Le Diko - en:progressive clinical course with onset in childhood

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Le Diko - en:progressive clinical course with onset in childhood

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en:progressive clinical course with onset in childhood

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:usually affects children

•

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

•

en:a wnt3 mutation has been identified in 1 affected family

•

en:a nonspecific marker of somatic mosaicism

•

en:allelic to myosin storage myopathy (608358)

•

en:reference lab test identifier:id:xxx:reference lab test:nom

•

en:variable clinical features

•

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

•

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

•

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

•

en:some patients can hold menial jobs

•

en:patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels

•

en:onset of bleeding symptoms in childhood or young adulthood

•

en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec

•

en:onset at 2 to 15 years

•

en:no situs inversus

•

en:motor symptoms are variable

•

en:life-threatening infections

•

en:genetic heterogeneity (see mcc2 deficiency 210210)

•

en:genetic heterogeneity, see apmr1 (203650)

•

en:genetic anticipation has been observed

•

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

•

en:average age at onset 18 years (range 15 to 25 years)

•

en:age at onset ranges from neonatal to adulthood

•

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

•

en:based on description of 1 family (last curated april 2006)

•

en:possible x-linked inheritance

•

en:expression more severe in females than males, except for mosaic males

•

en:presentation in childhood includes waddling gait and knee pain/stiffness

•

en:found predominantly in the amish population

•

en:triggered by pregnancy, drugs, chemotherapy, cancer, bone marrow transplantation, infection

•

en:treatment with betaine, especially for pyridoxine nonresponders

•

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

•

en:sudden death due to cardiomyopathy

•

en:some patients require insulin for treatment

•

en:seizures tend to remit later in childhood

•

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

•

en:secondary prevention, avoid smoking, alcohol, and oxidants

•

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

•

en:regression in infancy (in some patients)

•

en:two unrelated families have been reported (as of october 2010)

•

en:onset in first weeks or months of life

•

en:most patients die of renal failure in early adulthood

•

en:onset between age 4 to 7 months

•

en:glucocorticoid deficiency occurs in mid-childhood

•

en:highly penetrant, but low morbidity

•

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

•

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

•

en:one family reported (as of november 2011)

•

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

•

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

•

en:onset before age 2 years

•

en:most common inherited bleeding disorder

•

en:see also oca1a (203100)

•

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:progressive deafness

•

en:poor response to acetylcholinesterase inhibitors or cholinergic agents

•

en:patients need support with walking or are wheelchair-bound

•

en:part of 'dent disease complex' (see 300009)

•

en:some carrier females may manifest mild symptoms

•

en:otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder

•

en:one patient died at age 7 years

•

en:one family has been reported

•

en:female carriers may be less severely affected

•

en:improvement of epimetaphyseal changes with age

•

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

•

en:good seizure control with medication

•

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

•

en:female carriers may have mild mental retardation

•

en:features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see 103580)

•

en:distinct disorder from myasthenia gravis (mg, 254200)

•

en:asymptomatic carriers of a pericentric chromosome 8 inversion, inv(8), have a 6.2% risk of having an affected child with an unbalanced recombinant chromosome 8, rec(8).

•

en:age of onset/diagnosis 12-35 years

•

en:age at diagnosis 9 +/- 6 years

•

en:1.02 kb genomic deletion in 85% of batten disease alleles worldwide

•

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

•

en:some patients present with spasticity, whereas others present with cerebellar ataxia

•

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

•

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

•

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

•

en:two unrelated patients with epileptic encephalopathy have been reported

•

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

•

en:some patients may show mild decrease in head circumference over time

•

en:progressive disorder regarding both neurologic and renal symptoms

•

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

•

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

•

en:onset age 32 to 45 years

•

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

•

en:nphp shows autosomal recessive inheritance

•

en:may be associated with polymorphisms in some surfactant genes, including sftpa1 (178630), sftpb (178640), and sftpc (178620)

•

en:leigh syndrome, x-linked

•

en:twenty-five percent of affected babies are stillborn

•

en:early-onset associated with more severe course and early death

•

en:affects 1 to 3% of the population

•

en:death in childhood is frequent due to respiratory failure

•

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

•

en:adult onset (mean 30 years, range 5-60 years)

•

en:adult onset (mid-forties)

•

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

•

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

•

en:allelic disorder to niemann-pick disease type a (257200)

•

en:allelic to nephronophthisis 4 (606966)

•

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

•

en:associated with increased paternal age

•

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

•

en:two families reported (last curated august 2014)

•

en:there are several subtypes

•

en:survival to 20s-60s in iib

•

en:some patients have later onset of the disorder as young adults

•

en:see also later childhood-onset form (300718)

•

en:onset of malignancy can occur throughout life

•

en:onset of fractures 4-18 months of life

•

en:one patient was less severely affected

•

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

•

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

•

en:most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene (606829.0001)

•

en:high prevalence in holguin province of cuba

•

en:hearing loss occurs in late childhood

•

en:exacerbations during infection

•

en:estimated frequency of 1 in 40,000 live births

•

en:average duration of illness 8 years

•

en:apparent in newborn at birth

•

en:alopecia usually occurs around puberty

•

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

•

en:adult onset (forties)

•

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

•

en:adult onset has been rarely reported

•

en:allelic disorder to limb girdle muscular dystrophy type 1c (lgmd1c, 607801)

•

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

•

en:prevalence of sleepwalking up to 26% in childhood

•

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

•

en:type iiia has both liver and muscle involvement

•

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

•

en:two unrelated patients have been reported, but nadk2 mutation has only been confirmed in 1 patient (last curated september 2014)

•

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

•

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

•

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

•

en:some patients report seasonal variation in symptoms

•

en:some features are variable

•

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

•

en:presents with 4 types of painful episodes - (1) birth crisis, babies are born red and stiff (2) rectal crisis, triggered by defecation or emotional factors (3) ocular crisis (4) mandibular crisis, triggered by eating or yawning

•

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

•

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

•

en:more prevalent in females

•

en:more frequent in individuals of asian descent

•

en:joint laxity decreases with age

•

en:febrile illness may precipitate attacks of weakness

•

en:definite diagnosis if 3/4 criteria present (epistaxis, telangiectasia, visceral lesion, or family history)

•

en:death usually in childhood

•

en:one family reported with piezo2 mutation (last curated january 2015)

•

en:can be asymptomatic

•

en:teeth may undergo post-eruptive changes

•

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

•

en:regional, racial, and ethnic clustering has been noted

•

•

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

•

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

•

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

•

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

•

en:two unrelated families and 1 isolated patient have been reported (last curated june 2012)

•

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

•

en:midline defects

•

en:allelic to senior-loken syndrome 4 (606996)

•

en:may be extreme phenotype of generalized epilepsy with febrile seizures plus (gefs+, 604233)

•

en:liver functions return to normal after 3 to 4 months

•

en:hyperpigmented skin macules appear after age 3 years and increase in frequency with age

•

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

•

en:heterozygotes have half-normal levels of apob-containing lipoproteins

•

en:genetic heterogeneity (see antenatal bartter syndrome type 2, 241200)

•

en:female predominance (4:1)

•

en:favorable response to oral bile acid therapy

•

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

•

en:autosomal recessive cases have been reported

•

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

•

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

•

en:variable heat tolerance

•

en:adolescent or adult onset associated with neuropsychiatric symptoms

•

en:(2) juvenile or adolescent nephropathic (219900)

•

en:marked clinical heterogeneity

•

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

•

en:prevalence of 19 in 1,000,000 in sweden

•

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

•

en:onset in mid to late childhood

•

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

•

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

•

en:normal at birth

•

en:most common form of porphyria

•

en:mental retardation likely secondary to neonatal hypoxia

•

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

•

en:one patient studied at molecular level (as of july 2011)

•

en:later onset of hearing loss in some patients

•

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

•

en:isolated cases

•

en:ataxia becomes evident at the end of the first year of life

•

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

•

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

•

en:age of onset varies between 18 years and 53 years

•

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

•

en:disorder usually remains stable over time

•

en:exacerbation following stress, decreased food intake, or alcohol use

•

en:founder effect in irish traveler population

•

en:increased risk of early death

•

en:majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 (300414) mutation)

•

en:incidence 1 in 6,000 to 1 in 8,000 live births

•

en:incidence of 1/50,000 births

•

en:intrafamilial variability

•

en:majority of cases are male

•

en:no family history of

•

en:more common in females (male:female ratio 4:1)

•

en:neurologic signs onset during adolescence or young adulthood

•

en:highest incidence in men of european descent

•

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

•

en:onset of acanthosis nigricans correlates with onset of diabetes

•

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

•

en:incidence 1 in 300,000 in japan

•

en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041)

•

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

•

en:for autosomal dominant forms of axonal neuropathy, see cmt2a (118210)

•

en:features usually appear during adulthood

•

en:early onset in some patients

•

en:distribution of lesions may be generalized, palmoplantar, or acral

•

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

•

en:children rarely develop the disorder

•

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

•

en:based on one report of brother and sister

•

en:autosomal recessive inheritance has been reported in 1 family (as of april 2011)

•

en:attacks more common in women

•

en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771)

•

en:prenatal onset or onset in infancy

•

en:accounts for 1-2% of lymphomas in adults

•

en:onset usually at 2 to 6 months of age

•

en:possible increase of aneuploidy in offspring

•

en:reduced fertility

•

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

•

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

•

en:usually progressive

•

en:resembles intrauterine torch infection but without intrauterine infection

•

en:three patients from 2 families have been reported (last curated december 2014)

•

en:survival to advanced age

•

en:penetrance of disease is complete between 30 and 40 years of age

•

en:onset of progressive spastic paraplegia in childhood

•

en:onset of optic atrophy in childhood

•

en:onset of disease 3-8 years

•

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

•

en:onset in first decade (average 5 years)

•

en:ocular abnormalities may be very mild

•

en:motor impairment more significant than sensory impairment

•

en:increased frequency in finland

•

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

•

en:high recurrence rate

•

en:variable survival

•

en:genetic heterogeneity (see cmt2b2, 605589)

•

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

•

en:some patients do not have dysmorphic features

•

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

•

en:symptoms begin focally, later segmental or generalized

•

en:secondary tumors develop within the skin lesions

•

en:adult-onset in third to fourth decade

•

en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability

•

en:characteristic facial features become more apparent with age

•

en:death usually in newborn period or infancy

•

en:based on 1 reported family with oca6

•

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

•

en:reported in a large hutterite family

•

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

•

en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features

•

en:patients with medication-resistant hypertension require bilateral adrenalectomy

•

en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200)

•

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

•

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

•

en:short stepped shuffling gait

•

en:some female carriers are more mildly affected

•

en:spontaneous resolution usually after 12 months of age

•

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

•

en:onset of distal muscle weakness in adulthood (range twenties to forties), however, pes cavus or percussion-inducted contractions may be present earlier

•

en:onset of thrombocytopenia in early childhood

•

en:high early mortality rate if untreated

•

en:onset in first decade (e.g. 180380.0028)

•

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

•

en:marked heterogeneity

•

en:increased frequency in the charlevoix and saguenat-lac-st-jean regions of quebec, canada (1 in 2,117 live births, carrier rate 1 in 23)

•

en:incidence of 1 in 6,000 males

•

en:incidence of 1 in 40,000 infants worldwide

•

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

•

en:genetic heterogeneity (see cmt1b 118200)

•

en:favorable response to treatment with riboflavin

•

en:favorable response to spironolactone

•

en:death may occur in late childhood

•

en:anemia, diabetes, and deafness often show onset at different ages

•

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

•

en:allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, 106260)

•

en:wheelchair use by 10-30 years

•

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

•

en:onset 23 to 30 years

•

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

•

en:variable severity (in patients with hsan2d)

•

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

•

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

•

en:sudden death within first days of life

•

en:see speech-language disorder 1 602081 and familial developmental dysphasia 600117 for similar disorders

•

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

•

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

•

en:parietal foramina-2 (pfm2, 609597) are caused by mutations in the alx4 gene (605420)

•

en:onset within first 6 months of life

•

en:onset in mid-adulthood

•

en:onset before age 40 years

•

en:patients often nonambulatory by the mid-twenties

•

en:one family and an unrelated patient have been reported (last curated july 2014)

•

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

•

en:d-hus is usually familial

•

en:normal first month

•

en:genetic heterogeneity (see etl2, 608096)

•

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

•

en:high incidence in sweden and finland

•

en:early death from respiratory failure may occur

•

en:improvement of abnormal muscle biopsy and cox deficiency

•

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

•

en:many cases result from de novo mutations

•

en:may not be clinically manifest until middle life

•

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

•

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

•

en:not all nails are affected in some patients

•

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

•

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

•

en:median age at onset 23 years

•

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

•

en:onset within first 2 years

•

en:one-third of cases are familial

•

en:one family with 2 patients has been reported

•

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

•

en:prevalence in sardinia is 1 in 14,000

•

en:prevalence of 1 in 100,000

•

en:high occurrence of de novo mutations

•

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

•

en:see also mmaa (251100)

•

en:high frequency among french-canadians

•

en:genetic heterogeneity (see 191100)

•

en:death often occurs during metabolic/acidotic crisis

•

en:death often in early infancy

•

en:childhood onset (range birth to 12 years)

•

en:a severe infantile variant has been rarely reported

•

en:arrhythmias detected prenatally (in some patients)

•

en:allelic to waardenburg syndrome, type iia (193510)

•

en:allelic to pseudoachondroplasia (177170)

•

en:allelic to may-hegglin anomaly (155100), fechtner syndrome (153640), epstein syndrome (153650) and deafness, autosomal dominant 17 (603622)

•

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

•

en:allelic disorder to schindler disease (609241)

•

en:allelic disorder to long qt syndrome-1 (lqt1, 192500)

•

en:date of analysis:tmstp:pt:xxx:qn

•

en:prevalence of 1 in 300,000 in quebec

•

en:flunarizine treatment may be beneficial

•

en:skin lesions exacerbated by heat, exercise (sweating), and sunlight

•

en:incidence of 1 in 250,000 births

•

en:some patients require cardiac transplantation

•

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

•

en:two probands have been reported

•

en:tremor is aggravated by low glucose or light

•

en:three patients (2 related) reported (last curated march 2013)

•

en:reduced exercise tolerance

•

en:pneumocytosis carinii infection (12 to 42%)

•

en:onset within the first decade of life

•

en:onset in infancy (first year of life)

•

en:onset between 5 and 20 years

•

en:normal in neonatal period

•

en:neurologic features occur in adulthood

•

en:majority of wws patients die within the first year of life

•

en:onset of lymphedema before puberty

•

en:incidence - 1/16,000 live births

•

en:insulin dependent diabetes mellitus:acnc:pt:^patient:ord

•

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

•

en:icelandic families

•

en:15% cases are familial

•

en:affected females are infertile

•

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

•

en:all cases have been sporadic

•

en:apparent at birth

•

en:atypical affected males, 'cardiac variants' 301500.0005 exist

•

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

•

en:autosomal recessive inheritance has been suggested

•

en:gradual progression

•

en:onset in utero or in infancy

•

en:onset in third or fourth decades

•

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

•

en:onset in teens to 20's

•

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

•

en:onset in childhood or second decade

•

en:onset in late twenties to thirties

•

en:onset in late teens to twenties

•

en:onset in late adulthood (44 to 73 years)

•

en:onset in feet and legs (peroneal distribution)

•

en:onset in early adulthood (average 26 years)

•

en:onset in childhood or adolescence in most patients

•

en:onset of lymphedema around puberty

•

en:onset in adulthood (third to fourth decade)

•

en:onset of hypoglycemia and hyperinsulinism in the neonatal period

•

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

•

en:onset of muscle weakness around age 5 years

•

en:patients may have recurrent infections due to immunosuppressive therapy

•

en:patients with the autosomal recessive disorder have a more severe phenotype

•

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

•

en:patients walk on tips of toes with dorsal foot deviated laterally

•

en:onset between 8 and 30 years

•

en:patients often require implantation of a pacemaker

•

en:patients may require implantable cardioverter defibrillators

•

en:patients may be asymptomatic, but are at risk for metabolic decompensation

•

en:onset of tremor usually before onset of seizures

•

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

•

en:pathogenic alleles contain greater than 41 repeats

•

en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity)

•

en:paris-trousseau thrombocytopenia can occur in jacobsen syndrome (147791) in which similar platelet defects are accompanied by facial dysmorphism, cardiac defects, mental retardation, and deletion at 11q23

•

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

•

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

•

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

•

en:onset by age 2 years

•

en:one family reported (as of may 2012)

•

en:onset at day 1 of life has been reported

•

en:normal alleles have 4 to 18 repeats

•

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

•

en:no response or worsening with acetylcholinesterase inhibitors

•

en:no history of familial hypercholesterolemia

•

en:not all patients have facial dysmorphism

•

en:normal physical and neurologic development

•

en:normal development until onset of seizures

•

en:nonprogressive or slowly progressive

•

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

•

en:neonatal lethal due to respiratory insufficiency

•

en:n-myc oncogene (164840) amplification is associated with poor prognosis

•

en:mutations show partial penetrance

•

en:most patients lose ambulation 2 years after onset

•

en:most patients die in first years of life

•

en:most patients become wheelchair-bound in later childhood

•

en:often reared as females until puberty

•

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

•

en:onset at 4 to 9 weeks of age

•

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

•

en:onset around adolescence in males

•

en:onset after puberty

•

en:onset 8-20 years

•

en:onset 3 months of age up to 5 years

•

en:onset 14 months to 4 years of age

•

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

•

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

•

en:one consanguineous pakistani reported (last curated july 2015)

•

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

•

en:one family with 2 affected brothers has been reported (last curated november 2012)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:rapidly progressive

•

en:phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, 274150)

•

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

•

en:two patients with point mutations in rad21 have been reported (last curated july 2012)

•

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

•

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

•

en:tremor may be elicited by movement or postural maintenance

•

en:tremor is aggravated by emotional stress

•

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

•

en:three unrelated patients have been reported (last curated january 2010)

•

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

•

en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012)

•

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

•

en:thin, fine hair described in few individuals

•

en:systemic iron overload due to ineffective erythropoiesis

•

en:symptoms are often responsive to alcohol

•

en:swelling starts to fade by age 30 years and gradually becomes unremarkable

•

en:survivors have mental retardation, spasticity, and adducted thumbs (masa syndrome findings (303350))

•

en:two thirds of patients are female

•

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

•

en:stillborn or death shortly after birth

•

en:variable infectious phenotype

•

en:variation in slc24a5 has also been associated with variation in skin color (shep4)

•

en:variably expressivity

•

en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism

•

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

•

en:variable presentation and evolution of symptoms

•

en:variable number of nails involved

•

en:variable expression

•

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

•

en:variable disease severity

•

en:variable age of onset (childhood to adult)

•

en:variable age of onset

•

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

•

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

•

en:usually occurs in young adults

•

en:usually fatal by age 5 years

•

en:subtype 3c (231005) comprises cardiovascular calcifications

•

en:spontaneous bleeding is rare

•

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

•

en:progressive disorder due to secondary myopathy

•

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

•

en:response to zinc supplementation

•

en:reduced penetrance in females

•

en:most common muscle disease of older persons

•

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

•

en:progressive renal disorder

•

en:progresses through puberty, then stabilizes

•

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

•

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

•

en:prevalent among individuals of east asian descent

•

en:prevalence of sleepwalking about 3% in adults

•

en:presents at a later age than sporadic wilms tumor

•

en:possibly allelic to cohen syndrome (216550)

•

en:poor response to the c5 inhibitor eculizumab

•

en:phenotypic similarities to costello syndrome (218040)

•

en:reticulate hyperpigmentation onset birth - 2 years

•

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

•

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

•

en:some patients may die from cardiomyopathy in the first or second decade of life

•

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

•

en:some patients do not develop stroke

•

en:some patients are asymptomatic and detected only by newborn screening

•

en:some features are variably present

•

en:some features are variable, even within families

•

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

•

en:see also distal hmn2a (158590)

•

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

•

en:severe hearing loss by age 50 years

•

en:seizures occur upon awakening

•

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

•

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

•

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

•

en:see also hmn2b (608634)

•

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

•

en:may be x-linked

•

en:most common disorder of fatty acid oxidation (1/13,000 births)

•

en:broad-based gait

•

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

•

en:characterized by calf weakness at onset

•

en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400

•

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

•

en:carrier females are unaffected

•

en:cardiac failure at birth

•

en:body habitus becomes apparent in childhood

•

en:classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad

•

en:blistering and erosions tend to occur on extensor surfaces or over bony prominences

•

en:bleeding is usually delayed-onset after challenge

•

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

•

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

•

en:based on report of 1 3-generation family (last curated november 2014)

•

en:based on four patients in a four generation family

•

en:chronic course with exacerbations and remissions

•

en:complementation group b (represented by single atypical patient)

•

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

•

en:death within first months or years of life

•

en:diurnal fluctuation of symptoms

•

en:distinguished from nbia1 by the presence of hypobetalipoproteinemia and acanthocytosis

•

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

•

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

•

en:delayed psychomotor development apparent in infancy

•

en:defect in urocanic acid conversion to formiminoglutamic acid (figlu)

•

en:death usually occurs in infancy or childhood if untreated

•

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

•

en:death usually occurs by age 2 years

•

en:death usually in infancy or early childhood

•

en:death in utero (30%)

•

en:death due to respiratory failure or infection

•

en:death before age 3 years

•

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

•

en:considered a benign disorder

•

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

•

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

•

en:earlier onset is associated with more aggressive disease course

•

en:87% patients are female

•

en:affected individuals remain ambulatory in old age

•

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

•

en:adult onset (18 to 60 years)

•

en:acute neurologic deterioration after viral illness has been reported

•

en:acute encephalopathic episodes may occur

•

en:absence of both inner and outer dynein arms of cilia

•

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

•

en:affected infants often die in utero or in the postnatal period

•

en:2-3% due to imprinting defects

•

en:(1) classic severe (onset of symptoms 4 to 7 days of age)

•

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

•

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

•

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

•

en:health data repository:id:pt:repository:nom

•

en:visual impairment is present at birth and is progressive

•

en:affected infants appear normal at birth

•

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

•

en:a minority of patients have onset after age 30 years

•

en:associated with fragile x syndrome (300624)

•

en:average age at onset 16.6 years

•

en:autosomal recessive inheritance with earlier onset has been suggested

•

en:autosomal recessive inheritance has also been reported

•

en:autosomal recessive inheritance (245600) has also been suggested

•

en:aura may occur

•

en:associated with smoking

•

en:approximately 60% of brrs patients have pten mutations

•

en:age of onset usually 1 week to 2 years

•

en:almost all patients require total parenteral nutrition

•

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

•

en:allelic to joubert syndrome 5 (610188) and leber congenital amaurosis type x (610142)

•

en:allelic to acromesomelic dysplasia, hunter-thompson type (201250), brachydactyly, type c (113100), and fibular hypoplasia nd complex brachydactyly (228900)

•

en:allelic disorder to autosomal recessive form (224900)

•

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

•

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

•

en:dramatic late catch-up growth occurs in adolescence

•

en:early death (mean age 13 months)

•

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

•

en:increased tendency to chromosomal nondisjunction

•

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

•

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

•

en:lifelong occurrence

•

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

•

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

•

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

•

en:increased susceptibility to neisseria infections

•

en:loss of independent ambulation in the second decade

•

en:increased risk of bilateral breast cancer

•

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

•

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

•

en:increased frequency in ashkenazi jewish population and in finland

•

en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease

•

en:incidence of 1 in 1,000,000

•

en:limb-girdle muscular dystrophy 1b (lgmd1b, 159001) is an allelic disorder with an overlapping phenotype

•

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

•

en:incidence 1/1,200-1/15,000 live births

•

en:mean age of onset 50 to 52 years

•

en:mild symptoms may occur in teenage years

•

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

•

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

•

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

•

en:median age of diagnosis is 28 years

•

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

•

en:mean age of onset, 5 years

•

en:male to female ratio 4:1

•

en:mean age of diagnosis 40 years

•

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

•

en:mean age at onset 57-60 years

•

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

•

en:may be associated with other anomalies (e.g. okihiro syndrome (607323), wildervanck syndrome (314600))

•

en:maternal imprinting

•

en:many cases are asymptomatic

•

en:incidence is less than 1 in 70,000 births

•

en:hypertension is presenting sign

•

en:early death often due to respiratory complications

•

en:favorable response to a ketogenic diet

•

en:female carriers may develop mild hearing loss as adults

•

en:females tend to have earlier onset

•

en:females more severely affected than males

•

en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients)

•

en:features in addition to mental retardation are variable

•

en:features based on one australian/uk family with tmem98 mutation (last curated august 2014)

•

en:facial dysmorphism is uncommon

•

en:fetal death usually occurs

•

en:extreme phenotypic variability

•

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

•

en:estimated carrier frequency of 10-25% in yarmouth county, nova scotia

•

•

en:epiphyseal stippling is gone by 8 months of age

•

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

•

en:early onset (1 month to 4 years)

•

en:female carriers may have mild hearing impairment

•

en:findings in muscle biopsy may be variable

•

en:hyperkeratosis triggered by chronic mechanical irritation

•

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

•

en:highly variable phenotype with regard to pigmentation

•

en:highly variable pathologic phenotype

•

en:heterozygous females show variable expressivity (mild to severe manifestations) including hypodontia, conical teeth, reduction in scalp/body hair, and difficulty nursing

•

en:hearing loss may be stable or progressive

•

en:green color resolves if cholestasis is treated

•

en:gradual progression of hearing loss

•

en:gene frequency in northwest puerto rico 1 in 18

•

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

•

en:genetic heterogeneity (see cmt4b2, 604563)

•

en:genetic heterogeneity (see 607634)

•

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

•

en:four clinical forms of krabbe disease

•

en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900)

•

en:for similar autosomal recessive form, see cln4 (204300)

•

en:for a similar phenotype with genital anomalies and disordered steroidogenesis see por deficiency (201750)

•

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

•

en:onset at age 10 to 14 years

•

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

•

en:onset usually in childhood (range 6 months to 16 years)

•

en:pain is relieved by antiinflammatory medication

•

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

•

en:ossification evident 2-8 months following swelling

•

en:onset usually in second decade

•

en:onset usually in first year of life

•

en:onset usually in childhood or adolescence

•

en:onset usually in adulthood

•

en:patients from 4 unrelated families have been reported (as of october 2011)

•

en:onset of symptoms 2-4 weeks of age

•

en:onset of spasticity by age 2 years

•

en:onset of seizures in first months of life

•

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

•

en:onset of seizures around 7 to 12 years

•

en:onset of mental impairment in early childhood

•

en:pathogenic alleles have 19 to 33 repeats

•

en:patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations

•

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

•

en:progression more frequent in men than women

•

en:sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 (613289) and atxn8-opposite strand (603680)

•

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

•

en:rash, edema, and arthralgia may occur during crisis

•

en:rare spontaneous improvement occurs (8%)

•

en:psychiatric symptoms may be the presenting sign

•

en:progressive disorder, with older patients exhibiting more severe symptoms

•

en:prevalence of sleep terrors less than 1% in adults

•

en:patients of brazilian origin have a pure cerebellar atrophy

•

en:prevalence of 1 in 70,000

•

en:prevalence of 1 in 3,000

•

en:prevalence in slovenia is 1 in 43,000

•

en:prevalence estimated at 1 in 86,000

•

en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death

•

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

•

en:patients remain ambulatory

•

en:onset of hearing loss in late childhood

•

en:onset of disease before 7 years of age

•

en:see also autosomal dominant form (176860)

•

en:not responsive to steroid treatment

•

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

•

en:older patients become wheelchair-dependent

•

en:often fatal due in infancy due to intractable diarrhea

•

en:occurs in full-term newborns

•

en:figure associated with report or note:-:point in time:^patient:-

•

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

•

en:normal alleles have 25 to 44 repeats

•

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

•

en:non-progressive or very slowly progressive

•

en:neonatal severe hyperparathyroidism in homozygotes (239200)

•

en:natural aversion to carbohydrates

•

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

•

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

•

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

•

en:one family had normal cognitive and neurologic development

•

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

•

en:onset in third to fourth decade

•

en:onset before age 20

•

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

•

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

•

en:onset in early twenties

•

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

•

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

•

en:onset birth to 6 months

•

en:onset before 50 years of age

•

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

•

en:onset at 4 years of age

•

en:onset after third decade

•

en:onset 6 to 12 months

•

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

•

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

•

en:one patient described (last curated december 2013)

•

en:one family reported (last curated november 2013)

•

en:see also autosomal dominant form (128230)

•

en:see also autosomal dominant hypophosphatemic rickets (193100)

•

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

•

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

•

en:variable age at onset (range from early childhood to mid-adult)

•

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

•

en:urine turns dark on standing and alkalinization

•

en:upper urinary tract usually normal

•

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

•

en:type ii is progressive and leads to shortened lifespan

•

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

•

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

•

en:two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood

•

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

•

en:two unrelated girls reported (last curated october 2013)

•

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

•

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

•

en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014)

•

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

•

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

•

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

•

en:very few patients reported

•

en:hyaloideoretinal degeneration of wagner

•

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

•

en:weakness during pregnancy in affected females

•

en:warm weather and alcohol are alleviating factors

•

en:vhl type 2a - hemangioblastoma and pheochromocytoma

•

•

en:variably severity

•

en:variable age of onset of renal manifestations

•

en:variable survival (some neonatal lethality)

•

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

•

en:variable presentation

•

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

•

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

•

en:variable ictal semiology

•

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

•

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

•

en:treatment with oral folic acid can ameliorate, resolve, or prevent clinical symptoms and myelination defects

•

en:see also dyggve-melchior-clausen disease (223800)

•

en:similar phenotype to x-linked hypophosphatemia (xlh, 307800)

•

en:some patients do not develop renal failure

•

en:some patients acquire late ambulation

•

en:solitary disease is more common in males

•

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

•

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

•

en:similar to spondylometaphyseal dysplasia, type a4 (609052) but without anterior tonguing of vertebrae

•

en:shields classification -

•

en:some patients have an attenuated phenotype

•

en:severe volume depletion

•

en:severe incapacitation in 10-20 years

•

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

•

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

•

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

•

en:see also mmab (251110)

•

en:see also familial developmental dysphasia (600117)

•

en:some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa

•

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

•

en:thyroid gland carcinoma

•

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

•

en:thromboembolism is the most common cause of death

•

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

•

en:three affected sibs have been reported

•

en:thiamine supplementation may be beneficial

•

en:t-cell lymphopenia is more severe early in life

•

en:symptoms usually occur in adults

•

en:symptoms often decrease or remit with age

•

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

•

en:symptoms induced by strenuous exercise

•

en:symptoms are not apparent at rest

•

en:sudden death in affected males occurs in teens

•

en:subset of patients with sco2 (604272) mutations have cardioencephalomyopathy (604377)

•

en:stillborn or infantile death usual in prenatal form

•

en:splenectomy increases thrombotic risk in these patients

•

en:some patients with vitelliform macular dystrophy are homozygous or compound heterozygous for mutations in best1, with their heterozygous relatives showing milder forms of eye disease

•

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

•

en:occasionally germ cell tumor arise from extra gonadal site (e.g., mediastinum, retroperitoneum, pineal gland)

•

en:most patients are clinically asymptomatic

•

en:autosomal dominant dopa-responsive dystonia (dyt5, 128230) is an allelic disorder with overlapping features

•

en:carrier frequency in finland is 1 in 230

•

en:carrier females may have mild features

•

en:can be slowly or rapidly progressive

•

en:can be caused by mutations in nuclear-encoded or mitochondrial-encoded genes

•

en:both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia

•

en:autosomal dominant inheritance is more common

•

en:autosomal dominant (177000.0003)

•

en:clinically resembles spinal muscular atrophy-1 (sma1, 253300)

•

en:attacks often drug-induced

•

en:attacks may present during or after sleep

•

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

•

en:associated with susceptibility loci on chromosome 11p11 (clls1, 609630), 13q14 (clls2, 109543), 9q34.1 (clls3, 612557), 6p25.3 (clls4, 612558), and 11q24.1 (clls5, 612559)

•

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

•

en:approximately half of patients need ambulatory support after the fifth decade

•

en:caused by somatic mutations

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

•

en:anemia does not respond to alpha-interferon treatment

•

en:death often in first months of life

•

en:described in families from galicia, spain

•

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

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en:delayed separation of umbilical cord

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en:death within several months if untreated

•

en:death usually in teenage years

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

•

en:death in utero or in early infancy is common

•

en:comprises several subtypes, including

•

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

•

en:most common inherited ataxia

•

en:death in childhood may occur due to end-stage renal disease

•

en:death due to respiratory insufficiency within minutes to hours after birth

•

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

•

en:cyclic vomiting syndrome plus (cvs+) is characterized by additional neuromuscular and/or visceral organ manifestations (as indicated above)

•

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

•

en:appear normal at birth

•

en:allelic to the less severe harp syndrome (607236), which is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis

•

en:distinct disorder from galactosemia (230400)

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

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en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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

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en:service comment 64:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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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

•

en:service comment 54:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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

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

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en:(1) infantile nephropathic (219800)

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

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

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en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 20:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:service comment 14:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:service comment 12:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:metabolic rate^resting:engrto:pt:^patient:qn

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en:time of analysis:tmstp:pt:xxx:qn

•

en:12% due to epimutation

•

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

•

en:allelic disorder is brugada syndrome (601144)

•

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

•

en:allelic to aicardi-goutieres syndrome (225750)

•

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

•

en:allelic disorder to stickler syndrome 3 (184840)

•

en:allelic disorder to miyoshi myopathy (254130) and distal myopathy with anterior tibial onset (606768)

•

en:allelic disorder to ifap syndrome (308205)

•

en:aggressive malignancies

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en:14% of patients survive with polyhydramnios

•

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

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en:adult onset - 100-1,000 repeats

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en:adult onset (sixth decade)

•

en:about 50% of patients have intellectual disability and/or hydrocephalus

•

en:7 unrelated patients have been reported

•

en:50% of females have learning disability or mild mental retardation

•

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

•

en:disease usually progresses in a cephalocaudal direction

•

en:death in infancy in 2 patients

•

en:due to lack of epidermal ridging, patients lack fingerprints

•

en:increased frequency among japanese and chinese

•

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

•

en:lack of treatment results in early death

•

en:juvenile onset 4 years to puberty

•

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

•

en:dwarfism not detectable at birth

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en:increased susceptibility to malignant hyperthermia

•

en:incomplete penetrance in carrier females

•

en:low physical performance

•

en:incidence of 1 in 120,000 live births

•

en:incidence of 12.2 per 100,000 in finland

•

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

•

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

•

en:hip joint replacement often necessary

•

en:high incidence among ashkenazi jews

•

en:long duration

•

en:majority of cases from middle eastern countries

•

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

•

en:mean age at onset 30.7 years (range 6 to 60 years)

•

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

•

en:more common in males

•

en:more commonly observed in women

•

en:mean age of onset 50.2 years

•

en:mean age of onset 14-24 months

•

en:mean age at resolution of symptoms 10 years

•

en:may result in sudden death

•

en:majority of individuals are healthy

•

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

•

en:marked favorable response to l-dopa treatment

•

en:many studies have reported that the phenotype of tuberous sclerosis-1 (tsc1) is less severe than that of tuberous sclerosis-2 (i.e., higher iq, less macules, fewer seizures)

•

en:many adults with typical form remain ambulatory

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en:male infertility

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en:males died in neonatal period

•

en:males are more severely affected than females

•

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

•

en:intrafamilial variability in severity of hypothyroidism

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en:heterozygous females more mildly affected than hemizygous males

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en:extreme clinical heterogeneity

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en:few familial (parent offspring) cases reported

•

en:fever, muscle cramping, and poor feeding remit by age 2 years

•

en:favorable response to oral creatine treatment

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en:favorable response to l-dopa without side effects

•

en:favorable response to anticonvulsants

•

en:favorable response to 3,4-diaminopyridine

•

en:exacerbation at puberty

•

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

•

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

•

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

•

en:episodes last 2 days to 1 week

•

en:endocrine abnormalities confined to kidney

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

•

en:early death (in some patients)

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

•

en:five clinical variants of msud unassociated with genotype

•

en:episodic decompensation is usually triggered by illness

•

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

•

en:genetic heterogeneity (see 213300)

•

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

•

en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years

•

en:genetic heterogeneity (see sca1, 164000)

•

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

•

en:genetic heterogeneity (see eca1, 600131 and eca3, 607682)

•

en:genetic heterogeneity (see bscl2, 269700)

•

en:genetic heterogeneity (see lqt1 192500)

•

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

•

en:gait difficulties and beginning of cognitive decline in first decade

•

en:genetic heterogeneity, see edm1 (132400), edm2 (600204), edm3 (600969), and edm5 (607078)

•

en:genetic heterogeneity, see (203300)

•

en:genetic anticipation associated with progressive telomere shortening

•

en:generally static disease course

•

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

•

en:genetic heterogeneity, see evr1 (133780)

•

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

•

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

•

en:tremors develop after seizures

•

en:treatment with levodopa is not effective

•

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

•

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

•

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

•

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

•

en:this patient died at age 2 years

•

en:two of 3 patients became wheelchair-bound

•

en:two families have been reported (september 2010)

•

en:variable response to acetylcholinesterase inhibitors

•

en:two sibs died before 2 years of age

•

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

•

en:two unrelated patients have been reported (last curated december 2010)

•

en:ultrasound detection in second trimester of pregnancy

•

en:usually fatal

•

en:usually follows a static course or is slowly progressive

•

en:variable age at onset

•

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

•

en:visual symptoms present by late childhood

•

en:wheelchair-bound average 12 years after onset

•

en:women may be mildly affected

•

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

•

en:the majority of patients (~95%) have 1 of 3 mtdna point mutations (g3460a 516000.0001, g11778a 516003.0001, or t14484c 516006.0001)

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=8036992 • caches: c1=8 c2=1003 c3=1

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