Le Diko - en:prevalent among the amish

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Le Diko - en:prevalent among the amish

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le dictionnaire d'associations lexicales
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(id=8036968)

en:prevalent among the amish

Nom

Informations lexicales

Langue:anglais

Informations sémantiques

source:wiki

Associations d'idées

1000

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

•

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

•

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

•

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

•

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

•

en:see 177850 for description of heterozygous phenotype

•

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

•

en:phenotypic overlap with denys-drash syndrome (194080).

•

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

•

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

•

en:onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile')

•

en:onset 6 to 30 years

•

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

•

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

•

en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840)

•

en:many patients are asymptomatic

•

en:majority of patients develop symptoms within the first few weeks of life

•

en:limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures

•

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

•

en:estimated frequence 1/3000 to 1/5000

•

en:episode frequency is monthly to yearly, and decreases with age

•

en:breech presentation

•

en:both recessive and dominant inheritance have been reported

•

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

•

en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351)

•

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

•

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

•

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

•

en:some patients show delayed development from birth

•

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

•

en:prevalence of sleep terrors about 3% in children

•

en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients

•

en:onset in first decades (males)

•

en:onset at birth or early childhood

•

en:not all patients have facial dysmorphism

•

en:mutations in the cpo gene cause 3 clinically distinct disorders, hereditary coproporphyria (hcp), 'homozygous' variant hereditary coproporphyria, or harderoporphyria

•

en:may be precipitated by minor illness (e.g., viral infection, fever)

•

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

•

en:intermediate levels of factor x in mildly symptomatic heterozygotes

•

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

•

en:incidence 1/1,200-1/15,000 live births

•

en:genetic heterogeneity (see mcc2 deficiency 210210)

•

en:generally benign disorder

•

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

•

en:four types of cgd with basically identical clinical phenotypes

•

en:favorable response to flunarizine

•

en:described in single afrikaner family

•

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

•

en:childhood or adolescent onset (usually less than 25 years)

•

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

•

en:adult onset of gait abnormalities

•

en:adult onset (range 15 to 53 years)

•

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

•

en:14 patients in 8 recessive kindreds reported (as of february 2012)

•

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

•

en:weakness during pregnancy in affected females

•

en:variable penetrance and expressivity

•

en:variable involvement of hematologic parameters

•

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

•

en:usually no increased fragility of hair

•

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

•

en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014)

•

en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation

•

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

•

en:survival to 10 years

•

en:single lesions in sporadic cases

•

en:see also autosomal dominant peoa1 (157640)

•

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

•

en:repeat is unstable if > 52 repeats

•

en:relationship of rare neuropsychiatric signs to histidinemia is unclear

•

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

•

en:onset of tumors usually in adulthood

•

en:onset in early childhood after initial normal development

•

en:onset 23 to 30 years

•

en:onset - present at birth

•

en:one patient with severe congenital onset has been reported

•

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

•

en:no clinical details provided by the authors

•

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

•

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

•

en:mild expression in heterozygous carriers

•

en:maternal breast milk is protective

•

en:majority of cases have bilateral involvement

•

en:loss of independent ambulation due to muscle weakness in adulthood

•

en:genetic heterogeneity (see hcfp1, 601471)

•

en:genetic heterogeneity (see 610168)

•

en:genetic heterogeneity (see 604559)

•

en:found predominantly in the amish population

•

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

•

en:earlier onset is associated with more rapid progression

•

en:benign condition

•

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

•

en:acquired autoimmune disorder

•

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

•

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

•

en:variable response to levodopa treatment

•

en:variable progression

•

en:variable age at onset, but usually in childhood

•

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

•

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

•

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

•

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

•

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

•

en:muscle involvement shows onset at birth or in infancy

•

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

•

en:inheritance may be x-linked dominant

•

en:increased abortuses of homozygous or compound heterozygous fetuses

•

en:f syndrome (102510) has many overlapping features

•

en:findings in muscle biopsy may be variable

•

en:diagnosis made if 3/7 defects are present

•

en:death may occur in late childhood

•

en:death in childhood secondary to malabsorption

•

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

•

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

•

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

•

en:autosomal recessive inheritance has been reported

•

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

•

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

•

en:type iii is intermediate form

•

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

•

en:three patients from 1 french canadian family have been reported (last curated november 2014)

•

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

•

en:static, nonprogressive disorder

•

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

•

en:slow, progressive growth, then stable

•

en:see also pseudohypoparathyroidism type ib (603233) and ic (612462)

•

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

•

en:see 608358 for an autosomal dominant form

•

en:pyogenic arthritis, pyoderma gangrenosum and acne

•

en:presents at a later stage than sporadic wilms tumor

•

en:onset of symptoms 2-4 weeks of age

•

en:onset of gait abnormalities at 8 to 40 years

•

en:onset of crises in early childhood

•

en:onset between 6 and 15 years

•

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

•

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

•

en:med is a heterogeneous disorder (see med1 (132400), med2 (600204), med3 (600969), med4 (226900), med5 (608078), and med with diabetes mellitus (226980))

•

en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals

•

en:male to female ratio 7:1

•

•

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

•

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

•

en:genetic heterogeneity (see mks2 603194 and mks3 607361)

•

en:genetic heterogeneity (see 166600)

•

en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003)

•

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

•

en:excessive postsurgical blood loss

•

en:a wnt3 mutation has been identified in 1 affected family

•

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

•

en:all affected individuals have been stillborn or died in the neonatal period

•

en:age of onset between 20 to 30 years

•

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

•

en:absence seizures usually remit by puberty

•

en:variable manifestations

•

en:this patient died at age 8 months

•

en:susceptibility to infections starts in the first week of life

•

en:spontaneous resolution usually after 12 months of age

•

en:some more severely affected patients may die in infancy

•

en:reduced fertility

•

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

•

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

•

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

•

en:onset of seizures ranges from 2 to 11 years

•

en:onset in late childhood or adulthood

•

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

•

en:one-third of cases are familial

•

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

•

en:many cases due to de novo mutation

•

en:lower limb weakness is presenting feature

•

en:intrafamilial variability in degree of nail involvement

•

en:imprinting at 11p15.5

•

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

•

en:genetic heterogeneity, see apmr1 (203650)

•

en:four cases have been reported, all female

•

en:fetal death usually occurs

•

en:epiphyseal stippling is gone by 8 months of age

•

en:early age of onset (approximately 45 years)

•

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

•

en:chelation therapy can result in clinical improvement

•

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

•

en:approximately 60% of brrs patients have pten mutations

•

en:age of onset ranges from 1 to 47 years

•

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

•

en:about half of patients report vestibular symptoms

•

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

•

en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood

•

en:two patients have been reported

•

en:slow or nonprogressive

•

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

•

en:penetrance 86% by 50 years of age

•

en:patients who acquire ability to walk may lose it

•

en:pain is relieved by antiinflammatory medication

•

en:onset of seizures in later childhood (5 to 10 years)

•

en:onset at 2 to 4 years

•

en:onset after third decade

•

en:one patient with normal cognition has been reported

•

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

•

en:no phenotype in heterozygotes

•

en:neurologic signs may not be present

•

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

•

en:mode of inheritance is uncertain

•

en:improvement of abnormal muscle biopsy and cox deficiency

•

en:hearing loss progresses to profound deafness

•

en:genetic heterogeneity (see pfm1, 168500)

•

en:genetic heterogeneity (see cmtdia 606483)

•

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

•

en:female carriers may have asymptomatic proteinuria or hypercalciuria

•

en:favorable response to alcohol

•

en:drug-induced dyskinesias occur in a subset of patients

•

en:based on one finnish family

•

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

•

en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms

•

en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:variable cardiac defects

•

en:types of psoriasis include - plaque, guttate, erythrodermic, pustular

•

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

•

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

•

en:slight male predominance (3:2)

•

en:see 609888 for a discussion on leprosy susceptibility

•

en:patients with medication-resistant hypertension require bilateral adrenalectomy

•

en:onset precipitated by fasting or illness

•

en:onset in the first decade (range birth to 8 years)

•

en:onset between 3 and 6 months of age

•

en:occurs in ~3% pregnancies in western populations

•

en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene

•

en:no dysmorphic features

•

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

•

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

•

en:may be x-linked

•

en:many patients become wheelchair-bound

•

en:majority of wilms tumors are sporadic

•

en:increased prevalence in persons of ashkenazi jewish descent

•

en:frequency and severity of seizures tends to decrease with age

•

en:five patients reported (as of march 2009)

•

•

en:early lethality in most cases

•

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

•

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

•

en:adult onset from second to seventh decade

•

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

•

en:service comment 63: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 adult)

•

en:type 2n shows autosomal recessive inheritance

•

en:spontaneous tumor regression may occur

•

en:skeletal abnormalities are variable

•

en:seizures are followed by drowsiness in most cases

•

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

•

en:presentation in early childhood

•

en:perinatal lethality

•

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

•

en:patients may become wheelchair-bound

•

en:patients have no abnormalities of hair, teeth, or bone

•

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

•

en:onset 5-30 years

•

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

•

en:often confused with tuberous sclerosis (191000)

•

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

•

en:most patients remain ambulatory in adulthood

•

en:infants show normal size and appearance

•

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

•

en:genetic heterogeneity (see rieg2, 601499)

•

en:genetic heterogeneity (see 125800)

•

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

•

en:febrile seizures show onset between 6 months and 3 years

•

en:dysmorphic facial features reported in 1 family

•

en:death in early childhood

•

en:death from pneumonia

•

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

•

en:based on 4 patients in one family

•

en:average age at onset 38 years

•

en:all reported mutations have occurred de novo

•

en:adult onset (mean 30 years, range 5-60 years)

•

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

•

en:worsened by immunosuppressive therapy

•

en:usually favorable response to treatment

•

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

•

en:prevalence of 1 in 240 zuni indians

•

en:prevalence 1 in 8000

•

en:poor response to l-dopa

•

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

•

en:other tumors may also occur

•

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

•

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

•

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

•

en:one patient with additional features of fanconi anemia has been reported

•

en:mental development worsens after onset of seizures

•

en:infantile, late-infantile, juvenile, and adult onset have been reported

•

en:four patients have been reported from pakistan (as of march 2011)

•

en:fever of unknown origin

•

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

•

en:females more severely affected than males

•

en:favorable response to oral bile acid therapy

•

en:end-stage renal failure in first decade

•

en:early death without bone marrow transplantation

•

en:diurnal fluctuation of symptoms

•

en:death often occurs in the first decade

•

en:common in afrikaan population, south africa

•

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

•

en:a heterozygous mutation resulting in haploinsufficiency has been reported in 1 patient

•

en:age at onset ranges from neonatal to adulthood

•

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

•

en:usually fatal in first 2 decades

•

en:two subtypes noninflammatory type a and inflammatory type b

•

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

•

en:thorax anomaly ameliorates with age (in some patients)

•

en:symptoms develop immediately after birth

•

en:seizures tend to become more focal with age

•

en:reduced penetrance (approximately 87%)

•

en:progression of the disorder is precipitated by viral symptoms

•

en:prevalence estimated at 1 in 86,000

•

en:peripheral neuropathy occurs in adulthood

•

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

•

en:onset usually in second decade

•

en:onset of contractures in utero

•

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

•

en:onset in first decade of life

•

en:onset in fifties or sixties

•

en:onset in childhood or youth

•

en:onset at 4 to 7 years

•

en:most retain independent ambulation

•

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

•

en:hairy elbows become apparent in infancy and regress during adolescence

•

en:generally static disease course

•

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

•

en:death in early childhood may occur

•

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

•

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

•

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

•

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

•

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

•

en:usually fatal in infancy

•

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

•

en:the characteristic changes in the spine resolve by adolescence

•

en:similar clinical phenotype to edsiii (130020)

•

en:recurrent bacterial, viral, and fungal infections

•

en:prevalence in taiwan is 1 in 132,000

•

en:patients become wheelchair-bound as adults

•

en:onset usually in third decade of life

•

en:onset of mild symptoms in first or second decade

•

en:onset of hearing loss in first or second decade

•

en:onset in teens has been reported

•

en:onset at 2 to 15 years

•

en:ninety percent of cases are female

•

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

•

en:highly variable severity of muscle weakness

•

en:genetic heterogeneity (see 209850)

•

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

•

en:five unrelated cases have been reported (as of march 2012)

•

en:females tend to have earlier onset

•

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

•

en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes

•

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

•

en:cardiomyopathy may develop later in the disease

•

en:waddling gait, often presenting sign in second year

•

en:ptosis is usually presenting feature

•

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

•

en:onset usually in early childhood (but can range from infancy to adolescence)

•

en:onset in the perinatal period

•

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

•

en:onset in childhood, but most noticeable in mid-teens and early adulthood

•

en:onset as neonate

•

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

•

en:nyctalopia is a later feature of the disorder

•

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

•

en:male infertility

•

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

•

en:highly variable phenotype with respect to facial dysmorphism and neurologic features

•

en:highly variable phenotype and severity

•

en:highly variable expression

•

en:genetic heterogeneity (see etl2, 608096)

•

en:flunarizine treatment may be beneficial

•

en:favorable response to clonazepam

•

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

•

en:earlier onset may occur

•

en:congenital disorders

•

en:characteristic facial features become more apparent with age

•

en:carrier frequency 1:700 in bukhara jewish populations

•

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

•

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

•

en:an autosomal recessive form has been reported (269720)

•

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

•

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

•

en:age at diagnosis 2-4 months

•

en:zinc deficiency in breastfed offspring resolves after weaning

•

en:two patients with a wws phenotype have been reported

•

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

•

en:six patients from 1 saudi arabian family have been reported (last curated december 2011)

•

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

•

en:severe infantile cases usually die by 6 months

•

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

•

en:onset usually before age 40 years

•

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

•

en:one family reported (last curated november 2011)

•

en:neurologic dysfunction is infrequent and associated with delayed diagnosis

•

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

•

en:mean age at onset of dementia is 57 years

•

en:mean age at onset 22 years (range 7 to 50 years)

•

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

•

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

•

en:involuntary and nonvolitional phenomenon

•

en:infants occasionally mistaken as having down syndrome

•

en:highly variable pathologic phenotype

•

en:group a patients die in the first years of life

•

en:gonadal mosaicism may occur

•

en:genetic heterogeneity (see cmt4a 214400)

•

en:female carriers may have cardiac defects

•

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

•

en:early exhaustion on exertion

•

en:death usually in sixth decade

•

en:contiguous gene deletion syndrome of 5q31

•

en:common in south african whites

•

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

•

•

en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289)

•

en:allelic disorder to rapp-hodgkin syndrome (rhs, 129400)

•

en:young-adult onset (18-30 years) of sensory ataxia

•

en:x-linked recessive cytochrome b-negative cgd

•

en:worldwide prevalence of 1/100,000

•

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

•

en:vhl type 2a - hemangioblastoma and pheochromocytoma

•

•

en:variable severity (in patients with hsan2d)

•

en:variable response to steroid treatment

•

en:variable response to acetylcholinesterase inhibitors

•

en:variable presentation

•

en:variable neuroradiologic findings

•

en:variable age of onset of renal manifestations

•

en:variable age of onset, ranging from 11 to 50 years

•

en:variable age at onset of seizures

•

en:variable age at onset (range from early childhood to mid-adult)

•

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

•

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

•

en:type ii is progressive and leads to shortened lifespan

•

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

•

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

•

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

•

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

•

en:two unrelated families have been reported (as of october 2010)

•

en:two peaks of onset, childhood and adult

•

en:two patients reported (last curated may 2013)

•

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

•

en:two families reported (last curated february 2013)

•

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

•

en:twenty-five percent of affected babies are stillborn

•

en:tumors usually develop between 40 and 60 years of age

•

en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection

•

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

•

en:thromboembolism is the most common cause of death

•

en:three types of cystinosis are recognized

•

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

•

en:symptoms must occur for 6 months including 1 month of characteristic symptoms (e.g. delusions) to make diagnosis

•

en:symptoms improve during the summer

•

en:symptoms benefit from sleep

•

en:survival to advanced age

•

en:survival greater than one year rare

•

en:subtle personality and behavioral changes are presenting signs

•

en:stable or slowly progressive course

•

en:spontaneous resolution of seizures by 12 months of age

•

en:spontaneously resolves by 5 to 6 months of age

•

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 patients show onset later in childhood

•

en:some patients show improvement during summer or with fever

•

en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic

•

en:some patients may benefit from coenzyme q10 treatment

•

en:some patients have milder persistent blistering

•

en:some patients do not develop renal failure

•

en:some patients can be treated with large doses of vitamin d and calcium

•

en:some patients acquire late ambulation

•

en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation)

•

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

•

en:skin lesions worsen with heat or sun exposure

•

en:skin lesions resolve between 6 months and 2 years of age

•

en:six patients reported (last curated march 2015)

•

en:short limbs become more apparent during childhood

•

en:severe disorder

•

en:seizure onset in first months or years of life

•

en:seizures remit by age 5 years

•

en:seizures may occur with illness

•

en:seizures may improve with age

•

en:seizures are sensitive to hyperventilation

•

en:see also junctional eb with pyloric atresia (226730)

•

en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800)

•

en:see also dominant deb (131750), an allelic disorder with a less severe phenotype

•

en:see also autosomal recessive form (612304)

•

en:see also autosomal dominant sick sinus syndrome (163800)

•

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

•

en:responsive to high-dose biotin or biotin/thiamine treatment

•

en:response to benadryl (diphenhydramine)

•

en:resembles pseudo-torch syndrome (251290)

•

en:reported in the ohio amish anabaptist community

•

en:rare spontaneous improvement occurs (8%)

•

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

•

en:progressive disease is seen in some patients

•

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

•

en:prevalent among patients of asian descent, particularly japanese

•

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

•

en:prevalence of 0.5 to 1 in 1,000

•

en:prevalence 1-2% in northern european populations

•

en:presentation between 6-18 months

•

en:prelingual onset in males

•

en:persistence of febrile seizures beyond age 6 years

•

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

•

en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136)

•

en:patients with longer disease duration show motor neuron involvement

•

en:patients often nonambulatory by the mid-twenties

•

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

•

en:patients often become wheelchair-bound

•

en:patients may become wheelchair-bound as adults

•

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

•

en:patients gradually develop tolerance to carbohydrates over time

•

en:partially responsive to laser treatment

•

en:overlapping clinical spectrum and allelic to masa syndrome (303350)

•

en:ossification evident 2-8 months following swelling

•

en:onset within the first decade of life

•

en:onset usually in infancy although later onset may occur

•

en:onset usually in early childhood

•

en:onset usually associated with febrile illness

•

en:onset soon after birth

•

en:onset of symptoms within the first 2 decades of life

•

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

•

en:onset of muscle weakness in early childhood, usually before age 10 years

•

en:onset of mental impairment in early childhood

•

en:onset of major clinical features in young adulthood

•

en:onset of liver involvement in infancy

•

en:onset of deafness in early childhood

•

en:onset of achalasia in infancy or early childhood

•

en:onset of abnormal eye movements in early childhood

•

en:onset late childhood

•

en:onset in mid-adulthood

•

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

•

en:onset in childhood or adolescence (mean age of 6 years, range 1 to 18)

•

en:onset in childhood, adolescence

•

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

•

en:onset between second to sixth decades of life

•

en:onset between ages 12 and 20 years

•

en:onset between 9 and 16 years

•

en:onset between 6 and 12 months of age

•

en:onset between 5 and 20 years

•

en:onset around age 2 years

•

en:onset 10-20 years of age

•

en:only apparent in patients taking eculizumab

•

en:one patient reported (last curated november 2013)

•

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

•

en:one family of puerto rican descent has been reported (last curated january 2015)

•

en:one family has been reported and no additional clinical features were provided (last curated june 2013)

•

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

•

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

•

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

•

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

•

en:often refractory to medical therapy

•

en:occurs in 1 in 50,000 newborn males

•

en:normal range of expanded repeats 9-29, hd range 36-121

•

en:normal neonatal course

•

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

•

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

•

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

•

en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses)

•

en:mother had rubella infection during pregnancy with daughter

•

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

•

en:most patients die in early childhood

•

en:most patients die from heart failure

•

en:most patients become wheelchair-bound after 20 to 30 years

•

en:most patients are severely affected

•

en:most common inherited ataxia

•

en:most common form of bowel obstruction in infancy

•

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

•

en:mild disease course

•

en:medial onset of end stage renal disease 13 years

•

en:mean age of onset 50.2 years

•

en:mean age at resolution of symptoms 10 years

•

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

•

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

•

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

•

en:many patients recover normally

•

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

•

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

•

en:lower limbs more severely affected

•

en:late adult onset (after age 55 years)

•

en:late-adult onset (fifth to sixth decade)

•

en:joint laxity decreases with age

•

en:jbts shows autosomal dominant inheritance

•

en:intrafamilial variability in nail changes

•

en:intrafamilial variability in degree of hypotrichosis

•

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

•

en:inheritance pattern is unclear

•

en:infantile onset with hepatic involvement

•

en:independent ambulation is maintained

•

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

•

en:incomplete penetrance with 45 to 51 repeats

•

en:incomplete, but high, penetrance

•

en:incidence of 1 in 250,000 births

•

en:incidence of 1 in 100,000 births

•

en:incidence - 1/16,000 live births

•

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

•

en:hip joint replacement often necessary

•

en:high frequency in japan (2 in 20,000, 0.1%)

•

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

•

en:highly variable clinical phenotype

•

en:heterozygous female carriers may manifest symptoms

•

en:heterozygous females more mildly affected than hemizygous males

•

en:heterozygotes may exhibit syndromic manifestations

•

en:heterozygotes are not affected

•

en:haploinsufficiency of rps14 (130620)

•

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

•

en:group c is relatively benign

•

en:genetic heterogeneity (see eca1, 600131 and eca3, 607682)

•

en:genetic heterogeneity (see cmt4b1, 601382)

•

en:genetic heterogeneity (see 608638)

•

en:genetic heterogeneity (see 304800)

•

en:genetic heterogeneity (see 161400)

•

en:genetic heterogeneity (ccm2 603284, ccm3 603285)

•

en:genetic heterogeneity, see spg3a (182600)

•

en:genetic heterogeneity, see ppnad2 (610475)

•

en:genetic heterogeneity, see evr1 (133780)

•

en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold

•

en:genetic anticipation occurs

•

en:frequency of attacks may decrease with age or during pregnancy

•

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

•

en:four unrelated patients have been reported (last curated june 2014)

•

en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form

•

en:for autosomal recessive forms, see cmt2b1 605588 and cmt2b2 605589

•

en:five patients have been reported (as of april 2011)

•

en:fifty percent of cases secondary to new mutations

•

en:females are most often affected, but rare male cases have been reported

•

en:evidence of systemic iron overload seen in 1 family

•

en:estimated mutation carrier rate of 1 in 350

•

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

•

en:enterocolitis tends to remit with age

•

en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood

•

en:early death without kidney transplant

•

en:early death may occur

•

en:early death in males

•

en:early death (in some patients)

•

en:early age of onset, usually less than 3 years

•

en:earlier onset is associated with a more severe disorder

•

en:dyskinesia may occur in homozygotes (1 reported case)

•

en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%)

•

en:diurnal fluctuation of neurologic symptoms

•

en:distinct disorder from galactosemia (230400)

•

en:diagnosis within the first 3 months of life

•

en:diagnosis in the second decade of life

•

en:death within first decade

•

en:death usually occurs by 12 months of life

•

en:death usually due to renal failure by average age 3

•

en:death in the fifth or sixth decade

•

en:death in childhood often results from respiratory insufficiency

•

en:death before age 40

•

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

•

en:cutaneous symptoms induced by cold exposure or cooling

•

en:complete penetrance

•

en:complete absence of melanin synthesis

•

en:clinical onset within first 2 years of life

•

en:clinically unaffected heterozygotes may show changes on electroretinography

•

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

•

en:childhood or adolescent onset, protracted, with myopathy and neuropathy

•

en:carrier females may show neuropsychologic impairment

•

en:broad range in severity of presentation in sibships

•

en:both homozygous and heterozygous ednrb mutations have been found

•

en:both germline (familial) and somatic (sporadic) mutation in kit (164920) and pdgfra (173490) have been found

•

en:bone abnormalities improve with age

•

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

•

en:based on 1 reported family with oca6

•

en:a subset of patients improve with thiamine

•

en:a second patient died at age 3 years

•

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

•

en:autosomal recessive inheritance can occur

•

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

•

en:associated with fragile x syndrome (309550)

•

en:associated with deletion at chromosome 2q37

•

en:approximately 50db loss in adulthood

•

en:approximately 50% of cases are acute, severe neonatal illness often with rapid death and 50% are chronic episodic with asymptomatic intervals

•

en:approximately 40% of patients die within newborn period

•

en:antenatal onset

•

en:allelic to noonan syndrome (163950)

•

en:allelic to mevalonic aciduria (610377)

•

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

•

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

•

en:allelic to deafness, neurosensory, autosomal recessive 18 (602092)

•

en:allelic to brachydactyly, type a2 (112600)

•

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

•

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

•

en:allelic disorder to northern epilepsy (610003)

•

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

•

en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390)

•

en:allelic disorder to branchiootic syndrome (bos1, 602588) and otofaciocervical syndrome (166780)

•

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

•

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

•

en:allelic disorder is brugada syndrome (601144)

•

en:age of onset varies between 18 years and 53 years

•

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

•

en:age of onset 5 to 19 years

•

en:age of onset 28 to 70 years

•

en:affected males are somatic mosaic for mutations

•

en:affected infants die in neonatal period

•

en:affected females may have increased spontaneous abortions

•

en:adult onset (mean age 37 years)

•

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

•

en:adult form is asymptomatic

•

en:adolescent or adult onset associated with neuropsychiatric symptoms

•

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

•

en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation'

•

en:7 unrelated patients have been reported

•

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

•

en:20-40% patients are asymptomatic

•

en:1 in 17,000 in china

•

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

•

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

•

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

•

en:service comment 50: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:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:young adult onset

•

en:xy karyotype

•

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

•

en:variable severity of brain malformations

•

en:variable severity (mild symptoms to severe handicap)

•

en:variable response to vitamin b12 therapy

•

en:variable presentation and evolution of symptoms

•

en:variable phenotype within families

•

en:usually a sporadic disorder

•

en:up to 60% of female mutation carriers develop lobular breast cancer

•

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

•

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

•

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

•

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

•

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

•

en:two families described (last curated july 2013)

•

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

•

en:two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations)

•

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

•

en:treatment with enzyme replacement therapy

•

en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery

•

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

•

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

•

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

•

en:telangiectasia become evident between the second and eighth year of life

•

en:systemic iron overload due to ineffective erythropoiesis

•

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

•

en:survival past infancy is rare

•

en:sudden infantile death may occur

•

en:subtype 3a comprises myoclonus and dementia

•

en:spinal tumors are necessary for diagnosis

•

en:some patients with advanced loss of vision have normal eog

•

en:some patients require cardiac transplantation

•

en:some patients may have normal psychomotor development

•

en:some patients have only plantar surface involvement

•

en:some patients have a milder nonprogressive phenotype

•

en:some patients can attend special school

•

en:some mutation carriers have mild features of frontonasal dysplasia (613451)

•

en:some features may be variable

•

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

•

en:skin lesions manifest in the first year of life

•

en:severe infections in untreated patients with neutropenia

•

en:seizures remit in early childhood

•

en:seizures occur upon awakening

•

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

•

en:see also severe, early-onset form (300717)

•

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

•

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

•

en:see also cbld (277410)

•

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

•

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

•

en:reported in individuals of french canadian origin

•

en:relapsing-remitting course

•

en:reduced penetrance (89%)

•

en:recurrent bacterial infections beginning in childhood

•

en:rapid progression to disability

•

en:rapidly progressive

•

en:progressive renal disorder

•

en:primary teeth affected greater than secondary teeth

•

en:prevalent among individuals of east asian descent

•

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

•

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

•

en:prevalence of 1 in 1,429 in tanzania

•

en:prevalence estimated at 1 in 50,000

•

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

•

en:presentation at 3-6 weeks of age

•

en:prenatal history of maternal diabetes in 35% of cases

•

en:precipitated by febrile illness and fasting

•

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

•

en:plasma cholinesterase measurement

•

en:phenotypic similarities to costello syndrome (218040)

•

en:phenotypically mild form of joubert syndrome

•

en:phenotype may be exacerbated by maltreatment in childhood

•

en:periventricular heterotopia (300049) is an allelic disorder

•

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

•

en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005)

•

en:patients with the autosomal recessive disorder have a more severe phenotype

•

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

•

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

•

en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment

•

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

•

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

•

en:patients may have benign course until late adulthood

•

en:patients have normal pituitary function

•

en:pathogenic cag repeat length is 51 to 78 triplets

•

en:paternal anticipation bias

•

en:pain is noted to feel cold

•

en:onset usually in mid-teens, average 15 years (range 2 to 20 years)

•

en:onset usually in first to third decade of life

•

en:onset usually between 30 and 50 years of age

•

en:onset of symptoms in first decade of life

•

en:onset of spasticity in childhood

•

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

•

en:onset of macrocephaly in the first year of life

•

en:onset of lipodystrophy later in childhood

•

en:onset of hypoglycemia and hyperinsulinism in the neonatal period

•

en:onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty

•

en:onset of essential tremor between 16 and 44 years

•

en:onset of ataxia and neuropathy in early twenties

•

en:onset in utero or in infancy

•

en:onset in the 3rd decade of life or later

•

en:onset in second to fourth decade

•

en:onset in neonatal period or before age 2 years

•

en:onset in infancy (1-2 years)

•

en:onset in fourth to sixth decades

•

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

•

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

•

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

•

en:onset in adolescence

•

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

•

en:onset 5 to 7 years

•

en:onset 50 to 65 years

•

en:onset 0-12 hours after birth

•

en:one turkish girl has been reported (last curated april 2013)

•

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

•

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

•

en:one family reported (as of may 2012)

•

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

•

en:one consanguineous caucasian united kingdom family has been reported (last curated january 2015)

•

en:one child has been reported (as of october 2011)

•

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

•

en:often reared as females until puberty

•

en:often diagnosed between ages 3-4 months

•

en:occurs in the absence of trauma

•

en:no response or worsening with acetylcholinesterase inhibitors

•

en:no history of familial hypercholesterolemia

•

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

•

en:not responsive to biotin treatment

•

en:normal alleles contain 15 to 50 repeats

•

en:neuropathy becomes apparent in childhood

•

en:neurologic features occur later in childhood

•

en:murcs association

•

en:multiple gene loci involved in causation of schizophrenia

•

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

•

en:most patients are clinically asymptomatic and show normal development

•

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

•

en:most patients appear unaffected in the first year of life

•

en:most cases due to de novo mutation

•

en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported

•

en:midline defects

•

en:may fade with age

•

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

•

en:may be fatal in infancy

•

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

•

en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years)

•

en:males are most severely affected, but females can also be affected

•

en:males are more severely affected

•

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

•

en:majority are isolated cases

•

en:longer disease duration than creutzfeldt-jakob disease

•

en:live born infants die within few hours of birth

•

en:levodopa-induced dyskinesias

•

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

•

en:later childhood onset has been reported

•

en:juvenile-onset (before 15 years of age)

•

en:intrafamilial variability

•

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

•

en:increased spontaneous abortions in carrier mothers

•

en:increased sensitivity to heat

•

en:increased risk of miscarriage

•

en:increased frequency in individuals of asian descent

•

en:increased frequency among individuals of east asian descent

•

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

•

en:incidence of 1 in 500,000 live births

•

en:incidence of 1 in 3,900 births among jewish persons

•

en:incidence of 1 in 100,000

•

en:incidence 7-15% in pacific island populations

•

en:incidence 1 in 300,000 in japan

•

en:inborn error of the pyrimidine degradation pathway

•

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

•

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

•

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

•

en:high frequency in hutterite population

•

en:highly variable severity

•

en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334)

•

en:heterozygous carriers have decreased blood pressure compared to the general population

•

en:heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures

•

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

•

en:green color resolves if cholestasis is treated

•

en:genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 183840)

•

en:genetic heterogeneity (see gefs+, 604233)

•

en:genetic heterogeneity (see cmt2a 118210)

•

en:genetic heterogeneity (see 609192)

•

en:genetic heterogeneity (see 145410)

•

en:genetic heterogeneity (bor2, 610896)

•

en:genetic heterogeneity, some patients not linked to fgfr3

•

en:genetic heterogeneity

•

en:generalized dystonia in some cases

•

en:full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome (300624)

•

en:five unrelated patients have been reported (last curated july 2012)

•

en:fifty percent of cases are sporadic

•

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

•

en:favorable response to rituxan (in some patients)

•

en:favorable response to a ketogenic diet

•

•

en:facial dysmorphism is uncommon

•

en:facial dysmorphic features may not be present and may become less apparent in adulthood

•

en:estimated incidence 1/20,000 - 1/40,000

•

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

•

en:episodes triggered by fasting, illness, fever

•

en:episodes last 1 to 2 days

•

en:environmental triggers - cold and wet exposure

•

en:end-stage renal failure may occur

•

en:early diagnosis and proper treatment with folate replacement therapy can avoid neurologic sequelae

•

en:earlier onset is associated with more aggressive disease course

•

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

•

en:distinct from pili annulati (180600)

•

en:disease course depends on age at onset

•

en:diarrhea persists even with vigorous nursing

•

en:diarrhea-associated (d+hus), occurs in children younger than 3 years, associated with verotoxin-producing e. coli (90% of patients) (typical hus)

•

en:despite voluminous steatorrhea, patients' growth and overall state of health is good

•

en:death in infancy

•

en:death frequent in severe infantile form

•

en:death between 2 years of age and young adulthood

•

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

•

en:contiguous gene syndrome

•

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

•

en:considered a benign disorder

•

en:complete manifestation in males

•

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

•

en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets)

•

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

•

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

•

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

•

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

•

en:carrier females may show mild mental retardation or learning disabilities

•

en:cardiac involvement occurs between 5 and 12 years

•

en:cardiac failure at birth

•

en:both demyelinating and axonal features

•

en:bone changes tend to develop after first decade

•

en:bleeding is usually delayed-onset after challenge

•

en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance

•

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

•

en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands

•

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

•

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

•

en:autosomal recessive inheritance in one family (see 603342.0010)

•

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

•

en:ataxia is nonprogressive

•

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

•

en:associated with several congenital malformation syndromes (wagr 194072, beckwith-wiedemann syndrome 130650, abnormal urogenital development syndromes)

•

en:approximately 50% of patients have situs inversus

•

en:apparent in newborn at birth

•

en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013)

•

en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820)

•

en:allelic to naxos disease (601214)

•

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

•

en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410)

•

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

•

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

•

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

•

en:age of onset within the first years of life

•

en:age of onset 23-59 years

•

en:age at onset 14 to 44 years

•

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

•

en:adult onset (range 30 to 50 years)

•

en:adult onset (27 to 48 years)

•

en:acute encephalopathic episodes may occur

•

en:acral hemorrhagic variant

•

en:acetazolamide may benefit attacks of vertigo

•

en:accounts for approximately 5% of the epilepsies

•

en:absence seizures show onset between 3.5 and 4 years

•

en:80% cases new mutations

•

en:2 patients described

•

en:22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (192430)

•

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

•

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

•

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

•

en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:service comment 71:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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

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

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

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en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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

•

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

•

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

•

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

•

en:z allele most common, only in caucasians

•

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

•

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

•

en:variable severity, ranging from central severe to peripheral to transient

•

en:variable phenotype within families ranging from woolly hair to hypotrichosis

•

en:variable phenotype, particularly with regard to cortical malformations

•

en:variable pattern of body involvement although symptoms may predominate in upper or lower body

•

en:variable frequency and severity

•

en:variable age of onset (childhood to adulthood)

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=8036968 • caches: c1=6 c2=1002 c3=1

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