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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C3150236

Associations d'idées

[F]

›

1000

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

•

en:mean age at diagnosis 16 years (range 6 to 22)

•

en:reported in a large hutterite family

•

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

•

en:prevalent in north africa

•

en:presents at a later stage than sporadic wilms tumor

•

en:positive family history in 12-33% patients

•

en:phenotypic overlap with xeroderma pigmentosum (see, e.g., 278700)

•

en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene

•

en:onset usually in infancy although later onset may occur

•

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

•

en:not all patients have a myopathy

•

en:most patients die of renal failure in early adulthood

•

en:metabolic encephalomyopathic crises often triggered by infection

•

en:males carry mutations in the somatic mosaic state

•

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

•

en:later onset may occur

•

en:infants are stillborn or die shortly after birth

•

en:increasing hypertension with increasing age

•

en:hyperthermia in early childhood

•

en:highly variable organ involvement and severity

•

en:febrile seizures remit by age 5 or 6

•

en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures

•

en:based on the report of one consanguineous pakistani family (last curated august 2015)

•

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

•

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

•

en:rapidly progressive

•

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

•

en:narcolepsy and deafness are the first symptoms

•

en:survivors may develop renal insufficiency and hepatic dysfunction

•

en:leg pain during childhood

•

en:prevalent among the amish

•

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

•

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

•

en:onset of thrombosis by age 2 years

•

en:onset occurs earlier in males than females

•

en:onset between 2 to 20 years

•

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

•

en:one family of sicilian origin has been reported (last curated february 2016)

•

en:neonatal severe hyperparathyroidism in homozygotes (239200)

•

en:motor delay

•

en:moderate age-related improvement of pancreatic function

•

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

•

en:lethal in first weeks of life

•

en:prelingual onset in males

•

en:leakage of fluid ('gusher') if the stapes is disturbed

•

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

•

en:incidence of 1 in 57,000

•

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

•

en:carrier females may have mild features

•

en:carrier females may present with postpartum hyperammonemia

•

en:fatal before age 2 years

•

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

•

en:hair may normalize at puberty

•

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

•

en:homozygotes have earlier onset and a more severe disorder

•

en:hypotonia may respond to treatment with pyridostigmine

•

en:hearing loss is progressive and initially affects high-frequencies

•

en:onset usually in first year of life

•

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

•

en:onset age 15-25 years

•

en:onset in fourth and fifth decades

•

en:see 607731 for an autosomal recessive form

•

en:phenotypic variation in severity and symptoms

•

en:plasma cholinesterase measurement

•

en:short limbs become more apparent during childhood

•

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

•

en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001)

•

en:no preceding skin inflammatory stage

•

en:distinct disorder from galactosemia (230400)

•

en:medial onset of end stage renal disease 13 years

•

en:mean age at onset 5 years

•

en:may be same entity as elejalde syndrome (256710)

•

en:lower limb involvement occurs before upper limb involvement

•

en:incidence of 1 in 500,000 live births

•

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

•

en:death frequent in severe infantile form

•

en:death before age 3 years

•

en:common in japan and other asian populations

•

en:because fetal chrng (100730) exhibits phenotypic rescue

•

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

•

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

•

en:adult onset - 100-1,000 repeats

•

en:variable survival

•

en:one individual carried a heterozygous mutation, whereas the other carried a homozygous mutation.

•

en:arthralgia

•

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

•

en:two patients reported (last curated may 2013)

•

en:stillborn or infantile death usual in prenatal form

•

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

•

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

•

en:phenotypic heterogeneity

•

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

•

en:onset usually in childhood

•

en:onset of spastic paraplegia in first year of life

•

en:onset of skin manifestations from birth to puberty

•

en:onset of optic atrophy in infancy or early childhood

•

en:onset of hearing loss in first or second decade

•

en:onset of dystonia at 12 years

•

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

•

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

•

en:onset at 4 to 9 weeks of age

•

en:death before age 15 in iia

•

en:female carriers are unaffected or show neuropsychiatric features

•

en:association of cardiac events with exercise

•

en:later onset has been reported

•

en:newborn period is critical for survival

•

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

•

en:mean age at onset of bone fractures, 24 years

•

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:more than half of patients develop retinal detachments and/or retinoschisis later in life

•

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

•

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

•

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

•

en:onset within first 6 months of life

•

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

•

en:intolerant of heat

•

en:precipitated by fatigue or alcohol

•

en:presentation in early childhood

•

en:prevalence of 1 in 10,000 caucasians

•

en:longer disease duration than creutzfeldt-jakob disease

•

en:death in utero

•

en:good response to l-dopa initially

•

en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965)

•

en:de novo mutation (in some patients)

•

en:associated with idiopathic generalized epilepsy (ige, 600669)

•

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

•

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

•

en:allelic to deafness, autosomal recessive 23 (609533)

•

en:allelic disorder to autosomal dominant spg13 (605280)

•

en:age of onset 30 to 60 years

•

en:23 patients from 2 kindreds reported (as of february 2012)

•

en:15% cases are familial

•

en:responsive to vitamin b12 therapy

•

en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622)

•

en:progressive cerebellar ataxia

•

en:seizure frequency decreases during early childhood

•

en:death within first year of life

•

en:sensorineural hearing loss may be presenting feature

•

en:visual impairment is present at birth and is progressive

•

en:some patients show significant clinical improvement with riboflavin supplementation

•

en:seizures remit in later childhood

•

en:prevalent among individuals of east asian descent

•

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

•

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

•

en:favorable response to l-dopa treatment

•

en:family a has 2 sibs born of consanguineous turkish parents with a milder phenotype with onset in childhood

•

en:dramatic late catch-up growth occurs in adolescence

•

en:onset in teens or young adulthood (range 13 to 45 years)

•

en:death in childhood often results from respiratory insufficiency

•

en:type 2n is characterized by decreased binding affinity for factor viii

•

en:skin lesions manifest in the first year of life

•

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

•

en:some patients have additional neurologic involvement

•

en:susceptibility to infections start in the first year of life

•

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

•

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

•

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

•

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

•

en:affected individuals have amnesia for events

•

en:affected males are all result of new mutation

•

en:no family history, de novo mutations

•

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

•

en:obligate female carriers may show mild signs of muscle weakness, especially of the face

•

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

•

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

•

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

•

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

•

en:onset in mid-forties

•

en:onset in newborns or infants

•

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

•

en:onset of symptoms 2-12 months

•

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

•

en:reported in 1 family (last curated may 2013)

•

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

•

en:no consistent disease phenotype

•

en:affected females may have increased spontaneous abortions

•

en:increased frequency among french-canadians from the charlevoix-saguenay-lac saint jean area of quebec (carrier rate 1 in 26)

•

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

•

en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900)

•

en:first fracture in early childhood

•

en:females have milder manifestations than males

•

en:estimated incidence of 1-2 in 10,000

•

en:early death (in some patients)

•

en:death in infancy in 2 patients

•

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

•

en:asymptomatic patients may show changes on sd-oct

•

en:associated with advanced paternal age

•

en:aggressive malignancies

•

en:adult onset (third decade)

•

en:accounts for 1-2% of lymphomas in adults

•

en:some patients never achieve sitting

•

en:seizures tend to remit later in childhood

•

en:fifty percent of cases secondary to new mutations

•

en:sudden infant death may occur

•

en:more frequent in males

•

en:three type of cystinosis are recognized - infantile nephropathic (219800), juvenile or adolescent nephropathic (219900), and adult nonnephropathic (219750)

•

en:syncope

•

en:prevalence of 1 in 40,000 among caucasians

•

en:prevalence of 1 in 100,000

•

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

•

en:patients often nonambulatory by the mid-twenties

•

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

•

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

•

en:onset in first hours to days of life

•

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

•

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

•

en:normal growth and development after 1 year of age

•

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

•

en:increased frequency in ashkenazi jewish population

•

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

•

en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes

•

en:variable age at onset from childhood to adulthood

•

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

•

en:affected males are somatic mosaic for mutations

•

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

•

en:amelioration with age

•

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

•

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

•

en:gonadal and somatic mosaicism reported in parent

•

en:death usually in infancy or early childhood

•

en:early death in the first few weeks of life

•

en:genetic heterogeneity (see ppr2, 609572 and ppr3, 609573)

•

en:death at 20 to 40 years

•

en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015)

•

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

•

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

•

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

•

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

•

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

•

en:abnormal morphogenesis of first and second branchial arches

•

en:based on 3 patients from 2 families (last curated january 2015)

•

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

•

en:distinct disorder from reduced zinc in breast milk (608118)

•

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

•

en:existence as a distinct entity is not confirmed

•

en:onset usually in early childhood

•

en:onset in second and third decades of life

•

en:onset between ages 10 and 25 years

•

en:normal development before onset of seizures

•

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

•

en:majority of cases have been sporadic

•

en:genetic heterogeneity for phenotypically similar disorders with specific language impairment (sli1 606711, sli2 606712, sli3 607134)

•

en:facial palsy often transient in infancy

•

en:death usually in first year of life

•

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

•

en:age at onset ranges from first to sixth decade

•

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

•

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

•

en:features are highly variable

•

en:genetic heterogeneity (see psnp2 609454)

•

en:female carriers may have cardiac defects

•

en:poor response to the c5 inhibitor eculizumab

•

en:type iii is intermediate form

•

en:spontaneous improvement or resolution of skin creases in childhood

•

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

•

en:some patients do not develop renal failure

•

en:skin changes are progressive in childhood

•

en:reduced penetrance has been reported

•

en:progressive disorder regarding both neurologic and renal symptoms

•

en:prenatal onset or onset in infancy

•

en:preferably treated with iodine supplementation rather than thyroid hormone replacement

•

en:responsive to treatment

•

en:onset usually at birth

•

en:mean age at onset 30.7 years (range 6 to 60 years)

•

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

•

en:high incidence in iraqis and sephardic jewish individuals

•

en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination

•

en:initially normal rod responses may become significantly reduced at older age

•

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

•

en:hearing loss may be stable or progressive

•

en:mean age at onset of dementia is 57 years

•

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

•

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

•

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

•

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

•

en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes

•

en:onset typically in childhood although onset in late adolescence or early adulthood has been reported

•

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

•

en:sudden death due to cardiac arrhythmia may occur

•

en:sudden death in affected females occurs in the forties

•

en:symptoms tend to improve with age

•

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

•

en:two loci described - eec1 (129900) and eec3 (604292)

•

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

•

en:onset of hyperuricemia or gout in young adulthood

•

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

•

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

•

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

•

en:onset of skin lesions at birth

•

en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:onset by 3 years of age

•

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

•

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

•

en:high incidence among old order amish

•

en:group c is relatively benign

•

en:early death without kidney transplant

•

en:death in first weeks of life

•

en:autosomal recessive inheritance has been reported

•

en:allelic to tyrosinemia, type iii (276720)

•

en:allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, 211600)

•

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

•

en:2-locus model fits simultaneous autosomal recessive gene and mitochondrial gene mutation

•

en:autonomic symptoms occur with headaches

•

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

•

en:based on 2 reported patients, 1 male and 1 female (last curated august 2013)

•

en:often refractory to medical therapy

•

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

•

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

•

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

•

en:onset usually associated with febrile illness

•

en:onset of proteinuria in the second to fourth decades

•

en:onset of gait abnormalities at 8 to 40 years

•

en:onset of bone disease in second decade (range 18-44 years)

•

en:onset in childhood or as young adult

•

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

•

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

•

en:one family reported (as of november 2011)

•

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

•

en:surviving males are postzygotic mosaic for ebp mutations

•

en:no laterality defects

•

en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964)

•

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

•

en:codominant inheritance has been suggested

•

en:contractures most severe by midadolescence

•

en:earlier onset may occur

•

en:end-stage renal failure may occur

•

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

•

en:frequently fatal within the first year of life

•

en:genetic heterogeneity (see cmt2a 118210)

•

en:genetic heterogeneity (see hcfp2, 604185)

•

en:incidence of 1 in 3,500 boys

•

en:generally considered to be a benign disorder

•

en:majority of patients are pyridoxine-responsive

•

en:onset of clinical features around puberty

•

en:most become wheelchair-bound late in life

•

en:one 5-generation chinese family reported (last curated november 2014)

•

en:onset in childhood (5 to 10 years)

•

en:onset in childhood or early adolescence

•

en:phenotypic similarities to costello syndrome (218040)

•

en:opportunistic infections

•

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

•

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

•

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

•

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

•

en:may be benign condition

•

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

•

en:increased frequency among jewish iranian individuals from isfahan

•

en:inborn error of the pyrimidine degradation pathway

•

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

•

en:following fever in infancy, muscular weakness and poor growth

•

en:favorable response to rituxan (in some patients)

•

en:favorable response to immunotherapy

•

en:death in infancy secondary to pulmonary insufficiency

•

en:cold temeratures exacerbate symptoms

•

en:associated with increasing age

•

en:age at diagnosis 9 +/- 6 years

•

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

•

en:14% of patients survive with polyhydramnios

•

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

•

en:some patients can attend special school

•

en:increased susceptibility to malignant hyperthermia

•

en:variable age at onset (range 2 to 59 years, mean 24 years)

•

en:no phenotypic manifestations

•

en:variable age at onset, infancy to adulthood

•

en:type 1 - associated with osteogenesis imperfecta (125490)

•

en:two sibs have been reported (last curated october 2014)

•

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

•

en:sudden death due to cardiomyopathy

•

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

•

en:some patients do not have bone disease

•

en:seizures usually remit spontaneously by 12 months of age

•

en:phenotypically indistinguishable from hemophilia a (306700)

•

en:patients with contiguous gene deletion of 8q24 have more severe features

•

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

•

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

•

en:usually occurs in young adulthood

•

en:may be lethal in infancy if untreated

•

en:attacks typically last for minutes

•

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

•

en:21% of hereditary wilms tumor are bilateral

•

en:adult onset (range 15 to 53 years)

•

en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622)

•

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

•

en:a milder form has also been reported

•

en:cyp2d6 enzyme is located in the endoplasmic reticulum of the liver

•

en:death usually within first 2 years of life

•

en:episodes typically last 2 to 5 minutes and occur daily or several times per month

•

en:extreme variability in severity of features

•

en:genetic heterogeneity (see 609192)

•

en:variable penetrance

•

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

•

en:onset of disease within the first year of life

•

en:onset of joint contractures later in life

•

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

•

en:onset of proteinuria in the third to fourth decades

•

en:variable number of nails involved

•

en:prevalent among patients of asian descent, particularly japanese

•

en:progressive disorder that may become stable in young adulthood

•

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

•

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

•

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

•

en:onset beyond the second year of life

•

en:onset in teens or early twenties

•

en:early-onset severe renal disease

•

en:most patients have de novo mutations

•

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

•

en:incidence of 1 in 40,000 infants worldwide

•

en:genetic heterogeneity (see, e.g., 600795, 105550)

•

en:flares triggered by viral infection, overexertion, stress

•

en:females are more often affected

•

en:de novo mutation in some cases

•

en:congenital or early onset hearing loss

•

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

•

en:all reported patients are female

•

en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570)

•

en:affected boys in 3 unrelated families have been reported, consistent with x-linked recessive inheritance (last curated september, 2015)

•

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

•

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

•

en:incompletely penetrant phenotype in heterozygotes

•

en:autosomal recessive inheritance can occur

•

en:onset of joint pain in childhood

•

en:death in utero (30%)

•

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

•

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

•

en:two brothers in a french family have been reported (last curated march 2015)

•

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

•

en:sudden infantile death may occur

•

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

•

en:prevalence in sardinia is 1 in 14,000

•

en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200)

•

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

•

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

•

en:partial factor viii deficiency in heterozygous carriers

•

en:visual acuity varies considerably, depending on the presence of secondary defects such as retinal exudates or detachment

•

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

•

en:highly variable expressivity within families

•

en:disease complicated by recurrent sepsis in some patients

•

en:onset in childhood (range 2 to 16 years)

•

en:females may be unaffected or mildly affected

•

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

•

en:genetic heterogeneity (see 601680)

•

en:episodes are triggered by hunger, fatigue, cold, stress

•

en:majority of cases have bilateral involvement

•

en:more frequent in females

•

en:not all patients have dysmorphic facial features

•

en:oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene

•

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

•

en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001)

•

en:two thirds of patients are female

•

en:usually favorable response to treatment

•

en:usually a sporadic disorder

•

en:usually asymptomatic

•

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

•

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

•

en:variable age at onset (childhood to adulthood)

•

en:variable age at onset, ranging from childhood to adult

•

en:variable clinical phenotype

•

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

•

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

•

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

•

en:variable age of onset (6 to 35 years)

•

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

•

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

•

en:variable phenotype, some patients have very mild symptoms

•

en:variable phenotype depending on residual enzyme activity

•

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

•

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

•

en:variant at may present with dystonia only

•

en:very slow progression

•

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

•

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

•

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

•

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

•

en:symptoms relieved by ovarian suppression

•

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

•

en:symptoms are often responsive to alcohol

•

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

•

en:some patients show delayed development from birth

•

en:some patients survive infancy

•

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

•

en:some people with a cnnm2 mutation are asymptomatic

•

en:some phenotypic overlap with rett syndrome (312750)

•

en:spasticity is slowly progressive

•

en:spontaneously resolves by 5 to 6 months of age

•

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

•

en:stillbirth

•

en:subclavian artery supply disruption in embryogenesis has been suggested as etiology

•

en:subtle facial phenotype compared to other types of hpe

•

en:sudden cardiac death in some families

•

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

•

en:symptoms begin focally, later segmental or generalized

•

en:two main phenotypes, early-onset with neurologic defects and early-adult onset with gout

•

en:symptoms improve following sleep

•

en:symptoms induced by strenuous exercise

•

en:symptoms usually occur in adults

•

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

•

en:the lower the s-ado:saicar ratio, the more severe the phenotype

•

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

•

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

•

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

•

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

•

en:two clinical presentations - solely neurologic form and a neurologic-multivisceral form

•

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

•

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

•

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

•

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

•

en:based on detailed clinical description of 1 family

•

en:allelic disorder to rippling muscle disease (rmd, 606072)

•

en:allelic to adult syndrome (103285), shfm4 (605289), hay-wells syndrome (106260), and limb-mammary syndrome (603543)

•

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

•

en:ambulation is usually maintained during adulthood

•

en:approximately 45% of sma1 patients also are missing both homologs of neuronal apoptosis inhibitory protein (naip, 600355), which may play a role in modifying disease severity

•

en:some patients do not achieve independent ambulation

•

en:asymptomatic if papillary zone is spared

•

en:asymptomatic skin lesions begin on neck in third decade of life

•

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

•

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

•

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

•

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

•

en:basal cell neoplasms develop after second decade

•

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

•

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

•

en:based on one report of a 4-generation family with 4 affected males and 6 affected females

•

en:based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014)

•

en:based on report of 2 unrelated patients (last curated february 2016)

•

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

•

en:benign trait

•

en:broad-based gait

•

en:carcinomas tend to develop in mid or late adulthood

•

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 in finland 1/40

•

en:cataracts present at birth or develop in infancy

•

en:changes more marked in hands than feet

•

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

•

en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis

•

en:allelic disorder to rett syndrome (312750)

•

en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353)

•

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

•

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

•

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

•

en:service comment 63: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:blood glucose monitor with integrated lancing/blood sample

•

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

•

en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide

•

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

•

en:2-3% due to imprinting defects

•

en:2 patients described

•

en:75% of affected individuals are female

•

en:abnormal transferrin pattern tends to improve with age

•

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

•

en:absence of premature birth, low birthweight, and exposure to oxygen

•

en:adult form is asymptomatic

•

en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500)

•

en:adult onset (20 to 40 years)

•

en:adult onset (37 to 57 years)

•

en:adult onset (thirties to forties)

•

en:adult onset may occur

•

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

•

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

•

en:age of onset/diagnosis 12-35 years

•

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

•

en:age of onset from 10 to 40 years

•

en:age of onset third decade

•

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

•

en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677)

•

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

•

en:allelic disorder to duane-radial ray syndrome (drrs, 607323)

•

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

•

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

•

en:some heterozygotes may have increased urinary excretion of cystine and may develop stones

•

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

•

en:onset - present at birth

•

en:onset 2-4 years of age in iia

•

en:onset 7 to 15 months of age

•

en:onset <30 months

•

en:onset after puberty

•

en:onset at birth or early infancy

•

en:onset between 28-32 weeks of gestation

•

en:onset between ages 16-55

•

en:onset in adolescence or young adulthood has been reported

•

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

•

en:onset in childhood (mean 6 years)

•

en:onset in childhood with exacerbation during puberty

•

en:onset in females ranges from third to seventh decade

•

en:onset in first decade of life

•

en:one patient with normal psychomotor development has been reported

•

en:onset in first month of life

•

en:onset in first weeks or months of life

•

en:onset in fourth to fifth decade

•

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

•

en:onset in late infancy

•

en:onset in mid to late childhood

•

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

•

en:onset in teenage years

•

en:onset in teens to 20's

•

en:onset in the second to fourth decades of life

•

en:onset in third to fifth decade of life

•

en:onset is usually in childhood or adolescence (2 to 18 years)

•

en:onset of ataxia in the fifties

•

en:onset of diabetes in neonatal period/ early infancy

•

en:one patient with severe congenital onset has been reported

•

en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015)

•

en:onset of fractures 4-18 months of life

•

en:neurologic features occur later in childhood

•

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

•

en:more common in women (90%)

•

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

•

en:most common subtype of frontotemporal dementia (600274)

•

en:most patients become wheelchair-bound

•

en:most patients do not learn to sit or walk

•

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

•

en:most patients have no bleeding abnormalities

•

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

•

en:most patients require renal transplantation

•

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

•

en:motor fluctuations

•

en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011)

•

en:neonatal death

•

en:neurologic involvement may occur in the absence of visceral involvement

•

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

•

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

•

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

•

en:no increased fragility of hair

•

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

•

en:one-third of cases are familial

•

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

•

en:one 9-generation family and 1 isolated patient described (last curated march 2014)

•

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

•

en:one family had normal cognitive and neurologic development

•

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

•

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

•

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

•

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

•

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

•

en:onset of disease after fourth decade of life

•

en:onset of hearing loss in first decade of life

•

en:some females are affected

•

en:seizures are responsive to pyridoxine treatment

•

en:prominent psychiatric symptoms

•

en:psychiatric symptoms may be the presenting sign

•

en:quinidine therapy may be effective

•

en:range of onset 11 to 50 years

•

en:rapidly progressive course

•

en:rapid disease progression

•

en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses

•

en:reduced penetrance (approximately 87%)

•

en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability

•

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

•

en:seizures remit in early childhood

•

en:progressive deafness

•

en:seizures remit spontaneously by age 5 years

•

en:seizure onset in first months or years of life

•

en:serum triglycerides decrease with age

•

en:severe epilepsy may lead to early death

•

en:severe infantile form presents before 6 months

•

en:severe involvement of legs

•

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

•

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

•

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

•

en:skin neoplasia may appear later in life

•

en:sleepwalking triggered by alcohol, sleep deprivation, stress

•

en:slightly increased female:male ratio (1.4:1 to 2:1)

•

en:some carrier females have mild features

•

en:some features are variably expressed

•

en:progressive disorder due to secondary myopathy

•

en:prevalent in arabic, turkish, armenian, and sephardic jewish populations

•

en:onset of lipodystrophy later in childhood

•

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

•

en:onset of malignancy can occur throughout life

•

en:onset of muscle weakness in fifth decade

•

en:onset of seizures before age 2 years

•

en:onset of visual loss in the first or second decades

•

en:onset ranges from childhood to adulthood

•

en:onset ranges from young adulthood to sixties

•

en:onset usually in childhood (range 17 months to 39 years)

•

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

•

en:onset usually in the first 4 years of life

•

en:onset within first 2 years of life

•

en:overlap with tourette syndrome (137580)

•

en:pain in lower limb

•

en:part of 'dent disease complex'

•

en:patients develop acute symptoms under physiologic stress due to illness

•

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

•

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

•

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

•

en:patients may present with recurrent illnesses or infections, or shock

•

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

•

en:patients present with groin pain

•

en:patients with homozygous mutations have a more severe disorder

•

en:patients with recessive mutations have a more severe phenotype

•

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

•

en:phenotypic overlap with cytochrome c oxidase deficiency (220110)

•

en:phenotypic overlap with frontotemporal dementia (600274)

•

en:possible genetic heterogeneity (linkage to xp22 in some families)

•

en:prelingual onset

•

en:prevalence 1-2% in northern european populations

•

en:prevalence in poland is 1 in 129,000

•

en:prevalence of 1 in 70,000

•

en:clinical variability, both pure and complicated forms

•

en:two main phenotypes, metabolic and neurologic

•

en:considered to be a manifestation of the caudal regression syndrome

•

en:present in infancy in all affected individuals

•

en:onset usually in first to third decade of life

•

en:onset within first 3 months of life

•

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:ossification occurs spontaneously during childhood

•

en:paternal anticipation bias

•

en:pathogenic alleles contain greater than 41 repeats

•

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

•

en:patients may have recurrent infections due to immunosuppressive therapy

•

en:patients may present with either renal or neurologic symptoms

•

en:patients may require implantable cardioverter defibrillators

•

en:patients need lifelong total parenteral nutrition

•

en:perinatal death

•

en:phenotypic overlap with parkinson disease

•

en:prevalence in norway is 1 in 80,000

•

en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype)

•

en:prevalence of 1 in 300,000 in quebec

•

en:prevalence rates average 10-20% of the general population over age 60

•

en:prevalent in ashkenazi jews

•

en:progressive skeletal dysplasia

•

en:pseudomembrane formation triggered by injury, infection, irritation, surgery

•

en:rarely reported in infants

•

en:rare disorder

•

en:recurrent acute episodes

•

en:relatively benign course after acute episodes in childhood

•

en:reticulate hyperpigmentation onset birth - 2 years

•

en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis

•

en:risk of death due to cardiac dysfunction

•

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

•

en:onset of symptoms less than one year

•

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

•

en:onset in 1st to 3rd decade of life

•

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

•

en:onset in childhood or teenage years (7 to 16 years)

•

en:onset in childhood or youth

•

en:onset in feet and legs (peroneal distribution)

•

en:onset in fourth decade

•

en:onset in infancy after weaning from being breast-fed

•

en:onset in infancy or early childhood

•

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

•

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

•

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

•

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

•

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

•

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

•

en:onset in young adulthood or adulthood

•

en:onset of symptoms in second or third decade (mean 25 years)

•

en:onset of choreoathetosis in childhood or young adult (6-23 years)

•

en:onset of chronic progressive polyneuropathy in late childhood

•

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

•

en:onset of fractures in infancy to early childhood

•

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 insulin resistance may occur in childhood

•

en:onset of lesions may occur in early childhood or as late as the seventh decade

•

en:onset of lymphedema before puberty

•

en:onset of major clinical features in young adulthood

•

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

•

en:onset of seizures in infancy

•

en:onset of spasticity by age 2 years

•

en:onset of symptoms in second decade of life

•

en:see also oca1a (203100)

•

en:onset at or soon after birth

•

en:variable age at onset (range infancy to 30 years)

•

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

•

en:type 3 - brandywine isolate opalescent dentin (125500)

•

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

•

en:ultrasound detection in second trimester of pregnancy

•

en:upper limb involvement occur later

•

en:urine turns dark on standing and alkalinization

•

en:usually poor response to steroid treatment

•

en:variable age at onset, range from infancy to adulthood

•

en:variable age at onset, ranging from childhood to late adulthood

•

en:variable age at onset (range 8 to 60 years, mean 32)

•

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

•

en:variable age at onset of seizures

•

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

•

en:variable age at onset of symptoms, ranging from the second to seventh decades of life

•

en:variable age of onset

•

en:variable age of onset (childhood to adulthood)

•

en:variable clinical presentation that may change with age

•

en:variable duration (minutes to hours)

•

en:variable progression rate

•

en:variable severity, intrafamilial

•

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

•

en:vhl type 2a - hemangioblastoma and pheochromocytoma

•

en:waddling gait

•

en:wheelchair-bound after 2 decades of disease onset

•

en:wide range of severity between affected members of the same family

•

en:women are more often affected

•

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

•

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

•

en:some patients show a favorable response to sulfonylurea treatment

•

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

•

en:seizures are refractory to treatment

•

en:seizures usually occur in the first months of life

•

en:severe clinical course

•

en:severe disorder

•

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

•

en:severe infections in untreated patients with neutropenia

•

en:slight increased risk for malignancy

•

en:some families have axonal cmt (cmt2m)

•

en:some patients have lethal fetal akinesia with death in utero

•

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

•

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

•

en:some patients show no bleeding abnormalities

•

en:two of 3 patients became wheelchair-bound

•

en:sparing of some nails in some individuals

•

en:spontaneous bleeding is rare

•

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

•

en:symptoms may decrease after age 30 years

•

en:symptoms occur only during sleep

•

en:symptoms typically begin in childhood

•

en:symptoms vary from asymptomatic patients to patients with metabolic acidosis

•

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

•

en:treatment with sulfonylurea can be effective

•

en:tremor may be elicited by movement or postural maintenance

•

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

•

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

•

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

•

en:onset before age 5 years

•

en:onset 8-20 years

•

en:contiguous gene deletion syndrome (in most patients)

•

en:heterozygotes may exhibit syndromic manifestations

•

en:favorable response to sodium chloride treatment

•

en:favorable response to treatment with cholinesterase inhibitors or amifampridine

•

en:fetal death may occur

•

en:five patients from 3 unrelated families have been reported (last curated september 2015)

•

en:five patients reported (as of march 2009)

•

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

•

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

•

en:genetic heterogeneity

•

en:genetic heterogeneity (see bfic2, 605751)

•

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

•

en:genetic heterogeneity (see ofc1, 119530)

•

en:good response to levodopa treatment

•

en:headache duration 4-72 hours

•

en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea

•

en:favorable response to corticosteroid treatment (1 family)

•

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

•

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

•

en:high frequency of levodopa-induced dyskinesias

•

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

•

en:hip joint replacement often necessary

•

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

•

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

•

en:improvement of abnormal muscle biopsy and cox deficiency

•

en:incidence 8/1,000 newborns

•

en:incidence of 1 in 39,000

•

en:incidence of 1 in 480 among old order amish

•

en:incidence of 1 in 50,000 to 1 in 100,000

•

en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy

•

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

•

en:favorable response to lenalidomide treatment

•

en:favorable response to alcohol in about 50%

•

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

•

en:disease is nonprogressive in most patients

•

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

•

en:death due to respiratory insufficiency within minutes to hours after birth

•

en:death in first months of life

•

en:death in infancy due to hyperthermia or apnea

•

en:death in the first months or years of life

•

en:death in untreated children

•

en:death may occur in early infancy

•

en:death within several months if untreated

•

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

•

en:described predominantly in families from the philippines

•

en:de novo mutation identified in some patients

•

en:diagnosis in early childhood

•

en:diarrhea persists even with vigorous nursing

•

en:digenic form caused by heterozygous mutations in both nek1 (604588) and dyn2ch1 (603297)

•

en:distinct from pili annulati (180600)

•

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

•

en:diurnal fluctuation of symptoms

•

en:dysmorphic features are variable

•

en:early adult onset has been reported

•

en:early death (mean age 13 months)

•

en:early death in patients with cloverleaf skull

•

en:early death often due to respiratory complications

•

en:electrolyte imbalances can mimic renal bartter syndrome (601678)

•

en:encephalopathic episodes associated with increased serum and csf lactate

•

en:episode, syncopal

•

en:episodes last from several hours to days

•

en:estimated frequency of 1 in 40,000 live births

•

en:exacerbated by stress

•

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

•

en:fat pads become less prominent with time

•

en:increased prevalence in the french-canadian population

•

en:increased susceptibility to neisseria infections

•

en:onset 50 to 65 years

•

en:no phenotype in heterozygotes

•

en:multisystem decompensation in response to viral infection

•

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

•

en:muscle weakness occurs only in the presence of hyperthyroidism

•

en:mutations occur de novo

•

en:neonatal or infant death

•

en:neurologic features occur in adulthood

•

en:neurologic signs may not be present

•

en:neurologic symptoms may develop decades later

•

en:nine patients have been reported in detail (as of 14 june 2011)

•

en:nonprogressive or very slowly progressive

•

en:nonsyndromic

•

en:normal cag repeat length is 7 to 32 triplets

•

en:no extraocular findings

•

en:nphp shows autosomal recessive inheritance

•

en:mps1 types are distinguished clinically by age of onset and progression or by mutation(s)

•

en:nyctalopia is a later feature of the disorder

•

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

•

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

•

en:one family and an unrelated patient have been reported (last curated january 2016)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:one patient with episodic ataxia and later onset has been reported (as of june 2010)

•

en:one patient with normal cognition has been reported

•

en:only apparent in patients taking eculizumab

•

en:multiple gene loci involved in causation of schizophrenia

•

en:motor impairment more significant than sensory impairment

•

en:intrafamilial variability in severity

•

en:marked heterogeneity

•

en:in most cases capillary lesions are multifocal at birth and may increase in number with age

•

en:juvenile myoclonic epilepsy (jme, 606904)

•

en:l-dopa-induced dyskinesias

•

en:lack of treatment results in early death

•

en:later onset in adolescence has rarely been reported

•

en:left side involvement associated with serious cardiac defect

•

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

•

en:loss of ambulation within 10 years of onset

•

en:lower limbs more severely affected

•

en:low physical performance

•

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

•

en:malnutrition can be severe, requiring total parenteral nutrition

•

en:many cases due to de novo mutation

•

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

•

en:most patients require liver transplant in childhood

•

en:may be seen with other forms of cancer in a family

•

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

•

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

•

en:mean age of diagnosis of renal cell carcinoma is 46 years

•

en:mean age of onset 50 to 52 years

•

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

•

en:mean survival 5 months

•

en:mecp2 mutations are those found in females with rett syndrome (312750)

•

en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys

•

en:midline defects

•

en:more severe in males than in females

•

en:most common inherited giant platelet disorder

•

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

•

en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia

•

en:more common in males

◀

Génériques

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en:deafness

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6945590 • caches: c1=76 c2=1653 c3=486

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