Le Diko - en:twenty-five percent of affected babies are stillborn

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Le Diko - en:twenty-five percent of affected babies are stillborn

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en:twenty-five percent of affected babies are stillborn

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:wide phenotypic variability

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en:normal intelligence in majority

•

en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe

•

en:skeletal and facial features are variable

•

en:severe incapacitation in 10-20 years

•

en:see also an adult-onset form (213600)

•

en:prenatal diagnosis available

•

en:patients with atypical form have milder disease, with onset in the first months of life and increased survival

•

en:onset in infancy (3 to 7 months)

•

en:onset in first months of life

•

en:onset before adolescence

•

en:meiotic origin >95% maternal, mostly meiosis i

•

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

•

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

•

en:incidence in japan is 1 in 57,000

•

en:hair loss begins in first years of life

•

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

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en:early-onset severe renal disease

•

en:broad-based gait

•

en:allelic to papillon-lefevre syndrome (245000) and juvenile periodontitis (170650)

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

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en:variable expression and severity

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en:some patients may present with myopathic features

•

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

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

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en:most patients become wheelchair-bound in the second to fourth decades

•

en:usual onset under age 30 years

•

en:two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014)

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

•

en:three stages of disease progression - stage 1 (subclinical), stage 2 (early myoclonic), stage 3 (disabling myoclonic)

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

•

en:seizures and dystonia peak during childhood

•

en:patients develop multiple tumors

•

en:onset of deafness in early childhood

•

en:often unilateral involvement

•

en:onset of symptoms less than one year

•

en:mean age of onset 14-24 months

•

en:genetic heterogeneity (see bafme1, 601068)

•

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

•

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

•

en:defect in tetrahydrobiopterin (bh4) synthesis

•

en:allelic to stickler syndrome, type 3 (184840) and osmed (215150)

•

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

•

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

•

en:incidence 1 in 30,000 male births

•

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

•

en:one israeli arab family has been reported with ptprf mutation (last curated september 2014)

•

en:skeletal abnormalities are variable

•

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

•

en:rickets and premature primary tooth loss occur in childhood

•

en:patients show sorbitol and glycerol intolerance

•

en:patients become wheelchair-bound as adults

•

en:onset usually in first to third decade of life

•

en:onset of muscle weakness in fifth decade

•

en:onset in males in first to third decade

•

en:onset between 8 and 30 years

•

en:onset at birth or in first days or life

•

en:adult onset (range 40 to 60 years)

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

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en:most common form of childhood idiopathic epilepsy

•

en:more severe in males than in females

•

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

•

en:genetic heterogeneity (see bafme2, 607876)

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en:favorable response to a ketogenic diet

•

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

•

en:considered a benign disorder

•

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

•

en:allelic disorder to autosomal recessive inclusion body myopathy-2 (ibm2, 600737)

•

en:allelic disorders with overlapping phenotypes include charcot-marie-tooth disease type 1 (cmt1b, 118200 and cmt1a, 118220) and dejerine-sottas syndrome (dss, 145900)

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en:uniparental disomy

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en:two main presentations

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en:febrile seizures remit by age 5 or 6

•

en:variable clinical presentation

•

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

•

en:two probands have been reported

•

en:the characteristic changes in the spine resolve by adolescence

•

en:right side affected greater than left side

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

•

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

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en:prevalence of 1 in 150,000

•

en:variable involvement of hematologic parameters

•

en:patients may have a combination phenotype of pmc and hypp (see 603967.0005)

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

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en:onset in childhood or early adulthood

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

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en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014)

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en:males are more severely affected than females

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

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en:hip joint replacement often necessary

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

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en:affected individuals remain ambulatory

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en:allelic disorder to charcot-marie-tooth disease 2f (cmt2f, 606595)

•

en:variable phenotype (range from completely female to males with mild undermasculinization)

•

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

•

en:cells of origin are part of the diffuse neuroendocrine system (dnes)

•

en:clinical variability seen in waardenburg syndrome type 1

•

en:diagnosed in second or third decade of life

•

en:all de novo mutations

•

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

•

en:onset in infancy or at birth

•

en:mean age at onset 24 years (range 14 to 33 years)

•

en:often results in death in childhood

•

en:patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system

•

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

•

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

•

en:lifelong occurrence

•

en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers

•

en:poor response to the c5 inhibitor eculizumab

•

en:significant clinical overlap with sotos syndrome (117550)

•

en:males more affected than females (2 to 2.5:1)

•

en:end-stage renal failure may occur

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en:infantile form usually leads to death by age 2 years

•

en:generally benign disorder

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en:female carriers may have mild mental retardation

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en:death usually in early childhood

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en:death frequent in severe infantile form

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

•

•

en:anemia is responsive to corticosteroid treatment

•

en:ambulation usually not achieved

•

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

•

en:allelic disorder is long qt syndrome-3 (lqt3, 603830)

•

en:spontaneous resorption (rare)

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en:bilateral involvement in 10% of cases

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en:some patients may not present until adulthood

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en:symptoms relieved by ovarian suppression

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

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

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

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en:skin manifestation less frequently observed in cold climates

•

en:severe ambulatory restriction

•

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

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en:reduced life expectancy

•

en:prevalent in bulgarian gypsies

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en:onset of hearing loss in second decade

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en:onset in fourth and fifth decades

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en:ocular abnormalities may be very mild

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en:occurs at age 20-50 years

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

•

en:late infantile onset 6-24 months

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en:allelic disorder is brugada syndrome (601144)

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

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en:heterozygotes may exhibit syndromic manifestations

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en:usually favorable response to treatment

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

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en:about 50% of mutation carriers are asymptomatic

•

en:age of onset - birth to 15 months

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en:allelic disorder to autosomal dominant spg13 (605280)

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en:arteriovenous malformations can occur throughout the body

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

•

en:genetic heterogeneity (see peoa2 609283, peoa3 609286, and peoa4 610131)

•

en:genetic heterogeneity of waardenburg syndrome type 2

•

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

•

en:most common form of inherited, congenital hydrocephalus

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

•

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

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en:rare spontaneous improvement occurs (8%)

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

•

en:sporadic occurrence

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en:seizures usually remit in adolescence

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en:severity of hematologic disorder decreases with advancing age

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en:single lesions in sporadic cases

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en:skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life

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en:some patients do not develop renal failure

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en:good response to l-dopa initially

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en:highly variable frequency and duration of episodes

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

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en:genetic heterogeneity (see 214300)

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en:first described in gypsy group from bulgaria

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en:favorable response to oral bile acid therapy

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en:fatal outcome if untreated

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en:diagnosis in early childhood

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en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years

•

en:average age of onset 6 months (range birth - 2 years)

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

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

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

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en:age-related clinical course

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en:service comment 75:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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

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

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

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

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

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en:visual and hearing loss are slowly progressive

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

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en:resource identifier:uri:pt:study:nom

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

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

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en:two types, type i or type a (classical cockayne syndrome, 216400) and type ii or type b (severe cockayne syndrome, 133540)

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

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en:skin changes have onset in childhood

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

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en:seizures easily controlled by medications

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en:reduced penetrance (approximately 54%)

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

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en:onset of renal failure in adulthood (range twenties to fifties)

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en:onset in infancy after weaning

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en:two patients have been reported

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en:onset as neonate

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en:decreased penetrance

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en:one brazilian family with 12 affected individuals reported (last curated february 2014)

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en:service comment 44:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:attacks may present during or after sleep

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

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en:connatal form (type ii), most severe with death in first decade

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en:carrier mothers have urine biochemistry profiles identical to those of their sons

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en:four clinical stages - stage i, early onset stagnation (onset 6 months-1.5 year)

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en:neurologic features are variable and not progressive

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en:genetic heterogeneity (see edm2 600204, edm3 600969, edm4 226900, edm5 607078)

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en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment

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

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en:loss of ambulation within 10 years of onset

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en:wasting of the hands is the first and most prominent manifestation

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en:highly variable phenotype with regard to pigmentation

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en:high incidence of diabetes mellitus noted in opll patients

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en:laryngeal edema can result in asphyxiation

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

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en:onset in second or third decades

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en:onset in first weeks to months of life

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en:onset in late twenties to thirties

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en:onset usually in infancy

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en:findings in muscle biopsy may be variable

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en:see also mmab (251110)

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

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

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en:early death (mean age 13 months)

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

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en:disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis

•

en:death usually by 1 year of age

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en:deafness is presenting symptom

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en:considered a normal variant

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en:carrier females have arthralgias in middle age

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en:allelic disorder to schindler disease (609241)

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en:affects up to 10% of women in their reproductive years

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en:service comment 09:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder

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en:sex ratio - 2 females to 1 male

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en:adults may be asymptomatic

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en:adolescent or adult onset associated with neuropsychiatric symptoms

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

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

•

en:two main phenotypes, severe and mild

•

en:two families have been reported (september 2010)

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

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en:survival past infancy is rare

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en:severity of clinical phenotype varies both within and between kindreds

•

en:see 607731 for an autosomal recessive form

•

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

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en:onset in lower limbs

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

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en:seizures may be triggered by infection

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en:genetic heterogeneity (see pfm1, 168500)

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en:associated with hla-dqa1*01, hla-dqb1*05, and hla-dqa1*01/dqb1*05 high association with hla-drb1*0102 (relative risk 167.1)

•

en:adult onset (sixth decade)

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en:genetic heterogeneity (see edm1 132400, edm2 600204, edm4 226900, edm5 607078)

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en:allelic to mucopolysaccharidosis ivb

•

en:allelic to osteopetrosis (259700)

•

en:autosomal recessive and dominant pedigrees described

•

en:complementation groups - complementation group a (classic mliii, 252600)

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

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

•

en:genetic heterogeneity, see lgmd2a (253600)

•

en:see also dent disease 2 (300555)

•

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

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

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en:presents with inguinal hernia (prepubertal) or primary amenorrhea (post pubertal)

•

en:protracted disease course

•

en:variable neurologic phenotype

•

en:see also optic atrophy with deafness (125250), an allelic disorder

•

en:skin changes are progressive in childhood

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

•

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

•

en:usually occurs in young adults

•

en:onset 30-40 years of age

•

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

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en:age at onset 15 to 33 years

•

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

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

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

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en:no neurologic sequelae

•

en:majority of cases are male

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

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en:does not lead to hepatic failure

•

en:death usually within first year of life

•

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

•

en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010)

•

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

•

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

•

en:date ultrasound:date:pt:^patient:qn

•

en:accounts for 5-15% of childhood epilepsies

•

en:vast majority of heterozygotes are asymptomatic

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en:tremor is aggravated by emotional stress

•

en:1 in 17,000 in china

•

en:onset at 4 to 7 years

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en:two families reported (last curated february 2013)

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en:chronic disease

•

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

•

en:see also autosomal dominant lutheran-null phenotype (111150)

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en:seen more frequently in infants of diabetic mothers

•

en:rarely reported in infants

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en:precipitated by fatigue or alcohol

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en:poor response to acetylcholinesterase inhibitors

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en:phenotypic variation

•

en:onset of symptoms in the fourth to sixth decade of life

•

en:onset of periodic paralysis (mean) 5 years (range) 8 months to 15 years

•

en:onset of ataxia between 1 and 3 years of age

•

en:see also pgl2 (601650), pgl3 (605373), and pgl4 (115310)

•

en:onset age 20 to 51 years

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en:hands clenched at birth but loosen in infancy

•

en:one family reported (last curated november 2013)

•

en:clinical and pathologic features of both demyelinating and axonal cmt

•

en:favorable response to sodium chloride treatment

•

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

•

en:frequent falls

•

en:early death from respiratory failure may occur

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en:high frequency in finnish population

•

en:neurologic features occur in adulthood

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

•

en:most children become wheelchair-bound

•

en:most common episodic ataxia syndrome

•

en:joint symptoms begin in third or fourth decade

•

en:onset 20-55 years of age

•

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

•

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

•

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

•

en:two families of canadian origin have been reported (last curated may 2012)

•

en:seizures remit by age 5 years

•

en:symptoms precipitated by sudden movements

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

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

•

en:odor of 'sweaty feet'

•

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

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en:early death from infection may occur

•

en:mutations show partial penetrance

•

en:may be due to imprinting defect

•

en:major fluid shifts may occur in severe cases

•

en:majority of cases (95%) are sporadic

•

en:increased rate of miscarriage in affected individuals

•

en:incidence of 1 in 20,000 live births

•

en:favorable response to rituxan (in some patients)

•

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

•

en:autosomal recessive form (240220)

•

en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780)

•

en:(4) thiamine-responsive form

•

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

•

en:allelic to myosin storage myopathy (608358)

•

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

•

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

•

en:occasional adult onset

•

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

•

en:variable response to acetylcholinesterase inhibitors

•

en:variable phenotype (myotonia may or may not be present)

•

en:some patients have persistence of seizures to adulthood, but then show remission

•

en:some patients have juvenile-onset myoclonic epilepsy

•

en:skin blistering and photosensitivity improve in adulthood

•

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

•

en:physiologic decreased plasma cholinesterase activity in pregnancy, the puerperium, and newborns

•

en:onset of symptoms 2-4 weeks of age

•

en:onset of liver involvement in infancy

•

en:one patient described (last curated december 2013)

•

en:variable response to steroid treatment

•

en:no skeletal abnormalities in odontohypophosphatasia

•

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

•

en:normal alleles have 25 to 44 repeats

•

en:frequency 1/100,000 - 1/130,000 live births

•

en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678)

•

en:homozygosity or compound heterozygosity for lamb2 mutations conferring complete loss of function (e.g., truncating mutations) appear to be associated with pierson syndrome

•

en:female carriers may have asymptomatic proteinuria or hypercalciuria

•

en:early death without kidney transplant

•

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

•

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

•

en:most patients are severely affected

•

en:increased paternal age

•

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

•

en:onset of symptoms in second decade of life

•

en:one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014)

•

en:one patient was less severely affected

•

en:onset of dementia in the thirties or forties

•

en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade

•

en:phenotypic overlap with desbuquois dysplasia (251450)

•

en:number of episodes varies from 1 to many (up to 20)

•

en:see also autosomal recessive robinow syndrome (268310)

•

en:some features may be progressive

•

en:symptoms benefit from sleep

•

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

•

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

•

en:intellectual disability is variable

•

en:may be asymptomatic

•

en:maternal anticipation bias

•

en:homozygotes have earlier onset and a more severe disorder

•

en:heterozygous mutations reported, see 606609.0006 and 606609.0007

•

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

•

en:carrier frequency 1:200,000 in france

•

en:based on report of 2 siblings and 1 patient (last curated december 2014)

•

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

•

en:autosomal dominant omodysplasia has also been described (164745)

•

en:all reported cases result from de novo mutation (last curated july 2014)

•

en:adult onset has been reported

•

en:two families reported (last curated september 2012)

•

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

•

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

•

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

•

en:major fetal plasma protein produced by yolk sac and liver

•

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

•

en:variable facial dysmorphic features

•

en:variable clinical phenotype

•

en:usually occurs in young adulthood

•

en:spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain

•

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

•

en:prevalence estimated at 1 in 86,000

•

en:onset in infancy or early childhood (before age 3 years)

•

en:onset in females ranges from third to seventh decade

•

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

•

en:neurologic signs are present in the neonatal period only

•

en:many patients are asymptomatic

•

en:onset in mid to late childhood

•

en:intermittent exacerbations

•

en:complicated and pure forms

•

en:allelic to deafness, autosomal recessive 12 (601386)

•

en:genetic heterogeneity (see 610168)

•

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

•

en:cardiac features are observed in ~3% of cases

•

en:cheerful disposition

•

en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype

•

en:death usually by age 10 years

•

en:deposits may recur in graft after corneal transplantation

•

en:female carriers are unaffected or show neuropsychiatric features

•

en:frequently fatal within the first year of life

•

en:genetic heterogeneity (see 192600)

•

en:persistent bleeding after injury or surgery

•

en:phenotypic overlap with frontotemporal dementia (600274)

•

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

•

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

•

en:phenotypically mild form of joubert syndrome

•

en:phenotype may be exacerbated by maltreatment in childhood

•

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

•

en:periodontium is less severely affected than in papillon-lefevre syndrome

•

en:peak age of onset in second decade (range childhood to 76 years)

•

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

•

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

•

en:pathogenic cag repeat length is 51 to 78 triplets

•

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:predisposition to neoplasia

•

en:phenotypic variability, intrafamilial

•

en:recurrence of symptoms after cholecystectomy

•

en:prenatal onset or onset in infancy

•

en:progressive disorder regarding both neurologic and renal symptoms

•

en:reduced penetrance (approximately 87%)

•

en:reduced life expectancy, death by 10 years of age in 70% of patients

•

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

•

en:pyogenic arthritis, pyoderma gangrenosum and acne

•

en:psychiatric symptoms may be the presenting sign

•

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

•

en:progressive disorder

•

en:presentation at 3-6 weeks of age

•

en:progression in adulthood

•

en:primarily diagnosed in females

•

en:prevalence of 1 in 7,900 in cameroon

•

en:prevalence of 1 in 300,000 in quebec

•

en:presents as early-onset strokes in 43% of patients

•

en:presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency

•

en:onset usually in first decade

•

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

•

en:onset usually at birth, but may occur later

•

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

•

en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications

•

en:only female patients reported (last curated october 2013)

•

en:onset 13-15 years

•

en:onset 14 months to 4 years of age

•

en:onset 6 months to 2.5 years

•

en:onset after puberty

•

en:onset at 6-9 months

•

en:onset at age 3-5 years

•

en:onset at birth or early childhood

•

en:onset before age 3 years

•

en:onset between 3 and 6 months of age

•

en:onset between ages 10 and 25 years

•

en:onset between ages 5 and 15 years

•

en:onset in childhood, adolescence, and adulthood

•

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

•

en:onset usually at 2 to 6 months of age

•

en:onset of hearing loss in late childhood or adolescence

•

en:onset ranges from first to third decade

•

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

•

en:onset of visual loss in childhood (around age 5 years)

•

en:onset of seizures ranges from 2 to 11 years

•

en:onset of optic atrophy in infancy or early childhood

•

en:onset of normal pressure hydrocephalus after age 65 years

•

en:onset of hearing loss in childhood

•

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

•

en:onset of essential tremor between 16 and 44 years

•

en:onset of diabetes in teenage years

•

en:onset of deafness and diabetes in adulthood

•

en:onset in second to fourth decade

•

en:onset in infancy and third decade had been reported

•

en:onset in fifth or sixth decade

•

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

•

en:two unrelated patients have been reported, 1 with normal neurologic development and the other with profound neurologic abnormalities (last curated august 2014)

•

en:relationship of rare neuropsychiatric signs to histidinemia is unclear

•

en:type i is infantile-onset, severe

•

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

•

en:usually adult onset

•

en:user syndrome type ii (congenital moderate-severe deafness, normal vestibular dysfunction, and onset of retinitis pigmentosa in late second to early third decade) - 3 loci

•

en:upper limb involvement usually occurs later

•

en:unusual skill with jigsaw puzzle

•

en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:two unrelated individuals have been reported (last curated january 2014)

•

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

•

en:variable disease severity

•

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

•

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

•

en:accounts for 30-50% of lymphomas in children

•

en:absence seizures usually remit by puberty

•

en:abnormal morphogenesis of first and second branchial arches

•

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

•

en:12% due to epimutation

•

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

•

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

•

en:variable heat tolerance

•

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

•

en:xy karyotype

•

en:wide range of onset from childhood to adult (10 to 50 years)

•

en:visual impairment is present at birth and is progressive

•

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

•

en:variable presentation and evolution of symptoms

•

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:risk of thromboembolic stroke

•

en:severe infantile form presents before 6 months

•

en:some patients have milder persistent blistering

•

en:some patients have isolated cfeom

•

en:some patients do not have thin corpus callosum

•

en:some familial occurrence, most de novo aberrations

•

en:some carrier females have mild features

•

en:sexual infantilism

•

en:seizure frequency decreases during early childhood

•

en:some patients show significant clinical improvement with riboflavin supplementation

•

en:seizures become nearly continuous

•

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

•

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

•

en:see also autosomal dominant form (176860)

•

en:see 255160 for an autosomal recessive form

•

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

•

en:some patients may live to adulthood

•

en:stable or slowly progressive course

•

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

•

en:three major clinical forms are apparent

•

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

•

en:tumor suppressor gene

•

en:treatment with dichloroacetate (dca) prolongs survival

•

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

•

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

•

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

•

en:three forms of cjd: acquired (including variant), sporadic, and inherited

•

en:stillborn or death in infancy

•

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

•

en:three affected sibs have been reported

•

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

•

en:this patient died at age 2 years

•

en:symptoms vary according to location of tumor

•

en:symptoms are responsive to cobalamin treatment

•

en:one patient died at age 7 years

•

en:longer disease duration than creutzfeldt-jakob disease

•

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

•

en:favorable response of episodic attacks to acetazolamide

•

en:death in childhood may occur due to infection

•

en:death in utero or in the perinatal period

•

en:death usually in sixth decade

•

en:decreased life expectancy

•

en:diagnosis made if 3/7 defects are present

•

en:diagnosis occurs between 23 and 33 weeks' gestation

•

en:disease course depends on age at onset

•

en:early death due to infection

•

en:early death in early adulthood often associated with diverticulitis and intestinal perforation

•

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

•

en:episodes last 1 to 2 days

•

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

•

en:facial appearance becomes more apparent with age

•

en:fatal without hematopoietic stem cell transplantation

•

en:favorable response to corticosteroid treatment (1 family)

•

en:complete manifestation in males

•

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

•

en:genetic heterogeneity (see 159900)

•

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

•

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

•

en:genetic heterogeneity, see ppnad1 (610489)

•

en:genetic heterogeneity, see ekd1 (128200)

•

en:genetic heterogeneity, see cild1 (244400)

•

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

•

en:favorable response to spironolactone

•

en:fracture frequency constant through childhood, decreases after puberty

•

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

•

en:foot dragging may appear in childhood

•

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

•

en:female carriers may have subtle manifestations

•

en:females have milder manifestations than males

•

en:contiguous gene syndrome

•

en:common in south african whites

•

en:genetic heterogeneity (see feb1 121210)

•

en:autosomal recessive (177000.0006)

•

en:based on report of 1 japanese family (last curated november 2013)

•

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

•

en:based on 1 uruguayan family (last curated april 2014)

•

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

•

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

•

en:average age at death is 37 years

•

en:associated with malignant hyperthermia (mhs, 145600)

•

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

•

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

•

en:almost all patients require total parenteral nutrition

•

en:all cases are de novo

•

en:allelic to stickler syndrome, type 3 (184840) and weissenbacher-zweymuller syndrome (277610)

•

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

•

en:additional developmental abnormalities may be seen in some patients

•

en:based on report of 2 sisters (last curated october 2012)

•

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

•

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

•

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

•

en:clinical overlap with dejerine-sottas syndrome (dss, 145900)

•

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

•

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

•

en:chronic course with exacerbations and remissions

•

en:childhood onset rarely occurs

•

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

•

en:caused by constitutive activation of the avpr2 receptor

•

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

•

en:caused by a defect in bile acid transport

•

en:carrier females are unaffected

•

en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation)

•

en:cardiomyopathy may develop later in the disease

•

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

•

en:brain anomalies variable

•

en:genetic heterogeneity (see 266900 for summary)

•

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

•

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

•

en:minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene

•

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

•

en:most patients die within the first year of life

•

en:most common inherited bleeding disorder

•

en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases)

•

en:most cases due to de novo mutation

•

en:mode of inheritance is unclear

•

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

•

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

•

en:midline defects

•

en:median age at diagnosis, 59 years

•

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

•

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

•

en:mean age at onset of migraines is 42 years

•

en:mean age at onset 46.5 years (range 19-64)

•

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

•

en:ninety percent of cases are female

•

en:may be x-linked

•

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

•

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

•

en:one family reported (last curated january 2014)

•

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

•

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

•

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

•

en:one family has been reported

•

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

•

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

•

en:old order amish, african american, and french patients have been described

•

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

•

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

•

en:no response or worsening with acetylcholinesterase inhibitors

•

en:no abnormalities of hair, teeth, or bones

•

en:normal alleles contain 15 to 50 repeats

•

en:may progress to other body regions after many years

•

en:may be fatal in infancy

•

en:gene frequency in northwest puerto rico 1 in 18

•

en:heterozygous mutation carriers may show mild symptoms

•

en:incidence ranges from 1 in 8,500 to 1 in 12,000 births

•

en:incidence - 1 in 25,000-100,000

•

en:icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness

•

en:high frequency in hutterite population

•

en:highly variable intrafamilial severity

•

en:highly variable age at onset

•

en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern

•

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:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant

•

en:hearing loss is variable

•

en:group b patients die by 3 months of age

•

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

•

en:good response to phosphate treatment

•

en:gonadal mosaicism may occur

•

en:increased frequency in individuals of asian descent

•

en:increased morbidity/mortality in affected males

•

en:many cases are asymptomatic

•

en:laboratory findings are variable

•

en:male to female ratio 4:1

•

en:majority die in neonatal period secondary to respiratory insufficiency

•

en:lower limb involvement occurs before upper limb involvement

•

en:limited clinical information provided for patients with bbs12 mutations (last curated october 2014)

•

en:limb malformations are variable

•

en:later onset associated with milder severity has been reported

•

en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france

•

en:increased prevalence among the finnish

•

en:juvenile myoclonic epilepsy (jme, 606904)

•

en:juvenile and adult forms are isolated glycerol kinase deficiency

•

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

•

en:infants occasionally mistaken as having down syndrome

•

en:infants may die from apnea or aspiration

•

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

•

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

•

en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats)

•

en:adult onset (thirties to forties)

•

en:onset within first 2 years of life

•

en:onset in newborns or infants

•

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

•

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

•

en:onset in the second to fourth decades of life

•

en:onset may be prelingual or in childhood

•

en:onset of achalasia in infancy or early childhood

•

en:onset of diabetes in neonatal period/ early infancy

•

en:onset of disease before 7 years of age

•

en:onset of disease within the first year of life

•

en:onset of hearing loss ranges from childhood to young adulthood

•

en:onset of progressive spastic paraplegia in childhood

•

en:onset usually at birth

•

en:onset usually in childhood (infancy to teens)

•

en:onset usually in second decade

•

en:paternal age effect

•

en:onset in infancy up to 3 years

•

en:phenotypic variability within families and among patients carrying the same mutation

•

en:progressive disease with onset in infancy

•

en:prevalence in the finnish population of 5.8 per million

•

en:prevalence 1-2% in northern european populations

•

en:present at birth

•

en:presenting symptoms in the upper body

•

en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis

•

en:phenotypic variability

•

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

•

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

•

en:phenotypic overlap with parkinson disease

•

en:phenotypic overlap with currarino syndrome (176450)

•

en:persistence of febrile seizures beyond age 6 years

•

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

•

en:patient with truncating mutations are more likely to develop neurologic abnormalities

•

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

•

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

•

en:rapidly progressive (6-24 months)

•

en:nphp shows autosomal recessive inheritance

•

en:one family reported (last curated july 2008)

•

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

•

en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011)

•

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

•

en:one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014)

•

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

•

en:no predisposition to skin tumor development

•

en:one french family has been reported (as of march 2012)

•

en:no increased fragility of hair

•

en:not all patients have a myopathy

•

en:normal alleles contain up to 44 repeats

•

en:normal alleles contain 6 to 28 repeats

•

en:normal ability to tolerate heat

•

en:nonrandom association of following anomalies--v (vertebral anomalies), a (anal atresia), c (cardiovascular anomalies), t (tracheoesophageal fistula), e (esophageal atresia), r (renal anomalies), l (preaxial limb anomalies)

•

en:one family with a fatal subacute encephalopathy has been reported

•

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

•

en:onset in first decade of life

•

en:onset <30 months

•

en:onset in first 2 decades (range 6 to 15 years)

•

en:onset between 7 and 27 years of age

•

en:onset between 6 and 9 months after normal early development

•

en:onset at age 5 years

•

en:onset at age 36 years

•

en:onset age 14-28 years

•

en:onset 2-4 years of age in iia

•

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

•

en:only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis

•

en:one third of patients represent new mutations

•

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

•

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

•

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

•

en:one pakistani family reported (last curated november 2012)

•

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

•

en:rapid progression to disability

•

en:neurologic findings closely resemble those of huntington disease (hd, 143100)

•

en:usually poor response to steroid treatment

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:unbalanced chromosomal translocation carrier have thin body habitus, shallow orbital ridges, arched eyebrows, exophthalmia, ptosis, bilateral ophthalmoplegia, thin upper lip, kyphosis, pectus excavatum, and mental retardation

•

en:uncommon disorder

•

en:usually begins in feet and legs (peroneal distribution)

•

en:usually follows a static course or is slowly progressive

•

en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800)

•

en:tremor may be elicited by movement or postural maintenance

•

en:variable frequency and severity

•

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

•

en:wide phenotypic variation

•

en:wheelchair use by 10-30 years

•

en:wheelchair-bound average 12 years after onset

•

en:variable phenotype, particularly with regard to cortical malformations

•

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

•

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

•

en:variable age at onset, from birth to ninth decade

•

en:variable features and severity

•

en:variable expressivity

•

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

•

en:variable age at onset (range late infancy to adulthood)

•

en:variable age at onset (range 10 to 50 years)

•

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

•

en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases)

•

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

•

en:risk of sudden death

•

en:seizures usually remit spontaneously by 12 months of age

•

en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes

•

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

•

en:sleepwalking triggered by alcohol, sleep deprivation, stress

•

en:skin lesions tend to occur on distal extremities or at elbows and knees

•

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

•

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

•

en:seizures remit in early childhood

•

en:some patients develop diabetes mellitus as adolescents

•

en:seizures are usually refractory at first

•

en:seizures are fever-sensitive

•

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

•

en:see also gaucher disease type iii (231000), which is much less severe

•

en:see also autosomal recessive sick sinus syndrome (sss1, 608567)

•

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

•

en:some patients can hold menial jobs

•

en:some patients do not achieve independent ambulation

•

en:trauma may accelerate symptoms

•

en:symptoms remain focal

•

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

•

en:three patients have been reported (as of august 2011)

•

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

•

en:three families described (last curated january 2014)

•

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

•

en:symptoms usually resolve without treatment

•

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

•

en:some patients do not manifest renal disease in the first decade of life

•

en:subtype 3a comprises myoclonus and dementia

•

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 report increased tolerance to heat

•

en:some patients may lose independent ambulation

•

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

•

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:non-progressive or very slowly progressive

•

en:nails may be intermittently involved

•

en:adult onset has been rarely reported

•

en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects)

•

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

•

en:colchicine treatment is not effective

•

en:comprises several subtypes, including

•

en:congenital onset

•

en:contiguous gene deletion syndrome at chromosome 6p

•

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

•

en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases

•

en:death before age 40

•

en:death in third or fourth decades, usually due to respiratory infection

•

en:death in utero or as neonate

•

en:death occurs in second or third decade

•

en:death usually within first weeks of life

•

en:death within first decade

•

en:development of afebrile seizures later in childhood

•

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

•

en:clinically mimics congenital torch infections (see 251290)

•

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

•

en:febrile illness may precipitate attacks of weakness

•

en:features are variable

•

en:favorable response to oral creatine treatment

•

en:fat pads become less prominent with time

•

en:extreme clinical heterogeneity

•

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

•

en:episodic decompensation is usually triggered by illness

•

en:dip is a pathologic diagnosis that may represent other disease entities

•

en:episodes last 2 days to 1 week

•

en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported

•

en:early onset, between 35-60 years

•

en:earlier onset is associated with a more severe disorder

•

en:does not result in renal failure

•

en:distinct disorder from parkinson disease (168600)

•

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

•

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

•

en:fishy body odor

•

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

•

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

•

en:allelic to noonan syndrome (163950)

•

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

•

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

•

en:allelic disorder to infantile neuroaxonal dystrophy (256600)

•

en:allelic disorder to ifap syndrome (308205)

•

en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600)

•

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

•

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

•

en:aggressive malignancies

•

en:age of onset 1 to 2 years

•

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

•

en:affected females may have increased spontaneous abortions

•

en:adult onset of muscle symptoms

•

en:amelioration with age

•

en:appear normal at birth

•

en:childhood onset (average 4 to 6 years)

•

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

•

en:changes more marked in hands than feet

•

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

•

en:can be asymptomatic

•

en:candidiasis is restricted to nails of hands and feet

•

en:both homozygous and heterozygous ednrb mutations have been found

•

en:both heterozygous and homozygous pax3 mutations have been found

•

en:based on report of 1 family (last curated october 2014)

•

en:approximately 40% of patients die within newborn period

•

en:based on 4 patients in one family

•

en:a subset of patients have heterozygous mutations, which may predispose to disease development

•

en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3

•

en:average disease duration of 7 years

•

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

•

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

•

en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada

•

en:five clinical variants of msud unassociated with genotype

•

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

•

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

•

en:may not be clinically manifest until middle life

•

en:may be triggered by minor head trauma

•

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

•

en:marked favorable response to l-dopa treatment

•

en:male to female ratio 7:1

•

en:males mores severely affected than females

•

en:majority of patients are pyridoxine-responsive

•

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

•

en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300)

•

en:lifetime risk of ovarian cancer in mutation carriers is 40 to 50%

•

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

•

en:lethal in the neonatal period

•

en:late-onset, slowly progressing form of retinitis pigmentosa

•

en:juvenile rigid early-onset form more often paternally inherited

•

en:mean age at onset 45 years

•

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

•

en:interfamilial and intrafamilial clinical heterogeneity

•

en:most individuals are asymptomatic

•

en:most retain independent ambulation

•

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

•

en:most patients die of renal failure in early adulthood

•

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

•

en:most patients die in early childhood

•

en:most mutations occur de novo

•

en:most common inherited ataxia

•

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

•

en:mode of inheritance is uncertain

•

en:median age of onset of leukoplakia - 7 years (range 1-26 years)

•

en:mean age of onset 56 years

•

en:mean age of onset 50.2 years

•

en:mean age of onset 34 months

•

en:mean age of death is 34 years

•

en:internal organ rupture may occur

•

en:infants may have acute life-threatening crises

•

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

•

en:genetic heterogeneity, see evr1 (133780)

•

en:heterozygous females more mildly affected than hemizygous males

•

en:hepatomegaly improves with age and disappears around puberty

•

en:hand involvement improves with age

•

en:hair may normalize at puberty

•

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

•

en:genetic heterogeneity, see spg3a (182600)

•

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

•

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

•

en:generally considered to be a benign disorder

•

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

•

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

•

en:foot deformities are present in infancy or childhood

•

en:food intolerance

•

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

•

en:heterozygous mutation carriers may have late-onset of mild symptoms

•

en:highly variable age at onset (range 9 to 69 years)

•

en:individuals do not develop erythrocytosis under hypoxic conditions

•

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

•

en:increased recurrence risk with parental translocation

•

en:increased frequency in the state of bahia, brazil

•

en:incidence of 1 in 5,000 to 1 in 10,000

•

en:incidence of 1 in 300,000

•

en:incidence of 1 in 3,500 boys

•

en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region

•

en:incidence 8/1,000 newborns

•

en:highly variable frequency and severity of attacks

•

en:impaired healing

•

en:icelandic families

•

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

•

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

•

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

•

en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens')

•

en:allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670)

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6862324 • caches: c1=6 c2=1002 c3=1

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