 2012)

•

en:fracture frequency constant through childhood, decreases after puberty

•

en:frequency between 1 in 58,000 to 1 in 1,000,000

•

en:gastrointestinal anomalies are not always present

•

en:genetic heterogeneity (see, e.g., atfb1, 608583)

•

en:genetic heterogeneity (see 145410)

•

en:genetic heterogeneity (see 191100)

•

en:genetic heterogeneity (see bfic2, 605751)

•

en:genetic heterogeneity (see bscl2, 269700)

•

en:genetic heterogeneity (see gefs+, 604233)

•

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

•

en:good response to levodopa treatment

•

en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood

•

en:half (50%) of affected patients have a recurrent episode with worse outcome

•

en:hearing loss is nonprogressive

•

en:hearing loss is variable

•

en:heterozygotes have mild, transient hypothyroidism in infancy

•

en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment

•

en:highly variable phenotype and severity, even within families

•

en:high frequency in hutterite population

•

en:high frequency in the french-canadian population

•

en:high incidence in sweden and finland

•

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

•

en:icelandic families

•

en:four clinical forms of krabbe disease

•

en:fluoxetine therapy may be effective

•

en:incidence of 1 in 57,000

•

en:described in individuals of roma gypsy origin (founder mutation)

•

en:complete absence of melanin synthesis

•

en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty

•

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

•

en:considered a normal variant

•

en:death by age 5 (infantile form)

•

en:death in early childhood has been reported in some presumed homozygotes

•

en:death in early infancy

•

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

•

en:death often in early infancy

•

en:death often occurs during metabolic/acidotic crisis

•

en:death usually in newborn period or infancy

•

en:defect in tetrahydrobiopterin (bh4) synthesis

•

en:described in families from western japan

•

en:diurnal fluctuation

•

en:few patients with mild to moderate mental retardation

•

en:early death from respiratory failure may occur

•

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

•

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

•

en:episodes last about 1.5 hours

•

en:episodes not triggered by alcohol, caffeine, or stress

•

en:episodic metabolic decompensation usually associated with illness

•

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

•

en:exacerbation during febrile episodes

•

en:fatal if renal transplant is not performed

•

en:females tend to have earlier onset

•

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

•

en:fetal death

•

en:incidence 1 in 30,000 male births

•

en:incomplete penetrance (50%)

•

en:onset in early childhood or adolescence

•

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

•

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

•

en:nonsyndromic

•

en:normal ability to tolerate heat

•

en:normal development until onset of seizures

•

en:not all patients have dysmorphic facial features

•

en:no opportunistic infections

•

en:often presents with cranial or cervical involvement

•

en:one 5-generation acc family with mutation in bms1 has been described (last curated august 2014)

•

en:one chinese family with a confirmed mutation has been reported (last curated august 2015)

•

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

•

en:one consanguineous israeli bedouin kindred has been reported (last curated february 2016)

•

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

•

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

•

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

•

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

•

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

•

en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013)

•

en:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013)

•

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

•

en:only individuals homozygous for risk or non-risk alleles were studied

•

en:onset 20-55 years of age

•

en:onset at 4 to 9 weeks of age

•

en:onset before age 5 years

•

en:onset between 28 and 42 years

•

en:onset in childhood, adolescence

•

en:onset in childhood (6-7 years)

•

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

•

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

•

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

•

en:mousy odor

•

en:increased frequency among japanese and chinese

•

en:males are more severely affected than females

•

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

•

en:increased tendency to chromosomal nondisjunction

•

en:inflammatory bowel disease may develop in childhood or adolescence

•

en:intellectual disability is variable

•

en:intermittent exacerbations

•

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

•

en:itch, pain, and body malodor often

•

en:later onset is associated with slower progression and lesser severity

•

en:later onset of neurologic features

•

en:late infantile onset 6-24 months

•

en:loss of independent walking by teenage years (in some)

•

en:majority cases are sporadic

•

en:majority of cases from middle eastern countries

•

en:males died in neonatal period

•

en:most patients become wheelchair-bound in the second or third decades

•

en:many features are present only in an untreated patient

•

en:many patients become wheelchair-bound later in life

•

en:may be same disorder as autosomal recessive optic atrophy 3 (258501)

•

en:may respond to cholinesterase inhibitors

•

en:mean age at termination 3 to 4 years

•

en:mean age of onset 30 years (range 25-42)

•

en:mean age of onset 50 to 52 years

•

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

•

en:median age of onset of pigmentation - 8 years (range 1-15 years)

•

en:milder form with onset in childhood, absence seizures, and learning difficulties

•

en:mild involvement of face and arms

•

en:mode of inheritance is unclear

•

en:most common form of bowel obstruction in infancy

•

en:majority of cases (95%) are sporadic

◀

Génériques

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en:full

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6946169 • caches: c1=28 c2=1191 c3=11

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