Diko : en:precipitated by fever

en:precipitated by fever

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Langue:anglais

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source:wiki

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umls:C4012637

Associations d'idées

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1000

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

•

en:hip replacement in early adulthood

•

en:onset usually in young adulthood

•

en:onset of cough in early adulthood

•

en:one report of brother and sister from nonconsanguineous parents

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

•

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

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

•

en:murcs association

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en:majority of patients are ambulatory

•

en:inheritance may be x-linked dominant

•

en:incidence of 1 in 100 in some local nordic areas

•

en:genetic heterogeneity (see rmd1, 600332)

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en:seizures recur in 33% of patients

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en:fatigue

•

en:death usually within first year of life

•

en:death in utero or in the perinatal period

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en:complete manifestation in males

•

en:clonidine can alleviate hyperhidrosis

•

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

•

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

•

en:autosomal dominant inheritance has been reported in a single family

•

en:age at diagnosis 9 +/- 6 years

•

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

•

en:variable presentation and manifestations

•

en:risk of affected offspring in maternal translocation carrier - 4-10%

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en:mean age of onset 20.6 years

•

en:some patients require cardiac transplantation

•

en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births

•

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

•

en:splenectomy increases thrombotic risk in these patients

•

en:some patients may show response to immunosuppressive agents

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en:sudden death secondary to impaction of medulla oblongata

•

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

•

en:onset before age 2 years

•

en:night blindness from early childhood

•

en:mean age at onset 45 years

•

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

•

en:increased frequency in finland

•

en:incidence of 1 in 10,000 to 1 in 20,000

•

en:paternal age effect

•

en:frequency increases with advancing age

•

en:age of onset, 6-20 years

•

en:first described in acadian population of louisiana

•

en:type i is infantile-onset, severe

•

en:adults may be asymptomatic

•

en:affected males are somatic mosaic for mutations

•

en:virtually all patients with this condition are female

•

en:age of onset 1 to 2 years

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en:brain mri abnormalities show improvement with time

•

en:death usually by age 10 years

•

en:evidence of systemic iron overload seen in 1 family

•

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

•

en:later onset has been rarely reported (up to age 68 years)

•

en:some patients may become wheelchair-bound

•

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

•

en:patients are severely disabled as adults

•

en:onset in first or second decade (range 4 to 13 years)

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en:onset in childhood or second decade

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en:lethal in males

•

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

•

en:four individual patients and 1 saudi family have been reported (as of february 2012)

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

•

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

•

en:death in infancy (1 patient)

•

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

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en:characterized by calf weakness at onset

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en:affected individuals remain ambulatory in old age

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

•

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

•

en:variable age at onset (range 25 to 78 years)

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

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

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en:reduced exercise tolerance

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

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

•

en:this specific disorder has been described in 1 family (ke)

•

en:some patients show infantile onset

•

en:some patients are clinically unaffected.

•

en:seizures are refractory

•

en:relationship of rare neuropsychiatric signs to histidinemia is unclear

•

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

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en:onset of symptoms in childhood with stiff, painful joints

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en:autosomal recessive inheritance is most common

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en:onset of chronic progressive polyneuropathy in late childhood

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en:normal female secondary sexual characteristics

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en:more common in men than women

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

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en:death usually in infancy due to respiratory failure

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

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en:onset of joint contractures later in life

•

en:normal birth (finding)

•

en:onset between 2 and 4 years of age

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en:onset of cholestatic jaundice 2-4 weeks of age and resolved during childhood

•

en:onset of renal dysfunction in early childhood

•

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

•

en:patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable

•

en:patients often require implantation of a pacemaker

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en:the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract

•

en:phenotypic variability, intrafamilial

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en:presenting symptoms in the upper body

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en:seizures, recurrent, refractory

•

en:successful treatment with oral isotretinoin

•

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

•

en:type 1 porencephaly is usually unilateral and results from destructive lesions

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en:type a characterized by progressive myoclonic epilepsy

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en:may be lethal in the neonatal period

•

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

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en:neurologic features have been diagnosed in ~30% of cases

•

en:association between hla class ii alleles and presence of autoantibodies

•

en:increased frequency in eastern pennsylvania amish

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

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

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en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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

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en:acute attacks lasting 24-48 hours

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en:adult onset (range 40 to 60 years)

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en:allelic disorders with clinical overlap include dss and cmt1b (118200)

•

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

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en:associated with hemodialysis

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en:high frequency in equatorial africa

•

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

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en:based on 1 reported family (last curated december 2013)

•

en:blistering tends to improve with age

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

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en:death in untreated children

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en:death often secondary to pneumonia or congestive heart failure

•

en:genetic heterogeneity, see ekd1 (128200)

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en:genetic heterogeneity (see hht1, 187300)

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en:date of autopsy:date:pt:^patient:qn

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en:onset in the perinatal period

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en:age of onset from 18 to 45 years

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en:one large consanguineous arab muslim family has been reported (as of september 2011)

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

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en:late adult onset (after age 55 years)

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en:mean age at onset 5 years

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en:most cases sporadic

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en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes

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en:mousy odor

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en:no opportunistic infections

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

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en:hip joint replacement often necessary

•

en:onset at 4 to 7 years

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

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en:onset of liver involvement in infancy

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en:painful cramping following ischemic exercise test

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en:poor response to levodopa treatment

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en:symptoms develop immediately after birth

•

en:temperature instability

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en:variable age of onset (range 1-40 years)

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en:increased frequency in the finnish population

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

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en:high incidence of e. coli sepsis in untreated neonates

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en:congenital disorders

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en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677)

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

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en:at birth, there is generalized red scaly skin

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en:autonomic dysfunction usually precedes obvious neurologic deterioration

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

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en:can be asymptomatic

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

•

en:both recessive and dominant inheritance have been reported

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en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000)

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en:deposits may recur in graft after corneal transplantation

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en:described in 3 unrelated infants (last curated january 2013)

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en:early death due to sepsis

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en:favorable response to sodium chloride treatment

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

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en:death usually in the perinatal period

•

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

•

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

•

en:majority of patients die in neonatal period secondary to respiratory insufficiency

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en:mean age of onset 35-40 years

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en:most affected infants die shortly after birth from respiratory failure

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en:motor fluctuations

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en:onset usually at 2 to 6 months of age

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en:onset at 5-24 months

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en:onset before 18 months of age

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en:onset in early childhood (infancy to age 7 years)

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en:incidence of 1/50,000 births

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

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

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en:broad-based gait

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en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma)

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en:genetic heterogeneity (see 191100)

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

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en:exacerbation of symptoms during or after pregnancy

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

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en:death may occur in early infancy

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en:death in utero (30%)

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

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en:clubfoot is bilateral in most patients

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

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

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en:seizures are provoked by immersion in hot or warm water

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en:rapid disease progression from ages 40 to 50 years

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en:some patients have only ocular involvement or only oral involvement

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en:six patients have been reported (5/18/2011)

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

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en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions

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en:two families reported (last curated february 2013)

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en:symptoms worsen with fatigue and exercise

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en:sudden cardiac death frequent in affected families

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en:wide phenotypic variability

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en:see cmt4a (214400) for autosomal recessive demyelinating forms

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en:pigmented spots appear in infancy through childhood and fade in adulthood

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en:onset of seizures before age 2 years

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en:onset of crises in early childhood

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

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en:most become wheelchair-bound late in life

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en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients

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en:dyskinesias occur in a subset of patients later than seizures (6 to 12 months)

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en:chronic, relapsing condition

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en:ataxia is slowly progressive

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en:allelic to grebe syndrome (200700), brachydactyly, type c (113100), fibular hypoplasia and complex brachydactyly (228900)

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en:(1) infantile nephropathic (219800)

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en:reference lab test name:type:time reported elsewhere:reference lab test:nominal

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en:variable age of onset (range 4 months to 45 years)

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

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en:mild features such as digital clubbing may be apparent in older heterozygotes

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en:prevalence in finland is 1 in 25,000

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en:onset between 3 and 6 months of age

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en:onset of insulin resistance may occur in childhood

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en:onset usually before age 40 years

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

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

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

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

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en:sporadic occurrence is associated with advanced paternal age

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

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

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en:frequent neonatal sudden death

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en:no preceding skin inflammatory stage

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

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en:mild cases show clinical, biochemical, and mri improvement after the second year of life

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en:males are more severely affected

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

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en:episodes last about 1.5 hours

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en:childhood onset

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

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

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

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

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

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en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260)

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en:service comment 40:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:neurologic signs may not be present

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

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en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14

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

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

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

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en:onset around age 2 years

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

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

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

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

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en:most remit by 6 weeks (1-6 months)

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en:juvenile absence epilepsy (jae, 607631)

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en:incidence in finland is 1 in 76,000 births

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en:impaired healing

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en:icelandic families

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en:genetic heterogeneity (see rmd, 606072)

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en:genetic heterogeneity (see madb, 608612)

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en:fat pads become less prominent with time

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en:episodes occur 30 minutes to 3 hours after exposure to cold

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en:lesions become more prominent with sun exposure

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

•

en:onset often in late adolescence

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en:onset usually in first to third decade of life

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en:relapsing-remitting course

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en:allelic to brachydactyly, type a2 (112600)

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en:type 3: craniosynostosis, early demise, sporadic

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en:3 reported cases, 1 pedigree of affected sibs, neither parent affected

•

en:adolescent or adult onset associated with neuropsychiatric symptoms

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en:neonatal sepsis

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en:no abnormalities of hair, teeth, or bones

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

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

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en:medullary thyroid cancer is aggressive and can occur in childhood

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en:may be x-linked

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

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

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en:four cases have been reported, all female

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en:characteristic face and body by age 2 years

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en:aortic dissection may occur in second decade of life

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en:adult onset (range 15 to 53 years)

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en:25% due to mutations in ube3a (601623)

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

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en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769)

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en:spontaneously resolves by 5 to 6 months of age

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en:dysmorphic features are variable

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en:onset of disease after fourth decade of life

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

•

en:usually sporadic

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

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

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en:resembles pseudo-torch syndrome (251290)

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en:patients are prone to impaired thermoregulation

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en:onset usually in third or fourth decade

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en:onset of mental impairment in early childhood

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en:onset of disease before 7 years of age

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

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en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca

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

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

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en:gonadal mosaicism reported

•

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

•

en:high prevalence in charlevoix-saguenay region of northeastern quebec

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

•

en:majority of por deficiency patients have an abs-like phenotype

•

en:many patients recover normally

•

en:may coexist with autoimmune vitiligo or thyroiditis

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en:muscle weakness occurs only in the presence of hyperthyroidism

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

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en:prevalent in the old order amish in the u.s. and in finland

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

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en:phenotypically mild form of joubert syndrome

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en:prevalence of 1 in 1,500

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en:prevalent among patients of asian descent, particularly japanese

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

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en:seasonal variation in severity of skin symptoms reported by some patients

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en:static or slowly progressive

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

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en:treatment with enzyme replacement therapy

•

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

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

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en:onset between 6 and 14 years

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en:onset between birth and 3 months of age

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en:allelic disorder to corticosterone methyloxidase type i deficiency (203400)

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

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en:one 4-generation chinese family has been reported (as of 04/2010)

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en:normal growth and development after 1 year of age

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en:neonatal death

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en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy

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en:marked clinical variability within families

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en:genetic heterogeneity (x-linked form 305100)

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en:generalized dystonia in some cases

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

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en:dermatitis resolves in offspring after zinc supplementation and/or weaning

•

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

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en:allelic disorder to limb-mammary syndrome (lms, 603543)

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en:allelic disorder to charcot-marie-tooth disease type 2d (cmt2d, 601472), but distinguished by less severe distal sensory involvement

•

en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid

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en:vertical eye movement abnormalities appear before horizontal eye movement abnormalities

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

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

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en:onset of sleep terrors between age 4 and 12 years old

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en:affected males show onset of hematuria in first year of life

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en:symptom onset ranges from infancy to adulthood

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en:some patients have milder persistent blistering

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en:some patients have a contiguous gene defect involving both the cyp21a2 (613815) and the tnxb (600985) genes

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

•

en:skeletal abnormalities are variable

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en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia

•

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

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en:phenotype may be influenced by maternal alcohol consumption during pregnancy

•

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

•

en:onset of symptoms usually between 12-15 years

•

en:onset of symptoms in fifth decade

•

en:precipitated by fatigue or alcohol

•

en:onset in the second to fourth decades of life

•

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

•

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

•

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

•

en:onset in early childhood (2-4 years)

•

en:death occurs 5 to 10 years after onset

•

en:death often by age 2 years

•

en:distinctive and stereotyped sequence of events

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en:caused by inborn error in bile acid synthesis

•

en:hearing loss is usually severe by age 20 years

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

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en:incidence - 1/16,000 live births

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en:one consanguineous family of indian descent has been reported (last curated january 2015)

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en:incidence of 1 in 57,000

•

en:normal alleles have 25 to 44 repeats

•

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

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en:onset of lymphedema around puberty

•

en:onset of joint pain in childhood

•

en:onset of end-stage renal disease 15 to 20 years after onset

•

en:onset of choroideremia in second to third decade

•

en:onset in neonatal period or before age 2 years

•

en:onset in second to fourth decade

•

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

•

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

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en:onset in late infancy

•

en:onset in infancy or early childhood

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en:onset in first decades (males)

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en:onset of palmoplantar hyperkeratosis 7-8 years of age

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en:onset of neurologic symptoms often by 30 months

•

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

•

en:onset of seizures in infancy or early childhood

•

en:overall prevalence is between 0.5 and 14 per 100,000 people per year

•

en:pcd is a distinct disorder from premature chromatid separation (pcs, 176430), which occurs in all chromosomes

•

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

•

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

•

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

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en:patients are born with normal head circumference

•

en:overlapping features of digeorge syndrome

•

en:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder

•

en:onset of slowly progressive spastic paraplegia in first or second decade

•

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

•

en:onset usually in third decade of life

•

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

•

en:onset of symptoms usually in adulthood

•

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

•

en:onset of symptoms in second decade of life

•

en:onset in childhood, adolescence, and adulthood

•

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

•

en:onset between 2-5 years

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

•

en:motor symptoms are variable

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en:mucocutaneous immunodeficiency syndrome may be prominent

•

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

•

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

•

en:neurologic signs last hours to days

•

en:non-progressive and more severe progressive forms

•

en:normal development between episodes

•

en:not all nails are affected in some patients

•

en:not responsive to biotin treatment

•

en:no clinical description given for 1 reported patient (last curated december 2013)

•

en:no situs inversus

•

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

•

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

•

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

•

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

•

en:onset at birth or in first days or life

•

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

•

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

•

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

•

en:one family with 2 patients has been reported

•

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

•

en:one german family has been reported (as of september 2009)

•

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

•

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

•

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

•

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

•

en:one patient reported with col3a1 mutation (120180.0020)

•

en:one patient with normal psychomotor development has been reported (last curated december 2012)

•

en:only 46,xy individuals are affected

•

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

•

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

•

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

•

en:poland syndrome can be associated with moebius syndrome (157900)

•

en:torso and upper body remain normal in shape and contour

•

en:sparing of some nails in some individuals

•

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

•

en:subtle facial phenotype compared to other types of hpe

•

en:subtype 3c (231005) comprises cardiovascular calcifications

•

en:sudden death in affected females occurs in the forties

•

en:surgical intervention is not always curative

•

en:symptoms occur only during sleep

•

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

•

en:there are several subtypes

•

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

•

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

•

en:three patients have been described (last curated january 2013)

•

en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood

•

en:two autosomal dominant families have been reported (as of may 2011)

•

en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood

•

en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles

•

en:variable expressivity of each feature

•

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

•

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

•

en:variable age at onset, infancy to adulthood

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:some patients with onset of severe disease in infancy are diagnosed with leber congenital amaurosis, whereas other patients with childhood onset of less severe retinal dystrophy are diagnosed with retinitis pigmentosa

•

en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life

•

en:poor gonadotropin response to gonadotropin releasing hormone (gnrh)

•

en:right side affected greater than left side

•

en:prenatal diagnosis by ultrasound

•

en:prenatal or neonatal onset

•

en:presents at a later stage than sporadic wilms tumor

•

en:prevalence approximately 1 in 4,000 males

•

en:prevalence of 1 in 70,000

•

en:prevalence of in 1 in 8,000

•

en:prevalent in bulgarian gypsies

•

en:prognosis good

•

en:progressive renal disorder

•

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

•

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

•

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

•

en:most patients become wheelchair-bound

•

en:responsive to treatment

•

en:some patients have juvenile-onset myoclonic epilepsy

•

en:seizure severity and frequency tend to improve with age

•

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

•

en:some patients have additional neurologic involvement

•

en:some features may be variable

•

en:skin lesions are fully penetrant by second decade

•

en:short umbilical cord

•

en:short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay

•

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

•

en:most patients have adult onset of symptoms

•

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

•

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

•

en:clinically similar to torsion dystonia-1 (dyt1, 128100)

•

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

•

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

•

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

•

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

•

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

•

en:bilateral involvement in 10% of cases

•

en:both demyelinating and axonal features

•

en:both heterozygous and homozygous mutations have been reported

•

en:both reported cases survived beyond infancy

•

en:cardiomyopathy may develop later in the disease

•

en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations

•

en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities)

•

en:chelation therapy can result in clinical improvement

•

en:chronic course with exacerbations and remissions

•

en:clinical presentation varies from asymptomatic to fulminant course

•

en:autosomal recessive cytochrome b-negative cgd (233690)

•

en:clinical variation

•

en:complete recovery upon treatment of hyperthyroidism

•

en:congenital - over 2,000 repeats

•

en:contiguous gene deletion syndrome (in most patients)

•

en:contiguous gene deletion syndrome of 5q31

•

en:contractures most severe by midadolescence

•

en:death about 20 years after symptom onset

•

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

•

en:death by age 2 years

•

en:death can occur in infancy

•

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

•

en:death in infancy without bone marrow transplantation

•

en:death in neonatal period

•

en:death often before age 2

•

en:autosomal recessive cytochrome b-positive cgd, type i (233700)

•

en:autosomal dominant and autosomal recessive forms

•

en:death usually by 1 year of age

•

en:adult onset (wide range of age)

•

en:variable severity (mild symptoms to severe handicap)

•

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

•

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

•

en:laboratory director name:pn:pt:provider:nom

•

en:length of calorie fast:time:point in time:^patient:quantitative

•

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

•

en:(3) adult nonnephropathic (219750)

•

en:40% patients have associated abnormalities

•

en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis

•

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

•

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

•

en:adult-onset is referred to as small fiber neuropathy

•

en:adult onset (after age 35 years)

•

en:adult onset (range 30 to 50 years)

•

en:age of onset 30 to 60 years

•

en:attacks typically last for minutes

•

en:all cases have been stillborn or immediate neonatal death

•

en:association with autoimmune diseases

•

en:associated with tuberous sclerosis (191100)

•

en:associated with the tau (157140) h1 haplotype

•

en:associated with increasing age

•

en:anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia

•

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

•

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

•

en:age of onset ranges from 1 to 47 years

•

en:allelic to pseudoachondroplasia (177170)

•

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

•

en:allelic to cartilage-hair hypoplasia (250250)

•

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

•

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

•

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

•

en:death often in early infancy

•

en:de novo mutation resulting in haploinsufficiency of eftud2 (603892)

•

en:mean age at onset of migraines is 42 years

•

en:infertility

•

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

•

en:immunodeficiency is progressive

•

en:imprinting at 11p15.5

•

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

•

en:incidence of 1 in 25,000 to 1 in 50,000 newborns

•

en:incidence of 1 in 320,000 births among non-jewish persons

•

en:incidence of 1 in 6,000 males

•

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

•

en:incomplete penetrance (as low as 30% in some cases)

•

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

•

en:increased prevalence in persons of ashkenazi jewish descent

•

en:increased tendency to chromosomal nondisjunction

•

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

•

en:infantile form accounts for 90% of cases

•

en:intelligence is normal

•

en:highly variable phenotype, ranging from asymptomatic to death by age 3 years

•

en:loss of tumor suppressor gene

•

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

•

en:may be fatal in infancy

•

en:may be asymptomatic

•

en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia

•

en:majority of cases in japan

•

en:majority of cases (95%) are sporadic

•

en:liver size returns to normal after 3 months to 3 years

•

en:intrafamilial variability

•

en:limited clinical information provided on patients with bbs7 mutations

•

en:likely allelic to sc phocomelia syndrome (269000)

•

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

•

en:left sided involvement occurs more frequently

•

en:late infantile form has onset between 19 months and 4 years

•

en:joint dislocations become less frequent with age

•

en:high incidence among old order amish

•

en:highly variable dysmorphic features

•

en:diagnosis occurs between 23 and 33 weeks' gestation

•

en:favorable response to corticosteroid treatment (1 family)

•

en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes

•

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

•

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

•

en:duplication of lmnb1 is sufficient for the disorder, although patients may also have larger duplications

•

en:dysmorphic facial features may not be present

•

en:early death in patients with cloverleaf skull

•

en:encephalopathic episodes associated with increased serum and csf lactate

•

en:end-stage renal failure in first decade

•

en:end-stage renal failure may occur

•

en:episodic

•

en:extremely variable phenotype

•

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

•

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

•

en:favorable response to alcohol in about 50%

•

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

•

en:heterozygous mutation carriers may show mild symptoms

•

en:genetic heterogeneity, see spg5a (270800)

•

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

•

en:heterozygotes are usually asymptomatic

•

en:hearing loss is pre- or perilingual in onset

•

en:genetic heterogeneity (see rls2, 608831)

•

en:genetic heterogeneity (see mcc2 deficiency 210210)

•

en:genetic heterogeneity (see, e.g., cmtdib 606482, cmtdid 607791)

•

en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813)

•

en:females are more often affected

•

en:fracture frequency increases after menopause and in men ages 60-80

•

en:four clinical forms of krabbe disease

•

en:female carriers may have mild hearing impairment

•

en:variable penetrance of these features

•

en:onset in neonatal period or early infancy

•

en:women are more often affected

•

en:prevalence estimated at 1 in 50,000

•

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

•

en:onset usually before age 10 years

•

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

•

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

•

en:patients older than 60 years have severe degenerative arthritis in the feet

•

en:patients with homozygous mutations have a more severe disorder

•

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

•

en:phenotype is worsened by cold temperature

•

en:positive family history in 12-33% patients

•

en:possibly x-linked recessive inheritance

•

en:precipitated by mechanical compression or pressure on nerve

•

en:prelingual onset

•

en:prenatal onset or onset in infancy

•

en:presentation at 3-6 weeks of age

•

en:prevalence of 1 in 100,000

•

en:onset of other symptoms in adolescence or early adulthood

•

en:prevalence of 1 in 240 zuni indians

•

en:prevalence of 1 in 300,000 in quebec

•

en:prevalence of approximately 1 in 2000 individuals

•

en:prevalent in ashkenazi jews

•

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

•

en:psychiatric symptoms may be the presenting sign

•

en:regression in infancy (in some patients)

•

en:relatives with multiple small congenital pigmented nevi

•

en:reported in individuals of jewish moroccan ancestry

•

en:response to benadryl (diphenhydramine)

•

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

•

en:secondary features include arterial hypertension and renal involvement

•

en:second most common form of usher syndrome type i

•

en:onset of skin manifestations from birth to puberty

•

en:onset of optic neuropathy is usually in early adulthood

•

en:one patient with normal cognition has been reported

•

en:neonatal death secondary to pulmonary insufficiency

•

en:normal first month

•

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

•

en:no skeletal abnormalities in odontohypophosphatasia

•

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

•

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

•

en:one family reported (as of november 2011)

•

en:one family with 2 affected fetuses has been reported (as of august 2011)

•

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

•

en:one large 3-generation irish family has been reported (last curated october 2014)

•

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

•

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

•

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

•

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

•

en:onset before age 40 years

•

en:onset of myoclonus later in childhood

•

en:onset late childhood

•

en:onset of kyphosis in childhood

•

en:onset of hemolytic anemia shortly after birth

•

en:onset of contractures in utero

•

en:onset of ataxia in the fifties

•

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

•

en:onset mid to late adulthood

•

en:onset in lower limbs

•

en:onset birth to 6 months

•

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

•

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

•

en:onset in fourth to fifth decade

•

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

•

en:onset early in first decade

•

en:onset by 3 years of age

•

en:see also mmab (251110)

•

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

•

en:usually follows a static course or is slowly progressive

•

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

•

en:two families have been reported (as of curation date april 2014)

•

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

•

en:two patients without cardiomyopathy or cataracts have been reported

•

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

•

en:type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers

•

en:type 2 porencephaly is usually symmetrical and results from developmental malformation

•

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

•

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

•

en:ush3 cases account for 40% of all usher patients in finland

•

en:usually fatal

•

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

•

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

•

en:variable age at onset (birth to adolescence)

•

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

•

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

•

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

•

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

•

en:variable expressivity

•

en:variable response to steroid treatment

•

en:very few patients reported

•

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

•

en:vhl type 2c - pheochromocytoma only

•

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

•

en:x-linked inheritance could not be ruled out

•

en:x-linked recessive cytochrome b-negative cgd

•

en:z allele most common, only in caucasians

•

en:two chinese sisters and one chinese woman have been described (last curated april 2014)

•

en:tremor is aggravated by low glucose or light

•

en:some patients develop ophthalmoplegia in middle age

•

en:seizures precipitated by fatigue or alcohol

•

en:seizure frequency decreases during early childhood

•

en:severe involvement of legs

•

en:sex ratio - 2 females to 1 male

•

en:significant phenotypic variability

•

en:skeletal and facial features are variable

•

en:skin erythroderma may resolve early, leaving atrophic lesions

•

en:skin lesions improve in the summer

•

en:slow or nonprogressive

•

en:solitary disease is more common in males

•

en:some familial occurrence, most de novo aberrations

•

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

•

en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+)

•

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

•

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

•

en:three patients reported, one with a wdpcp mutation (last curated january 2015)

•

en:symptoms usually appear in adulthood

•

en:symptoms relieved by ovarian suppression

•

en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours

•

en:symptoms ameliorate with age

•

en:some patients have no or mild manifestations and normal development

•

en:sudden death in affected males occurs in teens

•

en:stokes-adams syndrome

•

en:spontaneous tumor regression may occur

•

en:spontaneous resolution of seizures by 12 months of age

•

en:some response to l-dopa therapy

•

en:some patients show improvement during summer or with fever

•

en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14

•

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

•

en:mosaic distribution of lesions

•

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

•

en:approximately 12 patients have been reported (as of march 2010)

•

en:approximately 50db loss in adulthood

•

en:associated with fragile x syndrome (309550)

•

en:more prevalent in females

•

en:association of cardiac events with exercise

•

en:autosomal dominant inheritance is more common

•

en:autosomal recessive cytochrome b-positive cgd, type ii (233710)

•

en:a mutation in the cxorf5 gene has been reported in 1 affected family

•

en:based on 1 5-generation family (last curated january 2015)

•

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

•

en:birth rate of 7.6 per 1,000,000

•

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

•

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

•

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

•

en:caused by somatic mutations

•

en:anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines)

•

en:cerebellar ataxia shows onset in young adulthood

•

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

•

en:clinically 'silent' nystagmus evident on eye movement recording in carrier females

•

en:clinically unaffected heterozygotes may show changes on electroretinography

•

en:clonazepam and diazepam may be effective in preventing or lessening severity

•

en:codas is an acronym for cerebral ocular dental auricular skeletal syndrome

•

en:colchicine treatment is not effective

•

en:cold temeratures exacerbate symptoms

•

en:complicated and pure forms

•

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

•

en:contiguous gene duplication syndrome

•

en:death by age 3 years

•

en:death in infancy in 2 patients

•

en:death in infancy secondary to respiratory insufficiency/pneumonia

•

en:appear normal at birth

•

en:all reported cases have occurred de novo

•

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

•

en:adult onset may occur

•

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

•

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

•

en:length of time post dose:time:point in time:^patient:quantitative

•

en:service comment 18:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 32: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 68:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:(3) intermediate

•

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

•

en:adult form is asymptomatic

•

en:adult onset (25-45 years)

•

en:adult onset (mean 27 years)

•

en:adult onset (mean age 37 years)

•

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

•

en:affected individuals remain ambulatory

•

en:allelic to pendred syndrome, deafness with goiter (274600)

•

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

•

en:allelic to mucopolysaccharidosis ivb

•

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

•

en:allelic to hereditary multiple leiomyoma of skin (see 150800) and hereditary leiomyomatosis and renal cell cancer (150800)

•

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

•

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

•

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

•

en:allelic disorder to dunnigan-type familial partial lipodystrophy (151660)

•

en:age at diagnosis of cataract may range up to 40 years

•

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

•

en:allelic disorder to autosomal dominant spg13 (605280)

•

en:allelic disorders with overlapping phenotypes include autosomal dominant emery-dreifuss muscular dystrophy (181350), dilated cardiomyopathy type 1a (115200), and congenital muscular dystrophy (613205).

•

en:age of onset third decade

•

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

•

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

•

en:death often in first months of life

•

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

•

en:death within first decade

•

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

•

en:incomplete, but high, penetrance

•

en:increased prevalence in the french-canadian population

•

en:increased sensitivity to valproic acid toxicity

•

en:increased susceptibility to malignant hyperthermia

•

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

•

en:left side involvement associated with serious cardiac defect

•

en:leigh syndrome, x-linked

•

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

•

en:liveborn often die within first week of life

•

en:low physical performance

•

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

•

en:majority of affected individuals are female (85%)

•

en:majority of cases are sporadic, some autosomal dominant families have been described

•

en:majority of cases in manitoba indians, northeastern manitoba, canada

•

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

•

en:incidence of 1 in 250,000 births

•

en:mean age of onset 21 years (range 14-35 years)

•

en:more frequent in individuals of asian descent

•

en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out

•

en:milder cases have onset in childhood or adulthood with history of muscle weakness since infancy

•

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

•

en:described predominantly in families from the philippines

•

en:mean age of onset 34 months

•

en:mean age of diagnosis of uterine leiomyomas is 30 years

•

en:marked variability in the deletion size

•

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

•

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

•

en:may progress to upper limbs

•

en:may manifest as 'ataxic' phenotype without parkinsonian features

•

en:may have less severe phenotype than rsts patients with crebbp mutations

•

en:maternal breast milk is protective

•

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

•

en:mean age of onset 50.2 years

•

en:improvement with age

•

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

•

en:immunologic defects are variable

•

en:diurnal fluctuation of neurologic symptoms

•

en:earlier onset is associated with a more severe disorder

•

en:exacerbation at puberty

•

en:facial dysmorphic features are mild

•

en:fatal without bone marrow transplantation

•

en:favorable response to 3,4-diaminopyridine

•

en:favorable response to alcohol

•

en:features intermediate between demyelinating cmt and axonal cmt

•

en:febrile attacks disappear in adulthood in some patients

•

en:females demonstrate lyonization with corresponding phenotypic variation

•

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

•

en:founder effect in irish traveler population

•

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

•

en:early death in males

•

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

•

en:hearing loss and ocular findings are variable

•

en:generally considered to be a benign disorder

•

en:homozygotes have more severe disease with earlier onset of thrombosis

•

en:hyperkeratosis often present at birth but may appear later

•

en:highly variable frequency and severity of attacks

•

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

•

en:hearing loss progresses to profound deafness

•

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

•

en:hearing loss affects all frequencies

•

en:genetic heterogeneity (see, e.g., cockayne syndrome type b, 133540)

•

en:group c is relatively benign

•

en:genetic heterogeneity (see lqt1 192500)

•

en:genetic heterogeneity (see cmtdia 606483)

•

en:genetic heterogeneity (see bscl2, 269700)

•

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

•

en:some patients never achieve walking or running

•

en:some patients show significant clinical improvement with riboflavin supplementation

•

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

•

en:spontaneous resorption (rare)

•

en:sporadic occurrence

•

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

•

en:subtype of migraine with aura

•

en:sudden death

•

en:symptoms are not apparent at rest

•

en:symptoms tend to improve with age

•

en:those with intermediate repeat expansions show reduced penetrance

•

en:three distinct clinical forms - endemic (equatorial africa), sporadic, and immunodeficiency-associated (e.g., hiv infection)

•

en:some patients may present with myopathic features

•

en:slight increased risk for malignancy

•

en:some patients may have a more protracted disorder with neurodegeneration

•

en:some patients may develop interictal progressive ataxia

•

en:some patients have an attenuated phenotype

•

en:some patients do not reach end-stage renal failure

•

en:some patients carry heterozygous mutations

•

en:slowly or nonprogressive

•

en:skin lesions are primarily trauma-induced but occasionally appear spontaneously

•

en:six patients reported (last curated march 2015)

•

en:six patients from 4 families have been reported (last curated january 2015)

•

en:single umbilical artery

•

en:several forms of autosomal recessive spastic paraplegia (see 270800)

•

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

•

en:three major clinical forms are apparent

•

en:variable age of onset (childhood to adulthood)

•

en:treatment with dichloroacetate (dca) prolongs survival

•

en:variable clinical phenotype

•

en:weakness during pregnancy in affected females

•

en:visual symptoms present by late childhood

•

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

•

en:variant lesch-nyhan, 1.5-8% hprt activity with neurologic abnormalities, but no self-injurious behavior

•

en:variable response to acetylcholinesterase inhibitors

•

en:variable progression rate

•

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

•

en:variable frequency and severity

•

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

•

en:variable expressivity within a family

•

en:variable expression and severity

•

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

•

en:variable age at onset of seizures

•

en:tremors develop after seizures

•

en:variable age at onset (range 15 to 60 years)

•

en:variable age at onset, usually in first decade, but can occur later

•

en:usual onset before age 6 years and death by age 20

•

en:usually affects children

•

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

•

en:upper limb involvement occur later

•

en:uncommon disorder

•

en:two patients have been reported

•

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

•

en:two families have been reported (september 2010)

•

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

•

en:serum triglycerides decrease with age

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=8038276 • caches: c1=132 c2=2273 c3=2

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