Diko : en:reported patients are asymptomatic

en:reported patients are asymptomatic

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umls:C4229966

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510

patients

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patient

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en:reported

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en:age of onset/diagnosis 12-35 years

•

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

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

•

en:death in majority of infants soon after birth

•

en:approximately 70-80% of cases are de novo and sporadic

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

•

en:childhood onset

•

en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty

•

en:death from pneumonia

•

en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood

•

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

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

•

en:average age at diagnosis 17.8 years (range 2-35 years)

•

en:death before age 40

•

en:clinical and biochemical abnormalities disappear with age

•

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

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

•

en:diarrhea worsens in parallel with increases in severity of skin disease

•

en:discordant phenotype among monozygotic twins has been reported

•

en:dwarfism not detectable at birth

•

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

•

en:associated with hemodialysis

•

en:clinical presentation varies from asymptomatic to fulminant course

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en:death in infancy secondary to respiratory insufficiency/pneumonia

•

en:death may occur in infancy

•

en:death in infancy in 2 patients

•

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

•

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

•

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

•

en:death in perinatal period

•

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

•

en:may occur in adults (also in pregnancy)

•

en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years)

•

en:adult onset has been reported

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

•

en:all features are unilateral

•

en:associated with increased frequency of autoimmune diseases

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en:associated with smoking

•

en:adult onset (20 to 50 years)

•

en:anemia is responsive to corticosteroid treatment

•

en:a milder form has also been reported

•

en:autosomal recessive form (277720) has also been described

•

en:autosomal recessive disorder tends to be more severe

•

en:may be triggered by minor head trauma

•

en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise

•

en:age at onset from 3 to 51 years (mean 19.2 years)

•

en:congenital onset

•

en:all cases sporadic (18 males, 7 females)

•

en:attacks more common in women

•

en:average age at onset between 40 and 50 years

•

en:average disease duration of 7 years

•

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

•

en:bleeding is usually delayed-onset after challenge

•

en:blisters are precipitated by minor skin trauma

•

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

•

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

•

en:child often can sit unsupported but never ambulates

•

en:adult onset (wide range of age)

•

en:average onset of seizures 6 months (range 3-12)

•

en:approximately 50% of patients have situs inversus

•

en:diurnal fluctuation

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en:chronic course with exacerbations and remissions

•

en:early death in males

•

en:highly variable phenotype, even within families

•

en:favorable response to 3,4-diaminopyridine

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en:earlier onset is associated with a more severe disorder

•

en:favorable response to ephedrine treatment

•

en:compound heterozygosity common

•

en:facial palsy often transient in infancy

•

en:few familial (parent offspring) cases reported

•

en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930)

•

en:great variation in extent of hypertrophy in mutation-positive individuals

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en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea

•

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

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en:hands clenched at birth but loosen in infancy

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en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only

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en:hepatomegaly improves with age and disappears around puberty

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en:eye involvement begins at birth, neurologic involvement begins later

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en:estimated frequency 1/2000-1/4000 individuals

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

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

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en:highly variable expression

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

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

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en:genetic heterogeneity (see 609192)

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

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

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en:highly variable phenotype, ranging from asymptomatic to severe

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en:hip joint replacement often necessary

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en:highly penetrant, but low morbidity

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en:hyperthermia in early childhood

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en:hyperkeratosis often present at birth but may appear later

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en:facial dysmorphic features are mild

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

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

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en:death often occurs in childhood

•

en:cutaneous symptoms induced by cold exposure or cooling

•

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

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en:death due to rapidly progressive pulmonary fibrosis in infancy

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en:death usually in newborn period or infancy

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en:excessive skin picking of sores

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en:distinct from pseudopili annulati (613241)

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en:early adult onset has been reported

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en:carrier females show no phenotypic abnormalities, but may have learning difficulties

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en:death secondary to respiratory infection or failure before age 2 years

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

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

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en:adrenal insufficiency usually develops later (first decade)

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en:death secondary to renal failure, cardiac or cerebrovascular disease

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en:death usually in childhood

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en:based on report of 2 sibs in 2008

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en:early death (usually by 3 years of age)

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en:death usually in first year of life

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en:diagnosis within the first 3 months of life

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en:deposits may recur in graft after corneal transplantation

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en:end-stage renal failure may occur

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

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en:episodes last from several hours to days

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en:early death may occur

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en:estimated frequence 1/3000 to 1/5000

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en:excessive postsurgical blood loss

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en:familial occurrence is rare

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

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en:elevated body temperatures to 42 degrees celsius

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

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

•

en:allelic to metaphyseal dysplasia without hypotrichosis (250460)

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en:based on one sib pair each in their seventies

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en:therapy is placement of implantable cardioverter defibrillator (icd)

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en:pigmentation not always butterfly-shaped

•

en:two families with confirmed adra2b mutations have been reported (last curated june 2015)

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en:quinidine therapy may be effective

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en:some patients have onset in second decade of life

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en:recurrent episodes of liver failure during intercurrent infections

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en:two sibs have been reported (last curated november 2015)

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en:lethal in utero or perinatal lethal

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en:inflammatory bowel disease may develop in childhood or adolescence

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en:two sibs each from unrelated saudi arabian families reported (last curated may 2014)

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en:skewed x-inactivation, with complete skewing in some individuals

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en:seizures remit spontaneously by age 5 years

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en:patients may die in infancy or childhood due to respiratory failure

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en:marked intrafamilial variability of clinical features

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en:intrafamilial variability in number of missing teeth

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en:weakness during pregnancy in some affected females has been reported

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en:initial hearing loss is mild progressing to severe or profound by the seventh decade

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en:family a had a severe multisystem disorder resulting in death before age 2 years

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en:high frequency hearing loss progresses to include all frequencies

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en:incomplete penetrance in some families

•

en:no extraocular findings

•

en:first fracture in early childhood

•

en:both mutations occurred de novo

•

en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance

•

en:onset in first decade after normal early development

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en:symptoms present from infancy or early childhood

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en:precipitation by pregnancy

•

en:late-adult onset

•

en:based on report of 4 patients from 1 family (last curated july 2015)

•

en:autoimmune features are variable

•

en:asymptomatic patients may show changes on sd-oct

•

en:affected individuals may have more than 1 cardiac structural defect, or none at all

•

en:based on one jordanian family (last curated august 2015)

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en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015)

•

en:age of onset varies ranging from 3 weeks to 22 years

•

en:carrier females may have mild intellectual disability

•

en:age of onset between 5 and 10 years of age

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en:affected individuals have a relatively mild ichthyosis phenotype

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en:genetic heterogeneity (see mcc1 deficiency 210200)

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en:hearing loss occurs later if at all

•

en:three fetuses from 1 family have been reported (last curated august 2015)

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en:based on one large dutch family (last curated august 2015)

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en:cardiac examination is usually unremarkable

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en:based on report of 2 individuals (last curated november 2013)

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en:onset of overgrowth in the first year of life (in most cases)

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en:most patients become wheelchair-bound in the second or third decades

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en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported

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en:exacerbated by stress

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en:ketogenic diet may be effective

•

en:highly variable severity and features

•

en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period

•

en:onset in first decade (as early as infancy in some)

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en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth

•

en:relatively mild phenotype

•

en:onset of symptoms in early childhood in most patients

•

en:clinical variability, both pure and complicated forms

•

en:allelic disorder to benign hereditary chorea (118700), which is less severe

•

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

•

en:fractures can occur in utero, during labor and delivery, or in newborn period

•

en:(3) adult nonnephropathic (219750)

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en:manifestations continue to appear until 5th decade

•

en:mean age at onset of cerebellar ataxia is 52.8 years

•

en:absence seizures show onset between 3.5 and 4 years

•

en:abnormal sensitivity to therapeutic radiation

•

en:infantile form accounts for 90% of cases

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en:medial onset of end stage renal disease 13 years

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en:liver symptoms improve with age and disappear after puberty

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en:50% of cases represent new mutations associated with advanced paternal age

•

en:may not be clinically manifest until middle life

•

en:mean age of onset in third decade

•

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

•

en:age of onset usually 1 week to 2 years

•

en:highly variable frequency and duration of episodes

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

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en:age at onset 14 to 44 years

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

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

•

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

•

en:allelic to hydropic and prenatally lethal chondrodystrophy (215140)

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

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en:age of onset ranges from 1 to 47 years

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en:age at onset 8 to 55 years (mean 40 years)

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

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en:adult onset

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en:associated with advanced paternal age

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en:gastric suction pump, home model, portable or stationary, electric

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en:hearing loss occurs in late childhood

•

en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures)

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en:metabolic encephalomyopathic crises often triggered by infection

•

en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene

•

en:nine patients have been reported (last curated july 2015)

•

en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms

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en:onset of visual dysfunction in early childhood

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en:can also be caused by contiguous gene deletion on chromosome 22q11.2

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en:retinal holes were present in an asymptomatic female carrier

•

en:males tend to have earlier onset than females

•

en:onset of night blindness varies among patients from early childhood to mid thirties

•

en:penetrance estimated to be 80%

•

en:two sibs from a consanguineous syrian family have been reported (last curated july 2015)

•

en:one family and 2 unrelated patients have been reported (last curated december 2015)

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en:surviving males are postzygotic mosaic for ebp mutations

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

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en:increased susceptibility to multiple carcinomas

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en:treatment with sulfonylurea can be effective

•

en:variable severity of clinical and radiologic manifestations

•

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

•

en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015)

•

en:disease shows slow progression

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en:median survival is > 50 years

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en:many adults with typical form remain ambulatory

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en:majority of children die before age 2

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en:liveborn often die within first week of life

•

en:late-adult onset has been reported

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en:early death due to sepsis

•

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

•

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

•

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

•

en:mean age of onset 31 years (range 5-60)

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

•

en:length of attack, 3 to 7 days

•

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

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en:majority of cases sporadic

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

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

•

en:high recurrence rate

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en:median survival 5.7 years

•

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

•

en:median age at diagnosis, 59 years

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en:maternal imprinting

•

en:many cases are asymptomatic

•

en:leg pain during childhood

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

•

en:mean age of onset 50 to 52 years

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en:may fade with age

•

en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20%

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en:high frequencies affected before low frequencies

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

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en:many patients become wheelchair-bound

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

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en:marked heterogeneity

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en:maternal anticipation bias

•

en:loss of tumor suppressor gene

•

en:mean age at onset 57-60 years

•

en:mean age of onset 20.6 years

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en:median age of onset of nail dystrophy - 7 years (range 1-6 years)

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en:majority of patients are stillborn or die before 5 months of age

•

en:may have seasonal variance in severity

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en:lack of treatment results in early death

•

en:mean age at onset of dementia is 57 years

•

en:left side involvement more frequent than right side involvement

•

en:increased male to female ratio (7.5:1)

•

en:majority of cases are male

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en:live born infants die within few hours of birth

•

en:death in fourth to fifth decade

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en:majority of patients have normal intelligence

•

en:highly variable organ involvement and severity

•

en:may be asymptomatic

•

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

•

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

•

en:lower limb weakness is presenting feature

•

en:incidence of 1 in 3,500 boys

•

en:later onset can also occur (up to age 17 years)

•

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

•

en:majority are isolated cases

•

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

•

en:increased sensitivity to valproic acid toxicity

•

en:mean survival 5 months

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en:long headache duration (greater than 12 hours)

•

en:mean age at onset 32 years

•

en:mean age of onset 35-40 years

•

en:median age of diagnosis is 28 years

•

en:major fluid shifts may occur in severe cases

•

en:may show good response to levodopa

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en:incidence 1 in 8,000 live births

•

en:mean age at onset of bone fractures, 24 years

•

en:marked clinical variability within families

•

en:male to female ratio 4:1

•

en:female carriers may show intermittent hematuria

•

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

•

en:later onset of neurologic features

•

en:may be lethal in the neonatal period

•

en:internal organ rupture may occur

•

en:mean age of onset, 5 years

•

en:median age at onset 23 years

•

en:mean age at termination 3 to 4 years

•

en:onset usually in childhood or adolescence

•

en:cardiomyopathy is not a feature

•

en:asymmetric muscle involvement

•

en:onset of lymphedema around puberty

•

en:some patients may show normal early development before seizure onset

•

en:heterozygous females may have situs inversus or other midline defects

•

en:one lebanese family has been reported

•

en:four patients from 3 families have been reported (last curated march 2016)

•

en:male predominance of 3:1 to 5:1

•

en:no consistent dysmorphic facial phenotype

•

en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate

•

en:osteoglophonic, derived from greek meaning hollowed out

•

rétinite pigmentaire d'apparition tardive

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en:retinitis pigmentosa

•

létal

•

en:fishy body odor

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létale

•

rétinite pigmentaire liée à la périphérine

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rétinite pigmentaire et retard mental

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rétinite pigmentaire, surdité, retard mental, et hypogonadisme

•

rétinite pigmentaire liée à la rhodopsine

•

rétinite pigmentaire

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en:mean age of diagnosis 40 years

•

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

•

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

•

en:mean age at onset 35 years (range 20-60)

•

en:mean age at onset 10.6 years

•

en:mean age of onset about 62 years (45-79 years)

•

en:mean age of onset 16 to 19 years

•

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

•

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

•

en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features

•

en:highly variable clinical phenotype

•

en:joint symptoms begin in third or fourth decade

•

en:mean age at onset 28 years

•

en:majority of cases (95%) are sporadic

•

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

•

en:madelung deformity more frequent and more severe in females

•

en:mean age of onset 22 years (range 5-54)

•

en:midline defects

•

en:lethal in males

•

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

•

en:may progress to other body regions after many years

•

en:itch, pain, and body malodor often

•

en:limb malformations are variable

•

en:isolated finding

•

en:marked intrafamilial and interfamilial variability

•

en:mean age at onset of migraines is 42 years

•

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

•

en:may be progressive

•

en:mesomelia becomes more evident with age

•

en:major cause of death is heart failure

•

en:many patients lose independent mobility after 25 years

•

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

•

en:lesions continue to grow until epiphyseal plate closure

•

en:manifests in infancy (including neonatal lethal) or childhood

•

en:female carriers may be affected

•

en:incomplete penetrance of optic atrophy

•

en:heterozygotes are not affected

•

en:heterozygous females more mildly affected than hemizygous males

•

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

•

en:inflammatory arthritis may develop in 30% of patients

•

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

•

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

•

en:increased aneuploidy in offspring

•

en:fracture frequency decreased post puberty

•

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

•

en:female carriers may be mildly affected

•

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

•

en:intermittent exacerbations

•

en:genetic heterogeneity (see 605407)

•

en:fatal before age 2 years

•

en:genetic heterogeneity (see 116800 for summary)

•

en:fractures decrease after puberty but increase after menopause

•

en:intermediate expression in females

•

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

•

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

•

en:independent ambulation is maintained

•

en:incomplete penetrance (50%)

•

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

•

en:late infantile onset 6-24 months

•

en:increased risk of early death

•

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

•

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

•

en:infections may precipitate ketotic episodes

•

en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents

•

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

•

en:incidence of 1 in 100,000 births

•

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

•

en:increased paternal age

•

en:heterozygous females may exhibit variable degrees of enzyme deficiency

•

en:gonadal and somatic mosaicism reported in parent

•

en:highly variable phenotype and severity

•

en:frequency of infections decreases after 3 years of age

•

en:full recovery after attacks

•

en:good response to steroid treatment

•

en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat

•

en:hepatic failure develops in first months of life

•

en:genetic heterogeneity (see 161800)

•

en:hair regrowth may occur later in life

•

en:incidence 8/1,000 newborns

•

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

•

en:earlier onset is associated with more rapid progression

•

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

•

en:hypersensitivity to ionizing radiation

•

en:incidence of 1 in 1.5 million births

•

en:incidence 1-1.5/1,000 live births

•

en:gradual progression

•

en:incomplete penetrance

•

en:high risk of recurrence after surgery

•

en:initial development may appear normal

•

en:diurnal fluctuation of neurologic symptoms

•

en:incidence 1 in 30,000 male births

•

en:infants are stillborn or die shortly after birth

•

en:extrapyramidal signs show a favorable response to levodopa

•

en:hypothyroidism is less severe in individuals with high dietary iodine intake

•

en:icelandic families

•

en:high frequency of levodopa-induced dyskinesias

•

en:left sided involvement occurs more frequently

•

en:increased recurrence risk with parental translocation

•

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

•

en:infants may have acute life-threatening crises

•

en:infantile onset with hepatic involvement

•

en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes

•

en:insidious onset

•

en:improvement with age

•

en:later onset may occur

•

en:majority die in neonatal period secondary to respiratory insufficiency

•

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

•

en:majority of cases have been sporadic

•

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

•

en:later onset has been reported

•

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

•

en:intrafamilial phenotypic variation may occur

•

en:incidence of 1 in 120,000 live births

•

en:lower limb involvement occurs before upper limb involvement

•

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

•

en:majority are stillborn or die in early neonatal period

•

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

•

en:late adult onset (after age 55 years)

•

en:males may be more affected than females

•

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

•

en:may regress

•

en:mean age at onset 15.2 years

•

en:inheritance pattern is unclear

•

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

•

en:may be due to imprinting defect

•

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

•

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

•

en:juvenile form has onset between 4 and 19 years

•

en:majority of patients are ambulatory

•

en:liver disease may be the most predominant finding

•

en:juvenile onset 4 years to puberty

•

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

•

en:lesions apparent at birth

•

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

•

en:interfamilial and intrafamilial clinical heterogeneity

•

en:infantile onset

•

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

•

en:in general, men have more severe disease than women

•

en:later onset (late childhood to young adult) has been reported

•

en:highly variable phenotype, some adults may be asymptomatic

•

en:lifelong occurrence

•

en:infants show normal size and appearance

•

en:levodopa-induced dyskinesias

•

en:incidence of 1 in 57,000

•

en:incidence 1 in 15,000-28,000 births

•

en:lethal

•

en:highly variable frequency and severity of attacks

•

en:incidence - 1/16,000 live births

•

en:immunologic defects are variable

•

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

•

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

•

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

•

en:life-threatening infections

•

en:incomplete penetrance with 45 to 51 repeats

•

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

•

en:lesions provoked by friction, sun exposure, heat, and injury

•

en:foot deformities are present in infancy or childhood

•

en:incomplete penetrance in carrier females

•

en:incidence of 1 in 39,000

•

en:joint laxity decreases with age

•

en:one patient reported (last curated november 2012)

◀

‹

520

en:onset of symptoms in early childhood in most patients

•

en:infections may precipitate ketotic episodes

•

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

•

en:inflammatory arthritis may develop in 30% of patients

•

en:approximately 70-80% of cases are de novo and sporadic

•

en:favorable response to 3,4-diaminopyridine

•

en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise

•

en:osteoglophonic, derived from greek meaning hollowed out

•

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

•

en:majority of cases have been sporadic

•

en:leg pain during childhood

•

en:all cases sporadic (18 males, 7 females)

•

en:age of onset usually 1 week to 2 years

•

en:independent ambulation is maintained

•

en:males tend to have earlier onset than females

•

en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene

•

en:autosomal recessive form (277720) has also been described

•

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

•

en:many patients lose independent mobility after 25 years

•

létal

•

en:patients may die in infancy or childhood due to respiratory failure

•

en:both mutations occurred de novo

•

en:two sibs from a consanguineous syrian family have been reported (last curated july 2015)

•

en:insidious onset

•

en:50% of cases represent new mutations associated with advanced paternal age

•

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

•

en:relatively mild phenotype

•

en:three fetuses from 1 family have been reported (last curated august 2015)

•

en:death may occur in infancy

•

en:lethal

•

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

•

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

•

en:onset usually in childhood or adolescence

•

en:high frequency of levodopa-induced dyskinesias

•

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

•

en:lack of treatment results in early death

•

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

•

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

•

en:life-threatening infections

•

en:liver disease may be the most predominant finding

•

en:improvement with age

•

en:majority die in neonatal period secondary to respiratory insufficiency

•

en:incidence of 1 in 120,000 live births

•

en:mean age at onset of dementia is 57 years

•

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

•

en:median age at diagnosis, 59 years

•

en:mean age of onset 50 to 52 years

•

en:mean age of onset 20.6 years

•

en:mean age of onset 16 to 19 years

•

en:mean age at onset of migraines is 42 years

•

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

•

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

•

en:median age at onset 23 years

•

rétinite pigmentaire d'apparition tardive

•

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

•

en:chronic course with exacerbations and remissions

•

en:incidence of 1 in 100,000 births

•

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

•

en:incidence 1 in 30,000 male births

•

en:based on one jordanian family (last curated august 2015)

•

en:based on one large dutch family (last curated august 2015)

•

en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth

•

en:symptoms present from infancy or early childhood

•

en:pigmentation not always butterfly-shaped

•

en:lethal in utero or perinatal lethal

•

en:high frequency hearing loss progresses to include all frequencies

•

en:recurrent episodes of liver failure during intercurrent infections

•

en:fractures can occur in utero, during labor and delivery, or in newborn period

•

en:age at onset 8 to 55 years (mean 40 years)

•

en:death in perinatal period

•

en:death secondary to respiratory infection or failure before age 2 years

•

en:deposits may recur in graft after corneal transplantation

•

en:episodes last from several hours to days

•

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

•

en:may not be clinically manifest until middle life

•

en:full recovery after attacks

•

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

•

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

•

en:infants show normal size and appearance

•

en:juvenile onset 4 years to puberty

•

en:frequency of infections decreases after 3 years of age

•

en:incomplete penetrance of optic atrophy

•

en:heterozygous females more mildly affected than hemizygous males

•

en:genetic heterogeneity (see 116800 for summary)

•

en:early death in males

•

en:may regress

•

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

•

en:internal organ rupture may occur

•

en:juvenile form has onset between 4 and 19 years

•

en:manifests in infancy (including neonatal lethal) or childhood

•

en:majority are isolated cases

•

en:mean age at onset of bone fractures, 24 years

•

en:majority of patients are stillborn or die before 5 months of age

•

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

•

en:high frequencies affected before low frequencies

•

en:madelung deformity more frequent and more severe in females

•

en:mesomelia becomes more evident with age

•

en:major cause of death is heart failure

•

en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate

•

en:highly variable expression

•

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

•

en:cardiomyopathy is not a feature

•

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

•

en:(3) adult nonnephropathic (219750)

•

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

•

en:ketogenic diet may be effective

•

en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period

•

en:onset in first decade (as early as infancy in some)

•

en:no extraocular findings

•

en:metabolic encephalomyopathic crises often triggered by infection

•

en:nine patients have been reported (last curated july 2015)

•

en:increased susceptibility to multiple carcinomas

•

en:treatment with sulfonylurea can be effective

•

en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015)

•

en:genetic heterogeneity (see mcc1 deficiency 210200)

•

en:mean age of onset in third decade

•

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

•

en:may be triggered by minor head trauma

•

en:estimated frequency 1/2000-1/4000 individuals

•

en:estimated frequence 1/3000 to 1/5000

•

en:diagnosis within the first 3 months of life

•

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

•

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

•

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

•

en:adult onset (wide range of age)

•

en:blisters are precipitated by minor skin trauma

•

en:average age at onset between 40 and 50 years

•

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

•

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

•

en:highly penetrant, but low morbidity

•

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

•

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

•

en:incomplete penetrance

•

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

•

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

•

en:late infantile onset 6-24 months

•

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

•

en:highly variable organ involvement and severity

•

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

•

en:later onset (late childhood to young adult) has been reported

•

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

•

en:incidence of 1 in 39,000

•

en:infants may have acute life-threatening crises

•

en:may be due to imprinting defect

•

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

•

en:many cases are asymptomatic

•

en:may progress to other body regions after many years

•

en:onset of lymphedema around puberty

•

en:death in infancy in 2 patients

•

en:end-stage renal failure may occur

•

en:dwarfism not detectable at birth

•

en:discordant phenotype among monozygotic twins has been reported

•

en:highly variable frequency and duration of episodes

•

en:autoimmune features are variable

•

en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015)

•

en:age of onset between 5 and 10 years of age

•

en:hearing loss occurs later if at all

•

en:cardiac examination is usually unremarkable

•

en:most patients become wheelchair-bound in the second or third decades

•

en:two sibs each from unrelated saudi arabian families reported (last curated may 2014)

•

en:initial hearing loss is mild progressing to severe or profound by the seventh decade

•

en:liveborn often die within first week of life

•

en:quinidine therapy may be effective

•

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

•

en:approximately 50% of patients have situs inversus

•

en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty

•

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

•

en:clinical and biochemical abnormalities disappear with age

•

en:congenital onset

•

en:average onset of seizures 6 months (range 3-12)

•

en:average disease duration of 7 years

•

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

•

en:allelic to metaphyseal dysplasia without hypotrichosis (250460)

•

en:allelic disorder to benign hereditary chorea (118700), which is less severe

•

en:gastric suction pump, home model, portable or stationary, electric

•

en:joint laxity decreases with age

•

en:left side involvement more frequent than right side involvement

•

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

•

en:males may be more affected than females

•

en:infantile onset with hepatic involvement

•

en:incidence 8/1,000 newborns

•

en:incidence - 1/16,000 live births

•

en:lesions apparent at birth

•

en:fatal before age 2 years

•

en:increased aneuploidy in offspring

•

en:increased paternal age

•

en:death in fourth to fifth decade

•

en:live born infants die within few hours of birth

•

en:one lebanese family has been reported

•

en:increased sensitivity to valproic acid toxicity

•

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

•

en:median survival 5.7 years

•

en:may fade with age

•

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

•

en:male to female ratio 4:1

•

en:female carriers may show intermittent hematuria

•

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

•

en:may be progressive

•

en:may be lethal in the neonatal period

•

en:asymmetric muscle involvement

•

en:highly variable phenotype, even within families

•

en:retinitis pigmentosa

•

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

•

en:intrafamilial variability in number of missing teeth

•

en:compound heterozygosity common

•

en:age at onset from 3 to 51 years (mean 19.2 years)

•

en:asymptomatic patients may show changes on sd-oct

•

en:elevated body temperatures to 42 degrees celsius

•

en:seizures remit spontaneously by age 5 years

•

en:family a had a severe multisystem disorder resulting in death before age 2 years

•

en:first fracture in early childhood

•

en:precipitation by pregnancy

•

en:many adults with typical form remain ambulatory

•

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

•

en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures)

•

en:abnormal sensitivity to therapeutic radiation

•

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

•

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

•

en:two families with confirmed adra2b mutations have been reported (last curated june 2015)

•

en:attacks more common in women

•

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

•

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

•

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

•

en:adrenal insufficiency usually develops later (first decade)

•

en:carrier females show no phenotypic abnormalities, but may have learning difficulties

•

en:early death may occur

•

en:clinical presentation varies from asymptomatic to fulminant course

•

en:death from pneumonia

•

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

•

en:death before age 40

•

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

•

en:diarrhea worsens in parallel with increases in severity of skin disease

•

en:lesions continue to grow until epiphyseal plate closure

•

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

•

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

•

en:later onset has been reported

•

en:incidence of 1 in 57,000

•

en:later onset may occur

•

en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes

•

en:interfamilial and intrafamilial clinical heterogeneity

•

en:lifelong occurrence

•

en:mean age at onset 32 years

•

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

•

en:marked intrafamilial and interfamilial variability

•

en:major fluid shifts may occur in severe cases

•

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

•

en:may have seasonal variance in severity

•

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

•

en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features

•

en:majority of cases (95%) are sporadic

•

en:mean age of diagnosis 40 years

•

en:heterozygous females may have situs inversus or other midline defects

•

en:fishy body odor

•

léthal

•

rétinite pigmentaire, surdité, retard mental, et hypogonadisme

•

en:infantile onset

•

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:associated with increased frequency of autoimmune diseases

•

en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents

•

en:based on report of 4 patients from 1 family (last curated july 2015)

•

en:affected individuals may have more than 1 cardiac structural defect, or none at all

•

en:late-adult onset

•

en:onset of overgrowth in the first year of life (in most cases)

•

en:marked intrafamilial variability of clinical features

•

en:hearing loss occurs in late childhood

•

en:mean age at onset of cerebellar ataxia is 52.8 years

•

en:liver symptoms improve with age and disappear after puberty

•

en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years)

•

en:associated with smoking

•

en:child often can sit unsupported but never ambulates

•

en:diurnal fluctuation

•

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

•

en:death often occurs in childhood

•

en:favorable response to ephedrine treatment

•

en:hands clenched at birth but loosen in infancy

•

en:hyperkeratosis often present at birth but may appear later

•

en:gonadal and somatic mosaicism reported in parent

•

en:extrapyramidal signs show a favorable response to levodopa

•

en:anemia is responsive to corticosteroid treatment

•

en:majority are stillborn or die in early neonatal period

•

en:majority of cases are male

•

en:increased male to female ratio (7.5:1)

•

en:mean age at onset 15.2 years

•

en:late adult onset (after age 55 years)

•

en:incomplete penetrance (50%)

•

en:incomplete penetrance in carrier females

•

en:foot deformities are present in infancy or childhood

•

en:highly variable phenotype, some adults may be asymptomatic

•

en:left sided involvement occurs more frequently

•

en:increased risk of early death

•

en:incidence 1 in 8,000 live births

•

en:later onset can also occur (up to age 17 years)

•

létale

•

en:marked clinical variability within families

•

en:median age of onset of nail dystrophy - 7 years (range 1-6 years)

•

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

•

en:majority of cases sporadic

•

en:maternal imprinting

•

en:loss of tumor suppressor gene

•

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

•

en:mean age at onset 10.6 years

•

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

•

en:mean age of onset 22 years (range 5-54)

•

en:isolated finding

•

en:later onset of neurologic features

•

en:incidence of 1 in 1.5 million births

•

rétinite pigmentaire et retard mental

•

en:incidence 1-1.5/1,000 live births

•

en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat

•

en:hair regrowth may occur later in life

•

en:a milder form has also been reported

•

en:one patient reported (last curated november 2012)

•

en:age of onset varies ranging from 3 weeks to 22 years

•

en:affected individuals have a relatively mild ichthyosis phenotype

•

en:highly variable severity and features

•

en:onset of visual dysfunction in early childhood

•

en:one family and 2 unrelated patients have been reported (last curated december 2015)

•

en:disease shows slow progression

•

en:absence seizures show onset between 3.5 and 4 years

•

en:allelic to hydropic and prenatally lethal chondrodystrophy (215140)

•

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

•

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

•

en:adult onset has been reported

•

en:all features are unilateral

•

en:inflammatory bowel disease may develop in childhood or adolescence

•

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

•

en:excessive postsurgical blood loss

•

en:bleeding is usually delayed-onset after challenge

•

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

•

en:hyperthermia in early childhood

•

en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only

•

en:familial occurrence is rare

•

en:hepatomegaly improves with age and disappears around puberty

•

en:early death (usually by 3 years of age)

•

en:death due to rapidly progressive pulmonary fibrosis in infancy

•

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

•

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

•

en:average age at diagnosis 17.8 years (range 2-35 years)

•

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

•

en:intermediate expression in females

•

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

•

en:incidence 1 in 15,000-28,000 births

•

en:incomplete penetrance with 45 to 51 repeats

•

en:majority of patients are ambulatory

•

en:intrafamilial phenotypic variation may occur

•

en:lower limb involvement occurs before upper limb involvement

•

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

•

en:majority of patients have normal intelligence

•

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

•

en:marked heterogeneity

•

en:mean survival 5 months

•

en:mean age of onset 35-40 years

•

en:median age of diagnosis is 28 years

•

en:may show good response to levodopa

•

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

•

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

•

en:maternal anticipation bias

•

en:joint symptoms begin in third or fourth decade

•

en:some patients may show normal early development before seizure onset

•

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

•

en:genetic heterogeneity (see 605407)

•

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

•

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

•

en:excessive skin picking of sores

•

en:exacerbated by stress

•

en:therapy is placement of implantable cardioverter defibrillator (icd)

•

en:onset in first decade after normal early development

•

en:majority of children die before age 2

•

en:late-adult onset has been reported

•

en:medial onset of end stage renal disease 13 years

•

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

•

en:cutaneous symptoms induced by cold exposure or cooling

•

en:surviving males are postzygotic mosaic for ebp mutations

•

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

•

en:initial development may appear normal

•

en:facial dysmorphic features are mild

•

en:icelandic families

•

en:infants are stillborn or die shortly after birth

•

en:diurnal fluctuation of neurologic symptoms

•

en:hypersensitivity to ionizing radiation

•

en:hip joint replacement often necessary

•

en:highly variable phenotype, ranging from asymptomatic to severe

•

en:eye involvement begins at birth, neurologic involvement begins later

•

en:early death due to sepsis

•

en:incidence of 1 in 3,500 boys

•

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

•

en:lower limb weakness is presenting feature

•

en:may be asymptomatic

•

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

•

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

•

en:immunologic defects are variable

•

en:highly variable frequency and severity of attacks

•

en:lesions provoked by friction, sun exposure, heat, and injury

•

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

•

en:levodopa-induced dyskinesias

•

en:in general, men have more severe disease than women

•

en:intermittent exacerbations

•

en:fractures decrease after puberty but increase after menopause

•

en:limb malformations are variable

•

en:long headache duration (greater than 12 hours)

•

en:length of attack, 3 to 7 days

•

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

•

en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20%

•

en:many patients become wheelchair-bound

•

en:mean age at onset 57-60 years

•

en:mean age of onset about 62 years (45-79 years)

•

en:highly variable clinical phenotype

•

en:mean age at onset 35 years (range 20-60)

•

en:midline defects

•

en:heterozygotes are not affected

•

en:four patients from 3 families have been reported (last curated march 2016)

•

en:no consistent dysmorphic facial phenotype

•

rétinite pigmentaire liée à la périphérine

•

rétinite pigmentaire

•

en:female carriers may be mildly affected

•

en:high recurrence rate

•

en:hypothyroidism is less severe in individuals with high dietary iodine intake

•

en:may occur in adults (also in pregnancy)

•

en:high risk of recurrence after surgery

•

en:some patients have onset in second decade of life

•

en:based on one sib pair each in their seventies

•

en:weakness during pregnancy in some affected females has been reported

•

en:incomplete penetrance in some families

•

en:retinal holes were present in an asymptomatic female carrier

•

en:onset of night blindness varies among patients from early childhood to mid thirties

•

en:penetrance estimated to be 80%

•

en:variable severity of clinical and radiologic manifestations

•

en:median survival is > 50 years

•

en:manifestations continue to appear until 5th decade

•

en:age at onset 14 to 44 years

•

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

•

en:adult onset

•

en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance

•

en:death in majority of infants soon after birth

•

en:facial palsy often transient in infancy

•

en:earlier onset is associated with more rapid progression

•

en:childhood onset

•

en:genetic heterogeneity (see 161800)

•

en:hepatic failure develops in first months of life

•

en:heterozygous females may exhibit variable degrees of enzyme deficiency

•

en:few familial (parent offspring) cases reported

•

en:highly variable phenotype and severity

•

en:death usually in childhood

•

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

•

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

•

en:distinct from pseudopili annulati (613241)

•

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

•

en:death in infancy secondary to respiratory insufficiency/pneumonia

•

en:death secondary to renal failure, cardiac or cerebrovascular disease

•

en:fracture frequency decreased post puberty

•

en:gradual progression

•

en:good response to steroid treatment

•

en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea

•

en:female carriers may be affected

•

en:genetic heterogeneity (see 609192)

•

en:great variation in extent of hypertrophy in mutation-positive individuals

•

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

•

en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930)

•

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

•

en:lethal in males

•

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

•

en:inheritance pattern is unclear

•

en:mean age of onset 31 years (range 5-60)

•

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

•

en:mean age at onset 28 years

•

en:itch, pain, and body malodor often

•

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

•

en:male predominance of 3:1 to 5:1

•

en:mean age of onset, 5 years

•

en:mean age at termination 3 to 4 years

•

rétinite pigmentaire liée à la rhodopsine

•

en:based on report of 2 sibs in 2008

•

en:earlier onset is associated with a more severe disorder

•

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

•

en:death usually in first year of life

•

en:infantile form accounts for 90% of cases

•

en:carrier females may have mild intellectual disability

•

en:based on report of 2 individuals (last curated november 2013)

•

en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported

•

en:two sibs have been reported (last curated november 2015)

•

en:early adult onset has been reported

•

en:clinical variability, both pure and complicated forms

•

en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms

•

en:can also be caused by contiguous gene deletion on chromosome 22q11.2

•

en:skewed x-inactivation, with complete skewing in some individuals

•

en:age of onset ranges from 1 to 47 years

•

en:associated with advanced paternal age

•

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

•

en:adult onset (20 to 50 years)

•

en:autosomal recessive disorder tends to be more severe

•

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

•

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

•

en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood

•

en:age of onset/diagnosis 12-35 years

•

en:associated with hemodialysis

•

en:death usually in newborn period or infancy

•

rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr)

•

rétinite pigmentaire liée à la périphérine (pro219leu)

•

rétinopathie pigmentaire

•

rétinite pigmentaire sénile

•

rétinite pigmentaire liée au sexe récessive 3

•

patients

•

rétinite pigmentaire (classification de Fishman)

•

atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré

•

quadriplégie spastique, rétinite pigmentaire et retard mental

•

Lester (signe de)

•

Létal

•

Rétinite pigmentaire

◀

Génériques

[F] [H]

›

en:reported

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9090959 • caches: c1=8 c2=524 c3=521

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