Le Diko - en:variable phenotype, particularly with regard to cortical malformations

Le Diko - en:variable phenotype, particularly with regard to cortical malformations

Javascript doit fonctionner ! Activez-le et rechargez cette page.

le dictionnaire d'associations lexicales
contributif et libre de JeuxDeMots

en:variable phenotype, particularly with regard to cortical malformations

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

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

•

en:female carriers may be less severely affected

•

en:presentation at 3-6 weeks of age

•

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

•

en:phenotypic overlap with desbuquois dysplasia (251450)

•

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

•

en:onset ranges from childhood to young adulthood

•

en:onset in teenage or young adult years

•

en:onset in fourth to sixth decades

•

en:most patients die in infancy features of pseudoxanthoma elasticum, an allelic disorder, have not yet been reported in gaci2 patients (the 4 surviving patients reported as of january 2012 are all age 5 years or less)

•

en:majority of patients are ambulatory

•

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

•

en:favorable response to spironolactone

•

en:seizure onset in first months or years of life

•

en:favorable response of episodic attacks to acetazolamide

•

en:earlier onset is rare

•

en:compound heterozygosity common

•

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

•

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

•

en:age of onset 6-10 years

•

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

•

en:adult onset (after age 35 years)

•

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

•

en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:prevalence of sleep terrors about 3% in children

•

en:intrafamilial variation

•

en:small placenta

•

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

•

en:two families described (last curated july 2013)

•

en:some heterozygous cpt2 mutation carriers may be symptomatic

•

en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia

•

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

•

en:relatively slow progression

•

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

•

en:one family with confirmed genetic basis has been reported (last curated september 2013)

•

en:most patients die in early childhood

•

en:minimum duplication includes bhlha9 (615416)

•

en:mild to severe forms of disease

•

en:may be benign condition

•

en:three main phenotypes

•

en:lethal in the neonatal period

•

en:death often secondary to infectious disease

•

en:juvenile form has onset between 4 and 19 years

•

en:allelic to myosin storage myopathy (608358)

•

en:autosomal recessive inheritance has been reported in 1 family

•

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

•

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

•

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

•

en:favorable response to ursodeoxycholic acid treatment

•

en:fifty percent of cases secondary to new mutations

•

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

•

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

•

en:onset in teens to 20's

•

en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014)

•

en:neurologic symptoms are progressive

•

en:majority of children die between 6 months and 5 yrs

•

en:majority of cases in the afrikaner population of south africa

•

en:paternal anticipation bias

•

en:later onset with a milder phenotype may also occur

•

en:high early mortality rate if untreated

•

en:highly variable phenotype with regard to pigmentation

•

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

•

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

•

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

•

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

•

en:all reported cases have occurred sporadically

•

en:allelic to metaphyseal dysplasia without hypotrichosis (250460)

•

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

•

en:age of onset usually 1 week to 2 years

•

en:age at onset in males ranges from 3 to 7 years

•

en:absence seizures show onset between 3.5 and 4 years

•

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

•

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

•

en:prevalent in ashkenazi jews

•

en:patients may present with either renal or neurologic symptoms

•

en:chronic course with exacerbations and remissions

•

en:see also autosomal recessive familial mediterranean fever (fmf, 249100)

•

en:favorable response to bh4

•

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

•

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

•

en:onset birth to early infancy

•

en:one patient described (last curated december 2013)

•

en:nphp shows autosomal recessive inheritance

•

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

•

en:mean age of death is 34 years

•

en:incidence of 1 in 480 among old order amish

•

en:genetic heterogeneity, see ppnad2 (610475)

•

en:favorable response to l-dopa without side effects

•

en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia

•

en:excessive postsurgical blood loss

•

en:variable age of onset of renal manifestations

•

en:z allele most common, only in caucasians

•

en:survival to advanced age

•

en:symptoms benefit from sleep

•

en:variable age at onset, early childhood to adult

•

en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders

•

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

•

en:blood glucose monitor with integrated voice synthesizer

•

en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec

•

en:death occurs in second or third decade

•

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

•

en:normal alleles contain 15 to 50 repeats

•

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

•

en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists

•

en:some patients are clinically unaffected.

•

en:reported cases all sporadic

•

en:rare spontaneous improvement occurs (8%)

•

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

•

en:onset of disease around 10 years of age

•

en:one swiss family with 19 affected individuals has been described (last curated february 2014)

•

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

•

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

•

en:high incidence of diabetes mellitus noted in opll patients

•

en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets

•

en:few patients with mild to moderate mental retardation

•

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

•

en:clonidine can alleviate hyperhidrosis

•

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

•

en:autosomal recessive inheritance has been reported in 1 case

•

en:adults may lose ability to walk

•

en:absence seizures usually remit by puberty

•

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

•

en:two different phenotypes exist - severe phenotype (early infantile onset, epileptic encephalopathy and often cardiomyopathy) and mild phenotype (more variable clinical presentation)

•

en:adult onset (thirties to forties)

•

en:onset age 14-28 years

•

en:atypical affected males, 'cardiac variants' 301500.0005 exist

•

en:usually fatal by age 5 years

•

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

•

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

•

en:progresses to involve upper limbs

•

en:onset usually in first month of life

•

en:onset of cataracts in late adolescence

•

en:onset before age 20

•

en:onset at age 36 years

•

en:patients of brazilian origin have a pure cerebellar atrophy

•

en:no opportunistic infections

•

en:favorable response to high-dose steroids

•

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

•

en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe

•

en:death due to rapidly progressive pulmonary fibrosis in infancy

•

en:earlier onset is associated with a more severe disorder

•

en:early death occurs in affected infants (days to months after disease onset)

•

en:highly variable phenotype, some adults may be asymptomatic

•

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

•

en:incidence of 1 in 57,000

•

en:multiple prenatal fractures

•

en:phenotypically mild form of joubert syndrome

•

en:some patients may have residual muscle weakness

•

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

•

en:see also autosomal form, 146450, and another x-linked form, 300758

•

en:see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation

•

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

•

en:figure associated with report or note:-:point in time:^patient:-

•

en:treatment with levodopa is not effective

•

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

•

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

•

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

•

en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:onset of linear striations between 5 months and 6 years (only in affected females)

•

en:other half show head circumference more retarded than height

•

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

•

en:onset in infancy or childhood (range 1 to 13 years)

•

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

•

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

•

en:onset in childhood, adolescence, and adulthood

•

en:most patients die in childhood

•

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

•

en:many patients require cardiac pacemakers

•

en:manifestations of cushing syndrome may be mild

•

en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age

•

en:dysmorphic features are mild or variable

•

en:described in single afrikaner family

•

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

•

en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:nutritional risk index:arbitrary concentration:point in time:^patient:quantitative

•

en:allelic disorder to juvenile nephronophthisis-1 (256100)

•

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

•

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

•

en:both homozygous and heterozygous ednrb mutations have been found

•

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

•

en:caused by heterozygous germline mutation and second-hit somatic mutation

•

en:three patients in one family have been reported (as of october 2011), and only one mutation carrier exhibited mental retardation and ataxia

•

en:relatively benign course

•

en:reduced fertility

•

en:recurrence is possible

•

en:prevalence of 1 in 40,000

•

en:pneumocytosis carinii infection (12 to 42%)

•

en:partial factor viii deficiency in heterozygous carriers

•

en:onset of seizures before age 2 years

•

en:onset of progressive spastic paraplegia in childhood

•

en:onset of lymphedema before puberty

•

en:onset of dysmorphic features and developmental delay in infancy

•

en:onset of chronic progressive polyneuropathy in late childhood

•

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

•

en:slight male predominance (3:2)

•

en:mean age at onset of muscle disease is 42 years (range 24-61)

•

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

•

en:caused by inborn error in bile acid synthesis

•

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

•

en:dystonia and seizures may persist after resolution of episodes

•

en:genetic heterogeneity (sli2 606712, sli3 607134)

•

en:gonadal mosaicism reported

•

en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia

•

en:hip joint replacement often necessary

•

en:males are more commonly affected than females

•

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

•

en:loss of ambulation within 10 years of onset

•

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

•

en:marked clinical heterogeneity

•

en:incidence of 0.51 per million in france

•

en:onset of gastrointestinal tumors typically occurs in the second decade

•

en:onset second decade of life

•

en:ophthalmologic signs onset in first to sixth decade

•

en:pathogenic alleles contain 71 to 1,300 repeats

•

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

•

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

•

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

•

en:seizures are usually refractory

•

en:some patients have a crouzon-like appearance

•

en:survival to 20 years in severe form

•

en:onset 5 to 7 years

•

en:tumor suppressor gene

•

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

•

en:juvenile and adult forms are isolated glycerol kinase deficiency

•

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

•

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

•

en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous)

•

en:mortality approximately 20% in first 2 years

•

en:mean age of onset, 5 years

•

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

•

en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl

•

en:female to male ratio, 1:1

•

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

•

en:both heterozygous and homozygous mutations have been reported

•

en:approximately half of the mutations are de novo

•

en:1 in 19,000 in japan

•

en:worsening of symptoms during sleep

•

en:variable age at onset (birth to adolescence)

•

en:nonprogressive or slowly progressive

•

en:allelic disorder to stickler syndrome 3 (184840)

•

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

•

en:ataxia becomes evident at the end of the first year of life

•

en:variable features present

•

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

•

en:usually presents in third to fourth decade (but onset can range from childhood to elderly)

•

en:see also antenatal bartter syndrome type 1 (601678), bartter syndrome type 2 (241200), bartter syndrome 3 (607364), and bartter syndrome 4b digenic (613090)

•

en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021)

•

en:reticulate hyperpigmentation onset birth - 2 years

•

en:responsive to oral mannose therapy

•

en:patients become wheelchair-bound in second decade

•

en:onset in the perinatal period

•

en:most cases sporadic

•

en:may be same entity as griscelli syndrome type i (214450) caused by mutation in the myosin va gene (160777)

•

en:symptoms noted at 2-3 years

•

en:may be induced by fever or hot bath

•

en:features intermediate between demyelinating cmt and axonal cmt

•

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:diabetes and anemia respond to high doses of thiamine supplementation

•

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

•

en:death in infancy, usually from sepsis, dehydration, or acidosis

•

en:enterocolitis tends to remit with age

•

en:distinct disorder from galactosemia (230400)

•

en:females may be unaffected or mildly affected

•

en:fractures often heal without deformity

•

en:hhs is a more severe variant, often resulting in death in childhood

•

en:increased risk of early death

•

•

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

•

en:marked clinical variability within families

•

en:spontaneous tumor regression may occur

•

en:phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection

•

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

•

en:onset between 6 and 14 years

•

en:onset ages 2 to 14 years

•

en:most patients die in first years of life

•

en:may result in death in neonatal period or early childhood

•

en:may occur cormorbidly with poland syndrome (173800)

•

en:adult onset after puberty

•

en:levodopa-induced dyskinesias

•

en:joint dislocations become less frequent with age

•

en:heterozygous mutation carriers may show mild symptoms

•

en:distinct disorder from familial limb-girdle myasthenia (254200)

•

en:death occurs 10 to 20 years after onset

•

en:age of onset 30 to 60 years

•

en:blood glucose monitor with integrated lancing/blood sample

•

en:service comment 77:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:diabetes status:prid:pt:^patient:nom

•

en:usually clinically asymptomatic

•

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

•

en:acute episodes decrease with age and disappear

•

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

•

en:in contrast to other forms of progeria, these patients do not have atherosclerosis, cardiac ischemia, or metabolic abnormalities

•

en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:very variable phenotype, with some patients having many features and others only a few

•

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

•

en:three males in 1 family have been reported (last curated august 2012)

•

en:see also cmtx1 (302800) and cmt3x (302802)

•

en:phenotypic variation in severity and symptoms

•

en:onset in first 6 months of life

•

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

•

en:majority of patients from italy and southwestern united states

•

en:pain is relieved by antiinflammatory medication

•

en:infants may have acute life-threatening crises

•

en:incomplete penetrance in carrier females

•

en:high incidence in sweden and finland

•

en:disease exacerbation during summer due to heat

•

en:death before age 40

•

en:breech presentation

•

en:ambulation is usually maintained during adulthood

•

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

•

en:individuals with the pcs trait are phenotypically normal

•

en:allelic disorder to adult polyglucosan body disease (263570)

•

en:reported in individuals of amish or mennonite descent

•

en:onset usually in early childhood, although ranges from birth to adulthood

•

en:oral contraceptives may also cause symptoms

•

en:overlap with tourette syndrome (137580)

•

en:usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci

•

en:see 608358 for an autosomal dominant form

•

en:some features are variable

•

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

•

en:thiamine supplementation may be beneficial

•

en:onset in adulthood (third to fourth decade)

•

en:onset in the first hours or days of life

•

en:adult onset (40 to 60 years old)

•

en:onset before age 3 years

•

en:neurologic dysfunction is infrequent and associated with delayed diagnosis

•

en:narcolepsy and deafness are the first symptoms

•

en:immunodeficiency is progressive

•

en:favorable response to anticholinesterase medication

•

en:early death without bone marrow transplantation

•

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

•

en:death secondary to respiratory infection or failure

•

en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000

•

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

•

en:service comment 70:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

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

•

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

•

en:may coexist with autoimmune vitiligo or thyroiditis

•

en:some patients may have a milder phenotype

•

en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972)

•

en:some features are variably present

•

en:resembles intrauterine torch infection but without intrauterine infection

•

en:prevalent among patients of asian descent, particularly japanese

•

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

•

en:one family had normal cognitive and neurologic development

•

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

•

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

•

en:most cases occur de novo

•

en:premature death may occur

•

en:male-to-female ratio 3 to 1

•

en:epilepsy with grand mal seizures on awakening (egma, 607628)

•

en:leopard is an acronym: lentigines, ekg abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness

•

en:bimodal age of onset

•

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

•

en:earlier onset is associated with more rapid progression

•

en:existence as a distinct entity is not confirmed

•

en:expression more severe in females than males, except for mosaic males

•

en:increased prevalence in individuals of jewish-iraqi origin

•

en:individuals do not develop erythrocytosis under hypoxic conditions

•

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

•

en:onset in the neonatal period (0-38 days)

•

en:onset in the first or second decades of life

•

en:onset before 18 months of age

•

en:onset in males in first to third decade

•

en:onset in late teens to twenties

•

en:onset in infancy (1-2 years)

•

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

•

en:onset between ages 16-55

•

en:onset in childhood (ages 1.5 to 7 years)

•

en:onset by 1 year of age

•

en:onset birth to early childhood

•

en:onset between the second and sixth decades

•

en:onset between 5 to 28 years of age

•

en:onset between 34 and 51 years of age

•

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

•

en:onset in third or fourth decades

•

en:onset in the second or third decade of life

•

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

•

en:onset occurs earlier in males than females

•

en:onset usually at 2 to 6 months of age

•

en:onset within first 3 months of life

•

en:onset usually in the first decade (range 0.8 to 5 years)

•

en:onset usually in infancy or early childhood (9 months to 6 years)

•

en:onset usually in infancy

•

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

•

en:onset usually in childhood (1 to 9 years of age)

•

en:onset about 6 months of age after normal growth and development in the first few months of life

•

en:onset of fractures 4-18 months of life

•

en:onset of symptoms in second decade of life

•

en:onset of symptoms in early childhood

•

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

•

en:onset of lymphedema around puberty

•

en:onset of hypoglycemia and hyperinsulinism in the neonatal period

•

en:onset of hematologic or cns tumors in the first or second decades of life

•

en:onset of hearing loss in childhood

•

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

•

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

•

en:onset 50 to 65 years

•

en:most patients lose ambulation 2 years after onset

•

en:neonatal lethal due to respiratory insufficiency

•

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

•

en:multiple seizures daily at onset

•

en:movements worsened by anxiety

•

en:motor symptoms are variable

•

en:most patients require liver transplant in childhood

•

en:most patients have no bleeding abnormalities

•

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

•

en:most patients die within the first year of life

•

en:most patients are stillborn or die in immediate neonatal period

•

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

•

en:most common muscle disease of older persons

•

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

•

en:most cases result from a de novo mutation

•

en:most carrier females have mild mental retardation and subtle facial changes

•

en:neurologic symptoms may occur after trauma

•

en:normal alleles have 4 to 18 repeats

•

en:onset 3 months of age up to 5 years

•

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

•

en:onset 20-55 years of age

•

en:onset 14 months to 4 years of age

•

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

•

en:one patient has been reported (as of february 2012)

•

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

•

en:one patient (patient a) and 2 sibs have been reported (last curated february 2015)

•

en:one family reported (as of may 2012)

•

en:normal development between episodes

•

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

•

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

•

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

•

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

•

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

•

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

•

en:occurs in the absence of trauma

•

en:overlapping features of digeorge syndrome

•

en:present in infancy in all affected individuals

•

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

•

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

•

en:sudden infant death may occur

•

en:spontaneously resolves by 5 to 6 months of age

•

en:some patients may become bedridden 10 to 20 years after onset

•

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

•

en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa

•

en:some patients develop ophthalmoplegia in middle age

•

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

•

en:survivors may develop renal insufficiency and hepatic dysfunction

•

en:shields classification -

•

en:sex ratio - 2 females to 1 male

•

en:severity of hematologic disorder decreases with advancing age

•

en:severe involvement of legs

•

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

•

en:seventy percent of cases have associated anomalies

•

en:seizures may occur with illness

•

en:survival to 10 years

•

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

•

en:seizures last about 30 seconds to 3 minutes

•

en:thromboembolism is the most common cause of death

•

en:two subtypes - seminoma and nonseminoma

•

en:two pakistani families reported (last curated july 2014)

•

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

•

en:two families reported with 2 sibs each (last curated october 2012)

•

en:two families reported (last curated february 2013)

•

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

•

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

•

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

•

en:symptoms are responsive to cobalamin treatment

•

en:three types of cystinosis are recognized

•

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

•

en:three families have been reported (last curated november 2010)

•

en:temperature instability

•

en:symptom onset ranges from infancy to adulthood

•

en:symptoms vary according to location of tumor

•

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

•

en:seizures may be refractory

•

en:seizures are sensitive to hyperventilation

•

en:patients with later onset have better prognosis

•

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

•

en:progressive, with full manifestations at puberty

•

en:probably autosomal dominant with rare instances of affected sibs due to germinal mosaicism

•

en:prevalence of sleepwalking about 3% in adults

•

en:prevalence of 1 in 300,000 in quebec

•

en:prevalence of 1 in 240 zuni indians

•

en:prevalence in sardinia is 1 in 14,000

•

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

•

en:prenatal diagnosis available

•

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

•

en:postlingual onset

•

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

•

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

•

en:phenotypic similarities to noonan syndrome (163950)

•

en:phenotypic similarities to costello syndrome (218040)

•

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

•

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

•

en:range of onset 11 to 50 years

•

en:rarely produces clinical jaundice

•

en:seizures are refractory to treatment

•

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

•

en:seizures are poorly responsive to treatment

•

en:seizures are followed by drowsiness in most cases

•

en:see also simplex eb with pyloric atresia (612138)

•

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

•

en:see also french-canadian type of leigh syndrome (220111)

•

en:see also chromosome 2q32-q33 deletion syndrome (612313)

•

en:see also cblc (277400)

•

en:see also autosomal recessive form (612304)

•

en:recessive inheritance has been reported

•

en:see also autosomal dominant hypophosphatemic rickets (193100)

•

en:risk of thromboembolic stroke

•

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

•

en:responsive to thiazide diuretics

•

en:response to benadryl (diphenhydramine)

•

en:relatives with multiple small congenital pigmented nevi

•

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

•

en:more frequent in females

•

en:majority of wilms tumors are sporadic

•

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

•

en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures

•

en:clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' (611369)

•

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

•

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

•

en:children rarely develop the disorder

•

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

•

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

•

en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480)

•

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

•

en:cardiac involvement occurs between 5 and 12 years

•

en:begins in hands or feet, later generalized

•

en:begins as focal dystonia, later becomes segmental or generalized

•

en:based on report of one consanguineous kuwaiti family (last curated december 2014)

•

en:based on four patients in a four generation family

•

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

•

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

•

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

•

en:condition is experienced by patients as harmless and is often discovered incidentally

•

en:aura may occur

•

en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322)

•

en:early childhood onset (before age 5 years)

•

en:dysmorphic features were only reported in 1 patient

•

en:diurnal fluctuation, more apparent in earlier years, later subsides

•

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

•

en:disease is life-threatening if untreated

•

en:die at birth or shortly after birth

•

en:diabetes mellitus develops in adolescence

•

en:decreased life expectancy

•

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

•

en:death usually in the first 2 years of life

•

en:death usually in sixth decade

•

en:death often occurs in the first decade

•

en:death in childhood

•

en:death by age 2 years

•

en:death between 2 years of age and young adulthood

•

en:death at 13 to 30 years

•

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

•

en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later

•

en:early death due to infection

•

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

•

•

en:acute attacks lasting 24-48 hours

•

en:accounts for 5-15% of childhood epilepsies

•

en:10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age

•

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

•

en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:age-related clinical course

•

en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 01:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative

•

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

•

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

•

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

•

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

•

en:adult onset (wide range of age)

•

en:age of onset of distal lower limb weakness 8-16 years

•

en:ataxia is nonprogressive

•

en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850)

•

en:asymptomatic carriers of a pericentric chromosome 8 inversion, inv(8), have a 6.2% risk of having an affected child with an unbalanced recombinant chromosome 8, rec(8).

•

en:approximately 60% of brrs patients have pten mutations

•

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:approximately 40% of cases are inherited or new germline mutations

•

en:alopecia usually occurs around puberty

•

en:allelic with smith-mccort dysplasia (607326)

•

en:allelic to pseudoachondroplasia (177170)

•

en:allelic to mucolipidosis ii (252500)

•

en:age of onset ranges from neonate to adulthood

•

en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142)

•

en:allelic to grebe syndrome (200700), brachydactyly type c (113100), and acromesomelic dysplasia, hunter-thompson type (201250)

•

en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900)

•

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

•

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

•

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

•

en:age of onset within the first years of life

•

en:early death (mean age 13 months)

•

en:early onset (1 month to 4 years)

•

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

•

en:incidence in united states of 1 in 55,000

•

en:increased risk of developing multiple primary cancers

•

en:increased morbidity/mortality in affected males

•

en:incomplete penetrance in females

•

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

•

en:incidence of 1 in 40,000 infants worldwide

•

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

•

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

•

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

•

en:hyponatremia usually associated with gastroenteritis

•

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

•

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

•

en:high frequency in hutterite population

•

en:highly variable pathologic phenotype

•

en:highest incidence in men of european descent

•

en:heterozygous females may have gout and/or sensorineural deafness

•

en:individuals develop ability to stand and walk

•

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

•

en:hearing loss typically begins between 3 and 4 years of age

•

en:maternal anticipation bias

•

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

•

en:median age at onset 23 years

•

en:mean age of onset 50 to 52 years

•

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

•

en:mean age at onset 15.2 years

•

en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600))

•

en:maternal oligohydramnios

•

en:many cases due to de novo mutation

•

en:in the absence of hydrops, death occurs within 3 months

•

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

•

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

•

en:majority of cases are sporadic, often in tall, thin men

•

en:loss of tumor suppressor gene

•

en:lesions continue to grow until epiphyseal plate closure

•

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

•

en:late-adult onset has been reported

•

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

•

en:hair loss begins in first years of life

•

en:end-stage renal failure may occur

•

en:features based on one australian/uk family with tmem98 mutation (last curated august 2014)

•

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

•

en:female carriers may have mild hearing impairment

•

en:female carriers may have cardiac defects

•

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

•

en:feeding difficulties, including aspiration, ameliorate with age

•

en:features may be bilateral (15/24) or left side (9/24)

•

en:favorable response to oral bile acid therapy

•

en:fluoxetine therapy is effective

•

en:favorable response to corticosteroid treatment (1 family)

•

en:favorable response to alcohol in about 50%

•

en:estimated frequency 1.6 cases/10,000 live births

•

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

•

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

•

en:episodes are followed by exhaustion and sleep

•

en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration

•

en:flares triggered by viral infection, overexertion, stress

•

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

•

en:global developmental delay

•

en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes)

•

en:genetic heterogeneity (see rmd1, 600332)

•

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

•

en:genetic heterogeneity (see cnc2, 605244)

•

en:genetic heterogeneity (see cmt4b2, 604563)

•

en:genetic heterogeneity (see cftd1, 255310)

•

en:genetic heterogeneity (see bafme2, 607876)

•

en:genetic heterogeneity (see 159900)

•

en:genetic heterogeneity, see spg5a (270800)

•

en:four clinical forms of krabbe disease

•

en:genetic heterogeneity, see ekd1 (128200)

•

en:generally benign disorder

•

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

•

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

•

en:four unrelated patients with zswim6 mutations have been described (last curated september 2014)

•

en:four patients reported (last curated april 2013)

•

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

•

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

•

en:neonatal onset

•

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

•

en:onset of encephalopathy between ages 2 and 3 years

•

en:onset of symptoms in fifth decade

•

en:onset of sensory neuropathy in later adulthood

•

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

•

en:onset of neurologic disease in early adulthood

•

en:onset of mental impairment in early childhood

•

en:onset of hearing loss in adolescence

•

en:onset of disease before 7 years of age

•

en:onset usually in second decade

•

en:onset of deafness in early childhood

•

en:onset of abnormal eye movements in early childhood

•

en:onset in lower limbs

•

en:onset in late twenties

•

en:onset in infancy after weaning

•

en:onset in infancy (first year of life)

•

en:onset in fourth and fifth decades

•

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

•

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

•

en:onset between 5 and 20 years

•

en:patients need lifelong total parenteral nutrition

•

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

•

en:phenotypically indistinguishable from hemophilia a (306700)

•

en:phenotype may or may not be consistent within a family.

•

en:perinatal lethality

•

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

•

en:patients who acquire ability to walk may lose it

•

en:patients usually require total thyroidectomy

•

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

•

en:onset usually in the neck

•

en:patients may have seizures only, dyskinesia only, or both

•

en:patients gradually develop tolerance to carbohydrates over time

•

en:patients achieve ambulation

•

en:paternal age effect

•

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

•

en:onset within the first decade of life

•

en:onset within first 6 months of life

•

en:onset in first weeks or months of life

•

en:onset between 28 and 42 years

•

en:prenatal diagnosis by ultrasound

•

en:most become wheelchair-bound late in life

•

en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl)

•

en:most pregnancies with affected fetuses resulted in elective termination molecular genetics : caused by mutation in the homolog of the drosophila crumbs 2 gene (crb2, 609720.0006)

•

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

•

en:most patients remain ambulatory in adulthood

•

en:most patients die from heart failure

•

en:most patients are severely affected

•

en:mild asymmetric regional disease (e.g. 180380.0029)

•

en:neurologic signs are present in the neonatal period only

•

en:mildly progressive

•

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

•

en:milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia

•

en:median survival is > 50 years

•

en:median life expectancy, 13.4 years

•

en:mean age of onset 50.2 years

•

en:mean age at resolution of symptoms 10 years

•

en:neonatal or infant death

•

en:newborn period is critical for survival

•

en:onset between 18 and 65 years

•

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

•

en:onset at 2 to 4 years

•

en:onset 1-12 years

•

en:one third of patients represent new mutations

•

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

•

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

•

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

•

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

•

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

•

en:normal ability to tolerate heat

•

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

•

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

•

en:occurs in 1 in 50,000 newborn males

•

en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland)

•

en:normal in neonatal period

•

en:normal first month

•

en:normal cag repeat length is 7 to 32 triplets

•

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

•

en:prenatal or neonatal onset

•

en:may occur in adults (also in pregnancy)

•

en:treatment with polyethylene glycol-modified bovine ada, bone marrow transplantation, and/or gene therapy

•

en:two subtypes based on pathologic findings of 'balloon cells' - type iia, absence of balloon cells and type iib, presence of balloon cells

•

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

•

en:two patients in one ashkenzai jewish family described (last curated june 2014)

•

en:two pakistani families have been reported (last curated december 2012)

•

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

•

en:twelve or more lesions per eye in individuals over 60 years of age

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:the most studied group is efe pygmies from ituri forest in northeast zaire

•

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

•

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

•

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

•

en:syncope ▷?

•

en:variable expressivity of each feature

•

en:microcephaly, primary autosomal recessive, 2 (disorder)

•

en:vasculitic symptoms are associated with cold exposure (in some patients)

•

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

•

en:variable progression rate

•

en:variable penetrance of these features

•

en:variable heat tolerance

•

en:variable features

•

en:variable age of onset (childhood to adult)

•

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

•

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

•

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

•

en:unusual skill with jigsaw puzzle

•

en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic)

•

en:typically no physical features of albright hereditary osteodystrophy (aho)

•

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

•

en:two unrelated patients with pathogenic csf2rb mutations have been reported (last curated december 2014)

•

en:the characteristic changes in the spine resolve by adolescence

•

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

•

en:prevalence 1-2% in northern european populations

•

en:rarely reported in infants

•

en:see also later childhood-onset form (300718)

•

en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome

•

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

•

en:reported in individuals of french canadian origin

•

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

•

en:recurrent acute episodes

•

en:rapidly progressive episodes

•

en:seizures are often refractory

•

en:rapidly progressive deterioration (in some patients)

•

en:provoked by crying or emotional upset

•

en:progression of phenotype with age

•

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

•

en:prevalence of 1 in 6,000 to 1 in 10,000

•

en:prevalence in the finnish population of 5.8 per million

•

en:prevalence estimated at 1 in 86,000

•

en:see also pseudopseudohypoparathyroidism (612463)

•

en:seizures may occur upon awakening or at any time during the day

•

en:symptoms usually resolve without treatment

•

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

•

en:symptoms precipitated by stress, exertion, fatigue, alcohol

•

en:symptoms occur only during sleep

•

en:symptoms improve following sleep

•

en:subtle facial phenotype compared to other types of hpe

•

en:static or slowly progressive

•

en:some patients may show a favorable response to oral coenzyme q10 supplementation

•

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

•

en:some patients do not achieve independent ambulation

•

en:seizures remit in early childhood

•

en:some female carriers are more mildly affected

•

en:skin changes have onset in childhood

•

en:skewed x-inactivation in carriers

•

en:signs and symptoms depend on tumor location and activity

•

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

•

en:severe course

•

en:severe ambulatory restriction

•

en:mean age at onset 16.5 years (range 9 to 35 years)

•

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

•

en:maternal uniparental disomy (upd)7 reported in some cases

•

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

•

en:all de novo mutations

•

en:all cases occur in a jewish religious isolate originally from cochin, india

•

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

•

en:allelic to infantile sialic acid storage disorder (269920)

•

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

•

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

•

en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847)

•

en:alopecia may spontaneously regress, become chronic, or spread diffusely

•

en:allelic disorder to parkinson disease-1 (park1, 168601)

•

en:allelic disorder to northern epilepsy (610003)

•

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

•

en:allelic disorder to infantile neuroaxonal dystrophy (256600)

•

en:allelic disorder to autosomal dominant spg13 (605280)

•

en:allelic disorder is brugada syndrome (601144)

•

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:all reported mutations have occurred de novo

•

en:appear normal at birth

•

en:age of onset, 6-20 years

•

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

•

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

•

en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability

•

en:both autosomal dominant and autosomal recessive inheritance has been described

•

en:bone abnormalities improve with age

•

en:bleeding episodes occur early in life and may disappear with age

•

en:many adults with typical form remain ambulatory

•

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

•

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

•

en:associated specifically with the gba d409h mutation (606463.0006)

•

en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014)

•

en:average disease duration of 7 years

•

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

•

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

•

en:autosomal recessive inheritance can occur

•

en:associated with trauma and impaired wound repair (alcoholism, diabetes, substance abuse, liver disease)

•

en:associated with fragile x syndrome (309550)

•

en:age of onset ranges from infancy to young adulthood (6 months-19 years)

•

en:age at onset ranges from 50 to 70 years

•

en:clinically resembles spinal muscular atrophy-1 (sma1, 253300)

•

en:variable frequency and severity

•

en:worldwide frequency of 1 in 100,000 infants

•

en:wide phenotypic variability and severity

•

en:wheelchair use at 20-30 years

•

en:variable severity of brain malformations

•

en:variable severity (mild symptoms to severe handicap)

•

en:variable response to vitamin b12 therapy

•

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

•

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

•

en:variable cataract phenotypes within a family

•

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

•

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

•

en:usually poor response to steroid treatment

•

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

•

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

•

en:two unrelated patients reported (last curated september 2012)

•

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

•

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

•

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

•

en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease

•

en:age at diagnosis 2-4 months

•

en:affects 1 to 3% of the population

•

en:adult onset (range 14 to 70 years)

•

en:adult onset (mean age 37 years)

•

en:adult onset, usually 30's to 40's, but up to early 60's

•

en:adult-onset in third to fourth decade

•

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

•

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

•

en:service comment 36:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:20-40% patients are asymptomatic

•

en:(2) juvenile or adolescent nephropathic (219900)

•

en:service comment 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:service comment 48:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:clinically mimics congenital torch infections (see 251290)

•

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

•

en:clinical improvement after 2 to 3 weeks of supportive care

•

en:hearing loss and ocular findings are variable

•

en:high frequency in the french-canadian population

•

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

•

en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104)

•

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

•

en:hepatomegaly improves with age and disappears around puberty

•

en:hearing loss progresses to profound deafness

•

en:hearing loss affects all frequencies

•

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

•

en:headache duration 4-72 hours

•

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

•

en:genetic heterogeneity (see rieg2, 601499)

•

en:genetic heterogeneity (see pfm1, 168500)

•

en:genetic heterogeneity (see hhf1 256450)

•

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

•

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

•

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

•

en:hyperthermia in early childhood

•

en:full recovery after attacks

•

en:isolated cases

•

en:malnutrition can be severe, requiring total parenteral nutrition

•

en:males mores severely affected than females

•

en:majority of wws patients die within the first year of life

•

en:less severe phenotype in females

•

en:leigh syndrome, x-linked

•

en:left side involvement associated with serious cardiac defect

•

en:later onset in females

•

en:intrafamilial phenotypic variation may occur

•

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

•

en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza)

•

en:increased susceptibility to malignant hyperthermia

•

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

•

en:increased frequency in finland

•

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

•

en:incidence 1/100,000 - 1/200,000 live births

•

en:improvement of abnormal muscle biopsy and cox deficiency

•

en:generally static disease course

•

en:hair regrowth may occur later in life

•

en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2

•

en:death usually in childhood

•

en:distinctive and stereotyped sequence of events

•

en:disease complicated by recurrent sepsis in some patients

•

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

•

en:delayed separation of umbilical cord

•

en:death within first decade

•

en:forty percent of patients die in the first year

•

en:death often occurs in childhood

•

en:distinct disorder from parkinson disease (168600)

•

en:death in utero

•

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

•

en:death in first months of life

•

en:death in early childhood may occur

•

en:death by age 6-7 years

•

en:contiguous gene duplication syndrome

•

en:complete penetrance

•

en:distinct disorder from acquired limb-girdle myasthenia (159400) and limb-girdle myasthenia with tubular aggregates (610542)

•

en:death usually in teenage years

•

en:diurnal fluctuation of neurologic symptoms

•

en:favorable response to alcohol

•

en:does not result in renal failure

•

en:fishy body odor

•

en:female preponderance

•

en:female carriers may show intermittent hematuria

•

en:febrile attacks disappear in adulthood in some patients

•

en:favorable response to oral creatine treatment

•

en:favorable response to l-dopa

•

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

•

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

•

en:eight unrelated patients have been reported (as of september 2011)

•

en:early onset (9-48 years, but reported up to 68 years)

•

en:early death without kidney transplant

•

en:early death in some patients due to cardiorespiratory involvement

•

en:early death in males

•

en:dysmorphic facial features reported in 1 family

•

en:estimated gene carrier frequency of 1 in 5,000

•

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

•

en:usually a sporadic disorder

•

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

•

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

•

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

•

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

•

en:variable age at onset from childhood to adulthood

•

en:venous malformations previously referred to as angiomas or hemangiomas

•

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

•

en:variable frequency and duration of episodes

•

en:variable response to acetylcholinesterase inhibitors

•

en:variably severity

•

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

•

en:wheelchair use by 10-30 years

•

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

•

en:women affected more than men (3:2)

•

en:type a characterized by progressive myoclonic epilepsy

◀

en:variable ▷?

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=8039555 • caches: c1=8 c2=1003 c3=1

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]

A propos

Le Diko est la version dictionnaire du réseau obtenu avec JeuxDeMots, PtiClic, Askit et Totaki. Les données sont libres de droit. Pour contribuer, il suffit soit de jouer à JeuxDeMots, soit de contribuer directement ici (vous devez être connecté avec votre pseudo et cliquer sur le crayon en haut à droite pour passer en mode contributif).
Ce dictionnaire est associatif selon de multiples types de relations, et ne contient pas de définition (vous pouvez préférer une sortie non formatée du rezo). Informations complémentaires et statistiques, ici.

Champs masqués

vide

10.7 s