Le Diko - en:seizures remit spontaneously by age 5 years

waiting

Le Diko - en:seizures remit spontaneously by age 5 years

Javascript doit fonctionner ! Activez-le et rechargez cette page.

le dictionnaire d'associations lexicales
contributif et libre de JeuxDeMots

en:seizures remit spontaneously by age 5 years

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

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

•

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

•

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:see also glut1ds2 (612126), an allelic disorder with a less severe phenotype

•

en:other variants of waardenburg syndrome include waardenburg syndrome type 1 (193500), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580)

•

en:other muscle become involved about 5 years after onset

•

en:onset at or soon after birth

•

en:one patient died at age 7 years

•

en:one large family has been reported (as of 2008)

•

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

•

en:most pregnancies with affected fetuses resulted in elective termination

•

en:independent ambulation is maintained

•

en:incidence in the finnish population of 0.2-1.3 cases per million per year

•

en:estimated frequency 1.6 cases/10,000 live births

•

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

•

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

•

en:death usually in infancy or early childhood

•

en:death in utero (30%)

•

en:death in early childhood may occur

•

en:based on report of one polish roma patient (last curated november 2014)

•

en:based on 13 patients in one family (last curated november 2012)

•

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

•

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

•

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

•

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

•

en:service comment 74:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

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

•

en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013)

•

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

•

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

•

en:variable age of onset, from early childhood to seventh decade of life

•

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

•

en:some patients never achieve walking or running

•

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

•

en:severe infections in untreated patients with neutropenia

•

en:pain in lower limb

•

en:onset in young adulthood (range 18 to 23 years)

•

en:onset between age 4 to 7 months

•

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

•

en:motor fluctuations

•

en:mother who carries the mutation is clinically unaffected

•

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

•

en:some patients may show response to immunosuppressive agents

•

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

•

en:death may occur in the first decade

•

en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss

•

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

•

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

•

en:all reported mutations have occurred de novo

•

en:alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype

•

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

•

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

•

en:female carriers may have asymptomatic proteinuria or hypercalciuria

•

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

•

en:genetic heterogeneity (see 606215)

•

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

•

en:symptoms precipitated by sudden movements

•

en:patients are severely disabled as adults

•

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

•

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

•

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

•

en:severity of hematologic disorder decreases with advancing age

•

en:see also hmn2b (608634)

•

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

•

en:prevalence of 1 in 28,000 caucasians

•

en:phenotypic similarities to leigh syndrome (256000)

•

en:described in families from galicia, spain

•

en:onset of neurologic events can occur between 4 and 35 years of age

•

en:onset of hypoglycemia and hyperinsulinism in the neonatal period

•

en:onset at 5-24 months

•

en:onset 13-15 years

•

en:mutation in npr2 results in gain-of-function

•

en:male to female ratio 21:8

•

en:based on one report of 3 consanguineous pakistani families (last curated august 2015)

•

en:age of onset 30 to 60 years

•

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

•

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

•

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

•

en:many adults with typical form remain ambulatory

•

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

•

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

•

en:adult onset (thirties to forties)

•

en:variable clinical presentation that may change with age

•

en:ultrasound detection in second trimester of pregnancy

•

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

•

en:symptoms are not relieved by alcohol

•

en:women are more often affected

•

en:slow, progressive growth, then stable

•

en:patients may become wheelchair-bound

•

en:patients achieve ambulation

•

en:some patients show improvement during summer or with fever

•

en:onset of cough in early adulthood

•

en:males tend to have earlier onset than females

•

en:interfamilial and intrafamilial clinical heterogeneity

•

en:genomic duplications occur de novo

•

en:dysmorphic features are mild or variable

•

en:distinct disorder from galactosemia (230400)

•

en:death often in childhood

•

en:childhood or young adult onset

•

en:childhood onset (average 4 to 6 years)

•

en:adult onset of neurologic symptoms has been reported in 1 family

•

en:no dysmorphic features

•

en:onset usually in first or second decades

•

en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001)

•

en:may result in death in neonatal period or early childhood

•

en:older patients become wheelchair-dependent

•

en:onset in infancy (1-2 years)

•

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

•

en:present in infancy in all affected individuals

•

en:prevalence of sleepwalking about 3% in adults

•

en:see 255160 for an autosomal recessive form

•

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

•

en:the lower the s-ado:saicar ratio, the more severe the phenotype

•

en:infants are stillborn or die before age 1

•

•

en:approximately 50db loss in adulthood

•

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

•

en:increased penetrance of phenotype when there is maternal transmission of the mutant allele

•

en:highly variable dysmorphic features

•

en:genetic heterogeneity (see 609192)

•

en:frequency of attacks may decrease with age or during pregnancy

•

en:death in infancy secondary to kernicterus

•

en:clinically mimics congenital torch infections (see 251290)

•

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

•

en:both recessive and dominant inheritance have been reported

•

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

•

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

•

en:visceral manifestations are less apparent

•

en:adult onset (third decade)

•

en:service comment 16:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:date of observation:time stamp -- date and time:point in time:to be specified in another part of the message:quantitative

•

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

•

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

•

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

•

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

•

en:usually sporadic

•

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

•

en:two families have been reported (as of 6/2011)

•

en:two families described (last curated july 2013)

•

en:treatment with coq10 may result in some clinical improvement

•

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

•

en:one family with a cacna1b mutation has been reported (last curated march 2015)

•

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

•

en:one chinese family with 14 affected individuals has been described (last curated february 2014)

•

en:no chronic or permanent liver damage

•

en:neurologic features have been diagnosed in ~30% of cases

•

en:most patients become wheelchair-bound in later childhood

•

en:most cases due to de novo mutation

•

en:maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother

•

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

•

en:genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold

•

en:alpha thalassemia-mental retardation syndrome

•

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

•

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

•

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

•

en:allelic to nephronophthisis 4 (606966)

•

en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200)

•

en:adult onset form usually presents with psychiatric manifestations

•

en:based on report of 2 consanguineous arab families (last curated november 2014)

•

en:death secondary to respiratory insufficiency

•

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

•

en:episodes of fatigue or weakness (in some patients)

•

en:four cases have been reported, all female

•

en:common in afrikaan population, south africa

•

en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014)

•

en:see also congenital stiff person syndrome (149400)

•

en:pectus carinatum present in obligate carrier mothers

•

en:prenatal onset

•

en:primarily diagnosed in females

•

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

•

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

•

en:seizures tend to remit later in childhood

•

en:two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014)

•

en:variable age of onset (6 to 35 years)

•

en:variable involvement of hematologic parameters

•

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

•

en:late adult onset (after age 55 years)

•

en:may result in early death from severe diarrhea

•

en:episodes last 2 days to 1 week

•

en:later onset in adolescence has rarely been reported

•

en:hypertension is presenting sign

•

en:high risk of recurrence after surgery

•

en:highly variable phenotype in females

•

en:genetic heterogeneity (see cmt4a 214400)

•

en:fifty percent of cases secondary to new mutations

•

en:facial dysmorphic features are mild

•

en:described in one 5-generation pakistani family (last curated april 2013)

•

en:death before age 15 in iia

•

en:associated with a disease-specific sequence change, referred to as 'dsc3,' within an open-reading frame (orf) of a 'multiple transcript system' known as dyt3

•

en:anemia may be responsive to iron chelation treatment

•

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

•

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

•

en:axial skeleton most commonly affected

•

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

•

en:funduscopy before 2 years of age is unremarkable

•

en:based on one large consanguineous tunisian family with limited clinical information (last curated august 2015)

•

en:new skin lesions stop appearing before adolescence

•

en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures

•

en:thromboembolism is the most common cause of death

•

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

•

en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints

•

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

•

en:symptoms occur only during sleep

•

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

•

en:prevalence of 1 in 1,500

•

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

•

en:other tumors may also occur

•

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

•

en:onset from first to third decades of life

•

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

•

en:phenotypic similarities to costello syndrome (218040)

•

en:most patients die of renal failure in early adulthood

•

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

•

en:clinical and biochemical abnormalities improve with age

•

en:increased susceptibility to infections

•

en:contiguous gene deletion syndrome of 5q31

•

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

•

en:five patients have been reported (as of 8/2011)

•

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

•

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

•

en:genetic heterogeneity, see aprm2 (610422)

•

en:group c is relatively benign

•

en:hid (hystrix-like ichthyosis with deafness, 602540) is identical to kid at the molecular level

•

en:incidence of 1 in 5,000 to 1 in 7,000 in moroccan jewish individuals

•

en:incomplete penetance of some features

•

en:type i b5r endemic in athabascan indians, navajo indians, and yakutsk natives of siberia

•

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

•

en:reduced penetrance (approximately 54%)

•

en:see also pfm3 on chromosome 4q21-q23 (609566)

•

en:three patients have been reported (as of february 2012)

•

en:treatment with bh4 is effective

•

en:both heterozygous and homozygous pax3 mutations have been found

•

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

•

en:adult onset (20 to 40 years)

•

en:allelic to birt-hogg-dube syndrome (135150)

•

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

•

en:based on one sib pair each in their seventies

•

en:onset of symptoms in second to third decades of life

•

en:onset ranges from childhood to young adulthood

•

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

•

en:onset in the first 2 years of life

•

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

•

en:hyperkeratosis triggered by chronic mechanical irritation

•

en:high recurrence rate

•

en:f syndrome (102510) has many overlapping features

•

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

•

en:fatal without bone marrow transplantation

•

en:diarrhea persists even with vigorous nursing

•

en:contiguous gene deletion syndrome at chromosome 6p

•

en:carrier frequency 1:1,000 in french-canadians in quebec

•

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

•

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

•

en:affected individuals are negative for dermatographism

•

en:87% patients are female

•

en:favorable response to ephedrine treatment

•

en:familial form - constitutional deficiency of vwf-cleaving protease

•

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

•

en:genetic heterogeneity (see 166600)

•

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

•

en:homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome (176261.0001)

•

en:variable presentation and evolution of symptoms

•

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

•

en:variable age at onset (birth to adolescence)

•

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

•

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

•

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

•

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

•

en:sporadic occurrence

•

en:some patients may have normal psychomotor development

•

en:some patients develop ophthalmoplegia in middle age

•

en:severe clinical course

•

en:see also ecyt2 (263400) and ecyt3 (609820)

•

en:retinitis punctata albescens and macular degeneration starting in late childhood to early teens

•

en:variable response to steroid treatment

•

en:rare adult cases reported

•

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

•

en:incidence of 1 in 25,000 to 1 in 50,000 newborns

•

en:increased risk of developing multiple primary cancers

•

en:in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns

•

en:less severe phenotype in females

•

en:mean age at diagnosis 16 years (range 6 to 22)

•

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

•

en:one family has been reported

•

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

•

en:onset of epiphyseal dysplasia and growth retardation in first 2 years of life

•

en:onset of hearing loss in second decade

•

en:onset of thrombocytopenia in early childhood

•

en:prenatal or neonatal onset

•

en:psychiatric symptoms may be the presenting sign

•

en:onset usually in young adulthood

•

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

•

en:one family of sicilian origin has been reported (last curated february 2016)

•

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

•

en:onset of optic atrophy in infancy or early childhood

•

en:some patients may have residual muscle weakness

•

en:persistent bleeding after injury or surgery

•

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

•

en:phenotypic variation (may affect language expression, reception, and/or articulation)

•

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

•

en:severe infantile form presents before 6 months

•

en:neurologic features are variable and not progressive

•

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

•

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

•

en:may be due to imprinting defect

•

en:macular degeneration only occurs in some patients at very late age (over 70)

•

en:incidence of 0.51 per million in france

•

en:hair, nails, and teeth are normal

•

en:griscelli syndrome type 3 (609227) for a similar disorder without neurologic or immunologic abnormalities

•

en:feet are unaffected in some patients

•

en:familial form

•

en:end-stage renal failure may occur

•

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

•

en:death usually by age 3 years

•

en:death before age 40

•

en:based on 2 families described with no mutations in the vitamin d receptor gene (vdr, 601769)

•

en:autoimmune features are variable

•

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

•

en:vast majority of heterozygotes are asymptomatic

•

en:survival 30 to 40 years after onset

•

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

•

en:performing laboratory medical director:id:pt:facility:nom

•

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

•

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

•

en:upper urinary tract usually normal

•

en:46,xx carriers are unaffected

•

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

•

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

•

en:therapy-induced dyskinesias

•

en:sudden death secondary to impaction of medulla oblongata

•

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

•

en:response to benadryl (diphenhydramine)

•

en:possibly allelic to cohen syndrome (216550)

•

en:onset of tremor usually before onset of seizures

•

en:onset between 3 and 11 years of age

•

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

•

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

•

en:median age at diagnosis 7 years

•

en:empiric risk for a sib of an affected child between 2 and 5%

•

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

•

en:98% of finnish cases due to one mutation

•

en:benign trait

•

en:clinical features based on 1 reported family (last curated august 2013)

•

en:diagnosis in seventh decade of life

•

en:allelic to hand osteoarthritis (607850)

•

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

•

en:may be seen in combination with duchenne muscular dystrophy (dmd, 310200) and/or glycerol kinase deficiency (307030) as part of a contiguous gene deletion syndrome

•

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

•

en:good response to l-dopa initially

•

en:increased risk of miscarriage

•

en:leopard is an acronym: lentigines, ekg abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and deafness

•

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

•

en:highly variable clinical phenotype

•

en:inheritance pattern is unclear

•

en:main aspects of phenotype attributed to defects in gtf2ird1 (604318) and gtf2i (601679)

•

en:most children become wheelchair-bound

•

en:onset usually in early adolescence

•

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

•

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

•

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

•

en:see also autosomal dominant form (160800), which is less common and less severe

•

en:hearing loss may be stable or progressive

•

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

•

en:alpha-l-iduronidase activity is <1% for all forms of mps1

•

en:genetic heterogeneity (see hcfp2, 604185)

•

en:early lethality in most cases

•

en:death usually in sixth decade

•

en:clinical and biochemical abnormalities disappear with age

•

en:bone abnormalities improve with age

•

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

•

en:autosomal dominant inheritance has been reported in a single family

•

en:allelic to retinitis punctata albescens (136880), fundus albipunctatus (136880), autosomal recessive retinitis pigmentosa (268000), newfoundland rod-cone dystrophy (607476)

•

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

•

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

•

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

•

en:see also pachyonychia congenita, type 3 (pc1, 167200)

•

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

•

en:incomplete penetrance in carrier females

•

en:see joubert syndrome 7 (611560), an allelic disorder with a less severe phenotype

•

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

•

en:variable age of onset (childhood to adulthood)

•

en:variable age at onset (range 15 to 60 years)

•

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

•

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

•

en:systemic amyloid deposition may occur

•

en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions

•

en:prevalence 1 in 1,250

•

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

•

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

•

en:one family with 2 sisters have been reported (as of march 2010)

•

en:mean age of death is 34 years

•

en:onset of malignancy can occur throughout life

•

en:some features not found in all patients

•

en:1 in 19,000 in japan

•

en:fatal if renal transplant is not performed

•

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

•

en:type 1 porencephaly is usually unilateral and results from destructive lesions

•

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

•

en:two consanguineous families with 2 patients each have been reported (last curated august 2015)

•

en:age of onset/diagnosis 12-35 years

•

en:allelic to noonan syndrome (163950)

•

en:defect in tetrahydrobiopterin (bh4) synthesis

•

en:environmental triggers - cold and wet exposure

•

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

•

en:onset of osteoarthritis in teens to early adulthood

•

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

•

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

•

en:onset in adolescence or adulthood

•

en:onset in childhood or as young adult

•

en:physical features are apparent at birth

•

en:onset of symptoms after age 5

•

en:patients do not exhibit skin pigmentation changes

•

en:three sibs from one consanguineous turkish family with an slc9a1 mutation has been reported (last curated april 2015)

•

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

•

en:two thirds of patients are female

•

en:most cases result from de novo mutations

•

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

•

en:(1) infantile nephropathic (219800)

•

en:metabolic decompensation, episodic

•

en:mean age of onset 50 to 52 years

•

en:may fade with age

•

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

•

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

•

en:distinct disorder from autosomal dominant hyper ige syndrome (147060)

•

en:death in untreated children

•

en:death at 20 to 40 years

•

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

•

en:based on 1 large swiss german kindred (last curated august 2015)

•

en:adult onset (mid-forties)

•

en:adult onset (40 to 60 years old)

•

en:acute encephalopathic episodes may occur

•

en:up to 60% of female mutation carriers develop lobular breast cancer

•

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

•

en:juvenile myoclonic epilepsy (jme, 606904)

•

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

•

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

•

en:two brothers in a french family have been reported (last curated march 2015)

•

en:40% patients have associated abnormalities

•

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

•

en:rare survival to teens

•

en:rapidly progressive course

•

en:progresses through puberty, then stabilizes

•

en:possible x-linked inheritance

•

en:pavms occur more frequently in hereditary hemorrhagic telangiectasia 1 (hht1) than hht2

•

en:onset usually in adolescence

•

en:onset in neonatal period or early infancy

•

en:onset between 6 and 14 years

•

en:one patient died at 17 months of age

•

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

•

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

•

en:older individuals had moderate to severe hearing loss

•

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

•

en:adult onset (before 50 years)

•

en:most common subtype of frontotemporal dementia (600274)

•

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

•

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

•

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

•

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

•

en:adult form is asymptomatic

•

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

•

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

•

en:heterogeneous disorder

•

en:incidence of 1 in 1,000,000

•

en:median life expectancy, 13.4 years

•

en:delta-f508 present in 70% of alleles

•

en:variable response to acetazolamide and carbamazepine

•

en:visual acuity better than anticipated from ophthalmoscopic appearance

•

en:variably expressivity

•

en:variable severity, even within families

•

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

•

en:variable frequency and severity

•

en:some features may be progressive

•

en:variable phenotype, some patients have very mild symptoms

•

en:variable features and severity

•

en:variable expression of features

•

en:variable dysmorphic features

•

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

•

en:waddling gate

•

en:service comment 51:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:worsening of symptoms during sleep

•

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

•

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

•

en:service comment 07:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:service comment 39:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:blood glucose monitor with integrated lancing/blood sample

•

en:communication board, non-electronic augmentative or alternative communication device

•

en:abnormal transferrin pattern tends to improve with age

•

en:about 25% of cases due to new mutations

•

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

•

en:acquired form - presence of inhibiting autoantibody (igg) to vwf-cleaving protease

•

en:adult onset, usually 30's to 40's, but up to early 60's

•

en:variable age at onset from childhood to adulthood

•

en:adult onset (25-45 years)

•

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

•

en:tumor suppressor genes

•

en:variable age at onset (childhood to adulthood)

•

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

•

en:adult onset (mean of 30 years)

•

en:some patients can attend special school

•

en:some patients have a crouzon-like appearance

•

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

•

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

•

en:some patients may be clinically asymptomatic

•

en:some patients report increased tolerance to heat

•

en:spasticity is slowly progressive

•

en:static or slowly progressive

•

•

en:symptoms induced by strenuous exercise

•

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

•

en:symptoms worsen with fatigue and exercise

•

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

•

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

•

en:variable abnormalities

•

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

•

en:two loci described - eec1 (129900) and eec3 (604292)

•

en:two main phenotypes, severe and mild

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:type ii patients are usually japanese and have significant aprt activity (10-25%)

•

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

•

en:usually favorable response to treatment

•

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

•

en:adult onset (mean 60 years)

•

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

•

en:adult onset - 100-1,000 repeats

•

en:carrier females show no clinical phenotype

•

en:a subset of patients have a 'visual variant'

•

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

•

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

•

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

•

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

•

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

•

en:skeletal and facial features are variable

•

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

•

en:blistering tends to improve with age

•

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

•

en:can be treated by bone marrow transplantation

•

en:can resemble autosomal dominant inheritance with incomplete penetrance because the disorder often results from inheritance of a null fech allele in trans with a low-expression fech mutation (612386.0015) that is prevalent in some populations

•

en:carrier females are normal

•

en:carrier females may have mild features

•

en:childhood or adolescent onset, protracted, with myopathy and neuropathy

•

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

•

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

•

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

•

en:common in populations of finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70)

•

en:complementation group c (variant mliii, 252605)

•

en:compound heterozygosity common

•

en:corneal diameter decreases with decreasing axial length

•

en:death in early infancy

•

en:death in infancy or early childhood

•

en:death in teens secondary to cardiac failure

•

en:death in utero

•

en:death may occur in childhood due to respiratory failure

•

en:death often in early infancy

•

en:death often in infancy

•

en:death usually in first year of life

•

en:autosomal recessive disorder tends to be more severe

•

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

•

en:adult onset has been rarely reported

•

en:allelic disorder to primary erythermalgia (133020)

•

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

•

en:affected, mild - 50-150 repeats

•

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

•

en:affected infants appear normal

•

en:affected males are somatic mosaic for mutations

•

en:age at diagnosis 2-4 months

•

en:age at onset ranges from early childhood to after age 50 years

•

en:age of onset varies from 5-32 years of age

•

en:aggravated by physical activity

•

en:alcohol may alleviate symptoms

•

en:allelic disorder to familial cylindromatosis (132700) and brooke-spielger syndrome (bss, 605041)

•

en:allelic disorder to juvenile primary lateral sclerosis (plsj, 606353)

•

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

•

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

•

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

•

en:attacks are not responsive to acetazolamide

•

en:allelic to bannayan-riley-ruvalcaba syndrome (153480), which has an earlier age at onset

•

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

•

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

•

en:allelic to pseudoachondroplasia (177170)

•

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

•

en:allelic to ulnar and fibula, absence of, with severe limb deficiency (al-awadi/raas-rothschild/schinzel phocomelia syndrome 276820)

•

en:allelic with smith-mccort dysplasia (607326)

•

en:all features are unilateral

•

en:antibodies can develop after pregnancy or transfusion

•

en:approximately 50% of patients have situs inversus

•

en:arrhythmias detected prenatally (in some patients)

•

en:associated with iron deficiency anemia

•

en:associated with untreated phenylketonuria (261600)

•

en:asymptomatic skin lesions begin on neck in third decade of life

•

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

•

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

•

en:significant clinical overlap with sotos syndrome (117550)

•

en:onset at birth or in first days or life

•

en:often confused with tuberous sclerosis (191000)

•

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

•

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

•

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

•

en:one family from the old order amish has been reported (last curated january 2015)

•

en:one family has been reported (as of october 2010)

•

en:one family reported (last curated november 2013)

•

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

•

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

•

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

•

en:onset 5 to 7 years

•

en:onset 6 months to 2.5 years

•

en:onset age 20 to 51 years

•

en:onset before age 20 years

•

en:no abnormalities of hair, teeth, or bones

•

en:onset between 35-43 years of age

•

en:onset between 3 and 6 months of age

•

en:onset between 6 and 12 months of age

•

en:onset between 6 and 15 years

•

en:onset between ages 1 to 3 years

•

en:onset early in first decade

•

en:onset in childhood (mean age 10 years)

•

en:onset in childhood (range birth to 10 years)

•

en:onset in early adulthood (average 26 years)

•

en:onset in first 2 decades

•

en:onset in first 2 decades of life

•

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

•

en:onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age

•

en:onset in first weeks to months of life

•

en:no family history of

•

en:not all patients have renal involvement

•

en:onset in lower limbs

•

en:mortality approximately 20% in first 2 years

•

en:death within first months or years of life

•

en:males are more commonly affected than females

•

en:males are more severely affected than females

•

en:males more frequently have severe lesions

•

en:may be asymptomatic

•

en:may be seen with other forms of cancer in a family

•

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

•

en:mean age at onset 57-60 years

•

en:mean age of onset 20.6 years

•

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

•

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

•

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

•

en:mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis

•

en:more common in women

•

en:most affected infants die shortly after birth from respiratory failure

•

en:normal alleles have 25 to 44 repeats

•

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

•

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:most patients die in infancy features of pseudoxanthoma elasticum, an allelic disorder, have not yet been reported in gaci2 patients (the 4 surviving patients reported as of january 2012 are all age 5 years or less)

•

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

•

en:motor symptoms develop later (about 5 years into illness)

•

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

•

en:mutations have been identified in spanish families

•

en:mutations occur de novo

•

en:nails may be intermittently involved

•

en:name sponastrime = spo (spondylo), nas (nasal), strime (striated metaphyses)

•

en:neonatal or infant death

•

en:nonprogressive or very slowly progressive

•

en:normal ability to tolerate heat

•

en:onset in fourth to sixth decades

•

en:onset in second decade

•

en:severe volume depletion

•

en:reported in the ohio amish anabaptist community

•

en:presents at birth or early childhood

•

en:prevalence much higher in whites than blacks

•

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

•

en:prevalence of true hypoprothrombinemia is 1 in 2 million

•

en:progression of phenotype with age

•

en:progressive disease is seen in some patients

•

en:progressive skeletal dysplasia

•

en:rapidly progressive

•

en:rarely reported in infants

•

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

•

en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy

•

en:relatively benign course after acute episodes in childhood

•

en:reported in 2 sibs (february 1991)

•

en:risk of thromboembolic stroke

•

en:prelingual onset in males

•

en:secondary tumors develop within the skin lesions

•

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

•

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

•

en:see also lethal neonatal (608836) and adult forms (255110)

•

en:see also more severe phenotype peeling skin syndrome (270300)

•

en:see also oca1a (203100)

•

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

•

en:see also pseudopseudohypoparathyroidism (612463)

•

en:see also x-linked alpha-thalassemia/mental retardation syndrome (301040)

•

en:see pkd1 (601313) due to mutation in polycystin 1 (601313), pkd2 (173910) due to mutation in polycystin 2 (173910), and pkd3 (600666)

•

en:seizures are easily controlled by medications

•

en:seizure frequency decreases during early childhood

•

en:severe hearing loss by age 50 years

•

en:severe hypertension develops in childhood

•

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

•

en:poor response to l-dopa

•

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

•

en:onset usually in second or third decades

•

en:onset in teens to late twenties (range 14 to 44 years)

•

en:onset in third or fourth decades

•

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

•

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

•

en:onset of fractures in infancy to early childhood

•

en:onset of gait abnormalities at 8 to 40 years

•

en:onset of motor disturbances in childhood

•

en:onset of seizures in first months of life

•

en:onset of skin manifestations from birth to puberty

•

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

•

en:onset of symptoms at 2-4 months

•

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

•

en:onset second decade of life

•

en:onset usually in second decade (may occur earlier)

•

en:overall course less severe compared to patients with cfh (134370) mutations

•

en:poor response to acetylcholinesterase inhibitors or cholinergic agents

•

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

•

en:partial factor viii deficiency in heterozygous carriers

•

en:paternal anticipation bias

•

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

•

en:patients from old order amish community and turkey have been reported

•

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

•

en:patients often require implantation of a pacemaker

•

en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers

•

en:perinatal lethality

•

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

•

en:phenotypic heterogeneity

•

en:phenotypic overlap with parkinson disease

•

en:phenotypic overlap with revesz syndrome (268130)

•

en:polyhydramnios

•

en:death usually in newborn period or infancy

•

en:two consanguineous families with two affected sibs each have been reported (last curated february 2016)

•

en:decrease in frequency and severity of episodes in young adulthood

•

en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members

•

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

•

en:prevalence of 7 in 100,000 live births

•

en:prevalent in bulgarian gypsies

•

en:prevalent in the old order amish in the u.s. and in finland

•

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

•

en:progressive disorder due to secondary myopathy

•

en:rare autosomal dominant inheritance has been reported

•

en:recurrence of symptoms after cholecystectomy

•

en:reduced life expectancy

•

en:reduced penetrance (approximately 87%)

•

en:reported in a large hutterite family

•

en:retinal hemorrhages usually resolve without sequelae

•

en:secondary features include arterial hypertension and renal involvement

•

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

•

en:prevalence in finland is 1 in 25,000

•

en:see also chromosome 2q32-q33 deletion syndrome (612313)

•

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

•

en:see also familial developmental dysphasia (600117)

•

en:see also french-canadian type of leigh syndrome (220111)

•

en:see also glanzmann thrombasthenia due to mutations in integrin alpha 2b (273800)

•

en:see also griscelli syndrome, type 1 (214450) for a similar disorder with characteristic neurologic disease and griscelli syndrome, type 2 (607624) for a similar disorder with characteristic immunodeficiency/hemophagocytic syndrome.

•

en:see also junctional eb with pyloric atresia (226730)

•

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

•

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

•

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

•

en:see recessive form optb4 (611490)

•

en:seizures are responsive to pyridoxine treatment

•

en:seizures tend to occur upon awakening

•

en:severe heat intolerance

•

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

•

en:present at birth

•

en:severity of skin symptoms may vary within families

•

en:patients can have als, ftd, or both

•

en:onset of cardiomyopathy may occur several months after birth

•

en:onset of choroideremia in second to third decade

•

en:onset of disease in fourth or fifth decade of life

•

en:onset of hearing loss in first decade of life

•

en:onset of hearing loss in late childhood

•

en:onset of muscle weakness around age 5 years

•

en:onset of symptoms age 5-30

•

en:onset of symptoms in childhood

•

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

•

en:onset of symptoms usually in adulthood

•

en:onset ranges from childhood to adulthood

•

en:pain is relieved by antiinflammatory medication

•

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

•

en:patients are susceptible to sepsis and dehydration

•

en:patients exhibit no signs of ocular or cutaneous albinism

•

en:prenatal diagnosis available

•

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

•

en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root

•

en:patients may become totally dependent for all activities of daily living

•

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

•

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

•

en:patients with later onset do not have dysmorphic features

•

en:patients with t2 deficiency and urinary abnormalities may be asymptomatic

•

en:peak age of onset in second decade

•

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

•

en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress

•

en:phenotype may be exacerbated by maltreatment in childhood

•

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

•

en:phenotypic overlap with noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150)

•

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

•

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

•

en:similar disorder to x-linked pelizaeus-merzbacher disease (pmd, 312080)

•

en:onset may also occur in early infancy, adolescence, or adulthood

•

en:variable age at onset, range from infancy to adulthood

•

en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2)

•

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

•

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

•

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

•

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

•

en:two unrelated families have been reported to have hpca mutations

•

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

•

en:two unrelated patients with epileptic encephalopathy have been reported

•

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

•

en:uncommon disorder

•

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

•

en:usually fatal within the first few weeks of life

•

en:variable age at onset, early childhood to adult

•

en:variable age at onset (range 8 to 60 years, mean 32)

•

en:two pakistani families reported (last curated july 2014)

•

en:variable age at onset (range birth to teenage years)

•

en:variable age of onset of renal manifestations

•

en:variable cardiac phenotype

•

en:variable expression

•

en:variable extraneurologic features

•

en:variable features present

•

en:variable infectious phenotype

•

en:variable locations

•

en:variable neuroradiologic findings

•

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

•

en:variable severity, correlates with age at onset

•

en:wasting of hands often occurs first

•

en:worldwide frequency of 1 in 100,000 infants

•

en:mental retardation, autosomal recessive 52

•

en:two sibs died before 2 years of age

•

en:two of 3 patients became wheelchair-bound

•

en:skin erythroderma may resolve early, leaving atrophic lesions

•

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

•

en:skin manifestation less frequently observed in cold climates

•

en:somatic mosaicism has been observed in some patients

•

en:some females have only deafness and ovarian dysgenesis without neurologic abnormalities

•

en:some patients experience later reversal of hypogonadotropic hypogonadism

•

en:some patients may be asymptomatic

•

en:some patients may show deterioration with infections

•

en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features

•

en:spontaneous resorption (rare)

•

en:sudden death due to cardiomyopathy

•

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

•

en:symptoms improve with age, resulting in woolly hair with almost normal hair density

•

en:symptoms noted at 2-3 years

•

en:symptoms often improve gradually with age

•

en:symptoms precipitated by sudden movement, stress, exertion, fatigue, illness

•

en:symptoms usually induced only by strenuous exercise

•

en:two loci control synthesis of c4, c4a (120810) and c4b (120820)

•

en:symptoms usually resolve without treatment

•

en:there are several subtypes

•

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

•

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

•

en:three families have been reported (as of 28 june 2011)

•

en:three major clinical forms are apparent

•

en:three patients have been described (last curated january 2013)

•

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

•

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

•

en:treatment with sulfonylurea can be effective

•

en:two adult sibs have been reported (last curated february 2016)

•

en:two arab muslim families have been reported (last curated october 2012)

•

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

•

en:two families reported (last curated september 2012)

•

en:onset of bleeding in infancy or early childhood

•

en:onset in utero or in infancy

•

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

•

en:incomplete penetrance, some individuals have only emg changes without other clinical signs

•

en:genetic heterogeneity (see cmtdia 606483)

•

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

•

en:genetic heterogeneity (see madb, 608612)

•

en:genetic heterogeneity (see mcc2 deficiency 210210)

•

en:genetic heterogeneity (see sca1, 164000)

•

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

•

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

•

en:heterozygous mutation carriers may have late-onset cardiac arrhythmias

•

en:heterozygous mutation present in 5-7% of the japanese population

•

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

•

en:highly variable phenotype and severity

•

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

•

en:incidence of 1 in 20,000 live births

•

en:incomplete penetrance in some families

•

en:genetic heterogeneity (see 608638)

•

en:increased rate of miscarriage in affected individuals

•

en:increased spontaneous abortions in carrier mothers

•

en:increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza)

•

en:infantile onset with hepatic involvement

•

en:infants are stillborn or die shortly after birth

•

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

•

en:intermittent pyrexia

•

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

•

en:late-adult onset has been reported

•

en:later childhood onset has been reported

•

en:later onset has been reported (third or fourth decades)

•

en:lethal in males

•

en:life-threatening infections

•

en:limb malformations are variable

•

en:genetic heterogeneity (see cmt4b1, 601382)

•

en:genetic heterogeneity (see 259700)

•

en:majority are isolated cases

•

en:favorable initial response to l-dopa

•

en:diabetes and anemia respond to high doses of thiamine supplementation

•

en:disorder may progress to involve a larger body area

•

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

•

en:distinct disorder from transient neonatal hyperthyroidism due to maternal graves disease (see 275000)

•

en:dysmorphic facial features are subtle

•

en:dystonia and seizures may persist after resolution of episodes

•

•

en:episodes are followed by exhaustion and sleep

•

en:episodes usually last 1 to 2 days

•

en:erythema often triggered by sudden temperature change or emotional stress

•

en:exacerbation during febrile episodes

•

en:extrapyramidal signs show a favorable response to levodopa

•

en:facial appearance becomes more apparent with age

•

en:facial palsy often transient in infancy

•

en:favorable response to immunotherapy

•

en:genetic heterogeneity (see, e.g., atfb3, 607554)

•

en:favorable response to oral bile acid therapy

•

en:features of pseudoxanthoma elasticum seen in later childhood in some surviving patients

•

en:febrile attacks disappear in adulthood in some patients

•

en:females tend to have earlier onset

•

en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only

•

en:female carriers may show some manifestations, such as hearing impairment

•

en:few patients with mild to moderate mental retardation

•

en:fifty percent of cases are sporadic

•

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

•

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

•

en:frequency between 1 in 58,000 to 1 in 1,000,000

•

en:frequency of episodes ranges from several per week to several per year

•

en:genetic heterogeneity, see evr1 (133780)

•

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

•

en:limited clinical information provided on patients with bbs7 mutations

•

en:majority die in neonatal period secondary to respiratory insufficiency

•

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

•

en:onset as neonate

•

en:occurs in the absence of trauma

•

en:occurs most often in developing countries in tropical regions

•

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

•

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

•

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

•

en:one family described (last curated october 2013)

•

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

•

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

•

en:one patient was asymptomatic and detected by neonatal screening

•

en:one report of a large italian family from sardinia (last curated december 2015)

•

en:onset 5-30 years

•

en:onset ages 2 to 14 years

•

en:onset age 2 to 7 years

•

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

•

en:onset before age 20

•

en:no response to phenobarbital

•

en:onset between 2 and 4 years of age

•

en:onset between ages 10 and 25 years

•

en:onset in childhood (range 1 to 9 years)

•

en:onset in females ranges from third to seventh decade

•

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

•

en:onset in first month of life

•

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

•

en:onset in infancy, but may not be diagnosed until later in mild cases

•

en:onset in infancy or late childhood

•

en:onset in late childhood or adulthood

•

en:onset in late infancy

•

en:onset in late teens to twenties

•

en:onset in second decade, but sometimes earlier

•

en:onset in second to third decades (postlingual)

•

en:occasional late-onset of symptoms with homozygosity (e.g. 612283.0005 protein c deficiency, homozygous)

•

en:no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene

•

en:majority of cases (95%) are sporadic

•

en:more common in men than women

•

en:majority of cases are male

•

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

•

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

•

en:major cause of death is heart failure

•

en:manifestations of cushing syndrome may be mild

•

en:many patients die by 1-3 years of age

•

en:may coexist with autoimmune vitiligo or thyroiditis

•

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

•

en:mean age at resolution of symptoms 10 years

•

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

•

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

•

en:minimum duplication includes bhlha9 (615416)

•

en:mliii is a heterogeneous disorder

•

en:more common in males

•

en:more common in women (90%)

•

en:no consistent disease phenotype

•

en:mortality, premature

•

en:mosaic distribution of lesions

•

en:most cases (98%) caused by expanded trinucleotide repeat (cgg)n in the fmr1 gene (309550.0004)

•

en:most patients are from finland

•

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

•

en:mutation found in 1 puerto rican family (last curated august 2014)

•

en:myoclonus is presenting symptom

•

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

•

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:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats

•

en:normal birth (finding)

•

en:normal sweat electrolytes

•

en:not all patients have skeletal muscle symptoms or mental retardation

•

en:no abnormalities of skin, hair, teeth, or bones

•

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

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9090971 • caches: c1=8 c2=1003 c3=1

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]

A propos

Champs masqués

2.7 s