Le Diko - en:early death (in some patients)

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Le Diko - en:early death (in some patients)

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le dictionnaire d'associations lexicales
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en:early death (in some patients)

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:variable severity that correlates with rate and magnitude of neuronal protein accumulation

•

en:mortality, premature

•

en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014)

•

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

•

en:surgical intervention is not always curative

•

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

•

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

•

en:prevalence of 0.5 to 1 in 1,000

•

en:premature death may occur

•

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

•

en:onset between age 2 and 15 years

•

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

•

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

•

en:variable features present

•

en:increased risk of myeloproliferative disorders in those with somatic mutations

•

en:hip joint replacement often necessary

•

en:hearing loss affects all frequencies

•

en:generalized fatigue

•

en:both reported cases survived beyond infancy

•

en:allelic to craniometaphyseal dysplasia (123000)

•

en:affected females have been reported

•

en:adult onset (third decade)

•

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

•

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

•

en:variable age of onset (childhood to adult)

•

en:may result in early death

•

en:vhl type 1 - renal carcinoma and hemangioblastoma

•

en:most patients require ambulatory aids about 10 years after onset

•

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

•

en:usually poor response to steroid treatment

•

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

•

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

•

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

•

en:slow or nonprogressive

•

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

•

en:prevalence of 1 in 50,000-70,000 live births

•

en:one patient was less severely affected

•

en:normal alleles contain up to 30 repeats

•

en:severe phenotype

•

en:favorable response to oral bile acid therapy

•

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

•

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

•

en:lesions apparent at birth

•

en:gonadal mosaicism may occur

•

en:genetic heterogeneity (see 607634)

•

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

•

en:early death in the first few weeks of life

•

en:detected in 1/50,000 in neonatal screening programs

•

en:congenital abnormality

•

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

•

en:prevalence of 1 in 70,000

•

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

•

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

•

en:similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (cln3, 204200)

•

en:patients need lifelong total parenteral nutrition

•

en:reported in a large hutterite family

•

en:vast majority of heterozygotes are asymptomatic

•

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

•

en:two families reported (last curated september 2012)

•

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

•

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

•

en:neurologic features are variable and not progressive

•

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

•

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

•

en:near-normoglycemic remission for period of months to years without insulin treatment

•

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

•

en:mean age of death is 34 years

•

en:insidious onset

•

en:incomplete penetrance (range 13% to 77% by 50 years of age)

•

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

•

en:genetic heterogeneity (see madb, 608612)

•

en:favorable response to oral creatine treatment

•

en:death in the mid-twenties

•

en:considered a benign disorder

•

en:both autosomal dominant and autosomal recessive inheritance have been reported

•

en:70% due to de novo maternal deletion of 15q11.2-q13

•

en:adult onset (before 50 years)

•

en:acquired autoimmune disorder

•

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

•

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

•

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

•

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

•

en:two patients have been reported

•

en:some patients may show response to immunosuppressive agents

•

en:psychiatric symptoms may be the presenting sign

•

en:precipitated by mechanical compression or pressure on nerve

•

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

•

en:patients are born with normal head circumference

•

en:onset usually in the neonatal period although later onset has been reported

•

en:onset of seizures in first 6 months of life

•

en:onset of hearing loss in first or second decade

•

en:onset in fourth to sixth decades

•

en:onset 70-90 years

•

en:patients with medication-resistant hypertension require bilateral adrenalectomy

•

en:most patients die within the first year of life

•

en:deletion sizes range from 287kb to 4.4mb

•

en:most patients are clinically asymptomatic and show normal development

•

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

•

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

•

en:contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the dss1 (601285), dlx5 (600028), and dlx6 (600030) genes and possible regulatory elements in the region

•

en:death in utero or in early infancy is common

•

en:both homozygous and heterozygous ednrb mutations have been found

•

en:variable severity (in patients with hsan2d)

•

en:due to lack of epidermal ridging, patients lack fingerprints

•

en:exercise intolerance often evident in childhood

•

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

•

en:loss of independent ambulation in the second decade

•

en:more common in females (male:female ratio 4:1)

•

en:most common form of childhood idiopathic epilepsy

•

en:penetrance is usually complete by age 65 years

•

en:zinc deficiency in breastfed offspring resolves after weaning

•

en:subtype 3c (231005) comprises cardiovascular calcifications

•

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

•

en:progressive disorder due to secondary myopathy

•

en:prognosis good

•

en:positive family history in 12-33% patients

•

en:polg mutations account for approximately 45% of all peo cases

•

en:complete penetrance but extreme variability of phenotypic expression

•

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

•

en:more common in females

•

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

•

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

•

en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers

•

en:bimodal onset in early childhood (median 5 years) and young adulthood (21 to 30 years)

•

en:bilateral involvement in 10% of cases

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

•

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

•

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

•

en:age at onset 15 to 25 years

•

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

•

en:cataracts may be subclinical in some patients

•

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

•

en:symptoms precipitated by sudden movements

•

en:scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities

•

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

•

en:precipitating factors - ingestion of wheat gluten, rye, and/or barley

•

en:onset between 34 and 51 years of age

•

en:seizures precipitated by fatigue or alcohol

•

en:nova scotian variant (type d) is considered a genetic isolate of npc1 and is associated with a mutation in the npc1 gene (607623.0004)

•

en:mode of inheritance is unclear

•

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

•

en:genetic heterogeneity (see hht1, 187300)

•

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

•

en:female predominance (4:1)

•

en:mother who carries the mutation is clinically unaffected

•

en:episodes of fatigue or weakness (in some patients)

•

en:no family history, de novo mutations

•

•

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

•

en:neurologic symptoms may develop decades later

•

en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development

•

en:onset usually by age 2 years

•

en:onset in first decade

•

en:onset late childhood

•

en:patients often nonambulatory by the mid-twenties

•

en:phenotypic similarities to angelman syndrome (105830)

•

en:hand involvement improves with age

•

en:increased prevalence in northern finland (7.3/100,000)

•

en:apparent in newborn at birth

•

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

•

en:favorable response to ephedrine treatment

•

en:facial palsy often transient in infancy

•

•

en:death in infancy

•

en:death about 20 years after symptom onset

•

en:congenital onset or onset before 2 years (prelingual)

•

en:complementation group b (represented by single atypical patient)

•

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

•

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

•

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

•

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

•

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

•

en:reported in individuals of sephardic jewish ancestry

•

en:evidence of incomplete penetrance in one family

•

en:sensory loss is rapidly progressive and severe

•

en:laboratory findings are variable

•

en:symptoms typically begin in childhood

•

en:regression in infancy (in some patients)

•

en:recessive inheritance has been reported

•

en:phenotypic overlap with desbuquois dysplasia (251450)

•

en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels

•

en:onset between birth and 3 months of age

•

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

•

en:one large swedish family has been reported (as of april 2012)

•

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

•

en:non-progressive and more severe progressive forms

•

en:n-myc oncogene (164840) amplification is associated with poor prognosis

•

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

•

en:sudden death due to cardiomyopathy

•

en:intrafamilial variability

•

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

•

en:incidence is less than 1 in 70,000 births

•

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

•

en:aggressive malignancies

•

en:allelic disorder is brugada syndrome (601144)

•

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

•

en:average onset 6-10 months (range 3-24)

•

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

•

en:two patients without cardiomyopathy or cataracts have been reported

•

en:flares triggered by viral infection, overexertion, stress

•

en:four cases have been reported, all female

•

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

•

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

•

en:some patients have no manifestations

•

en:some patients require cardiac transplantation

•

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

•

en:cardiac arrest and sudden death may occur, even in early childhood

•

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

•

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

•

en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal

•

en:service comment 72:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset

•

en:percentages based on review of 51 published cases (pmid 24891339)

•

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

•

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

•

en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life

•

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

•

en:onset before age 40 years

•

en:normal ability to tolerate heat

•

en:neonatal or infant death

•

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

•

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

•

en:death in the first decade, usually from liver failure

•

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

•

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

•

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

•

en:death in the fifth or sixth decade

•

en:childhood onset has been reported

•

en:many patients die by 1-3 years of age

•

en:death occurs 5 to 10 years after onset

•

en:onset in adolescence

•

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

•

en:variable severity and progression

•

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

•

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

•

en:symptoms usually last 30-60 minutes

•

en:some patients may present with myopathic features

•

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

•

en:severe clinical course

•

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

•

en:onset usually at 2 to 6 months of age

•

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

•

en:variable expressivity in families

•

en:occurs most often in developing countries in tropical regions

•

en:genetic heterogeneity (see 609192)

•

en:no neurologic sequelae

•

en:female carriers may have subtle manifestations

•

en:food related behavioral problems include excessive appetite and obsession with eating

•

en:four patients have been reported

•

en:genetic heterogeneity, some patients not linked to fgfr3

•

en:female carriers may develop mild hearing loss as adults

•

en:heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified

•

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

•

en:lifelong occurrence

•

en:may occur cormorbidly with poland syndrome (173800)

•

en:mean age at onset 66.8 years (range 47-77)

•

en:increased frequency in the charlevoix and saguenat-lac-st-jean regions of quebec, canada (1 in 2,117 live births, carrier rate 1 in 23)

•

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

•

en:survival to 5-15 years of age

•

en:subtle facial phenotype compared to other types of hpe

•

en:some patients respond to acetazolamide

•

en:seizure onset after 3 months

•

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

•

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

•

en:presenting symptoms in the upper body

•

en:prenatal or perinatal lethality in hemizygous males

•

en:onset in the first few months of life patients may need lifelong total parenteral nutrition

•

en:genetic heterogeneity, see aprm2 (610422)

•

en:incidence of 1 per 10,000 births in japan

•

en:good response to steroid treatment

•

en:genetic heterogeneity, see spg3a (182600)

•

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

•

en:female preponderance

•

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

•

en:death occurs 10 to 20 years after onset

•

en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003)

•

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

•

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

•

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

•

en:described in 6 japanese families

•

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

•

en:two families reported (last curated august 2014)

•

en:mean age at onset is 13 years (range 6 to 43)

•

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

•

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

•

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

•

en:treatment with betaine, especially for pyridoxine nonresponders

•

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

•

en:see also x-linked leigh syndrome (312170)

•

en:present in infancy in all affected individuals

•

en:onset in first weeks to months of life

•

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

•

en:reduced zinc in affected mother's breast milk is unresponsive to oral zinc supplementation

•

en:intrafamilial variability in degree of nail involvement

•

en:genetic heterogeneity (see feb1 121210)

•

en:five patients have been reported (as of 8/2011)

•

en:early death without bone marrow transplantation

•

en:distinctive and stereotyped sequence of events

•

en:childhood onset (average 4 to 6 years)

•

en:all reported cases have occurred de novo

•

en:affected patients have various combinations of the main clinical features

•

en:about 25% of cases due to new mutations

•

en:global developmental delay

•

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

•

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

•

en:muscle symptoms precede cardiac symptoms

•

en:occurs more frequently in females

•

en:one family from punjab, india has been reported (last curated august 2014)

•

en:onset age 14-28 years

•

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

•

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

•

en:similar to infantile neuroaxonal dystrophy (inad, 256600)

•

en:some features may be variable

•

en:some patients do not develop stroke

•

en:may result in sudden death

•

en:mean age of onset 30 years

•

en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity

•

en:marked favorable response to l-dopa treatment

•

en:male-to-female ratio 3 to 1

•

en:infants show normal size and appearance

•

en:increased frequency in ashkenazi jewish population (1/100 are carriers)

•

en:hyperthermia in early childhood

•

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

•

en:congenital - over 2,000 repeats

•

en:average age at onset 31 years (range 7 to 54)

•

en:antibodies can develop after pregnancy or transfusion

•

en:allelic to naxos disease (601214)

•

en:allelic to acrocapitofemoral dysplasia (607778)

•

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

•

en:some patients never gain ambulation or become wheelchair-bound

•

en:heterozygotes are not affected

•

en:variable age of onset (range 13 to 67 years, median 48 years)

•

en:normal development between episodes

•

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

•

en:variable age of onset (childhood to adulthood)

•

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

•

en:significant clinical overlap with sotos syndrome (117550)

•

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

•

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

•

en:onset of lipodystrophy later in childhood

•

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

•

en:onset of disease around 10 years of age

•

en:onset in adolescence or adulthood has been reported

•

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

•

en:occurs most often among black africans

•

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

•

en:most patients become wheelchair-bound in adolescence

•

en:childhood onset may occur

•

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

•

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

•

en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes

•

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

•

en:based on report of 2 sibs in 2008

•

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

•

en:loss of independent ambulation (in 2 of 3 patients)

•

en:exacerbations during infection

•

en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities

•

en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity

•

en:elevated body temperatures to 42 degrees celsius

•

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

•

en:onset <30 months

•

en:onset of gaze palsy at birth

•

en:onset of symptoms at 2-4 months

•

en:seizures and dystonia peak during childhood

•

en:onset of symptoms less than one year

•

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

•

en:seizures are usually intractable

•

en:no increased fragility of hair

•

en:seven patients reported (as of march 2011)

•

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

•

en:death can occur in infancy

•

en:milder expression in female heterozygotes

•

en:higher than expected incidence in identical twins

•

en:green jaundice occurs only in the context of liver failure or obstructive cholestasis

•

en:genetic heterogeneity, see spg5a (270800) for overview of recessive spgs

•

en:episodes last 2 days to 1 week

•

en:die at birth or shortly after birth

•

en:childhood onset (range birth to 12 years)

•

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

•

en:allelic to bardet-biedl syndrome 6 (209900)

•

en:(2) intermittent

•

en:wheelchair-bound after 2 decades of disease onset

•

en:variable severity of brain malformations

•

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

•

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

•

en:one patient has been reported

•

en:associated with increased paternal age

•

en:variable abnormalities

•

en:three affected sibs have been reported

•

en:some patients have an attenuated phenotype

•

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

•

en:seizures are refractory to treatment

•

en:prevalence of 1 in 1,429 in tanzania

•

en:onset of symptoms 2-12 months

•

en:onset in teens has been reported

•

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

•

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

•

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

•

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

•

en:mesomelia becomes more evident with age

•

en:autosomal dominant transmission has been rarely reported

•

en:between 2 and 7% of children will develop afebrile seizure disorders later in life

•

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

•

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

•

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

•

en:majority are isolated cases

•

en:most cases are responsive to steroids

•

en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy

•

en:odor of 'sweaty feet'

•

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

•

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

•

en:onset of symptoms in fifth decade

•

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

•

en:onset usually in second decade

•

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

•

en:onset of symptoms usually between 12-15 years

•

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

•

en:onset of optic neuropathy is usually in early adulthood

•

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

•

en:onset of myoclonus later in childhood

•

en:onset of mental impairment in early childhood

•

en:onset of dysmorphic features and developmental delay in infancy

•

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

•

en:pathogenic alleles contain 75-11,000 repeats

•

en:part of 'dent disease complex'

•

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

•

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

•

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

•

en:progressive disease

•

en:prevalence of sleep terrors less than 1% in adults

•

en:prevalence of sleepwalking up to 26% in childhood

•

en:prevalence of 1 in 150,000

•

en:presentation in childhood includes waddling gait and knee pain/stiffness

•

en:presentation after 6 months

•

en:possibly x-linked recessive inheritance

•

en:not all patients have skeletal muscle symptoms or mental retardation

•

en:pneumocytosis carinii infection (12 to 42%)

•

en:plantar contractures become apparent with onset of ambulation

•

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

•

en:phenotype is classically defined as aplasia cutis and transverse limb defects

•

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

•

en:patients may show both optic neuropathy and dystonia or only 1 disorder

•

en:onset of calf hypotrophy may occur earlier

•

en:onset before age 20

•

en:onset of arthritis in early childhood

•

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

•

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

•

en:one family with 3 affected males has been reported (as of october 2011)

•

en:one family reported (last curated november 2013)

•

en:one family reported (last curated may 2013)

•

en:one family reported (as of november 2011)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:nphp shows autosomal recessive inheritance

•

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

•

en:pulsatile headache lasts hours to days

•

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

•

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

•

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

•

en:onset in childhood (3 to 10 years)

•

en:onset in late twenties

•

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

•

en:onset in first or second decades

•

en:onset in females ranges from third to seventh decade

•

en:onset in early infancy

•

en:onset in childhood or as young adult

•

en:onset beyond the second year of life

•

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

•

en:onset between 6 and 15 years

•

en:onset between 28 and 42 years

•

en:onset at age 5 years

•

en:onset around age 2 years

•

en:onset 5-30 years

•

en:one third of patients represent new mutations

•

en:one patient reported (last curated november 2013)

•

en:progressive neurologic deterioration if untreated

•

en:thin, fine hair described in few individuals

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty

•

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

•

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

•

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

•

en:tremor may be elicited by movement or postural maintenance

•

en:treatment with oral coenzyme q may ameliorate symptoms

•

en:treatment with bh4 is effective

•

en:three girls from 2 unrelated families have been reported (last curated june 2014)

•

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

•

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

•

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

•

en:unusual skill with jigsaw puzzle

•

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

•

en:variable age at onset, infancy to adulthood

•

en:variable age at onset, but usually in childhood

•

en:variable age at diagnosis

•

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

•

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

•

en:uniparental disomy

•

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

•

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

•

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

•

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

•

en:type 3: craniosynostosis, early demise, sporadic

•

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

•

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

•

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

•

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

•

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

•

en:reduced life expectancy

•

en:seizures may remit with age (in some patients)

•

en:signs and symptoms depend on tumor location and activity

•

en:short umbilical cord

•

en:severe infantile cases usually die by 6 months

•

en:severe epilepsy may lead to early death

•

en:severe ambulatory restriction

•

en:seventy percent of cases are stillborn

•

en:seizures are responsive to pyridoxine treatment

•

en:skin lesions are fully penetrant by second decade

•

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

•

en:see also x-linked edmd (310300)

•

en:see also oca1a (203100)

•

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

•

en:see also benign neonatal epilepsy (ebn1, 121200)

•

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

•

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

•

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

•

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

•

en:symptoms usually induced only by strenuous exercise

•

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

•

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

•

en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation

•

en:symptoms occur only during sleep

•

en:symptoms may decrease after age 30 years

•

en:symptoms are often responsive to alcohol

•

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

•

en:spasticity occurs before parkinsonism

•

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

•

en:some patients show improvement in muscle power in the teenage years

•

en:some patients may have isolated cardiac involvement

•

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

•

en:some patients become wheelchair-bound

•

en:some patients are asymptomatic and detected only by newborn screening

•

en:some more severely affected patients may die in infancy

•

en:some heterozygous carriers may have mild manifestations

•

en:normal neonatal course

•

en:infantile form has onset within first 6 months of life

•

en:normal female secondary sexual characteristics

•

en:delta-f508 present in 70% of alleles

•

en:distinct disorder from myasthenia gravis (mg, 254200)

•

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

•

en:disease is life-threatening if untreated

•

en:diarrhea persists even with vigorous nursing

•

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

•

en:described in single afrikaner family

•

en:decreased life expectancy

•

en:earlier onset associated with increased severity

•

en:death usually in infancy or early childhood

•

en:death in childhood may occur due to infection

•

en:death between 2 years of age and young adulthood

•

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

•

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

•

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

•

en:dysmorphic facial features may not be present

•

en:early death in males

•

en:common in south african whites

•

en:features occur episodically

•

en:founder effect in irish traveler population

•

en:food intolerance

•

en:flunarizine treatment may be beneficial

•

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

•

en:fever, muscle cramping, and poor feeding remit by age 2 years

•

en:female to male ratio ranges from 2:1 to 4:1

•

en:favorable response to l-dopa

•

en:early death without kidney transplant

•

en:favorable response to 3,4-diaminopyridine

•

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

•

en:estimated mutation carrier rate of 1 in 350

•

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

•

en:episodes brought on by fasting or infection

•

en:early onset of peripheral neuropathy (mean 2.1 years, range 1 to 10 years)

•

en:early lethality

•

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

•

en:clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood

•

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

•

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

•

en:associated with hemodialysis

•

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

•

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

•

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

•

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

•

en:all reported cases have de novo mutations (last curated october 2014)

•

en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200)

•

en:autosomal recessive inheritance has been reported in 1 case

•

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

•

en:allelic disorder to potassium-aggravated myotonia (608390)

•

en:allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, 610217)

•

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

•

en:allelic disorder to intrahepatic cholestasis of pregnancy (icp, 147480)

•

en:variable clinical severity

•

en:associated with increasing age

•

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

•

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

•

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

•

en:children rarely develop the disorder

•

en:characteristic face and body by age 2 years

•

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

•

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

•

en:caused by constitutive activation of the avpr2 receptor

•

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

•

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

•

en:average age at death is 37 years

•

en:cardiac involvement occurs between 5 and 12 years

•

en:candidiasis is usually the first symptom

•

en:breech position

•

en:both heterozygous and homozygous mutations have been reported

•

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

•

en:benign, asymptomatic defect

•

en:average onset 6 months (range 3-9)

•

en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014)

•

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

•

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

•

en:majority cases are sporadic

•

en:may be fatal

•

en:marked variability in the deletion size

•

en:many adults with typical form remain ambulatory

•

en:males are more severely affected than females

•

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

•

en:majority of children die before age 2

•

en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679)

•

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

•

en:lower limbs more severely affected

•

en:long duration

•

en:liveborn often die within first week of life

•

en:lesions become more prominent with sun exposure

•

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

•

en:joint symptoms begin in third or fourth decade

•

en:may occur in adults (also in pregnancy)

•

en:mean age at onset 45 years

•

en:intermittent exacerbations

•

en:motor impairment more significant than sensory impairment

•

en:neurologic features occur in adulthood

•

en:neonatal severe hyperparathyroidism in homozygotes (239200)

•

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

•

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

•

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

•

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

•

en:most patients die in infancy

•

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

•

en:most affected males die of respiratory failure within the first months of life

•

en:mosaic distribution of lesions

•

en:mliii is a heterogeneous disorder

•

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

•

en:middle age onset

•

en:median age of onset of pancytopenia - 10 years (range 1-32 years)

•

en:median age of diagnosis - 15 years

•

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

•

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

•

en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347)

•

en:genetic heterogeneity (see bscl2, 269700)

•

en:hands clenched at birth but loosen in infancy

•

en:hair regrowth may occur later in life

•

en:genetic heterogeneity (see lqt1 192500)

•

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

•

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

•

en:genetic heterogeneity (see cms1a1, 605809)

•

en:genetic heterogeneity (see bafme1, 601068)

•

en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years

•

en:genetic heterogeneity (see 606215)

•

en:genetic heterogeneity (see 304800)

•

en:genetic heterogeneity (see 259700)

•

en:genetic heterogeneity (see 192600)

•

en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078)

•

en:genetic heterogeneity, see bos2 (120502) and bos3 (608389)

•

en:hearing loss and ocular findings are variable

•

en:hepatomegaly improves with age and disappears around puberty

•

en:inflammatory arthritis may develop in 30% of patients

•

en:incidence of 1 in 300,000

•

en:increased risk of early death

•

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

•

en:incomplete penetrance with 45 to 51 repeats

•

en:incomplete penetrance of optic atrophy

•

en:incomplete penetrance

•

en:incidence of 1 in 57,000

•

en:incidence of 0.51 per million in france

•

en:heterozygotes have mild, transient hypothyroidism in infancy

•

en:improvement with age

•

en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth

•

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

•

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

•

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

•

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

•

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

•

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

•

en:patients may have recurrent infections due to immunosuppressive therapy

•

en:variable disease severity

•

en:onset of hypoglycemia and hyperinsulinism in the neonatal period

•

en:onset usually in late adolescence or early adulthood (range 15 to 45 years)

•

en:onset usually in adulthood although childhood onset has been reported

•

en:onset usually in adolescence

•

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

•

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

•

en:onset of optic atrophy in infancy or early childhood

•

en:onset of fracture usually when child begins to walk

•

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

•

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

•

en:onset of deafness and diabetes in adulthood

•

en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement

•

en:onset of alopecia in infancy

•

en:onset late childhood (8 to 14 years)

•

en:onset in utero or in infancy

•

en:overlapping features of digeorge syndrome

•

en:patients may become wheelchair-bound after about 12 years

•

en:onset in the second or third decade of life

•

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

•

en:protracted disease course

•

en:progressive sclerosis with age

•

en:progressive disorder regarding both neurologic and renal symptoms

•

en:progressive clinical course with onset in childhood

•

en:prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada

•

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

•

en:predisposition to neoplasia

•

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

•

en:phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, 600882)

•

en:persistent bleeding after injury or surgery

•

en:perinatal lethal

•

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

•

en:patients with later onset have better prognosis

•

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

•

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

•

en:onset in the sixth or seventh decades

•

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

•

en:rapid disease progression

•

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

•

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

•

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

•

en:one family with 3 affected girls has been reported (as of october 2011)

•

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

•

en:one family has been reported

•

en:one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013)

•

en:often lethal in infancy

•

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

•

en:occurs in ~3% pregnancies in western populations

•

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

•

en:no situs inversus

•

en:no male-to-male transmission

•

en:normal development until onset of seizures

•

en:normal birth (finding)

•

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

•

en:one pakistani reported (last curated november 2012)

•

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

•

en:onset between 1-3 years

•

en:onset in childhood or adolescence in most patients

•

en:onset in childhood (range 0.5 to 7 years)

•

en:onset in childhood (5 to 10 years)

•

en:onset between 8 and 30 years

•

en:onset between 5 to 28 years of age

•

en:onset between 15 and 27 years

•

en:onset before age 5 years

•

en:one patient had onset at age 4 months after normal development

•

en:onset before 18 months of age

•

en:onset at 5-24 months

•

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

•

en:onset 13-15 years

•

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

•

en:one patient showed improvement and was thriving at 46 months of age

•

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

•

en:pyogenic arthritis, pyoderma gangrenosum and acne

•

en:rarely produces clinical jaundice

•

en:new skin lesions stop appearing before adolescence

•

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

•

en:two unrelated patients with de novo mutations have been reported (last curated november 2013)

•

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

•

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

•

en:two unrelated families have been reported, 1 showing autosomal dominant inheritance and 1 showing autosomal recessive inheritance (last curated february 2014)

•

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

•

en:two probands have been reported

•

en:two of 3 patients became wheelchair-bound

•

en:type 2b is characterized by increased affinity for platelet glycoprotein 1b

•

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

•

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

•

en:two families described (last curated november 2013)

•

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

•

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

•

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

•

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

•

en:type ii sialidosis - severe disease, dysmorphic features, variable onset (congenital or hydropic (in utero), infantile (1-12 months), juvenile (2-20 years))

•

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

•

en:variable manifestation of features

•

en:combined oxidative phosphorylation deficiency 11

•

en:women may be mildly affected

•

en:waddling gait, often presenting sign in second year

•

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

•

en:variable presentation

•

en:variable phenotype, particularly with regard to cortical malformations

•

en:variable age of onset (range 1 to 30 years)

•

en:ultrasound detection in second trimester of pregnancy

•

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

•

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

•

en:variable age at onset (childhood to age 50)

•

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

•

en:up to 50% of patients may have various additional congenital anomalies

•

en:upper limb involvement occur later

•

en:uncommon disorder

•

en:treatment with folinic acid offers some benefit for anemia and seizure control

•

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

•

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

•

en:see also familial developmental dysphasia (600117)

•

en:seizures become nearly continuous

•

en:seizures are sensitive to hyperventilation

•

en:seizures are refractory

•

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

•

en:see also the lethal neonatal (608836) and infantile (600649) forms

•

en:see also park6 (605909), park7 (606324), and park9 (606693) for autosomal recessive disorders with overlapping phenotypes

•

en:see also dent disease 2 (300555)

•

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

•

en:see also crigler-najjar syndrome type i (218800) which is also due to mutations in ugt1 (191740)

•

en:see 608358 for an autosomal dominant form

•

en:see (277600) for a phenotypically similar autosomal recessive form

•

en:responsive to thiazide diuretics

•

en:reported in individuals of amish or mennonite descent

•

en:reported cases all sporadic

•

en:short limbs become more apparent during childhood

•

en:skeletal abnormalities are variable

•

en:three types of cystinosis are recognized

•

en:some patients require insulin for treatment

•

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

•

en:symptoms precipitated by exercise and excitement

•

en:symptoms ameliorate with age

•

en:spinal involvement improves with age

•

en:some patients with 2 opa1 mutations have a more severe phenotype with earlier onset

•

en:some patients show a favorable response to sulfonylurea treatment

•

en:some patients never achieve walking or running

•

en:slowly progressive or nonprogressive course

•

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

•

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 be clinically asymptomatic

•

en:some patients may benefit from coenzyme q10 treatment

•

en:some heterozygous cpt2 mutation carriers may be symptomatic

•

en:some features are variably expressed

•

en:some carrier females have mild features

•

en:normal alleles contain 15 to 50 repeats

•

en:nails appear normal at birth, with dystrophic changes developing within the first decade of life

•

en:variable duration (minutes to hours)

•

en:autosomal recessive inheritance can occur

•

en:blistering becomes confined to the palms and soles with age

•

en:based on report of 5 brothers of arab-moslem descent (last curated february 2015)

•

en:based on one finnish family

•

en:average age of onset 57 years

•

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

•

en:autosomal recessive inheritance has been described in 2 families

•

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

•

en:cayler cardiofacial syndrome was classically described as hypoplasia of the depressor anguli oris muscle and congenital heart defects

•

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

•

en:associated with fragile x syndrome (309550)

•

en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia

•

en:apparent at birth

•

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

•

en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010)

•

en:c10orf2 mutations account for approximately 35% of all peo cases

•

en:classic lesch-nyhan, < 1.5% hypoxanthine phosphoribosyltransferase (hprt) activity

•

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

•

en:death due to rapidly progressive pulmonary fibrosis in infancy

•

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

•

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

•

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

•

en:death often by age 2 years

•

en:death in fourth to fifth decade

•

en:death in first months of life

•

en:death by age 6-7 years

•

en:clinically unaffected heterozygotes may show changes on electroretinography

•

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

•

en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above)

•

en:complementation group c (variant mliii, 252605)

•

en:common in japan and other asian populations

•

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

•

en:clinical manifestation of some forms of bardet-biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus, or triallelic inheritance

•

en:clinical features based on 1 reported family (last curated august 2013)

•

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

•

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

•

en:early lethality in most cases

•

en:performing laboratory:addr:pt:facility:nom

•

en:blood glucose monitor with integrated voice synthesizer

•

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

•

en:service comment 42:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:service comment 08:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 06: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:21 patients from 17 kindreds reported (as of february 2012)

•

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

•

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

•

en:virtually all patients with this condition are female

•

en:vhl type 2b - renal carcinoma and pheochromocytoma

•

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

•

en:variable phenotype depending on residual enzyme activity

•

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

•

en:85-90% with manifestations in first months of life

•

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

•

en:allelic disorders with overlapping phenotypes include dejerine-sottas syndrome (dss, 145900), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and cmt with deafness (118300)

•

en:allelic disorder to primary erythermalgia (133020)

•

en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700)

•

en:allelic disorder to distal spinal muscular atrophy type v (dsmav, 600794), but distinguished by more severe distal sensory involvement

•

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

•

en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145)

•

en:allelic disorder to autosomal dominant spg13 (605280)

•

en:age of onset 28 to 70 years

•

en:abnormal transferrin pattern tends to improve with age

•

en:age of onset 20-65 years

•

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

•

en:age at diagnosis 2-4 months

•

en:adult onset (range 14 to 70 years)

•

en:adult onset (25-45 years)

•

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

•

en:about 50% of mutation carriers are asymptomatic

•

en:early exhaustion on exertion

•

en:end-stage renal failure may occur

•

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

•

en:less than 20% have onset at 18 years of age or less (dominant and recessive)

•

en:many cases due to de novo mutation

•

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

•

en:male patients have more severe disease than female patients

•

en:majority of wilms tumors are sporadic

•

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

•

en:luton and torrance type differentiated based on histologic findings in cartilage

•

en:lesions continue to grow until epiphyseal plate closure

•

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

•

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

•

en:intracellular accumulation of material may not always be apparent

•

en:increased risk of miscarriage

•

en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany

•

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

•

en:incomplete penetance of some features

•

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

•

en:mean age at onset 32 years

•

en:incidence in japan is 1 in 57,000

•

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

•

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

•

en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees

•

en:multiorgan failure may result from hs

•

en:movements worsened by anxiety

•

en:motor fluctuations

•

en:most remit by 2 months

•

en:most frequently affected joints - hands (98%) and feet (88%)

•

en:mean age at onset 57-60 years

•

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

•

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

•

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

•

en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy

•

en:median age at diagnosis, 59 years

•

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

•

en:mean age of diagnosis 40 years

•

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

•

en:incidence approximately 2-3/10,000 newborns

•

en:epiphyseal stippling is gone by 8 months of age

•

en:four types of cgd with basically identical clinical phenotypes

•

en:genetic heterogeneity (see 161800)

•

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

•

en:genetic heterogeneity, see spg5a (270800)

•

en:genetic heterogeneity, see cild1 (244400)

•

en:genetic heterogeneity, see ags2 (610181), ags3 (610329), and ags4 (610333)

•

en:generalized dystonia in some cases

•

en:females more severely affected than males

•

en:genetic heterogeneity (see bscl1, 608594)

•

en:females are more often affected

•

en:feet are unaffected

•

en:favorable response to anticholinesterase medication

•

en:exacerbation during febrile episodes

•

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

•

•

en:genetic heterogeneity (see 191100)

•

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

•

en:incidence 7-15% in pacific island populations

•

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

•

en:incidence 2-5% of north american children

•

en:incidence 1 in 20,000

•

en:imprinting at 11p15.5

•

en:hypertension is presenting sign

•

en:hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin

•

en:hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup

•

en:high risk of death in infancy due to cardiac failure

•

en:genetic heterogeneity of axonal cmt (see cmt2a 118210)

•

en:high prevalence in holguin province of cuba

•

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

•

en:heterozygotes are usually asymptomatic

•

en:hearing impairment may improve with age

•

en:green color resolves if cholestasis is treated

•

en:gradual progression of hearing loss

•

en:gene frequency in northwest puerto rico 1 in 18

•

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

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6945846 • caches: c1=8 c2=1003 c3=1

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