Le Diko - en:incidence of 1 in 50,000 to 1 in 100,000

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Le Diko - en:incidence of 1 in 50,000 to 1 in 100,000

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

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:wide phenotypic variation

•

en:mean age at onset 28 years

•

en:successful treatment with oral isotretinoin

•

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

•

en:sleepwalking triggered by alcohol, sleep deprivation, stress

•

en:see 218400 for an autosomal recessive form caused by mutation in gja1 (121014.0021)

•

en:prenatal or perinatal lethality in hemizygous males

•

en:prenatal history of maternal diabetes in 35% of cases

•

en:onset of acanthosis nigricans in childhood or by puberty

•

en:one report of brother and sister from nonconsanguineous parents

•

en:one patient reported with col3a1 mutation (120180.0020)

•

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

•

en:often lethal in infancy

•

en:hemolysis may be exercise-induced

•

en:associated with myoclonic epilepsy

•

en:generalized fatigue

•

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

•

en:favorable response to corticosteroid treatment (1 family)

•

en:episode, syncopal

•

en:dystonia is usually focal or segmental

•

en:carrier females may develop intrahepatic cholestasis of pregnancy (icp, 147480)

•

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

•

en:allelic to giant platelet syndrome (231200) and bernard-soulier syndrome, benign, autosomal dominant (153670)

•

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

•

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

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en:service comment 10:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:very few patients reported

•

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

•

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

•

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

•

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

•

en:venous malformations previously referred to as angiomas or hemangiomas

•

en:incomplete penetrance

•

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

•

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

•

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

•

en:symptomatic if > 200 repeats

•

en:spontaneous resolution of seizures by 12 months of age

•

en:see also x-linked edmd (310300)

•

en:see also familial cold autoinflammatory syndrome (120100), an allelic disorder with overlapping features

•

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

•

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

•

en:prevalence of 2-7% in english-speaking preschool children

•

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

•

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

•

en:normal development between episodes

•

en:onset usually in childhood after bcg vaccination

•

en:increased frequency among individuals of ashkenazi jewish descent

•

en:liver enzymes decrease with age

•

en:mortality approximately 20% in first 2 years

•

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

•

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

•

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

•

en:onset after third decade

•

en:onset at day 1 of life has been reported

•

en:onset of diabetes at less than 25 years of age

•

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

•

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

•

en:prevalence of 7 in 100,000 live births

•

en:prevalent among patients of asian descent, particularly japanese

•

en:relatives with multiple small congenital pigmented nevi

•

en:age of onset 5 to 40 years

•

en:survival to 5-15 years of age

•

en:some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure

•

en:sudden death due to cardiac arrhythmia may occur

•

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

•

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

•

en:one family reported (last curated january 2014)

•

en:onset first to seventh decade with 30 to 40 year mode

•

en:death may occur in early infancy

•

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

•

en:no abdominal symptoms or neurologic symptoms in harderoporphyria

•

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

•

en:founder effect in irish traveler population

•

en:fatal in first few months of life in most cases

•

en:diabetes diagnosed in second or third decade of life

•

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

•

en:carrier females may have mild intellectual disability

•

en:also called 'heterozygous osmed' and 'autosomal dominant osmed'

•

en:allelic to ellis-van creveld syndrome (225500)

•

en:allelic disorder to type iv glycogen storage disease (232500)

•

en:age of onset 30 to 60 years

•

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

•

en:allelic disorder to androgen insensitivity syndrome (ais, 300068)

•

en:incidence of 1 in 300,000

•

en:allelic to hyperimmunoglobulinemia d syndrome (hids, 260920)

•

en:nails may be intermittently involved

•

en:two subtypes noninflammatory type a and inflammatory type b

•

en:two subtypes - seminoma and nonseminoma

•

en:treatment with betaine, especially for pyridoxine nonresponders

•

en:some features are variable, even within families

•

en:precipitated by mechanical compression or pressure on nerve

•

en:pavm more frequent in hht1 than hht2

•

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

•

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

•

en:onset of skin manifestations from birth to puberty

•

en:onset of acanthosis nigricans correlates with onset of diabetes

•

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

•

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

•

en:autosomal dominant with complete penetrance

•

en:most severe type of von willebrand disease

•

en:four patients from 3 families have been reported (last curated january 2015)

•

en:characteristic facial features become more apparent with age

•

en:childhood onset has been reported

•

en:clinical presentation varies

•

en:contiguous gene deletion syndrome (in most patients)

•

en:death in childhood is frequent due to respiratory failure

•

en:genetic heterogeneity (see mcc2 deficiency 210210)

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en:good response to steroid treatment

•

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

•

en:increased prevalence in the french-canadian population

•

en:lower limb involvement precedes upper limb involvement

•

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

•

en:marked intrafamilial and interfamilial variability

•

en:responsive to vitamin b12 therapy

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

•

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

•

en:pigmentation not always butterfly-shaped

•

en:rare survival to teens

•

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

•

en:risk haplotype found in dutch families

•

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

•

en:some patients may have isolated myokymia

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

•

en:symptoms may be exacerbated by pregnancy or trauma

•

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

•

en:onset of malignancy can occur throughout life

•

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

•

en:good response to fibrinolytic inhibitors

•

en:onset in adolescence

•

en:onset between second to sixth decades of life

•

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

•

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

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en:increased frequency among individuals of east asian descent

•

en:incidence of 1 in 250,000 births

•

en:highly variable severity

•

en:genetic heterogeneity (see lgmd1a 159000 for overview)

•

en:carrier males are unaffected except for psychiatric/behavioral abnormalities

•

en:age of onset 6-12 years

•

en:affected individuals are negative for dermatographism

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en:acral hemorrhagic variant

•

en:accounts for approximately 5% of the epilepsies

•

en:visual acuity better than anticipated from ophthalmoscopic appearance

•

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

•

en:accounts for 70% of all usher syndrome patients

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en:ataxia is nonprogressive

•

en:2-3% due to imprinting defects

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en:neuropsychiatric manifestations are variable

•

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

•

en:variable response to acetylcholinesterase inhibitors

•

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

•

en:some patients do not have thin corpus callosum

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en:severity of skin symptoms may vary within families

•

en:see also antley-bixler syndrome (abs) with normal steroidogenesis (207410)

•

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:risk of sudden death in childhood due to cardiac arrest

•

en:phenotypic variability within families and among patients carrying the same mutation appears to be due to the oligogenic nature of the disorder, with some patients having mutations in more than 1 neuroendocrine-related gene

•

en:patients are severely disabled as adults

•

en:onset of joint pain in childhood

•

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

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

•

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

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

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en:neonatal onset

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en:de novo mutation in heterozygotes

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en:motor impairment more significant than sensory impairment

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en:attacks tend to decrease with age

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en:carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome

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

•

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

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en:benign trait

•

en:estimated frequence 1/3000 to 1/5000

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en:more severe in males than in females

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en:females tend to have earlier onset

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

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en:many features are present only in an untreated patient

•

en:momo is an acronym - macrosomia, obesity, macrocrania, ocular abnormalities

•

en:febrile seizures remit by age 5 or 6

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

•

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

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en:one patient reported (last curated november 2012)

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

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en:onset mid to late adulthood

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en:usual onset under age 30 years

•

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

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

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en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:frequency of infections decreases after 3 years of age

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en:green color resolves if cholestasis is treated

•

en:allelic disorder to paramyotonia congenita (168300)

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en:exacerbation or regression during viral infection

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

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en:classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia

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

•

en:both demyelinating and axonal features

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en:based on report of 3 unrelated children (last curated january 2016)

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en:allelic to multiple epiphyseal dysplasia, type 5 (607078) and hand osteoarthritis (607850)

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en:allelic disorder to dominant epidermolysis bullosa (ddeb, 131750)

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en:14% of patients survive with polyhydramnios

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en:service comment 62:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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

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en:adult onset (range 15 to 53 years)

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en:adult is an acronym for acro-dermato-ungual-lacrimal-tooth

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

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en:age of onset/diagnosis 12-35 years

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

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

•

en:tremor is aggravated by emotional stress

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en:symptoms remain focal

•

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:regression in infancy (in some patients)

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en:prevalence estimated at 1 in 50,000

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en:poor response to l-dopa

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

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en:onset of peripheral neuropathy in the first decade

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

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en:onset after age 40 years

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en:patients often nonambulatory by the mid-twenties

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

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en:favorable response to l-dopa

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en:no phenotypic manifestations

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en:broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients

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en:clubfoot is bilateral in most patients

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en:congenital onset

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en:urine turns dark on standing and alkalinization

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

•

en:four patients have been reported (as of december 2009)

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en:itch, pain, and body malodor often

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en:mecp2 mutations are those found in females with rett syndrome (312750)

•

en:milder phenotype associated with aberrant function of a single domain of the zeb2 protein rather than complete haploinsufficiency of zeb2

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en:no phenotype in heterozygotes

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

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

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en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770)

•

en:allelic to hand osteoarthritis (607850)

•

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

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

•

en:death due to respiratory failure or infection

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en:diagnosis in seventh decade of life

•

en:some patients show normal development until onset of disorder

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en:distinct disorder from marinesco-sjogren syndrome (mss, 248800)

•

en:four clinical forms of krabbe disease

•

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

•

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

•

en:adult onset (wide range of age)

•

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

•

en:patients are often misdiagnosed with spherocytosis

•

en:onset of symptoms in early childhood

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en:one patient with severe congenital onset has been reported

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en:one palestinian family and one lebanese family have been described (last curated march 2016)

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en:one family of italian-american descent has been described

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en:nonpenetrance has been observed

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

•

en:earlier onset associated with faster progression and shorter life span

•

en:characterized by calf weakness at onset

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

•

en:age at onset ranges from 16 years to 65 years

•

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

•

en:hyperpigmented patches increased in size and number with age

•

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

•

en:dysmorphic features may be subtle

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

•

en:prevalence of 1 in 1,429 in tanzania

•

en:variable frequency (daily to monthly)

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

•

en:unusual cabbage-like odor

•

en:two unrelated patients with epileptic encephalopathy have been reported

•

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

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

•

en:symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see 614972)

•

en:survival to 10 years

•

en:spontaneous bleeding is rare

•

en:some patients may present with myopathic features

•

en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation)

•

en:see 177850 for description of heterozygous phenotype

•

en:prevalence of 1 in 7,900 in cameroon

•

en:stable or slowly progressive course

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en:plantar contractures become apparent with onset of ambulation

•

en:occurs much more commonly in women

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en:most mutations occur de novo

•

en:most patients require liver transplant in childhood

•

en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200)

•

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

•

en:not all patients have all features

•

en:no opportunistic infections

•

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

•

en:onset of symptoms after age 5

•

en:onset of symptoms in adolescence or early adulthood

•

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

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en:pancreatic endocrine abnormalities reported in 1 family only

•

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

•

en:mutations are frequently maternally inherited

•

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

•

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

•

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

•

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

•

en:onset of lymphedema around puberty

•

en:onset usually in adolescence

•

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

•

en:pathogenic alleles contain 75-11,000 repeats

•

en:prevalence approximately 1 in 4,000 males

•

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

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en:responsive to thiazide diuretics

•

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

•

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

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en:subtype 3a comprises myoclonus and dementia

•

en:mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years)

•

en:most patients are stillborn or die in immediate neonatal period

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

•

en:males carry mutations in the somatic mosaic state

•

en:death in childhood often results from respiratory insufficiency

•

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

•

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

•

en:allelic disorders with overlapping phenotypes include cmt1a (118220), hereditary neuropathy with liability to pressure palsies (hnpp, 162500), and dejerine-sottas syndrome (dss, 145900)

•

en:allelic disorder is brugada syndrome (601144)

•

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

•

en:cyp2d6 represents about 1% of total liver cytochrome p450 content

•

en:death usually occurs by age 2 years

•

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

•

en:environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol

•

en:estimated incidence of 1 in 17,000

•

en:favorable response to anticholinesterase medication

•

en:favorable response to flunarizine

•

en:hair is soft, short, and sparse initially, but develops into woolly hair in early childhood

•

en:incidence of 1 in 25,000 livebirths

•

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

•

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

•

en:onset usually in infancy or childhood

•

en:variable age at onset (8 to 62 years)

•

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

•

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

•

en:onset in first 8 weeks of life

•

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

•

en:onset usually in adulthood

•

en:onset usually in childhood (infancy to teens)

•

en:patients may have either dementia or motor neuron disease or both

•

en:prevalent among individuals of east asian descent

•

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

•

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

•

en:seizures may remit later in childhood

•

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

•

en:sparing of some nails in some individuals

•

en:symptoms often improve gradually with age

•

en:variable onset of seizures from neonatal to first year of life

•

en:wasting of hands often occurs first

•

en:only apparent in patients taking eculizumab

•

en:ultrasound detection in second trimester of pregnancy

•

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

•

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

•

en:neonatal severe hyperparathyroidism in homozygotes (239200)

•

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

•

en:affects 1 to 3% of the population

•

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

•

en:cataracts develop by second decade of life

•

en:death usually in first year of life

•

en:death usually in teenage years

•

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

•

en:early age of onset (approximately 45 years)

•

en:mutations have been identified in spanish families

•

en:feeding difficulties, including aspiration, ameliorate with age

•

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

•

en:genetic heterogeneity (see jbts1 213300, jbts2 608091, jbts3 608629)

•

en:klippel-feil anomaly may be a part of other syndromes, including murcs (601076) and sprengel deformity (184400)

•

en:males are more commonly affected than females

•

•

en:onset of macrocephaly in the first year of life

•

en:onset of seizures in first months of life (usually 4 to 7 months)

•

en:overlap with tourette syndrome (137580)

•

en:prenatal diagnosis available

•

en:progressive deafness

•

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

•

en:small placenta

•

en:see also pgl1 (168000)

•

en:seizures are responsive to pyridoxine treatment

•

en:seizures recur in 33% of patients

•

en:telangiectases persist in adulthood

•

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

•

en:tremor is aggravated by low glucose or light

•

en:multiple spontaneous abortions in obligate carriers

•

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

•

en:associated with hemodialysis

•

en:most severe form of gaucher disease

•

en:approximately one-third of patients become seizure-free with age

•

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

•

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

•

en:78% due to chromosome 14 maternal uniparental disomy

•

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

•

en:allelic to adult syndrome (103285), split hand/foot malformation 4 (605289), rapp-hodgkin syndrome (129400), hay-wells syndrome (106260), and limb-mammary syndrome (603543)

•

en:ambulation usually not achieved

•

en:based on 2 patients with p4hb mutations (last curated april 2015)

•

en:mean age at onset 32 years

•

en:brain mri abnormalities show improvement with time

•

en:colorectal cancer develops by fourth decade in untreated patients

•

en:diagnosis rarely made before the fourth decade of life

•

en:earlier onset is associated with a more severe disorder

•

en:hearing loss occurs later if at all

•

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

•

en:two main phenotypes, severe and mild

•

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

•

en:service comment 15:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:normal alleles contain 6 to 28 repeats

•

en:often presents with cranial or cervical involvement

•

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

•

en:one family with a confirmed dcaf8 mutation has been reported (last curated june, 2014)

•

en:onset between ages 1 to 3 years

•

en:periventricular heterotopia (300049) is an allelic disorder

•

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

•

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

•

en:rare adult onset

•

en:recurrence is possible

•

en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:some patients may lose independent ambulation

•

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

•

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

•

en:neurologic features are variable and not progressive

•

en:progressive renal disorder

•

en:most patients have contiguous gene deletion syndrome involving xp22

•

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

•

en:most common inherited giant platelet disorder

•

en:'second wind' phenomenon

•

en:adult onset (37 to 57 years)

•

en:allelic disorder to dilated cardiomyopathy 1n (cmd1n, 607487)

•

en:clinical features may vary

•

en:death in infancy without bone marrow transplantation

•

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

•

en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build

•

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

•

en:highly variable severity of muscle weakness

•

en:increased male-to-female ratio (3-4 to 1)

•

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

•

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

•

en:majority of cases from middle eastern countries

•

en:onset between 2 and 4 years of age

•

en:mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age

•

en:myoclonus is presenting symptom

•

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

•

en:present at birth

•

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

•

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

•

en:see also the x-linked form (300291)

•

en:incidence of 1 in 1.5 million births

•

en:increased prevalence among smokers

•

en:allelic disorder to hyperkalemic periodic paralysis (hypp, 608390)

•

en:incidence 8/1,000 newborns

•

en:exacerbated by stress

•

en:capillary malformation are apparent at birth

•

en:both homozygous and heterozygous mutations in lrsam1 have been reported

•

en:allelic to tyrosinemia, type iii (276720)

•

en:allelic to proximal symphalangism (185800), multiple synostoses syndrome (186500), and tarsal-carpal coalition syndrome (186570)

•

en:allelic to hawkinsinuria (140350)

•

en:adult onset of neurologic symptoms (range 30 to 46 years)

•

en:adult onset (mean age 37 years)

•

en:symptom onset ranges from infancy to adulthood

•

en:seizures tend to become more focal with age

•

en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700)

•

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

•

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

•

en:tremors develop after seizures

•

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

•

en:see also autosomal recessive form (255700), which is more common and more severe

•

en:psychomotor delay may already be apparent at onset of seizures

•

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

•

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

•

en:onset between ages 5 and 15 years

•

en:one third of patients represent new mutations

•

en:one family reported (last curated may 2013)

•

en:one family and 1 unrelated patient have been reported (last curated december 2015)

•

en:thyroid carcinoma

•

en:no history of familial hypercholesterolemia

•

en:hearing loss occurs in late childhood

•

en:good response to clonazepam

•

en:female predominance (4:1)

•

en:death within first year of life in 25%

•

en:considered a benign disorder

•

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

•

en:allelic to brachydactyly, type a2 (112600)

•

en:allelic disorder to autosomal dominant optic atrophy and cataract (165300)

•

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

•

en:virtually all patients are female

•

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

•

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

•

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

•

en:two unrelated men have been reported (last curated march 2016)

•

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

•

en:toe-walking gait

•

en:see also autosomal recessive robinow syndrome (268310)

•

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

•

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

•

en:treatment with levodopa is not effective

•

en:usually fatal in infancy

•

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

•

en:typical attacks last from seconds to minutes, but longer occurrences have been reported

•

en:variable age at onset of symptoms (from childhood to the sixth decade of life)

•

en:usually occurs in young adults

•

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

•

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

•

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

•

en:variable age at onset (earliest reported 7 years)

•

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

•

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

•

en:variable clinical presentation ranging from acute onset to normal adult

•

en:variable clinical severity

•

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

•

en:variable response to levodopa treatment

•

en:variable severity, ranging from 'typical' to 'severe' disease

•

en:variable severity of phenotype and other features may be present

•

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

•

en:worldwide prevalence of 1/100,000

•

en:three unrelated patients have been reported (last curated february 2016)

•

en:spasticity is slowly progressive

•

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

•

en:some female carriers are more mildly affected

•

en:see also facial hemihypertrophy (133900)

•

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

•

en:see also pseudohypoparathyroidism type ia (103580)

•

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

•

en:seizures may improve with age

•

en:seizure onset in first months or years of life

•

en:short limbs become more apparent during childhood

•

en:short survival (less than 10 years after onset)

•

en:similar clinical phenotype to edsiii (130020)

•

en:six patients reported (last curated march 2015)

•

en:skin changes have onset in childhood

•

en:skin lesions worsen with heat or sun exposure

•

en:slowly progressive or nonprogressive course

•

en:some patients become wheelchair-bound in second decade

•

en:symptoms worsen with fatigue and exercise

•

en:some patients do not develop stroke

•

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

•

en:some patients have only plantar surface involvement

•

en:some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic

•

en:some patients may need surgery or renal transplant

•

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

•

en:some patients show rapid disease progression

•

en:some patients survive infancy

•

en:some patients with advanced loss of vision have normal eog

•

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

•

en:symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger

•

en:symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes

•

en:symptoms relieved by serotonin antagonist (in some patients)

•

en:miscellaneous

•

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

•

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

•

en:average age at death is 37 years

•

en:allelic to myosin storage myopathy (608358)

•

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

•

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

•

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

•

en:all patients have severe hearing loss 10 to 15 years after onset

•

en:see also autosomal dominant hypophosphatemic rickets (193100)

•

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

•

en:associated with iron deficiency anemia

•

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

•

en:atypical hemolytic-uremic syndrome shows onset in first 12 months

•

en:autonomic symptoms occur with headaches

•

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

•

en:autosomal recessive inheritance can occur

•

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

•

en:allelic disorder to van der woude syndrome (vws, 119300) and popliteal pterygium syndrome (pps, 119500)

•

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

•

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

•

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

•

en:based on report of one 5-generation family (last curated december 2015)

•

en:bimodal age of onset

•

en:birth incidence approximately 5.1 per million live births

•

en:bleeding is usually delayed-onset after challenge

•

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

•

en:can be treated by bone marrow transplantation

•

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

•

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

•

en:carrier females may have mild features

•

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

•

en:caused by heterozygous germline mutation and second-hit somatic mutation

•

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

•

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

•

en:health insurance plan benefits comment:finding:point in time:^patient:narrative

•

en:46,xx carriers are unaffected

•

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

•

en:reference lab test results:finding:time reported elsewhere:reference lab test:narrative

•

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

•

en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 27:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 33:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 49:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 79:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:(3) adult nonnephropathic (219750)

•

en:13% of cases secondary to familial translocation (often maternally derived)

•

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

•

en:40% patients have associated abnormalities

•

en:608292) are at increased risk of developing monoclonal gammopathy of undetermined significance (mgus) or multiple myeloma

•

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

•

en:abnormal transferrin pattern tends to improve with age

•

en:about 25% of cases due to new mutations

•

en:absence seizures usually remit by puberty

•

en:adams-stokes syndrome

•

en:adult onset (range 45 to 70 years)

•

en:adult onset rarely reported

•

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

•

en:affected males are somatic mosaic for mutations

•

en:affects up to 10% of the population

•

en:age at onset 15 to 25 years

•

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

•

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

•

en:alcohol may alleviate symptoms

•

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

•

en:see also autosomal dominant peoa1 (157640)

•

en:onset of ataxia in the fifties

•

en:see 607731 for an autosomal recessive form

•

en:most have resolution of symptoms between 6 and 12 months

•

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

•

en:mean age of onset in third decade

•

en:median age at diagnosis 7 years

•

en:median age of diagnosis - 15 years

•

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

•

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

•

en:more common in males

•

en:most become wheelchair-bound late in life

•

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

•

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

•

en:most common inherited bleeding disorder

•

en:most common muscle disease of older persons

•

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

•

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

•

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

•

en:most patients have de novo mutations

•

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

•

en:movements worsened by anxiety

•

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

•

en:neurologic dysfunction is infrequent and associated with delayed diagnosis

•

en:neurologic symptoms may occur after trauma

•

en:neuropathy becomes apparent in childhood

•

en:new skin lesions stop appearing before adolescence

•

en:ninety percent of cases are female

•

en:normal alleles contain 15 to 50 repeats

•

en:normal alleles contain up to 30 repeats

•

en:normal in neonatal period

•

en:no preceding skin inflammatory stage

•

en:mean age at onset 48 years (range 38 to 64)

•

en:may respond to cholinesterase inhibitors of amifampridine

•

en:odor of 'sweaty feet'

•

en:limb malformations are variable

•

en:childhood onset (average 4 to 6 years)

•

en:infantile onset

•

en:initially normal for first 6-18 months which is then followed by withdrawal and regression

•

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

•

en:intrafamilial variability

•

en:isolated finding

•

en:juvenile absence epilepsy (jae, 607631)

•

en:later onset may occur

•

en:leigh syndrome, x-linked

•

en:lesions occur mainly on the pinnae of the ears or on the face

•

en:less than 50% penetrance in some families

•

en:lethal in males

•

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

•

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

•

en:may present in infancy with episodes of severe metabolic decompensation

•

en:liver disease may be the most predominant finding

•

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

•

en:majority are isolated cases

•

en:majority are stillborn or die in early neonatal period

•

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

•

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

•

en:majority of cases sporadic

•

en:major fluid shifts may occur in severe cases

•

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

•

en:males are more severely affected

•

en:males tend to have earlier onset than females

•

en:male to female ratio 4:1

•

en:marked favorable response to l-dopa treatment

•

en:may be same entity as elejalde syndrome (256710)

•

en:no systemic manifestations

•

en:often reared as females until puberty

•

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

•

en:phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, 234200)

•

en:opportunistic infections

•

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

•

en:paternal age effect

•

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

•

en:patients develop multiple tumors

•

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

•

en:patients require achilles tendon lengthening in first or second decade of life

•

en:patients with meb may acquire ability to walk and a few words

•

en:patients with mutation in the nhlrc1 gene have slightly longer survival

•

en:patient with factor ix leyden variants (see, e.g., 300746.0001) have bleeding in childhood that improves or resolves after puberty

•

en:pedigrees compatible with autosomal dominant inheritance have been reported

•

en:penetrance is usually complete by age 65 years

•

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

•

en:premature aging syndrome

•

en:onset of thrombocytopenia in early childhood

•

en:prenatal onset or onset at birth

•

en:prevalence in slovenia is 1 in 43,000

•

en:prevalence of 1 in 28,000 african-americans

•

en:prevalence of 1 in 40,000

•

en:primary teeth affected greater than secondary teeth

•

en:protracted disease course

•

en:rarely produces clinical jaundice

•

en:reduced longevity

•

en:reported in a large hutterite family

•

en:respiratory distress may be precipitated by viral respiratory infection

•

en:responsive to high-dose biotin or biotin/thiamine treatment

•

en:reticulate acropigmentation of kitamura (hyperpigmentation found primarily in hands and feet)

•

en:risk of sudden death

•

en:onset usually in second decade

•

en:onset of symptoms usually in adulthood

•

en:often results in death in childhood

•

en:onset between 28-32 weeks of gestation

•

en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:one patient was asymptomatic and detected by neonatal screening

•

en:onset 23 to 30 years

•

en:onset 7 to 15 months of age

•

en:onset age 2 to 7 years

•

en:onset around age 2 years

•

en:onset before age 20

•

en:onset by 3 years of age

•

en:onset of skin lesions at birth

•

en:onset in adolescence or young adulthood has been reported

•

en:onset in childhood (usually before age 5 years)

•

en:onset in first months of life

•

en:onset in fourth and fifth decades

•

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

•

en:onset in infancy after weaning

•

en:onset in teens to 20's

•

en:onset in the first hours or days of life

•

en:onset of disease after fourth decade of life

•

en:onset of disease within the first year of life

•

en:onset of hearing loss in childhood

•

en:onset of proteinuria in the third to fourth decades

•

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

•

en:onset of seizures in first 6 months of life

•

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

•

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

•

en:childhood onset may occur

•

en:prevalence rates average 10-20% of the general population over age 60

•

en:patients do not exhibit skin pigmentation changes

•

en:patients may have recurrent infections due to immunosuppressive therapy

•

en:patients may show intermittent signs of improvement

•

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

•

en:patients with residual enzyme activity have childhood or adult onset

•

en:phenotype may or may not be consistent within a family.

•

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

•

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

•

en:poor response to the c5 inhibitor eculizumab

•

en:prenatal diagnosis by ultrasound

•

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

•

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

•

en:prevalence of sleep terrors about 3% in children

•

en:prodromal symptoms include nasal congestion, dry throat, severe fatigue, vertigo, and headache

•

en:partially responsive to laser treatment

•

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

•

en:reduced exercise tolerance

•

en:reduced penetrance has been reported

•

en:relatively mild cutis laxa, associated with severe vascular abnormalities

•

en:relatively slow progression

•

en:reported in individuals of amish or mennonite descent

•

en:reported in the ohio amish anabaptist community

•

en:responsive to treatment

•

en:reticulate hyperpigmentation onset birth - 2 years

•

en:risk of death due to cardiac dysfunction

•

en:see 609888 for a discussion on leprosy susceptibility

•

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

•

en:see also distal hmn2a (158590)

•

en:paternal anticipation bias

•

en:onset usually in third decade of life

•

en:see also x-linked nephrocalcinosis (310468), x-linked recessive hypophosphatemic rickets (300554), and low-molecular-weight proteinuria with nephrocalcinosis (308990)

•

en:onset in teenage or young adult years

•

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

•

en:onset birth to early childhood

•

en:onset in 1st to 3rd decade of life

•

en:onset in childhood (6-7 years)

•

en:onset in childhood (range infancy to 14 years)

•

en:onset in childhood or as young adult

•

en:onset in childhood or youth

•

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

•

en:onset in fifth or sixth decade

•

en:onset in first decade (birth to age 5 years)

•

en:onset in late childhood or early teens

•

en:onset in late teens to early forties

•

en:onset in second or third decades

•

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

•

en:onset usually in second or third decades

•

en:onset in young adulthood

•

en:onset often in late adolescence

•

en:onset of ataxia in early childhood (range 15 months to 3 years)

•

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

•

en:onset of hematologic or cns tumors in the first or second decades of life

•

en:onset of major clinical features in young adulthood

•

en:onset of muscle weakness in late adulthood

•

en:onset of osteoarthritis in teens to early adulthood

•

en:onset of symptoms in early childhood in most patients

•

en:onset of visual dysfunction in early childhood

•

en:onset of visual loss in the first decade

•

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

•

en:onset usually in infancy or early childhood (9 months to 6 years)

•

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

•

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

•

en:seizures are sensitive to hyperventilation

•

en:onset between 6 and 12 months of age

•

en:variable age at onset (range childhood to mid-sixties)

•

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

•

en:type 1 - associated with osteogenesis imperfecta (125490)

•

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

•

en:type ii is progressive and leads to shortened lifespan

•

en:type i onset at 8 to 15 months of age after normal development

•

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

•

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

•

en:usually progressive

•

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

•

en:variable age at onset, but most often in the first 2 decades

•

en:variable age at onset, early childhood to adult

•

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

•

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

•

en:variable age at onset of seizures

•

en:two sibs have been reported (last curated november 2012)

•

en:variable age of onset (range 4 to 47 years)

•

en:variable age of onset of renal manifestations

•

en:variable clinical features

•

en:variable clinical presentation

•

en:variable expressivity, some patients may be clinically asymptomatic

•

en:variable phenotype, particularly with regard to cortical malformations

•

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

•

en:variable phenotype within families

•

en:variable phenotypic features cataloged depending on development of fetus or infant

•

en:variable severity, correlates with age at onset

•

en:variable survival (some neonatal lethality)

•

en:vhl type 2a - hemangioblastoma and pheochromocytoma

•

en:walking delay

•

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

•

en:two main phenotypes, metabolic and neurologic

•

en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause

•

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:seizures remit by age 5 years

•

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

•

en:skewed x-inactivation in carriers

•

en:skin appears normal at birth, with development of generalized ichthyosis in childhood

•

en:some carrier females may manifest mild symptoms

•

en:some laboratory abnormalities may fluctuate or improve with time

•

en:some patients are clinically unaffected.

•

en:some patients experience respiratory infections in association with episodes of jaundice in childhood

•

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

•

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

•

en:some patients have no manifestations

•

en:some patients may be asymptomatic

•

en:some patients may have normal psychomotor development

•

en:some patients with heterozygous mutations may be symptomatic

•

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

•

en:some phenotypic overlap with alpers syndrome (mtdps4a, 203700)

•

en:sporadic occurrence

•

en:subset of patients have cytochrome c oxidase deficiency (see 220110)

•

en:symptoms ameliorate with age

•

en:symptoms are aggravated by febrile illness

•

en:symptoms develop immediately after birth

•

en:systemic iron overload due to ineffective erythropoiesis

•

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

•

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

•

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

•

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

•

en:treatment with vitamin d and phosphate is effective

•

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

•

en:two families described (last curated july 2013)

•

en:onset between age 30-50 years

•

en:onset at age 3-5 years

•

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

•

en:genetic heterogeneity (see pfm1, 168500)

•

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

•

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

•

en:frequent neonatal sudden death

•

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

•

en:generalized dystonia in some cases

•

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

•

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

•

en:genetic heterogeneity, see evr1 (133780)

•

en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490)

•

en:genetic heterogeneity (see 157640)

•

en:genetic heterogeneity (see 304800)

•

en:genetic heterogeneity (see bscl1, 608594)

•

en:genetic heterogeneity (see npc2, 607625)

•

en:good response to vitamin d treatment

•

en:four patients from 2 unrelated families have been reported (last curated april 2013)

•

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

•

en:hepatomegaly improves with age and disappears around puberty

•

en:heterozygotes are not affected

•

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

•

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

•

en:heterozygous females more mildly affected than hemizygous males

•

en:heterozygous mutation carriers may show mild symptoms

•

en:highly variable organ involvement and severity

•

en:high frequency in southern india (7% of all epilepsies)

•

en:high prevalence among individuals of portuguese descent

•

en:high prevalence in holguin province of cuba

•

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

•

en:incidence 7-15% in pacific island populations

•

en:four unrelated patients have been reported (last curated september 2015)

•

en:founder effect in turkish families

•

en:incidence of 1 in 100,000 births in caucasians

•

en:deletions occur de novo

•

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

•

en:clinical overlap with charcot-marie-tooth disease type 2c (606071)

•

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

•

en:complete absence of melanin synthesis

•

en:congenital reduction in visual acuity is nonprogressive

•

en:contractures most severe by midadolescence

•

en:corneal diameter decreases with decreasing axial length

•

en:deafness is presenting symptom

•

en:death between 2 years of age and young adulthood

•

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

•

en:death in infancy

•

en:death in teens secondary to cardiac failure

•

en:death usually within first weeks of life

•

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

•

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

•

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

•

en:does not result in renal failure

•

en:dysmorphic facial features may not be present

•

en:dysmorphic features are mild or variable

•

en:early childhood lethality may occur

•

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

•

en:existence as a distinct entity is not confirmed

•

en:familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, 612965)

•

en:fatal in the neonatal period (in some patients)

•

en:features occur episodically

•

en:females are more often affected

•

en:female carriers may be mildly affected

•

en:female carriers may show intermittent hematuria

•

en:female mutation carriers are less severely affected than male mutation carriers

•

en:incidence of 1 in 100,000

•

en:increased abortuses of homozygous or compound heterozygous fetuses

•

en:onset around puberty

•

en:neurologic symptoms may develop decades later

•

en:most cases occur de novo

•

en:most cases result from de novo mutations

•

en:most common episodic ataxia syndrome

•

en:most patients are asymptomatic

•

en:most patients become wheelchair-bound after 20 to 30 years

•

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

•

•

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

•

en:mulibrey is an acronym (muscle, liver, brain, and eyes)

•

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

•

en:muscle symptoms precede cardiac symptoms

•

en:muscle weakness occurs only in the presence of hyperthyroidism

•

en:mutations show partial penetrance

•

en:normal ability to tolerate heat

•

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

•

en:not all patients have renal involvement

•

en:no laterality defects

•

en:no situs inversus

•

en:often identified in newborn period

•

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

•

en:one family reported (last curated july 2008)

•

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

•

en:one patient has been reported (as of curation date may, 2013)

•

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

•

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

•

en:onset 20-55 years of age

•

en:onset 5 to 7 years

•

en:onset 8-20 years

•

en:onset age 32 to 45 years

•

en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001)

•

en:moroccan jewish and ashkenazi jewish families have been described

•

en:increased frequency in ashkenazi jewish population

•

en:limited clinical information provided for patients with mks1 mutations (last curated october 2014)

•

en:increased frequency in iraqi jews, selected arab populations, french gypsies, and natives of southern india

•

en:increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama

•

en:increased prevalence among the finnish

•

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

•

en:increased susceptibility to malignant hyperthermia

•

en:increased tendency to chromosomal nondisjunction

•

en:independent ambulation is maintained

•

en:joint replacement often necessary

•

en:late adult onset (after age 55 years)

•

en:lesions apparent at birth

•

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

•

en:levodopa-responsive

•

en:limited clinical information provided

•

en:liveborn often die within first week of life

•

en:minimal response to surfactant treatment

•

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

•

en:majority cases are sporadic

•

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

•

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

•

en:many cases due to de novo mutation

•

en:may be same disorder as autosomal recessive optic atrophy 3 (258501)

•

en:may have seasonal variance in severity

•

en:may or may not be responsive to pyridoxine (vitamin b6) treatment

•

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

•

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

•

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

•

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

•

en:median age at onset 23 years

•

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

•

en:increased prevalence in persons of ashkenazi jewish descent

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6946585 • caches: c1=6 c2=1002 c3=1

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