Le Diko - en:heterozygous females more mildly affected than hemizygous males

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Le Diko - en:heterozygous females more mildly affected than hemizygous males

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en:heterozygous females more mildly affected than hemizygous males

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

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

•

en:heterozygous females may exhibit variable degrees of enzyme deficiency

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

•

en:onset in infancy or childhood

•

en:onset in childhood (mean 6 years)

•

en:onset and diagnosis may occur later (after age 20 years)

•

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

•

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

•

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

•

en:mliii is a heterogeneous disorder

•

en:manifestations of cushing syndrome may be mild

•

en:later onset associated with milder severity has been reported

•

en:genetic heterogeneity (see 266900 for summary)

•

en:onset of proteinuria in the third to fourth decades

•

en:favorable response to antiepileptic medication

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en:end-stage renal failure may occur

•

en:common in japan and other asian populations

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

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en:childhood onset has been reported in 1 family

•

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

•

en:allelic disorder to cmt4a (214400)

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

•

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

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en:onset usually associated with febrile illness

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en:onset in second to fifth decade

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

•

en:patients with longer disease duration show motor neuron involvement

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en:amelioration with age

•

en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene

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

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en:most patients need assistance walking or are wheelchair-bound

•

en:more frequent in females

•

en:loss initially affects mid and high frequencies

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en:increased abortuses of homozygous or compound heterozygous fetuses

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en:heterozygous females may have gout and/or sensorineural deafness

•

en:gms is goniodysgenesis, mental deficiency, and short stature

•

en:death often in childhood

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

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en:aortic dissection may occur in second decade of life

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en:excessive postsurgical blood loss

•

en:pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations

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en:allelic disorder to the zlotogora-ogur syndrome (225000)

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en:allelic disorder to autosomal recessive form (224900)

•

en:75% of affected individuals are female

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

•

en:treatment with dichloroacetate (dca) prolongs survival

•

en:reported in a large hutterite family

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en:relatively mild phenotype

•

en:reduced penetrance in females

•

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

•

en:presentation between 6-18 months

•

en:prevalent in bulgarian gypsies

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en:onset before 50 years of age

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en:onset from first to third decades of life

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en:onset of visual loss in the first or second decades

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en:patients younger than 30 years complain only that they cannot run fast

•

en:warm weather and alcohol are alleviating factors

•

en:see also leptin deficiency (614962) and summary information in bmiq1 (606641)

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en:two unrelated boys have been reported (last curated october 2015)

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en:variable expression of features

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en:variable number of nails involved

•

en:onset - present at birth

•

en:onset 10-20 years of age

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en:approximately 50db loss in adulthood

•

en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015)

•

en:one family has been reported (last curated march 2016)

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en:no response to phenobarbital

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en:lipodystrophic appearance may be mild or not present

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

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

•

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

•

en:episodes last from several hours to days

•

en:distinct disorder from familial limb-girdle myasthenia (254200)

•

en:death due to rapidly progressive pulmonary fibrosis in infancy

•

en:candidiasis is usually the first symptom

•

en:attack frequency may occur several times per week to once per year

•

en:acetazolamide is often effective

•

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

•

en:not all patients have a myopathy

•

en:age of onset within the first years of life

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

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

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en:two families reported (last curated september 2012)

•

en:see also congenital stiff person syndrome (149400)

•

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

•

en:onset of symptoms usually between 12-15 years

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en:onset of spastic paraplegia in first year of life

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

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en:onset of proteinuria in the second to fourth decades

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en:onset of muscle weakness in late adulthood

•

en:onset in the fourth to sixth decades (mean 40 years)

•

en:two probands have been reported

•

en:onset in the first 2 years of life

•

en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population

•

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

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

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en:often associated with klippel-feil anomaly (118100)

•

en:allelic to cowden disease (158350), which has a later age at onset

•

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

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

•

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

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

•

en:genomic duplications occur de novo

•

en:maternal imprinting

•

en:neurologic features occur in adulthood

•

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

•

en:oculomotor apraxia is not always present

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en:worldwide prevalence of 1/100,000

•

en:onset early childhood

•

en:visual acuity varies from 20/20 to no light perception

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en:severe, early-onset, usually within the first days of life, with cardiomyopathy and early death

•

en:see also facial hemihypertrophy (133900)

•

en:prevalence of 1 in 30,000 in northern europe

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en:phenotypic variability, intrafamilial

•

en:onset usually in infancy although later onset may occur

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en:onset of symptoms 2-6 years of age

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en:onset of dystonia is in childhood

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

•

en:onset birth to early infancy

•

en:may be progressive

•

en:majority of cases in japan

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en:lethal in 40% of patients

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en:hearing loss may be stable or progressive

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en:childhood onset (range birth to 12 years)

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en:based on one report of brother and sister

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

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

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

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en:affected girls have de novo heterozygous mutations consistent with x-linked dominant inheritance

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en:adult onset (mean 60 years)

•

en:this patient died at age 8 months

•

en:allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c (601596)

•

en:normal at birth

•

en:allelic to marshall syndrome (154780)

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

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

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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 females have only deafness and ovarian dysgenesis without neurologic abnormalities

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en:see also simpson-golabi-behmel syndrome 1 (sgbs1, 312870)

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en:relatively slow progression

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en:prevalence in caucasians is 1 in 1,000,000

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en:onset of febrile seizures typically between 6 months and 6 years of age

•

en:no phenotypic manifestations

•

en:some patients have an attenuated phenotype

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en:most patients become wheelchair-bound in adolescence or as young adults

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

•

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

•

en:autosomal recessive inheritance has been reported (see 601253.0010)

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en:death often occurs during metabolic/acidotic crisis

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en:clubfoot is bilateral in most patients

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en:incidence 1 in 50,000-100,000 in western europe

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en:incidence 1 in 8,000 live births

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en:incidence of 1 in 300,000

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en:intrafamilial variability in nail changes

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en:associated with increased paternal age

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

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en:neonatal/infantile death in most patients

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

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en:may be exacerbated by febrile illness

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en:more commonly observed in women

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

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

•

en:pathogenic alleles contain 52 to 86 repeats

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en:occurs in full-term infants

•

en:onset between 10 and 20 years of age

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en:onset in childhood or young adulthood

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en:onset of symptoms in fifth decade

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en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both

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en:prevalence approximately 1 in 4,000 males

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en:prevalence is estimated to be 1 in 150,000

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en:high frequency in finnish population

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en:limb malformations are variable

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en:chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies

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en:highly variable organ involvement and severity

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

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en:seizure onset in first months or years of life

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en:46,xy carriers are unaffected

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

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en:adult onset (27 to 48 years)

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

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en:allelic to sialuria, finnish type (604369)

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

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en:decrease in seizure frequency in middle age

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

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

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en:episodic decompensation is usually triggered by illness

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

•

en:forty percent of patients die in the first year

•

en:genetic heterogeneity (see cmt4b2, 604563)

•

en:genetic heterogeneity (see pfic1, 211600)

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en:gonadal mosaicism reported

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en:renal anomalies are not always present

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

•

en:some patients do not have dysmorphic features

•

en:pancreatic endocrine abnormalities reported in 1 family only

•

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

•

en:joint dislocations become less frequent with age

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

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en:mortality approximately 20% in first 2 years

•

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

•

en:onset in teens has been reported

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

•

en:prevalence is estimated to be 1 in 1,100,000

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en:hearing impairment may improve with age

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en:prevalence of 1 in 1,429 in tanzania

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en:reduced fetal movement

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

•

en:see also erythrocytosis 1 (ecyt1, 133100)

•

en:severe neurodegenerative course resulting in a comatose state or death

•

en:two unrelated patients had multiple congenital anomalies and died in early infancy

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

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en:incomplete age-dependent penetrance

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en:stillborn or death in infancy

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en:genetic heterogeneity (see psnp1 601104)

•

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

•

en:genetic heterogeneity (see cmtdia 606483)

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en:three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult

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en:variable severity, correlates with age at onset

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

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

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

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en:allelic disorder to hyperkalemic periodic paralysis (hypp, 170500)

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en:two main phenotypes, severe and mild

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en:associated specifically with the gba d409h mutation (606463.0006)

•

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

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en:charcot-marie-tooth disease type 2l (cmt2l, 608673) is an allelic disorder with an overlapping phenotype

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en:clinical variability, both pure and complicated forms

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en:dysmorphic features may be subtle

•

en:features are variable

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en:genetic heterogeneity, see spg3a (182600)

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

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en:highly variable severity of muscle weakness

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en:incidence 1 in 300,000 in japan

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en:marked clinical heterogeneity

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en:most patients become wheelchair-bound

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en:occurs in ~3% pregnancies in western populations

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

•

en:patients may show normal development

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en:onset of peripheral neuropathy or hearing loss in young adulthood (range 16 to 35 years)

•

en:onset usually in first month of life

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en:onset usually in the third decade (range 11 to 50 years)

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

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

•

en:prevalence in poland is 1 in 129,000

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

•

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

•

en:highly variable frequency and duration of episodes

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en:common (up to 7% of the population)

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en:hearing loss is variable

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en:blindness episodes are not associated with fhm episodes

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

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en:affected females have apparently normal puberty but later develop secondary amenorrhea with anovulatory cycles

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en:allelic disorder to familial hypertrophic cardiomyopathy (cmh, 192600) and laing distal myopathy (160500)

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en:appear normal at birth

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en:at birth, there is generalized red scaly skin

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en:autosomal recessive inheritance has been reported

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en:cardiac and pulmonary dysfunction normalize in the first year of life

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en:genetic heterogeneity (see 116800 for summary)

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en:carrier females are unaffected

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en:death in first days of life (family b)

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en:favorable response to oral creatine treatment

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en:female preponderance

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en:founder effect in irish traveler population

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en:four patients have been reported

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

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en:three unrelated caucasian patients have been reported (as of january 2012)

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en:heterozygous deletion of the terminal band 22q13.3 including shank3 (606230)

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en:treatment with tnf inhibitors may be beneficial

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en:some patients may show deterioration with infections

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en:onset of seizures between 9 and 12 months of age

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en:persistent bleeding after injury or surgery

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en:presentation at 3-6 weeks of age

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

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

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en:skin manifestation less frequently observed in cold climates

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en:symptoms may decrease after age 30 years

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

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en:tendency to lighter pigmentation than unaffected relatives

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

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

•

en:variable age at onset (infant to adult)

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

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en:visual impairment is present at birth and is progressive

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

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en:onset in first 2 decades

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

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en:most severe type of von willebrand disease

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

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en:many cases due to de novo mutation

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

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en:affected males are somatic mosaic for mutations

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en:allelic disorder to child syndrome (308050)

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en:anemia is not responsive to pyridoxine supplementation

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en:autosomal dominant with complete penetrance

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en:autosomal recessive inheritance has been reported in 1 family

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en:approximately 25% have a severe course and die of respiratory failure

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en:caused by somatic mutations

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

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en:death usually in infancy due to respiratory failure

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en:endocrine defects evolve over time

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

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

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

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en:males more frequently have severe lesions

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en:range of onset 11 to 50 years

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en:occurs most often in developing countries in tropical regions

•

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

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en:presents at a later stage than sporadic wilms tumor

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

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en:response to benadryl (diphenhydramine)

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en:symptoms precipitated by sudden movements

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en:some familial occurrence, most de novo aberrations

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

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en:most common subtype of frontotemporal dementia (600274)

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en:cataracts variably present at birth

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en:left sided involvement occurs more frequently

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en:kid syndrome and hid syndrome are identical at the molecular level

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en:gastrointestinal anomalies are not always present

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en:extremely variable phenotype

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

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

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

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en:cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption

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

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en:attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes

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en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:benign condition

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

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en:incidence worldwide of 1 in 30,000 to 50,000

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en:death before age 3 years

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en:persistent exposure to fructose leads to chronic liver and kidney complications

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en:elevated afp can be seen in other disorders

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

•

en:variable phenotype within families

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en:usually sporadic

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

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en:two sibs died before 2 years of age

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

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

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en:seizures usually remit spontaneously by 12 months of age

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en:see also hmn2b (608634)

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

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en:onset usually in young adulthood

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en:lower limb involvement precedes upper limb involvement

•

en:epiphyseal stippling is gone by 8 months of age

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en:one patient was less severely affected

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en:female carriers may have hearing loss and/or subclinical peripheral neuropathy

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en:genetic heterogeneity, see lgmd2a (253600)

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en:favorable response to alcohol

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

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en:mean age at onset of dementia is 57 years

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

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

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en:one of the most common autoimmune diseases

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en:onset ranges from young adulthood to sixties

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en:about 25% of cases due to new mutations

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

•

en:variable expressivity, even within families

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en:variable age of onset (childhood to adult)

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en:spontaneous reversal of gnrh deficiency may occur in some patients

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en:severe hypertension develops in childhood

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

•

en:see also mmab (251110)

•

en:prevalent among patients of asian descent, particularly japanese

•

en:onset usually in childhood (range 17 months to 39 years)

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

•

en:onset of skin lesions at birth

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en:onset of gastrointestinal tumors typically occurs in the second decade

•

en:onset before age 5 years in the absence of instruction

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

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en:motor neuropathy more prominent than sensory neuropathy

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

•

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

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

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en:female mutation carriers have earlier age at onset compared to male mutation carriers

•

en:dramatic late catch-up growth occurs in adolescence

•

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

•

en:based on report of 2 consanguineous pakistani families (last curated march 2016)

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en:about a dozen patients have been reported (as of march 2012)

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en:onset in late childhood or early teens

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en:adult onset (range 34 to 66 years)

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en:poor outcome

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en:two unrelated patients reported (last curated september 2012)

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

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

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

•

en:subset of patients have leigh syndrome (256000)

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en:some patients have a milder nonprogressive phenotype

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en:somatic mosaicism has been observed in some patients

•

en:skin lesions improve in the summer

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en:seizure severity and frequency tend to improve with age

•

en:see also autosomal dominant fmf (134610), caused by heterozygous mutations in the mefv gene

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

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

•

en:affected females are infertile

•

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

•

en:onset in first days of life

•

en:allelic disorder to nieman-pick disease type b (607616)

•

en:aura may occur

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en:based on report of 4 unrelated patients (last curated january 2016)

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en:early death without kidney transplant

•

en:highly variable expressivity within families

•

en:incidence of 1 in 120,000 live births

•

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

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en:no extraocular findings

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

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

•

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

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en:presentation after 6 months

•

en:prevalence 1-2% in northern european populations

•

en:prevalence 1 in 1,250

•

en:see also the autosomal recessive form (243000)

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en:age of onset 23-59 years

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en:symptoms usually last 30-60 minutes

•

en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features

•

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

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

•

en:variable age at onset, mostly in third decade (range teenage years to fourth decade)

•

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

•

en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015)

•

en:onset 6 to 30 years

•

en:age of onset 5 to 22 years (mean 6.9)

•

en:no clinical manifestations were noted (incidental laboratory finding)

•

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:multiple spontaneous abortions in obligate carriers

•

en:most patients die of renal failure in early adulthood

•

en:intolerant of heat

•

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

•

en:incidence of 1 in 20,000 live births

•

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

•

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

•

en:genetic heterogeneity (see bscl2, 269700)

•

en:evidence of prenatal fractures

•

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

•

en:associated with deletion at chromosome 2q37

•

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

•

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

•

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

•

en:nonsyndromic disorder

•

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

•

en:patients with medication-resistant hypertension require bilateral adrenalectomy

•

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

•

en:no family history of

•

en:one consanguineous family with a recessive mutation has been reported (last curated june 2015)

•

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

•

en:onset of seizures in infancy

•

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

•

en:reduced exercise tolerance

•

en:most patients have contiguous gene deletion syndrome involving xp22

•

en:residual neurologic deficits are slowly progressive

•

en:severe disorder

•

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

•

en:symptoms present as acute metabolic and clinical decompensation associated with infection

•

en:axial skeleton most commonly affected

•

en:two subtypes noninflammatory type a and inflammatory type b

•

en:natural aversion to carbohydrates

•

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

•

en:most individuals are asymptomatic

•

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

•

en:based on 2 cousins in a consanguineous family (last curated august 2015)

•

en:carrier males are fertile

•

en:based on one sib pair each in their seventies

•

en:death frequent in severe infantile form

•

en:early death in some patients due to cardiorespiratory involvement

•

en:estimated gene carrier frequency of 1 in 5,000

•

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

•

en:genes involved in duplication include atg2b (616226), gskip (616605), tcl1a (186960), bdkrb1 (600337), bdkrb2 (113503), and ak7 (615364)

•

en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012)

•

en:heterozygotes may be at increased risk for infection or atypical hemolytic uremic syndrome (235400)

•

en:loss of independent walking by teenage years (in some)

•

en:male-limited trait

•

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

•

en:most affected patients die in childhood

•

en:variable phenotypic expression within same individual in each eye (in some patients)

•

en:visceral manifestations are less apparent

•

en:some patients may need surgery or renal transplant

•

en:virtually all patients are female

•

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

•

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

•

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

•

en:variable features and severity

•

en:variable facial dysmorphic features

•

en:variable expression and severity

•

en:variable age at onset (range 6 to 54 years)

•

en:variable age at onset (birth to adult)

•

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

•

en:service comment 47:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:birth date:time stamp -- date and time:point in time:^patient:quantitative

•

en:performing laboratory phone:tele:pt:facility:nom

•

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

•

en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:adult onset (45 to 76 years)

•

en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:blood glucose monitor with integrated lancing/blood sample

•

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

•

en:abnormal morphogenesis of first and second branchial arches

•

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

•

en:adults may be asymptomatic

•

en:variable age at onset, from first decade to fourth or fifth decade of life

•

en:variable age at onset, ranging from prelingual at birth to fifth decade

•

en:two thirds of patients are female

•

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

•

en:two presentations - rapid, fatal disorder of infancy and slowly progressive muscular disorder of childhood

•

en:affected individuals are highly prone to burn-related injuries

•

en:some patients may show a favorable response to oral coenzyme q10 supplementation

•

en:some phenotypic overlap with rett syndrome (312750)

•

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

•

en:sporadic occurrence is associated with advanced paternal age

•

en:symptoms relieved by ovarian suppression

•

en:symptoms vary according to location of tumor

•

en:symptom onset ranges from infancy to adulthood

•

en:thoracic abnormalities tend to improve with age

•

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

•

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

•

en:trps2 (langer-giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both trps1 (190350) and ext1 (608177) genes

•

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

•

en:two subtypes based on pathologic findings of 'balloon cells' - type iia, absence of balloon cells and type iib, presence of balloon cells

•

en:usually occurs in young adults

•

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

•

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

•

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

•

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

•

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

•

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

•

en:two unrelated patients with different phenotypes have been reported (as of march 2012)

•

en:type iiib liver involvement only (15% of all cases)

•

en:u-shaped pattern of temperature-dependent potassium flux (in some patients)

•

en:uniparental disomy

•

en:unusual skill with jigsaw puzzle

•

en:up to 25% of patients are asymptomatic or mildly affected, suggesting incomplete penetrance

•

en:usher syndrome type iii (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus

•

en:usually asymptomatic

•

en:adult onset (thirties to forties)

•

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

•

en:affected individuals have amnesia for events

•

en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis

•

en:based on report of 1 large 6-generation family (last curated july 2015)

•

en:based on report of 2 probands (last curated october 2014)

•

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

•

en:bimodal age of onset

•

en:birth incidence approximately 5.1 per million live births

•

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

•

en:carrier females may have mild features

•

en:carrier females show no clinical phenotype

•

en:carrier frequency in finland 1/40

•

en:some patients may be clinically asymptomatic

•

en:clinical features may vary

•

en:cold-induced sweating develops late in the first decade

•

en:contiguous gene deletion syndrome (in most patients)

•

en:death at 13 to 30 years

•

en:based on one patient (last curated february 2015)

•

en:death in childhood occurs without bone marrow transplantation

•

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

•

en:death occurs 5 to 10 years after onset

•

en:death often in infancy

•

en:death usually occurs in childhood

•

en:death usually within first weeks of life

•

en:deletions in naip gene (600355) found in 18% of sma2 patients

•

en:described in 6 japanese families

•

en:described in families from western japan

•

en:diabetes mellitus develops in adolescence

•

en:disease course depends on age at onset

•

en:distinct disorder from familial erythrocytosis (ecyt1, 133100)

•

en:diurnal fluctuation

•

en:early childhood lethality may occur

•

en:based on report of 1 family (last curated december 2012)

•

en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014)

•

en:affected infants appear normal

•

en:allelic to robinow syndrome, autosomal recessive (268310)

•

en:affected infants die in neonatal period

•

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

•

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

•

en:age of onset 5 to 19 years

•

en:age of onset between 6 and 45 years of age

•

en:alcohol may alleviate symptoms

•

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

•

en:allelic disorder to silver syndrome (270685), but distinguished by lack of spasticity

•

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

•

en:allelic to aicardi-goutieres syndrome (225750)

•

en:allelic to diastrophic dysplasia (222600), atelosteogenesis, type ii (256050), and achondrogenesis, type ib (600972)

•

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

•

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

•

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

•

en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900)

•

en:basal cell neoplasms develop after second decade

•

en:all features are unilateral

•

en:alpha thalassemia-mental retardation syndrome

•

en:ambulation is usually maintained during adulthood

•

en:apparent in newborn at birth

•

en:approximately 50% of patients have situs inversus

•

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

•

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 a balanced translocation t(12,22)(p11.2,q13.3)

•

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

•

en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later

•

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

•

en:autosomal recessive inheritance has been described in 2 families

•

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

•

en:autosomal recessive inheritance with earlier onset has been suggested

•

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

•

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

•

en:some patients may become bedridden 10 to 20 years after onset

•

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

•

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

•

en:normal alleles have 4 to 18 repeats

•

en:not responsive to steroid treatment

•

en:no family history, de novo mutations

•

en:nystagmus is often the presenting sign

•

en:often results in death in childhood

•

en:one 3-generation korean family and one father daughter have been reported (last curated august 2013)

•

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

•

en:one consanguineous arab israeli family has been reported (last curated february, 2013)

•

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

•

en:one consanguineous italian family has been reported (last curated august 2015)

•

en:one family (4 affected members) has been reported (last curated july 2012)

•

en:one family has been reported

•

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

•

en:neurologic signs last hours to days

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:onset 7 to 15 months of age

•

en:onset around age 2 years

•

en:onset at 2 to 4 years

•

en:onset between ages 10 and 25 years

•

en:onset between ages 16-55

•

en:onset birth to 6 months

•

en:onset in childhood with exacerbation during puberty

•

en:noise exposure causes more severe hearing loss at high frequencies (2,000 to 8,000 hz)

•

en:neonatal onset of nephrotic syndrome

•

en:onset in early infancy

•

en:may progress to upper limbs

•

en:echocardiogram and ophthalmologic examination normal

•

en:lysosomal storage vacuoles in trachea, liver, cartilage, and heart

•

en:madelung deformity more frequent and more severe in females

•

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

•

en:major fluid shifts may occur in severe cases

•

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

•

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

•

en:many cases result from de novo mutations

•

en:many patients are asymptomatic

•

en:marked intrafamilial variability of clinical features

•

en:marshall syndrome is allelic to stickler syndrome, type 2 (604841)

•

en:may be triggered by increased practice

•

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

•

en:mean age at diagnosis is 38 years(range 11-63 years)

•

en:most remit by 2 months

•

en:mean age at onset 32 years

•

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

•

en:mean age of onset 18 years

•

en:mean age of onset 50.2 years

•

en:mean age of onset 56 years

•

en:median age of diagnosis - 15 years

•

en:melnick-needles syndrome (mns, 309350) is an allelic disorder

•

en:milder expression in female heterozygotes

•

en:minimum duplication includes bhlha9 (615416)

•

en:more than half of patients develop retinal detachments and/or retinoschisis later in life

•

en:most cases are caused by mutation in the phox2b gene

•

en:most cases are responsive to steroids

•

en:most cases due to de novo mutation

•

en:most patients are from finland

•

en:onset in early childhood (infancy to 6 years)

•

en:onset in fifties or sixties

•

en:some patients have onset in second decade of life

•

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

•

en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006)

•

en:prevalent in arabic, turkish, armenian, and sephardic jewish populations

•

en:progressive disease

•

en:progressive disorder that may become stable in young adulthood

•

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

•

en:recessive inheritance is rare

•

en:recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea

•

en:renal failure in second or third decade

•

en:see also adult-onset stiff person syndrome (184850)

•

en:see also autosomal dominant form (128230)

•

en:see also cblc (277400)

•

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

•

en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features

•

en:seizures, recurrent, refractory

•

en:prevalence of 0.5 to 1 in 1,000

•

en:seizures usually remit in adolescence

•

en:seizure onset at a mean of 14 months (range 6 to 36 months)

•

en:sensorineural hearing loss may be presenting feature

•

en:seventy percent of cases have associated anomalies

•

en:sexual infantilism

•

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

•

en:sister of affected male siblings had mild learning disabilities and obesity

•

en:six patients reported (last curated march 2015)

•

en:skin wrinkling improves with age

•

en:slight male predominance (3:2)

•

en:some patients do not show neurologic abnormalities or dysmorphic features

•

en:some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age

•

en:some patients have no neurologic abnormalities

•

en:some patients have only ambiguous genitalia or other evidence of disordered steroidogenesis

•

en:prevalence of 1 in 10,000 caucasians

•

en:prevalence estimated at 1 in 86,000

•

en:onset in first decade (range 1 to 9 years)

•

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

•

en:onset in infancy and early childhood

•

en:onset in late childhood or adulthood

•

en:onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies

•

en:onset of cardiomyopathy may occur several months after birth

•

en:onset of disease 3-8 years

•

en:onset of disease after fourth decade of life

•

en:onset of disease before 7 years of age

•

en:onset of macrocephaly in the first year of life

•

en:onset of muscle weakness around age 5 years

•

en:onset of optic atrophy in first decade

•

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

•

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

•

en:onset usually after viral-like infection

•

en:onset usually in childhood (range infancy to late childhood)

•

en:presents at 2 to 3 months of age

•

en:onset usually within first weeks of life

•

en:onset within first 6 months of life

•

en:other variants of waardenburg syndrome include waardenburg syndrome type 2 (193510), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580)

•

en:patients may present with autoimmune features or primary immunodeficiency

•

en:peak age of onset in second decade

•

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

•

en:perinatal lethal

•

en:phenotype range from typical parkinson disease (168600) to dementia with lewy bodies (127750)

•

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

•

en:plasma cholinesterase measurement

•

en:pneumocytosis carinii infection (12 to 42%)

•

en:positive family history in 12-33% patients

•

en:possible genetic heterogeneity (linkage to xp22 in some families)

•

en:prelingual onset

•

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

•

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

•

en:episodes usually last 1 to 2 days

•

en:prevalence 1/10,000-1/15,000 female births

•

en:phenotypically indistinguishable from hemophilia a (306700)

•

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

•

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

•

en:phenotypic overlap with parkinson disease

•

en:pigmentary abnormalities apparent at birth or in infancy

•

en:plantar contractures become apparent with onset of ambulation

•

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

•

en:polyhydramnios

•

en:preaxial involvement in approximately 60% of patients

•

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

•

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

•

en:present in infancy in all affected individuals

•

en:presumed autosomal dominant with incomplete penetrance

•

en:prevalence in norway is 1 in 80,000

•

en:patients with later onset have better prognosis

•

en:prevalence in taiwan is 1 in 132,000

•

en:progresses to involve upper limbs

•

en:progression to profound hearing loss affecting all frequencies

•

en:progressive, with full manifestations at puberty

•

en:pulsatile headache lasts hours to days

•

en:reported cases all sporadic

•

en:responsive to oral mannose therapy

•

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

•

en:rickets and premature primary tooth loss occur in childhood

•

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

•

en:see also antenatal bartter syndrome type 1 (601678), bartter syndrome type 2 (241200), bartter syndrome 3 (607364), and bartter syndrome 4b digenic (613090)

•

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

•

en:see also distal hmn2a (158590)

•

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

•

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

•

en:patients with hemophilia b(m) variants (see, e.g., 300746.0030) also have prolonged pt

•

en:see also pseudopseudohypoparathyroidism (612463)

•

en:onset of mental impairment in early childhood

•

en:onset in feet and legs (peroneal distribution)

•

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

•

en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh)

•

en:onset in the perinatal period

•

en:onset in third or fourth decades

•

en:onset in utero or early infancy

•

en:onset occurs earlier in males than females

•

en:onset of bleeding symptoms in childhood or young adulthood

•

en:onset of calf hypotrophy may occur earlier

•

en:onset of diabetes in teenage years

•

en:onset of hearing loss in first or second decade

•

en:onset of joint pain in childhood

•

en:onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade

•

en:onset of optic atrophy in infancy or early childhood

•

en:patients retain ambulation even after long disease course

•

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

•

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

•

en:onset of seizures in first months of life

•

en:onset usually in first decade

•

en:onset within first year of life

•

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

•

en:pain most commonly affects the trunk, extremities, pelvic region, buttocks

•

en:pathogenic alleles contain 71 to 1,300 repeats

•

en:patients are often asymptomatic

•

en:patients can be divided into 2 groups based on whether typical hand anomalies are present

•

en:patients develop aortic dissection with little or no aortic enlargement

•

en:patients have severe anemia requiring regular transfusions for normal activity

•

en:patients look as if they have protein deficiency or malnutrition

•

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

•

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

•

en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300)

•

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

•

en:usually sporadic, few cases described with autosomal dominant inheritance

•

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

•

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

•

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

•

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

•

en:two unrelated patients with epileptic encephalopathy have been reported

•

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

•

en:type i has most severe manifestations by age 4-5 years

•

en:typically sporadic occurrence

•

en:typical onset in adulthood

•

en:u.s. frequency higher in blacks than whites

•

en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype

•

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

•

en:usually clinically asymptomatic

•

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

•

en:two sibs and an unrelated fetus have been reported (last curated february 2016)

•

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

•

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

•

en:variable age at onset of arrhythmia (range 12 to 59 years)

•

en:variable age of onset (20 to 35 years old)

•

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

•

en:variable age of onset (first to third decades)

•

en:variable age of onset of renal manifestations

•

en:variable disease severity

•

en:variable features present

•

en:variable frequency (daily to monthly)

•

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

•

en:variable severity, intrafamilial

•

en:variable severity (in patients with hsan2d)

•

en:zinc deficiency in breastfed offspring resolves after weaning

•

en:two unrelated boys reported with relatively mild phenotype (last curated may 2012)

•

en:two families with different phenotypes have been reported (as of september 2010)

•

en:seizures are refractory to treatment

•

en:spontaneous tumor regression may occur

•

en:short umbilical cord

•

en:single umbilical artery

•

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

•

en:some features are variable, even within families

•

en:some heterozygous carriers exhibit accelerated age-related hearing loss

•

en:some laboratory abnormalities may fluctuate or improve with time

•

en:some patients have asymptomatic hypocalcemia

•

en:some patients have lethal fetal akinesia with death in utero

•

en:some patients have no manifestations

•

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

•

en:some patients show infantile onset

•

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

•

en:some response to l-dopa therapy

•

en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss

•

en:two complementation groups - pcca (secondary to defects in the alpha chain of pcc, 232000) and pccbc (secondary to defects in the beta subunit of pcc, 232050)

•

en:sudden death due to cardiomyopathy

•

en:sudden infantile death may occur

•

en:survival to 10 years

•

en:symptoms benefit from sleep

•

en:symptoms progress with worsening myopathy

•

en:symptoms remain focal

•

en:symptom onset at birth or infancy arnold-chiari type ii is uniquely associated with myelomeninogocele (182940)

•

en:teeth may undergo post-eruptive changes

•

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

•

en:three affected sibs have been reported

•

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

•

en:three families of ashkenazi jewish descent have been reported (last curated march 2016)

•

en:three types of cystinosis are recognized

•

en:tremor is aggravated by emotional stress

•

en:onset in early to late childhood

•

en:onset in childhood or as young adult

•

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

•

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

•

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

•

en:high frequency in equatorial africa

•

en:high frequency in northeastern brazil

•

en:high frequency in the french-canadian population

•

en:high incidence in sweden and finland

•

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

•

en:homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination

•

en:homo sapiens do not have a functional l-gulonolactone oxidase gene

•

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

•

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

•

en:hypertension is presenting sign

•

en:incidence - 1/16,000 live births

•

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

•

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

•

en:heterozygous females have milder thyroid phenotype and no neurologic abnormalities

•

en:incomplete, but high, penetrance

•

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

•

en:incomplete penetrance of the cardiac phenotype

•

en:increased bleeding after surgery

•

en:increased frequency among individuals of ashkenazi jewish descent

•

en:increased frequency in ashkenazi jewish population and in finland

•

en:increased recurrence risk with parental translocation

•

en:increased tendency to chromosomal nondisjunction

•

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

•

en:infantile form accounts for 90% of cases

•

en:infants are stillborn or die before age 1

•

en:intrafamilial phenotypic variation may occur

•

en:leakage of fluid ('gusher') if the stapes is disturbed

•

en:lesions are present at birth or become apparent in infancy

•

en:highly variable frequency and severity of attacks

•

en:heterozygotes exhibit blue sclerae and soft velvety skin

•

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

•

en:four families have been reported (last curated june 2011)

•

en:evidence of systemic iron overload seen in 1 family

•

en:excessive skin picking of sores

•

en:family b had a milder phenotype

•

en:fatal without hematopoietic stem cell transplantation

•

en:favorable response to 3,4-diaminopyridine

•

en:favorable response to antibodies against tnf-alpha (tnfa, 191160)

•

en:favorable response to high-dose steroids

•

en:feeding difficulties, including aspiration, ameliorate with age

•

en:feet are unaffected

•

en:female predominance (4:1)

•

en:first described in gypsy group from bulgaria

•

en:five clinical variants of msud unassociated with genotype

•

en:four clinical forms of krabbe disease

•

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

•

en:hepatic failure develops in first months of life

•

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

•

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

•

en:fractures occur in first few months, then decrease in frequency and then occur with ambulation

•

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

•

en:frequent new mutations (~86%) and/or gonadal mosaicism in tsc1

•

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

•

en:genetic heterogeneity, see evr1 (133780)

•

en:genetic heterogeneity (see 166600)

•

en:genetic heterogeneity (see bscl1, 608594)

•

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

•

en:genetic heterogeneity (see hhf1 256450)

•

en:good response to steroid treatment

•

en:good response to vitamin d treatment

•

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

•

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

•

en:male infertility

•

en:onset in adolescence to early adulthood

•

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

•

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

•

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

•

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

•

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

•

en:one family of irish traveller descent described (last curated september 2013)

•

en:one family reported (last curated july 2008)

•

en:one family with 4 affected sibs has been reported (as of april 2012)

•

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

•

en:one family with confirmed cecr1 mutation has been reported (last curated august 2014)

•

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

•

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

•

en:one large french family and 1 patient with sporadic occurrence have been reported (last curated january 2013)

•

en:one patient described as having bbs, but with no clinical details has been reported (last curated october 2014)

•

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

•

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

•

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

•

en:one patient reported (last curated november 2013)

•

en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons

•

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

•

en:only individuals homozygous for risk or non-risk alleles were studied

•

en:only women have been reported

•

en:onset 50 to 65 years

•

en:onset age 20 to 51 years

•

en:onset at 4 to 10 years

•

en:onset at or soon after birth

•

en:onset birth to early childhood

•

en:onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family

•

en:onset day of life 1-10 in infants fed lactose-containing milk

•

en:onset in adolescence or young adulthood

•

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

•

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

•

en:male to female ratio 21:8

•

en:most common cancer in men aged 15-40 years

•

en:many studies have reported that the phenotype of tuberous sclerosis-2 (tsc2) is more severe than that of tuberous sclerosis-1 (e.g., lower iq, more seizures, more macules, cust-like cortical tubers)

•

en:may be due to imprinting defect

•

en:may be present in asymptomatic adults

•

en:may occur cormorbidly with poland syndrome (173800)

•

•

en:mean age at onset 12.5 years (range 2 to 15 years)

•

en:mean age of onset 50 to 52 years

•

en:median age at onset 23 years

•

en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys

•

en:median age of diagnosis is 28 years

•

en:median survival 5.7 years

•

en:mental retardation likely secondary to neonatal hypoxia

•

en:mild facial dysmorphism is associated with duplication of the flna gene

•

en:most cases are autosomal dominant, recessive inheritance has rarely been reported

•

en:most patients are clinically asymptomatic

•

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

•

en:most patients are severely affected

•

en:most patients die in first years of life

•

en:most patients have pure spastic paraplegia, some have complicated spastic paraplegia

•

en:myoclonus occurs at rest and with action

•

en:neonatal onset

•

en:neurologic features are variable and not progressive

•

en:night blindness from early childhood

•

en:nonprogressive

•

en:nonreflex epilepsy may occur later in 16 to 38% of patients

•

en:normal alleles contain 6 to 28 repeats

•

en:normal development between episodes

•

en:nphp shows autosomal recessive inheritance

•

en:often unilateral involvement

•

en:one 3-generation italian family has been described (last curated august 2015)

•

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

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6946411 • caches: c1=6 c2=1002 c3=1

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