Le Diko - en:may result in early death from severe diarrhea

waiting

Le Diko - en:may result in early death from severe diarrhea

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

le dictionnaire d'associations lexicales
contributif et libre de JeuxDeMots

(id=6946997)

en:may result in early death from severe diarrhea

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:variable severity, ranging from central severe to peripheral to transient

•

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

•

en:two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014)

•

en:seizure onset in first months or years of life

•

en:prevalence of true hypoprothrombinemia is 1 in 2 million

•

en:onset of skin lesions at birth

•

en:median age at onset 23 years

•

en:marked phenotypic variability

•

en:later onset of hearing loss in some patients

•

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

•

en:heterozygotes exhibit blue sclerae and soft velvety skin

•

en:group a, found in north american indians, has lactic acidosis and psychomotor retardation

•

en:genetic heterogeneity (see fhm1 141500 and mgr6 607516)

•

en:genetic heterogeneity (see antenatal bartter syndrome type 1, 601678)

•

en:four families have been reported (last curated october 2012)

•

en:distribution of involvement is variable and may include craniofacial, thoracic, abdominal, and extremity structures

•

en:deposits may recur in graft after corneal transplantation

•

en:considered to be a severe form of gaucher disease type ii (230900)

•

en:chimeric cyp11b1/cyp11b2 gene is an anti-lepore-like fusion product

•

en:based on 1 5-generation family (last curated january 2015)

•

en:associated with myoclonic epilepsy

•

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

•

en:allelic to noonan syndrome (163950)

•

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

•

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

•

en:age-dependent penetrance

•

en:1 in 17,000 in china

•

en:14% of patients survive with polyhydramnios

•

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

•

en:zinc deficiency in breastfed offspring resolves after weaning

•

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

•

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

•

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

•

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

•

en:spontaneous resolution usually after 12 months of age

•

en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood

•

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

•

en:phenotypic heterogeneity

•

en:onset of diabetes in neonatal period/ early infancy

•

en:one patient reported (last curated november 2013)

•

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

•

en:mean age at onset 5 years

•

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

•

en:lymphedema that presents at puberty is called meige disease (153200)

•

en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes

•

en:genetic heterogeneity (see 209850)

•

en:genetic anticipation has been observed

•

en:episodes may be precipitated by fear, unexpected noises, emotional responses, movement

•

en:contractures most severe by midadolescence

•

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

•

en:associated with malignant hyperthermia (mhs, 145600)

•

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

•

en:usually poor response to steroid treatment

•

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

•

en:twenty-five percent of affected babies are stillborn

•

en:some patients can be treated with large doses of vitamin d and calcium

•

en:serum triglycerides decrease with age

•

en:seizures remit by age 5 years

•

en:seizures precipitated by fatigue or alcohol

•

en:see also autosomal recessive form (612304)

•

en:resembles pseudo-torch syndrome (251290)

•

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

•

en:presentation at 3-6 weeks of age

•

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

•

en:onset at 6-9 months

•

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

•

en:narcolepsy and deafness are the first symptoms

•

en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported

•

en:median age at diagnosis, 59 years

•

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

•

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

•

en:incidence of 1 in 3,500 boys

•

en:hearing loss affects all frequencies

•

en:five reported patients, all boys (as of july 2009)

•

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

•

en:facial dysmorphic features are mild

•

en:death in childhood often results from respiratory insufficiency

•

en:brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri

•

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

•

en:age at diagnosis 26 +/- 14 years for recessive disease

•

en:affects up to 10% of the population

•

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

•

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

•

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

•

en:slight male predominance (3:2)

•

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

•

en:relatively benign course

•

en:prevalence 1 in 1,250

•

en:onset of symptoms in first or second decade of life

•

en:onset of symptoms 2-4 weeks of age

•

en:onset of gaze palsy at birth

•

en:onset in early infancy (2 to 3 months of age)

•

en:onset in early childhood after initial normal development

•

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

•

en:one family with confirmed genetic basis has been reported (last curated september 2013)

•

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

•

en:neuromuscular, cardiovascular, and infectious symptoms improve with age

•

en:more common in females

•

en:majority are isolated cases

•

en:levodopa-induced dyskinesias

•

en:intrafamilial variability in severity

•

en:infantile form accounts for 90% of cases

•

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

•

en:fetal death usually occurs

•

•

en:dysmorphic facial features may not be present

•

en:children rarely develop the disorder

•

en:based on 2 patients from 1 consanguineous lebanese family (as of april 2010)

•

en:acute neurologic deterioration after viral illness has been reported

•

en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:variable presentation

•

en:variable age at onset

•

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

•

en:stable or slowly progressive course

•

en:prevalence of 0.6 to 10 per 100,000 individuals

•

en:patients are often of mediterranean origin

•

en:onset of lipodystrophy later in childhood

•

en:one turkish girl has been reported (last curated april 2013)

•

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

•

en:mean age of onset 20.6 years

•

en:increased prevalence in individuals of jewish-iraqi origin

•

en:increased frequency in the dariusleut hutterites (canada)

•

en:incomplete penetrance with 45 to 51 repeats

•

en:heterozygotes have mild, transient hypothyroidism in infancy

•

en:genetic heterogeneity, see lgmd2a (253600)

•

en:episode, syncopal

•

en:earlier onset is associated with more rapid progression

•

en:complete penetrance

•

en:childhood onset may occur

•

en:both heterozygous and homozygous pax3 mutations have been found

•

en:associated with untreated phenylketonuria (261600)

•

en:approximately 80% of cs patients have pten mutations

•

en:aggressive malignancies

•

en:about 50% of mutation carriers are asymptomatic

•

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

•

en:variable age at onset (childhood to adulthood)

•

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

•

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

•

en:the relationship of central core disease to moderate multiminicore with hand involvement is unclear, for a description of classic multiminicore disease, see 602771

•

en:see also febrile seizures (feb1, 121210)

•

en:risk of sudden death with exertion

•

en:relapsing-remitting course

•

en:progressive disorder, usually with rapid, relentless course

•

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

•

en:nyctalopia is a later feature of the disorder

•

en:intrafamilial variability

•

en:increased bleeding after surgery

•

en:high frequency seizures

•

en:favorable response to intermittent, low-dose steroid therapy

•

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

•

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

•

en:associated with idiopathic generalized epilepsy (ige, 600669)

•

en:allelic disorder to split-hand/foot malformation 4 (shfm4, 605289)

•

en:age of onset within the first years of life

•

en:age at onset 14 to 44 years

•

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

•

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

•

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

•

en:see also autosomal dominant form (128230)

•

en:see 123000 for an autosomal dominant form due to mutation in ankh (605145)

•

en:response to benadryl (diphenhydramine)

•

en:persistent bleeding after injury or surgery

•

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

•

en:one family reported (as of may 2012)

•

en:occasionally low-dose insulin required

•

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

•

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

•

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

•

en:infants are stillborn or die shortly after birth

•

en:improvement of abnormal muscle biopsy and cox deficiency

•

en:hyperlipidemia may be partially responsive to fat-restricted diet

•

en:genetic heterogeneity (see cms1a1, 605809)

•

en:genetic anticipation associated with progressive telomere shortening

•

en:frequency of infections decreases after 3 years of age

•

en:episodes are triggered by cold exposure

•

en:described predominantly in families from the philippines

•

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

•

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

•

en:allelic to osteopetrosis (259700)

•

en:two brothers have been reported (last curated august 2012)

•

en:some phenotypic overlap with rett syndrome (312750)

•

en:prevalence of 1 in 10,000 caucasians

•

en:percentages based on review of 51 published cases (pmid 24891339)

•

en:oral supplementation with ubiquinone does not result in major clinical improvement

•

en:onset of neurologic features is variable, even within the same family (range early childhood to adult)

•

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

•

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

•

en:most patients retain ambulation with aids

•

en:males carry mutations in the somatic mosaic state

•

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

•

en:intermittent pyrexia

•

en:increased prevalence in individuals of turkish descent

•

en:incidence 1 in 20,000

•

en:heterozygous mutations reported, see 606609.0006 and 606609.0007

•

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

•

en:genetic heterogeneity of axonal cmt (see cmt2a 118210)

•

en:genetic heterogeneity

•

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

•

en:child often can sit unsupported but never ambulates

•

en:bullae are located randomly in familial cases and apical in sporadic cases

•

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

•

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

•

en:usually occurs in young adulthood

•

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

•

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

•

en:some patients show improvement during summer or with fever

•

en:some patients may have isolated myokymia

•

en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+)

•

en:six patients reported (last curated march 2015)

•

en:risk of sudden death due to cardiac arrhythmias

•

en:prevalence of approximately 1 in 2000 individuals

•

en:prevalence of 1 in 7,900 in cameroon

•

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

•

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

•

en:onset of seizures ranges from 2 to 11 years

•

en:onset between birth and 3 months of age

•

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

•

en:normal growth and development after 1 year of age

•

en:multiple gene loci involved in causation of schizophrenia

•

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

•

en:lethal in 40% of patients

•

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

•

en:genetic heterogeneity (see 259700)

•

en:familial occurrence is rare

•

en:dyskinesia may occur in homozygotes (1 reported case)

•

en:cheerful disposition

•

en:can be asymptomatic

•

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

•

en:a subset of patients improve with thiamine

•

en:apparent at birth

•

en:abnormal transferrin pattern tends to improve with age

•

en:miscellaneous

•

en:visual and hearing loss are slowly progressive

•

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

•

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

•

en:onset of joint contractures later in life

•

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

•

en:only apparent in patients taking eculizumab

•

en:no abdominal symptoms or neurologic symptoms in harderoporphyria

•

en:mother had rubella infection during pregnancy with daughter

•

en:mild manifestations in carrier females (cleft lip, cleft tongue)

•

en:maternal anticipation bias

•

en:itch, pain, and body malodor often

•

en:increased frequency in finland (incidence 1:60,000 finnish newborns)

•

en:incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtdna mutation develop the optic neuropathy

•

en:high prevalence in the east asian population

•

en:genetic heterogeneity (see cmt2a 118210)

•

en:favorable response to l-dopa treatment

•

en:dopa-unresponsive

•

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

•

en:death often secondary to pneumonia or congestive heart failure

•

en:death often occurs in the first decade

•

en:arrhythmias detected prenatally (in some patients)

•

en:two peaks of onset, childhood and adult

•

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

•

en:survival to 20 years in severe form

•

en:severe incapacitation in 10-20 years

•

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

•

en:prevalence of 1 in 300,000 in quebec

•

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

•

en:onset usually in early adolescence

•

en:onset in adolescence or adulthood has been reported

•

en:onset about 6 months of age after normal growth and development in the first few months of life

•

en:one-third of cases are familial

•

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

•

en:mental development worsens after onset of seizures

•

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

•

en:mean age of diagnosis 40 years

•

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

•

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

•

en:infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia)

•

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

•

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

•

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

•

en:has been described in patients of caucasus jewish origin

•

en:genetic heterogeneity (see, e.g., sli1 606711 and sli3 607134)

•

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

•

en:de novo mutation identified in some patients

•

en:death in utero or as neonate

•

en:death in infancy common for patients with the classic neonatal form

•

en:clinically mimics congenital torch infections (see 251290)

•

en:autosomal recessive inheritance can occur

•

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

•

en:associated with deletion at chromosome 2q37

•

en:allelic to atelosteogenesis, type ii (256050), achondrogenesis, type ib (600972), and multiple epiphyseal dysplasia, type 4 (226900)

•

en:age of onset 5 to 19 years

•

en:adults may be asymptomatic

•

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

•

en:service comment 24:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:gestational age:time:pt:^fetus:qn:amniocentesis

•

en:variable cardiac defects

•

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

•

en:some patients with onset of severe disease in infancy are diagnosed with leber congenital amaurosis, whereas other patients with childhood onset of less severe retinal dystrophy are diagnosed with retinitis pigmentosa

•

en:seizures recur in 33% of patients

•

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

•

en:prevalence of 1 in 2,833 in zimbabwe

•

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

•

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

•

en:most common inherited ataxia

•

en:incidence of 1/50,000 births

•

en:incidence in japan is 1 in 57,000

•

en:generally mild phenotype

•

en:extreme phenotypic variability

•

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

•

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

•

en:carrier females may present with postpartum hyperammonemia

•

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

•

en:allelic to metaphyseal dysplasia without hypotrichosis (250460)

•

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

•

en:allelic disorder to charcot-marie-tooth disease type 1a (118220)

•

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

•

en:x-linked recessive cytochrome b-negative cgd

•

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

•

en:tooth agenesis ranges from 1 missing tooth to marked oligodontia

•

en:symptoms worsen with fatigue and exercise

•

en:subclavian artery supply disruption in embryogenesis has been suggested as etiology

•

en:some patients show a favorable response to sulfonylurea treatment

•

en:significant clinical overlap with sotos syndrome (117550)

•

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

•

en:reported in 2 sibs (february 1991)

•

en:phenotypic overlap with desbuquois dysplasia (251450)

•

en:patients with later onset have better prognosis

•

en:patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems

•

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

•

en:onset of hearing loss prior to or during adolescence

•

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

•

en:onset in the sixth or seventh decades

•

en:no preceding skin inflammatory stage

•

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

•

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

•

en:incidence of 1/100,000 in italy and finland

•

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

•

en:genetic heterogeneity (see npc2, 607625)

•

en:favorable response to alcohol

•

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

•

•

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

•

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

•

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

•

en:based on one finnish family

•

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

•

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

•

en:allelic disorder to autosomal recessive deafness 21 (dfnb21, 603629)

•

en:variable response to vitamin b12 therapy

•

en:variable age at onset (birth to adult)

•

en:type 2a is characterized by deficiency of high molecular weight monomers

•

en:toe-walking gait

•

en:slow progression

•

en:recurrence is possible

•

en:prognosis good

•

en:preferably treated with iodine supplementation rather than thyroid hormone replacement

•

en:precipitated by infection, fasting, or intercurrent illness

•

en:patients may present with recurrent illnesses or infections, or shock

•

en:onset in adolescence or adulthood

•

en:onset before age 40 years

•

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

•

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

•

en:more common in men than women

•

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

•

en:limited clinical information provided on patients with bbs7 mutations

•

en:later onset has been rarely reported (up to age 68 years)

•

en:infants occasionally mistaken as having down syndrome

•

en:infants may die from apnea or aspiration

•

en:genetic heterogeneity (see edm1 132400, edm3 600969, edm4 226900, edm5 607078)

•

en:features usually appear during adulthood

•

en:elevated body temperatures to 42 degrees celsius

•

en:decreased bilirubin concentration with phenobarbital administration

•

en:death usually occurs by age 2 years

•

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

•

en:based on 2 siblings in 1 family (last curated september 2012)

•

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

•

en:approximately 10% of als cases are familial

•

en:alpha thalassemia-mental retardation syndrome

•

en:allelic to osmed (215150) and weissenbacher-zweymuller syndrome (277610)

•

en:adult onset (40 to 60 years old)

•

en:about 8% of female mutation carriers develop dilated cardiomyopathy

•

en:usually fatal within the first few weeks of life

•

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

•

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

•

en:skin erythroderma may resolve early, leaving atrophic lesions

•

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

•

en:rapid disease progression

•

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

•

en:onset of bleeding symptoms in childhood or young adulthood

•

en:one large family has been reported (last curated january 2015)

•

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

•

•

en:motor fluctuations

•

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

•

en:juvenile absence epilepsy (jae, 607631)

•

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

•

en:icelandic families

•

en:genetic heterogeneity, see spg3a (182600)

•

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

•

en:dramatic improvement with proper treatment

•

en:clinical manifestation of some forms of bardet-biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus, or triallelic inheritance

•

en:based on 4 patients in one family

•

en:allelic to deafness, neurosensory, autosomal recessive 18 (602092)

•

en:age of onset of upper limb involvement 10-43 years

•

en:service comment 58:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:variable severity, some patients have a protracted course with little neurologic involvement

•

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

•

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

•

en:some patients have juvenile-onset myoclonic epilepsy

•

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

•

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

•

en:relief is achieved by cooling or by elevating the extremities

•

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

•

en:patients with mutations in the chrne gene have a milder phenotype because fetal chrng (100730) exhibits phenotypic rescue

•

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

•

en:pathogenic alleles have 19 to 33 repeats

•

en:onset may be prelingual or in childhood

•

en:onset in first decade (average 5 years)

•

en:onset in childhood or as young adult

•

en:onset before age 20

•

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

•

en:neonatal onset

•

en:mildly progressive

•

en:maternal oligohydramnios

•

en:incidence of 1% in yarmouth county, nova scotia

•

en:homozygous 9-snp haplotype in the promoter and coding region of malic enzyme 2 (me2, 154270.0001) increases risk for ige (odds ratio 6.1 with 95% confidence interval 2.9-12.7)

•

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

•

en:high risk of death in infancy due to cardiac failure

•

en:genetic heterogeneity (see cmt4b2, 604563)

•

en:four cases have been reported, all female

•

en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300)

•

en:disorder may progress to involve a larger body area

•

en:crisis precipitated by high altitude exposure

•

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

•

en:allelic to pseudoachondroplasia (177170)

•

en:affected males have serotonin-related disorders such as migraine headaches and diabetes

•

en:x-linked inheritance could not be ruled out

•

en:vhl type 2a - hemangioblastoma and pheochromocytoma

•

en:venous malformations previously referred to as angiomas or hemangiomas

•

en:variable progression rate

•

en:variable phenotype within families ranging from woolly hair to hypotrichosis

•

en:variable phenotype and severity

•

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

•

en:variable expressivity within a family

•

en:variable expressivity in families

•

en:variable expression and severity

•

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

•

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

•

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

•

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

•

en:upper limb involvement in first decade

•

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

•

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

•

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 january 2015)

•

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

•

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

•

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

•

en:two patients without cardiomyopathy or cataracts have been reported

•

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

•

en:two of 3 patients became wheelchair-bound

•

en:two main phenotypes, severe and mild

•

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

•

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

•

en:two families reported with 2 sibs each (last curated october 2012)

•

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

•

en:two consanguineous turkish families have been reported (as of august 2011)

•

en:two chinese sisters and one chinese woman have been described (last curated april 2014)

•

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

•

en:tumors usually develop between 40 and 60 years of age

•

en:triggers are variable, even within a family

•

en:tremor is aggravated by low glucose or light

•

en:tremors develop after seizures

•

en:treatment with serine and glycine replacement may alleviate features if started at birth

•

en:treatment with betaine, especially for pyridoxine nonresponders

•

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

•

en:three types of cystinosis are recognized

•

en:three patients from 1 french canadian family have been reported (last curated november 2014)

•

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

•

en:the mttl1 c.3243a-g transition (590050.0001) is the most common mutation

•

en:telangiectases persist in adulthood

•

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

•

en:systemic granulomatous disease

•

en:symptom onset ranges from infancy to adulthood

•

en:symptoms usually appear in adulthood

•

en:symptoms improve during the summer

•

en:symptoms are responsive to cobalamin treatment

•

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

•

en:survivors develop dysautonomia-like symptoms

•

en:sudden death in affected males occurs in teens

•

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

•

en:spontaneous resorption (rare)

•

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

•

en:some patients show onset later in childhood

•

en:some patients show infantile onset

•

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

•

en:some patients may not achieve walking

•

en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features

•

en:solitary disease is more common in males

•

en:slow, progressive growth, then stable

•

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

•

en:seizures may be refractory

•

en:seizures are refractory

•

en:seizures are poorly responsive to treatment

•

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

•

en:see also an adult-onset form (213600)

•

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

•

en:see 255160 for an autosomal recessive form

•

en:see (277600) for a phenotypically similar autosomal recessive form

•

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

•

en:risk factors for development of tgct - family history, cryptorchidism (219050), testicular feminization (300068), klinefelter syndrome, previous tgct, gonadal dysgenesis

•

en:reduced exercise tolerance

•

en:rarely produces clinical jaundice

•

en:rapid progression in adolescence

•

en:pyogenic arthritis, pyoderma gangrenosum and acne

•

en:ptosis is usually presenting feature

•

en:progressive degenerative hip disease requiring replacement in 2nd to 4th decade

•

en:progressive, with full manifestations at puberty

•

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

•

en:prevalence of 1 in 240 zuni indians

•

en:prevalence of 1 in 1,429 in tanzania

•

en:prevalence 1 in 8000

•

en:present in infancy in all affected individuals

•

en:presence of additional features is variable

•

en:prenatal or perinatal death

•

en:physical features are apparent at birth

•

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

•

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

•

en:phenotype combines features of hirschsprung disease (142623), charcot-marie-tooth disease type 1 (cmt1b, 118200), waardenburg-shah syndrome (277580), and central dysmyelinating leukodystrophy (312080)

•

en:perinatal lethal

•

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

•

en:patients with variant cjd are homozygous for met129 polymorphism (176640.0005)

•

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

•

en:patients with glaucoma have nonsense or truncating sbf2 mutations (607697.0002)

•

en:patients may show normal development

•

en:patients have a distinctive shallow u-shaped audiogram

•

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:otopalatodigital syndrome type ii (opd2, 304120) is an allelic disorder

•

en:onset ranges from 2 days to 7 months (most at 2-3 months)

•

en:onset of symptoms in second decade of life

•

en:onset of osteoarthritis in teens to early adulthood

•

en:onset of hand involvement at 14 to 60 years

•

en:onset of fracture usually when child begins to walk

•

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

•

en:onset of dystonia at 12 years

•

en:onset of disease 7 months to 3 years

•

en:onset of choroideremia in second to third decade

•

en:onset of bone fragility in childhood

•

en:onset in infancy or late childhood

•

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

•

en:onset in infancy or early childhood

•

en:onset in infancy or at birth

•

en:onset in infancy (3 to 7 months)

•

en:onset in fourth decade

•

en:onset in first decades (males)

•

en:onset in first 2 decades of life

•

en:onset in feet and legs (peroneal distribution)

•

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

•

en:onset in early childhood (infancy to 5 years)

•

en:onset in childhood or adolescence

•

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

•

en:onset in childhood (ages 1.5 to 7 years)

•

en:onset in childhood (5 to 10 years)

•

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

•

en:onset by age 2 years

•

en:onset between ages 10 and 25 years

•

en:onset between 1-3 years

•

en:onset 13-15 years

•

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

•

en:one patient has been reported (as of july 2010)

•

en:one patient has been reported

•

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

•

en:one family reported (last curated june 2009)

•

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

•

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

•

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

•

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

•

en:one consanguineous pakistani family reported (last curated august 2013)

•

en:often diagnosed between ages 3-4 months

•

en:odor of 'sweaty feet'

•

en:occurs most often among black africans

•

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

•

en:not responsive to biotin treatment

•

en:normal alleles contain 15 to 50 repeats

•

en:new skin lesions stop appearing before adolescence

•

en:neurologic symptoms may occur after trauma

•

en:neurologic dysfunction is infrequent and associated with delayed diagnosis

•

en:neuroendocrine recovery occurs in some patients

•

en:neonatal/infantile death in most patients

•

en:motor symptoms are variable

•

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

•

en:more frequent in males

•

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

•

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

•

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

•

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

•

en:mean age at onset 28 years

•

en:may regress in adulthood

•

en:may be fatal

•

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

•

en:maternal breast milk is protective

•

en:many patients recover normally

•

en:male to female ratio 7:1

•

en:male to female ratio 21:8

•

en:males mores severely affected than females

•

en:majority are sporadic cases, affected sibs have been described

•

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

•

en:lymphedema resolves by age 3 years

•

en:lmd is the homozygous form of the less severe leri-weill dyschondrosteosis (127300)

•

en:liveborn often die within first week of life

•

en:lifetime risk of breast cancer in mutation carriers is 80 to 90%

•

en:lifetime risk of breast cancer in male mutation carriers in 6%

•

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

•

en:lesions grow and spread with age

•

en:later onset in females

•

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

•

en:late-adult onset (usually after age 50 years)

•

en:intrafamilial variability in nail changes

•

en:increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii

•

en:incidence of all forms of cjd is 0.5 to 1.5 per million per year

•

en:incidence of 1 in 39,000

•

en:incidence of 1 in 300,000

•

en:incidence of 0.51 per million in france

•

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

•

en:high recurrence rate

•

en:high incidence of e. coli sepsis in untreated neonates

•

en:highly penetrant, but low morbidity

•

en:hhs is a more severe variant, often resulting in death in childhood

•

en:headache duration 4-72 hours

•

en:hand involvement improves with age

•

en:good response to medication

•

en:gonadal and somatic mosaicism reported in parent

•

en:genetic heterogeneity (see madb, 608612)

•

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

•

en:genetic heterogeneity (see bscl2, 269700)

•

en:genetic heterogeneity (see 604559)

•

en:genetic heterogeneity (see 161400)

•

en:genetic heterogeneity, see fhm1, (141500) and mgr1, (157300)

•

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

•

en:frequent new mutations (~60%) and/or gonadal mosaicism in tsc2

•

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

•

en:fractures often heal without deformity

•

en:four unrelated families of caucasian european descent have been reported (last curated february 2015)

•

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

•

en:found predominantly in the amish population

•

en:food intolerance

•

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

•

en:female to male ratio 5:1

•

en:febrile attacks disappear in adulthood in some patients

•

en:favorable response to ursodeoxycholic acid treatment

•

en:favorable response to treatment with minocycline or azithromycin

•

en:favorable response to immunotherapy

•

en:fatal multiorgan failure due to severe inflammatory response in some patients

•

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

•

en:facial dysmorphism is age-related and alters substantially over time

•

en:excessive postsurgical blood loss

•

en:estimated carrier frequency in charlevoix-saguenay region is 1/22

•

en:endocrine abnormalities confined to kidney

•

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

•

en:early onset, between 35-60 years

•

en:early diagnosis and treatment prevent many complications

•

en:early death in males

•

en:early death due to sepsis

•

en:dysmorphic facial features reported in 1 family

•

en:distinctive and stereotyped sequence of events

•

en:disorder usually remains stable over time

•

en:diagnosed in second or third decade of life

•

en:de novo mutation

•

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

•

en:death within first year of life

•

en:death within first decade

•

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

•

en:death may occur in childhood due to respiratory failure

•

en:death in the first years of life

•

en:death in majority of infants soon after birth

•

en:death in infancy, usually from sepsis, dehydration, or acidosis

•

en:death by age 15 months

•

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

•

en:cutaneous symptoms induced by cold exposure or cooling

•

en:currarino triad includes - hemisacrum, presacral mass (anterior meningocele, enteric cyst, and/or presacral teratoma) and anorectal anomalies

•

en:contiguous gene deletion syndrome

•

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

•

en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis

•

en:chronic, relapsing condition

•

en:childhood or young adult onset

•

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

•

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

•

en:breech presentation

•

en:blindness episodes are not associated with fhm episodes

•

en:based on report of 2 sibs in 2008

•

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

•

en:average age of onset 13 years

•

en:average age at onset 19 years (range 5 to 38)

•

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

•

en:autosomal recessive inheritance has been reported in 1 family

•

en:autosomal recessive inheritance has been described in 2 families

•

en:autosomal dominant inheritance has been reported

•

en:at birth, there is generalized red scaly skin

•

en:approximately 12 patients have been reported (as of march 2010)

•

en:antenatal onset

•

en:anemia may show onset in infancy

•

en:all reported mutations have occurred de novo

•

en:all cases occur in a jewish religious isolate originally from cochin, india

•

en:allelic with retinitis pigmentosa 35 (610282)

•

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

•

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

•

en:allelic to hand osteoarthritis (607850)

•

en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and familial cylindromatosis (fc, 132700)

•

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

•

en:allelic disorder to episodic ataxia-2 (ea2, 108500) and spinocerebellar ataxia-6 (sca6, 183086)

•

en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800)

•

en:allelic disorder to charcot-marie-tooth disease type 2a2 (cmt2a2, 609260)

•

en:allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (dfna11, 601317) and usher syndrome type ib (276900)

•

en:allelic corneal dystrophy groenow type (121900), thiel-behnke type (602082), lattice type i (122200), avellino type (607541), reis-bucklers type (608470) and epithelial basement membrane (121820)

•

en:age of onset between 20 to 30 years

•

en:age of onset 20-65 years

•

en:age of onset - birth to 15 months

•

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

•

en:affected males have onset of poor vision before the age of 2 years

•

en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis

•

en:adult onset has been rarely reported

•

en:adult onset (range 34 to 66 years)

•

en:adult onset (45 to 76 years)

•

en:adult form is asymptomatic

•

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

•

en:accounts for 5 to 7% of all cases of congenital adrenal hyperplasia

•

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

•

en:absence of premature birth, low birthweight, and exposure to oxygen

•

en:about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis

•

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

•

en:1 in 50,000 in korea

•

en:12% due to epimutation

•

en:'variant 2' has isolated methylmalonicaciduria and decreased adocbl

•

en:'second wind' phenomenon

•

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

•

en:service comment 48:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:service comment 02:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

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

•

en:wide phenotypic variability and severity

•

en:variable severity of brain malformations

•

en:variable phenotype depending on residual enzyme activity

•

en:variable manifestations

•

en:variable infectious phenotype

•

en:variable features present

•

en:variable extraneurologic features

•

en:variable expression in females otopalatodigital syndrome type i (opd1, 311300) is an allelic disorder

•

en:variable clinical severity

•

en:variable clinical features

•

en:variable age of onset (infancy to 63 years)

•

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

•

en:variable age at onset from childhood to adulthood

•

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

•

en:variable age at onset (range infancy to 30 years)

•

en:variable age at onset (range 25 to 78 years)

•

en:variable age at onset, infancy to adulthood

•

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

•

en:user syndrome type ii (congenital moderate-severe deafness, normal vestibular dysfunction, and onset of retinitis pigmentosa in late second to early third decade) - 3 loci

•

en:type i patients have undetectable aprt activity and are homozygous or compound heterozygous for null alleles

•

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

•

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

•

en:type 2n is characterized by decreased binding affinity for factor viii

•

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

•

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

•

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

•

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

•

en:two sibs have been reported (last curated may 2013)

•

en:two sibs born of consanguineous moroccan parents have been reported (last curated may 2012)

•

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

•

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

•

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

•

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

•

en:two families have been reported (last curated january 2011)

•

en:two consanguineous turkish families have been reported (last curated january 2015)

•

en:treatment with bh4 is effective

•

en:three unrelated boys have been reported (as of july 2011)

•

en:three times more common in males

•

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

•

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

•

en:symptoms occur only during sleep

•

•

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

•

en:some patients never gain ambulation or become wheelchair-bound

•

en:some patients may present with adult-onset small fiber neuropathy

•

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

•

en:some patients do not have dysmorphic features

•

en:some patients become wheelchair-bound

•

en:slowly or non-progressive

•

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

•

en:skin lesions are fully penetrant by second decade

•

en:skin abnormalities tend to decrease with age

•

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

•

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

•

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

•

en:short umbilical cord

•

en:short stepped shuffling gait

•

en:severe course

•

en:seizures resolve by 4 months of age

•

en:seizures may occur upon awakening or at any time during the day

•

en:seizures and dystonia peak during childhood

•

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

•

en:see ebn1 (121200) for an autosomal dominant form

•

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

•

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

•

en:see also oca1a (203100)

•

en:see also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the bhd syndrome

•

en:see also dyssegmental dysplasia, silverman-handmaker type (224410)

•

en:see also cbld (277410)

•

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

•

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

•

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

•

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

•

en:responsive to treatment

•

en:reported in 1 family (last curated may 2013)

•

en:recurrent bacterial, viral, and fungal infections

•

en:rarely reported in infants

•

en:rapidly progressive (6-24 months)

•

en:pulsatile headache lasts hours to days

•

en:provoked by crying or emotional upset

•

en:prevalent in quebec

•

en:prevalent in bulgarian gypsies

•

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

•

en:prevalence of 1 in 40,000 to 1 in 80,000

•

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

•

en:presents at a later stage than sporadic wilms tumor

•

en:presentation between 6-18 months

•

en:phenotypic similarities to leigh syndrome (256000)

•

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

•

en:phenotypic overlap with currarino syndrome (176450)

•

en:phenotype may be influenced by maternal alcohol consumption during pregnancy

•

en:perinatal lethality

•

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

•

en:penetrance 86% by 50 years of age

•

en:pectus carinatum present in obligate carrier mothers

•

en:patients with longer disease duration show motor neuron involvement

•

en:patients with homozygous mutations have a more severe disorder

•

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

•

en:patients often become wheelchair-bound

•

en:patients may show both optic neuropathy and dystonia or only 1 disorder

•

en:patients may present with autoimmune features or primary immunodeficiency

•

en:patients may have seizures only, dyskinesia only, or both

•

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

•

en:patients gradually develop tolerance to carbohydrates over time

•

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

•

en:patients can have multiple seizure types

•

en:patients are susceptible to sepsis and dehydration

•

en:onset usually in the neck

•

en:onset usually in the first 4 years of life

•

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

•

en:onset usually in childhood or adolescence

•

en:onset usually associated with febrile illness

•

en:onset of symptoms at 2-4 months

•

en:onset of seizures in later childhood (5 to 10 years)

•

en:onset of hemolytic anemia shortly after birth

•

en:onset of hearing loss in late childhood

•

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

•

en:onset of achalasia in infancy or early childhood

•

en:onset in the second to fourth decades of life

•

en:onset in the first 2 years of life

•

en:onset in late teens to early forties

•

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

•

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

•

en:onset in fifties or sixties

•

en:onset in early twenties

•

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

•

en:onset in childhood or youth

•

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

•

en:onset in childhood (mean age 10 years)

•

en:onset in childhood (later than in antenatal bartter syndrome 241200)

•

en:onset beyond the second year of life

•

en:onset at age 5 years

•

en:onset around age 2 years

•

en:onset 7 to 15 months of age

•

en:onset - present at birth

•

en:one patient who died at 5.5 months of age has been reported (last curated december 2012)

•

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

•

en:one family with a fatal subacute encephalopathy has been reported

•

en:one family reported (last curated may 2013)

•

en:one family had normal cognitive and neurologic development

•

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

•

en:one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011)

•

en:no increased fragility of hair

•

en:not all patients have a myopathy

•

en:normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe

•

en:neurologic signs may not be present

•

en:neurologic features are variable and not progressive

•

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

•

en:mutational analysis revealed that the original weissenbacher-zweymuller patient had non-ophthalmic stickler syndrome (stkl3, 184840)

•

en:muscle symptoms precede cardiac symptoms

•

en:multiple spontaneous abortions in obligate carriers

•

•

en:most patients have severe streptococcus pneumoniae infections

•

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

•

en:most individuals are asymptomatic

•

en:most cases sporadic

•

en:most affected males die of respiratory failure within the first months of life

•

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

•

en:mliii is a heterogeneous disorder

•

en:median age at diagnosis 7 years

•

en:mean age of onset 30 years (range first to seventh decade)

•

en:mean age of onset 30 years

•

en:mean age of onset 18 years

•

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

•

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

•

en:may have seasonal variance in severity

•

en:may be progressive

•

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

•

en:masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia

•

en:marked heterogeneity

•

en:marked clinical variability within families

•

en:many patients become wheelchair-bound

•

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

•

en:male to female ratio 4:1

•

en:male patients have more severe disease than female patients

•

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

•

en:male-to-female ratio of 3:2 in childhood cases

•

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

•

en:majority of cases in japan

•

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

•

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

•

en:late onset combined immunodeficiency with allelic variant 102700.0020

•

en:late-adult onset has been reported

•

en:juvenile and adult forms are isolated glycerol kinase deficiency

•

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

•

en:intolerant of heat

•

en:increased tendency to chromosomal nondisjunction

•

en:increased prevalence among the finnish

•

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 the faroe islands (carrier 1 in 25)

•

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

•

en:incidence of 4 per million per year

•

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

•

en:incidence of 1 in 5,000-8,000

•

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

•

en:incidence of 1 in 150,000 live births in the general population

•

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

•

en:incidence 7-15% in pacific island populations

•

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

•

en:imprinting at 11p15.5

•

en:homozygotes have earlier onset and a more severe disorder

•

en:hip replacement in early adulthood

•

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

•

en:highly variable severity of muscle weakness

•

en:highly variable dysmorphic features

•

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

•

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

•

en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct

•

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

•

en:good seizure control with medication

•

en:genetic heterogeneity (see lgmd1a 159000 for overview)

•

en:genetic heterogeneity (see bscl1, 608594)

•

en:genetic heterogeneity (see 145410)

•

en:genetic heterogeneity (see, e.g., atfb1, 608583)

•

en:genetic heterogeneity, see, e.g., mgr2 (300125), mgr3 (607498), mgr4 (607501), mgr5 (607508), mgr6 (607516)

•

en:four patients reported (last curated april 2013)

•

en:four patients have been reported from pakistan (as of march 2011)

•

en:four patients have been reported

•

en:four individual patients and 1 saudi family have been reported (as of february 2012)

•

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

•

en:females more severely affected than males

•

en:favoring of fat and protein

•

en:favorable response to treatment with riboflavin

•

en:familial form

•

en:facial dysmorphism is uncommon

•

en:extremely variable phenotype

•

en:evidence of incomplete penetrance in one family

•

en:estimated incidence of 1 in 17,000

•

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

•

en:episodes not triggered by alcohol, caffeine, or stress

•

en:episodes last about 1.5 hours

•

en:episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy

•

en:early onset (average 1 year)

•

en:early lethality in most cases

•

en:early death due to infection

•

en:early death (mean age 13 months)

•

en:early childhood onset (before age 5 years)

•

en:early-onset severe renal disease

•

en:dysmorphic features are mild or variable

•

en:duane anomaly is not always present

•

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

•

en:digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 (605514) genes

•

en:diarrhea-associated (d+hus), occurs in children younger than 3 years, associated with verotoxin-producing e. coli (90% of patients) (typical hus)

•

en:de novo mutations occur almost exclusively on the paternally derived x chromosome

•

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

•

en:death usually within first year of life

•

en:death in first weeks of life

•

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

•

en:death can occur in infancy

•

en:considered to be a manifestation of the caudal regression syndrome

•

en:clubfoot is bilateral in most patients

•

en:clonidine can alleviate hyperhidrosis

•

en:clinical variability

•

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

•

en:clinical presentation varies from asymptomatic to fulminant course

•

en:clinically classified into classic, atypical, and intermediate phenotypes

•

en:chromosome rearrangements gave been reported

•

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

•

en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities)

•

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

•

en:can be effectively treated with n-carbamylglutamate

•

en:blistering frequency may decrease with age

•

en:bleeding is usually delayed-onset after challenge

•

en:bethlem myopathy (158810) is an allelic disorder with a milder phenotype and autosomal dominant inheritance

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6946997 • caches: c1=6 c2=1002 c3=1

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]

A propos

Champs masqués

0.3 s