Diko : en:clonidine can alleviate hyperhidrosis

en:clonidine can alleviate hyperhidrosis

Catégories

Nom

Informations lexicales

Langue:anglais

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umls:C3550726

Associations d'idées

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1000

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

•

en:onset of hearing loss in second decade

•

en:ambulation is usually maintained during adulthood

•

en:all cases presumed de novo mutation

•

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

•

en:age of onset 1 to 2 years

•

en:about 25% of cases due to new mutations

•

en:service comment 22:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:waddling gait noted at age 15-20 months

•

en:usual onset under age 30 years

•

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

•

en:primary teeth affected greater than secondary teeth

•

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

•

en:autosomal recessive inheritance has been suggested

•

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

•

en:female carriers may have mild hearing impairment and/or mild signs of choroideremia

•

en:diagnosis within the first 3 months of life

•

en:crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases

•

en:a subset of patients may have congenital abnormalities of the ocular anterior segment

•

en:allelic disorder to autosomal dominant form (129490)

•

en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause

•

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

•

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

•

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

•

en:unusual cabbage-like odor

•

en:autosomal recessive cytochrome b-positive cgd, type ii (233710)

•

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

•

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

•

en:no family history of

•

en:death secondary to respiratory insufficiency

•

en:subtle personality and behavioral changes are presenting signs

•

en:presents at birth or early childhood

•

en:patients are severely disabled as adults

•

en:onset usually in mid-teens, average 15 years (range 2 to 20 years)

•

en:onset usually in first decade

•

en:onset of hearing loss in childhood

•

en:onset of alopecia in infancy

•

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

•

en:one family reported (as of may 2012)

•

en:one 5-generation chinese family reported (last curated november 2014)

•

en:onset of essential tremor between 16 and 44 years

•

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

•

en:more common in women

•

en:manifestations of cushing syndrome may be mild

•

en:highly variable severity

•

en:genetic heterogeneity (see 116800 for summary)

•

en:genetic heterogeneity, see mgr1 (157300)

•

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

•

en:early onset (1 month to 4 years)

•

en:earlier onset is rare

•

en:neurologic involvement may occur in the absence of visceral involvement

•

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

•

en:mean age of death is 34 years

•

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:often identified in newborn period

•

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

•

en:prevalence of in 1 in 8,000

•

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

•

en:onset age 32 to 45 years

•

en:onset late childhood

•

en:onset of hyperuricemia or gout in young adulthood

•

en:prevalence of 1 in 70,000

•

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

•

en:majority of cases from middle eastern countries

•

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

•

en:gradual spontaneous improvement in the first year of life

•

en:genetic heterogeneity (see npc2, 607625)

•

en:genetic heterogeneity (see 259700)

•

en:considered a myeloproliferative disorder

•

en:carrier frequency 1:200,000 in france

•

en:carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation)

•

en:c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy'

•

en:associated with smoking

•

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:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years)

•

en:allelic to dyggve-melchior-clausen disease (223800)

•

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

•

en:seizure severity and frequency tend to improve with age

•

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

•

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

•

en:skin manifestations are more severe and of later onset than papillon-lefevre syndrome

•

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

•

en:variable age at onset (range 2 to 48 years)

•

en:variable age at onset, ranges from third to fifth decade of life

•

en:significant clinical overlap with sotos syndrome (117550)

•

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

•

en:present in infancy in all affected individuals

•

en:patients may or may not have dysmorphic features

•

en:onset usually in first to third decade of life

•

en:onset 30-40 years of age

•

en:one patient with normal psychomotor development has been reported (last curated december 2012)

•

en:neuroendocrine recovery occurs in some patients

•

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

•

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

•

en:most common form of inherited, congenital hydrocephalus

•

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

•

en:may result in early death from severe diarrhea

•

en:based on 2 unrelated chinese families (last curated july 2014).

•

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

•

en:wide spectrum of severity

•

en:resource identifier:uri:pt:study:nom

•

en:associated with hla-dqa1*01, hla-dqb1*05, and hla-dqa1*01/dqb1*05 high association with hla-drb1*0102 (relative risk 167.1)

•

en:autonomic dysfunction usually precedes obvious neurologic deterioration

•

en:death often before age 2

•

en:death usually due to respiratory failure

•

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

•

en:favorable response to hydroxychloroquine treatment

•

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

•

en:genetic anticipation has been observed

•

en:inborn error of the pyrimidine degradation pathway

•

en:onset usually in second decade

•

en:often refractory to medical therapy

•

en:onset between 18 and 65 years

•

en:onset of neurologic disease in early adulthood

•

en:onset usually in childhood or adolescence

•

en:tremor may be elicited by movement or postural maintenance

•

en:present in jewish yemenite population

•

en:prevalent in bulgarian gypsies

•

en:resembles intrauterine torch infection but without intrauterine infection

•

en:response to zinc supplementation

•

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

•

en:more frequent in individuals of asian descent

•

en:occurs in 1 in 50,000 newborn males

•

en:dysmorphic facial features are variable

•

en:later onset of hearing loss in some patients

•

en:juvenile onset 4 years to puberty

•

en:increased risk of early death

•

en:incidence of 1 per 10,000 births in japan

•

en:half (50%) of affected patients have a recurrent episode with worse outcome

•

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

•

en:facial dysmorphic features are mild

•

en:death within first year of life

•

en:death usually within first weeks of life

•

en:contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the dss1 (601285), dlx5 (600028), and dlx6 (600030) genes and possible regulatory elements in the region

•

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

•

en:based on 1 reported patient (last curated november 2013)

•

en:approximately half of the mutations are de novo

•

en:adult onset (wide range of age)

•

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

•

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

•

en:variable age at onset, but usually in childhood

•

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

•

en:marked phenotypic variability, even within an individual

•

en:variable severity, intrafamilial

•

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

•

en:telangiectases persist in adulthood

•

en:symptomatic if > 200 repeats

•

en:survival to 10 years

•

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

•

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

•

en:partial laminin alpha-2 deficiency results in milder phenotype

•

en:onset of symptoms in second decade of life

•

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

•

en:mean age of diagnosis of renal cell carcinoma is 46 years

•

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

•

en:this patient died at age 2 years

•

en:males are more severely affected

•

en:all affected individuals have been stillborn or died in the neonatal period

•

en:majority of cases have been sporadic

•

en:variable phenotype within families

•

en:20-40% patients are asymptomatic

•

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

•

en:allelic with retinitis pigmentosa 35 (610282)

•

en:age at first pregnancy:time:point in time:^patient:quantitative

•

en:anemia may show onset in infancy

•

en:intrafamilial variability

•

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

•

en:decreased life expectancy

•

en:hearing impairment may improve with age

•

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

•

en:caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24

•

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

•

en:onset usually before age 10 years

•

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

•

en:persistent bleeding after trauma

•

en:precipitated by fatigue or alcohol

•

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

•

en:usually presents in third to fourth decade (but onset can range from childhood to elderly)

•

en:variable infectious phenotype

•

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

•

en:most common mutation is leu276ile (606596.0004)

•

en:normal alleles have 25 to 44 repeats

•

en:based on report of 2 siblings and 1 patient (last curated december 2014)

•

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

•

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

•

en:highly variable phenotype, even within families

•

en:heterozygotes are not affected

•

en:death may occur in infancy

•

en:death in infancy secondary to respiratory insufficiency/pneumonia

•

en:both heterozygous and homozygous mutations have been reported

•

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

•

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

•

en:age of onset 23-59 years

•

en:adult onset may also occur

•

en:favorable response to a ketogenic diet

•

en:death usually by 1 year of age

•

en:onset in first days of life

•

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

•

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

•

en:increased prevalence in individuals of turkish descent

•

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

•

en:ush3 cases account for 40% of all usher patients in finland

•

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

•

en:trauma, im injection, surgery can be foci of ectopic ossification

•

en:spontaneous chromosomal instability with multiple rearrangements, especially chromosome 7 and 14

•

en:skin manifestations may not be present

•

en:seizures may improve with age

•

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

•

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

•

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

•

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

•

en:onset usually after viral-like infection

•

en:neurologic signs last hours to days

•

en:onset of skin lesions at birth

•

en:itch, pain, and body malodor often

•

en:mean age at onset of bone fractures, 24 years

•

en:medullary thyroid cancer is aggressive and can occur in childhood

•

en:most patients have no bleeding abnormalities

•

en:increased susceptibility to infections

•

en:neuromuscular forms can present as perinate, infant, child, or adult

•

en:onset after puberty

•

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

•

en:onset in second and third decades

•

en:onset in second to fourth decade

•

en:onset in females ranges from third to seventh decade

•

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

•

en:may be exacerbated by febrile illness

•

en:most mutations occur de novo

•

en:most patients are clinically asymptomatic

•

en:onset 1-12 years

•

en:patients often become wheelchair-bound

•

en:onset of cataracts in late adolescence

•

en:onset of seizures before age 2 years

•

en:later onset has been reported

•

en:prevalence of 1 in 227 hopi indians

•

en:progression to profound hearing loss affecting all frequencies

•

en:severe infantile cases usually die by 6 months

•

en:leigh syndrome, x-linked

•

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

•

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

•

en:infants may have acute life-threatening crises

•

en:individuals do not develop erythrocytosis under hypoxic conditions

•

en:icelandic families

•

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

•

en:early death may occur

•

en:death within 12 months

•

en:death secondary to renal failure, cardiac or cerebrovascular disease

•

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

•

en:based on 3 patients from 2 families (last curated january 2015)

•

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

•

en:alcohol may alleviate symptoms

•

en:adult-onset is referred to as small fiber neuropathy

•

en:sudden infantile death may occur

•

en:sex ratio of 4-4.5 males to 1 female

•

en:scalp hair quality improves during pregnancy

•

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

•

en:later onset with a milder phenotype may also occur

•

en:variable severity and progression

•

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

•

en:usually affects children

•

en:up to 50% of patients may have various additional congenital anomalies

•

en:type iii is intermediate form

•

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

•

en:tumors are microsatellite stable

•

en:see 608358 for an autosomal dominant form

•

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

•

en:plasma cholinesterase measurement

•

en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440)

•

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

•

en:onset in early adulthood (average 26 years)

•

en:progressive or slowly progressive

•

en:genetic heterogeneity, see apmr1 (203650)

•

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

•

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

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en:reason for lab test:type:pt:bld.dot:nom

•

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

•

en:affected infants die in neonatal period

•

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

•

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

•

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

•

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

•

en:central hypoventilation occurs late in the disease and is often fatal

•

en:early childhood onset (before age 5 years)

•

en:female carriers may have mild hearing impairment

•

en:normal range of expanded repeats 9-29, hd range 36-121

•

en:most patients die from heart failure

•

en:most patients have involvement of all nails, with more severe changes in the nails of the thumbs and great toes

•

en:neonatal death secondary to pulmonary insufficiency

•

en:neurologic symptoms may develop decades later

•

en:normal cag repeat length is 7 to 32 triplets

•

en:progressive disorder due to secondary myopathy

•

en:onset around age 2 years

•

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

•

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

•

en:onset in fifties or sixties

•

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

•

en:may progress to upper limbs

•

en:middle age onset

•

en:allelic to hydropic and prenatally lethal chondrodystrophy (215140)

•

en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals

•

en:congenital disorders

•

en:those who survive initial acute episode have no recurrence of hepatic involvement, but may have persistent hypotonia

•

en:about 15% of female carriers develop renal insufficiency in the second or third decade

•

en:allelic to mucolipidosis ii (252500)

•

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

•

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

•

en:clinical presentation varies from asymptomatic to fulminant course

•

en:death in perinatal period

•

en:majority of cases have bilateral involvement

•

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

•

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

•

en:diurnal fluctuation of neurologic symptoms

•

en:headache duration 4-72 hours

•

en:intermittent exacerbations

•

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

•

en:seizures are fever-sensitive

•

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

•

en:treatment with oral coenzyme q may ameliorate symptoms

•

en:not responsive to biotin treatment

•

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

•

en:two main phenotypes, severe and mild

•

en:symptoms usually occur in adults

•

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

•

en:seizures may occur with illness

•

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

•

en:onset usually before age 40 years

•

en:onset of symptoms 2-6 years of age

•

en:onset in adolescence or young adulthood has been reported

•

en:onset age 15-25 years

•

en:one of the most common autoimmune diseases

•

en:one family with 2 patients has been reported

•

en:symptoms resolve over weeks to months with usually no residual symptoms between attacks

•

en:microdeletion is approximately 1.5mb in length

•

en:death before age 3 years

•

en:mean age at onset 28 years

•

en:upper limb involvement may occur later

•

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

•

en:waddling gait

•

en:acral form of skin peeling limited to hands and feet (609796)

•

en:a subset of patients have additional features, including mental retardation and hypogonadism associated with larger deletions at xp22.3

•

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

•

en:de novo mutation resulting in haploinsufficiency of eftud2 (603892)

•

en:mean age at onset 10.6 years

•

en:favorable response to flunarizine

•

en:female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only

•

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

•

en:majority die in neonatal period secondary to respiratory insufficiency

•

en:disproportionately short limbs often noted at birth

•

en:onset in lower limbs

•

en:onset of disease within the first year of life

•

en:pathogenic alleles contain 52 to 86 repeats

•

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

•

en:poor response to levodopa treatment

•

en:seizures may persist into adulthood

•

en:premature death may occur

•

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

•

en:skin lesion appear shortly after birth and tend to disappear in young adulthood

•

en:somatic mutations occur in adrenal tumor tissue (601639.0001)

•

en:nonsyndromic

•

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

•

en:allelic to hawkinsinuria (140350)

•

en:mliii is a heterogeneous disorder

•

en:may result in early death

•

en:majority of individuals are healthy

•

en:incidence ranges from 1 in 40,000 to 1 in 350,000 births

•

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

•

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

•

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

•

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

•

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

•

en:age at diagnosis 28 +/- 18 years

•

en:diabetes status:prid:pt:^patient:nom

•

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:no response or worsening with acetylcholinesterase inhibitors

•

en:visual impairment is present at birth and is progressive

•

en:may be lethal if untreated

•

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

•

en:symptoms improve during the summer

•

en:some patients are clinically unaffected.

•

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

•

en:seizures are refractory to treatment

•

en:rickets and premature primary tooth loss occur in childhood

•

en:prevalent among the amish

•

en:prevalence in taiwan is 1 in 132,000

•

en:onset of slowly progressive spastic paraplegia in first or second decade

•

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

•

en:less than 20% have onset at 18 years of age or less (dominant and recessive)

•

en:cells of origin are part of the diffuse neuroendocrine system (dnes)

•

en:high frequency in hutterite population

•

en:service comment 56:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation'

•

en:age-dependent penetrance

•

en:arteriovenous malformations can occur throughout the body

•

en:chromosomal hypersensitivity to ionizing radiation and alkylating agents

•

en:death usually in the first 2 years of life

•

en:female to male ratio, 1:1

•

en:genetic heterogeneity (see cmt4a 214400)

•

en:hair, nails, and teeth are normal

•

en:occurs in full-term newborns

•

en:paternal age effect

•

en:onset before 10 years of age in all patients

•

en:onset in teenage years

•

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

•

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

•

en:symptoms may be aggravated by acute illness

•

en:possible x-linked dominant inheritance

•

en:repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats)

•

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

•

en:risk of sudden death with exertion

•

en:seizures usually remit spontaneously by 12 months of age

•

en:some patients can attend special school

•

en:mother had rubella infection during pregnancy with daughter

•

en:obligatory heterozygotes are clinically unaffected

•

en:acanthosis nigricans fades during adolescence and reappears in pregnancy

•

en:mildly progressive

•

en:disorder usually remains stable over time

•

en:service comment 29:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

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

•

en:age of onset 43-64 years

•

en:associated with hemodialysis

•

en:cause of death usually due to respiratory failure before adulthood

•

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

•

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

•

en:fifty percent of cases secondary to new mutations

•

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

•

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

•

en:heterozygous female carriers may manifest symptoms

•

en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes

•

en:l-dopa-induced dyskinesias

•

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

•

en:massive aortic aneurysm can cause airway compression in affected infants

•

en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490)

•

en:see also pgl1 (168000)

•

en:one swiss family with 19 affected individuals has been described (last curated february 2014)

•

en:only 46,xy individuals are affected

•

en:onset 50 to 65 years

•

en:onset of joint pain in childhood

•

en:patients may present with either renal or neurologic symptoms

•

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

•

en:most types show autosomal dominant inheritance

•

en:some features occur in adolescence, including migraine, seizures, and psychiatric disorders

•

en:some patients may have residual muscle weakness

•

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

•

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

•

en:35% of cases involve ileum only (ileitis), 45% of cases involve ileum and colon (ileocolitis), 20% of cases involve colon alone - rectum spared (granulomatous colitis)

•

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

•

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

•

en:symptoms induced by strenuous exercise

•

en:average age at onset 18.6 years

•

en:females are more often affected

•

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

•

en:death in utero or early infancy

•

en:duane anomaly is not always present

•

en:early death due to infection

•

en:adult onset (range 14 to 70 years)

•

en:episodes triggered by fasting, illness, fever

•

en:females more severely affected than males

•

en:genetic heterogeneity (see feb1 121210)

•

en:heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures

•

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

•

en:incidence of 1 in 6,000 males

•

en:many patients become wheelchair-bound

•

en:most patients die in childhood

•

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

•

en:prominent psychiatric symptoms

•

en:two patients from spain have been reported (as of january 2012)

•

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

•

en:tumors may show spontaneous regression

•

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

•

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

•

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

•

en:three patients from 1 mexican family has been reported (last curated april 2013)

•

en:symptoms noted at 2-3 years

•

en:susceptibility to infections starts in the first week of life

•

en:static or slowly progressive

•

en:spasticity occurs before parkinsonism

•

en:some patients show delayed development from birth

•

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

•

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

•

en:type 2cb is characterized by defective binding affinity for collagen types i and iii

•

en:type 3: craniosynostosis, early demise, sporadic

•

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

•

en:udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic)

•

en:upper limb involvement usually occurs later

•

en:usually fatal in infancy

•

en:usually occurs in young adults

•

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

•

en:variable age at onset, ranging from 18 months to 27 years

•

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

•

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

•

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

•

en:some patients respond to acetazolamide

•

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

•

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

•

en:provoked by crying or emotional upset

•

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

•

en:rapidly progressive (6-24 months)

•

en:rapidly progressive deterioration (in some patients)

•

en:rapidly progressive to persistent vegetative state or death

•

en:recurrent acute episodes

•

en:reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years

•

en:reported in individuals of french canadian origin

•

en:reported in individuals of sephardic jewish ancestry

•

en:see 609888 for a discussion on leprosy susceptibility

•

en:see also distal hmn2a (158590)

•

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

•

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

•

en:severe course

•

en:severity of phenotype is not related to residual enzyme activity

•

en:skin abnormalities tend to decrease with age

•

en:skin lesions are fully penetrant by second decade

•

en:slowly progressive disease

•

en:smaller repeat lengths in younger generations (reverse anticipation)

•

en:some patients develop diabetes mellitus as adolescents

•

en:some patients experience later reversal of hypogonadotropic hypogonadism

•

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

•

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

•

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

•

en:all cases have been sporadic

•

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

•

en:associated with fragile x syndrome (309550)

•

en:allelic disorder to rett syndrome (312750)

•

en:allelic disorder to spinal muscular atrophy type i (253300)

•

en:allelic to brachydactyly, type a2 (112600)

•

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

•

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

•

en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930)

•

en:allelic to hand osteoarthritis (607850)

•

en:allelic to marshall syndrome (154780)

•

en:allelic to papillon-lefevre syndrome (245000) and haim-munk syndrome (245010)

•

en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299)

•

en:prevalence in finland is 1 in 25,000

•

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

•

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

•

en:association of cardiac events with exercise

•

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

•

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

•

en:autosomal recessive inheritance can occur

•

en:autosomal recessive inheritance has been described in 2 families

•

en:autosomal recessive inheritance has been reported in 1 family

•

en:autosomal recessive inheritance is most common

•

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

•

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

•

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

•

en:behavioral problems including stubbornness and rage

•

en:both autosomal dominant and autosomal recessive inheritance has been described

•

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

•

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

•

en:can be slowly or rapidly progressive

•

en:caused by inborn error in bile acid synthesis

•

en:allelic disorder to orofaciodigital syndrome 1 (ofd1, 311200)

•

en:allelic disorder to child syndrome (308050)

•

en:variable frequency and duration of episodes

•

en:12% due to epimutation

•

en:variable neurologic phenotype

•

en:variable number of nails involved

•

en:variable phenotypic expression

•

en:wide phenotypic variability and severity

•

en:last name:pn:pt:^guardian or legally authorized representative:nom

•

en:service comment 04:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:service comment 60:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 66:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 76:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 80:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

en:blood glucose monitor with integrated voice synthesizer

•

en:1 in 50,000 in korea

•

en:allelic disorder to a form of dilated cardiomyopathy (cmd1g, 604145)

•

en:50% of cases are de novo

•

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

•

en:abnormal morphogenesis of first and second branchial arches

•

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

•

en:about 50% of mutation carriers are asymptomatic

•

en:acquired autoimmune disorder

•

en:adult onset (20 to 40 years)

•

en:adult onset (range 28 to 55 years)

•

en:adult onset of muscle symptoms

•

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

•

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

•

en:age of onset 36 to 55 years (mean 47)

•

en:aggressive malignancies

•

en:allelic disorder to adult polyglucosan body disease (263570)

•

en:progresses to involve upper limbs

•

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

•

en:presenting symptoms in the upper body

•

en:many cases are sporadic, but somatic and germline mosaicism has been reported

•

en:internal organ rupture may occur

•

en:in 1 family, heterozygous mutations were associated with hypobetalipoproteinemia and acanthocytes without neurologic abnormalities

•

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

•

en:late adult onset (after age 55 years)

•

en:late infantile onset 6-24 months

•

en:lethal in 40% of patients

•

en:lethal in the neonatal period

•

en:levodopa-responsive

•

en:loss initially affects mid and high frequencies

•

en:loss of ambulation within 10 years of onset

•

en:lymphedema resolves by age 3 years

•

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

•

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

•

en:marked phenotypic variability

•

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

•

en:may coexist with autoimmune vitiligo or thyroiditis

•

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

•

en:mean age of onset 56 years

•

en:medial onset of end stage renal disease 13 years

•

en:median age of onset of pancytopenia - 10 years (range 1-32 years)

•

en:median survival is > 50 years

•

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

•

en:mild expression in heterozygous carriers

•

en:mild to severe forms of disease

•

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

•

en:most cases sporadic

•

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

•

en:most common inherited ataxia

•

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

•

en:increased frequency in finland

•

en:most patients have severe streptococcus pneumoniae infections

•

en:hearing loss is usually severe by age 20 years

•

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

•

en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form

•

en:generally static disease course

•

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

•

en:genetic heterogeneity (see, e.g., 600795, 105550)

•

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

•

en:genetic heterogeneity (see 608638)

•

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

•

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

•

en:genetic heterogeneity (see rieg2, 601499)

•

en:gonadal mosaicism reported

•

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

•

en:hematuria may become apparent after respiratory infections (synpharyngitic)

•

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

•

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

•

en:heterozygous females may exhibit variable degrees of enzyme deficiency

•

en:highly variable organ involvement and severity

•

en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens')

•

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

•

en:high frequency in japan (2 in 20,000, 0.1%)

•

en:hypogonadism reported in a large swedish kindred

•

en:hypothyroidism is less severe in individuals with high dietary iodine intake

•

en:if onset of diabetes is before age 25, the diagnosis is consistent with maturity-onset diabetes of the young type 5 (mody5)

•

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

•

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

•

en:incidence of 1 in 5,000 to 1 in 10,000

•

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

•

en:incidence of mh in anesthetized children is 1 in 15,000

•

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

•

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

•

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

•

en:onset within first 2 years of life

•

en:onset in third to fourth decade

•

en:onset in young adulthood

•

en:onset mid to late adulthood

•

en:onset of chronic progressive polyneuropathy in late childhood

•

en:onset of dilated cardiomyopathy less than 3 years

•

en:onset of joint contractures later in life

•

en:onset of kyphosis in childhood

•

en:onset of lipodystrophy in early childhood

•

en:onset of lymphedema before puberty

•

en:onset of motor disturbances in childhood

•

en:onset of symptoms usually between 12-15 years

•

en:onset ranges from childhood to adulthood

•

en:onset usually associated with febrile illness

•

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

•

en:onset in the second to fourth decades of life

•

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

•

en:partial factor viii deficiency in heterozygous carriers

•

en:patients achieve ambulation

•

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

•

en:patients have no abnormalities of hair, teeth, or bone

•

en:patients retain ambulation even after long disease course

•

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

•

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

•

en:phenotypic overlap with currarino syndrome (176450)

•

en:phenotypic overlap with parkinson disease

•

en:poor or no response to glucocorticoid treatment

•

en:precipitated by sleep deprivation

•

en:prenatal or neonatal onset

•

en:presentation after 6 months

•

en:onset in third decade

•

en:onset in late twenties

•

en:muscle symptoms precede cardiac symptoms

•

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

•

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

•

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

•

en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011)

•

en:nails may be intermittently involved

•

en:near-normoglycemic remission for period of months to years without insulin treatment

•

en:neurologic features are variable and not progressive

•

en:night blindness from early childhood

•

en:non-progressive or very slowly progressive

•

en:no mutations reported in la reunion island patients (last curated august 2014)

•

en:occurs most often between 5 and 15 years of age

•

en:one-third of cases are sporadic

•

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

•

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

•

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

•

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

•

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

•

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

•

en:one patient reported (last curated november 2013)

•

en:one patient with normal cognition has been reported

•

en:one third of patients represent new mutations

•

en:onset 6 to 30 years

•

en:onset as neonate

•

en:onset before 50 years of age

•

en:onset between 5 and 20 years

•

en:onset between 6 and 12 months of age

•

en:onset in childhood (6-7 years)

•

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

•

en:onset in first hours to days of life

•

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

•

en:cheerful disposition

•

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

•

en:rapid progression in adolescence

•

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

•

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

•

en:persistent bleeding after injury or surgery

•

en:poor outcome

•

en:precipitated by febrile illness and fasting

•

en:predisposition to neoplasia

•

en:premature aging syndrome

•

en:presentation in first year of life

•

en:prevalence estimated at 1 in 50,000

•

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

•

en:protein c deficiency is found in 3-4% of patients with venous thromboembolism

•

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

•

en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400)

•

en:rarely produces clinical jaundice

•

en:patients do not have ectopia lentis

•

en:renal anomalies are not always present

•

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

•

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

•

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

•

en:seizures are refractory

•

en:seizures last about 30 seconds to 3 minutes

•

en:patients may require implantable cardioverter defibrillators

•

en:patients do not exhibit ophthalmoplegia

•

en:severe infantile form presents before 6 months

•

en:onset of lipodystrophy later in childhood

•

en:onset in infancy or late childhood

•

en:onset in infancy was reported in 1 family

•

en:onset in late childhood or adulthood

•

en:onset in the sixth or seventh decades

•

en:onset in utero, infancy, or early childhood

•

en:onset of acanthosis nigricans correlates with onset of diabetes

•

en:onset of autoinflammation in infancy or first few years of life

•

en:onset of bleeding symptoms in childhood or young adulthood

•

en:onset of choroideremia in second to third decade

•

en:onset of disease 7 months to 3 years

•

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

•

en:onset of hearing loss prior to or during adolescence

•

en:onset of insulin resistance may occur in childhood

•

en:onset of mild symptoms in first or second decade

•

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

•

en:onset of osteoarthritis in teens to early adulthood

•

en:onset of parkinsonism in first decade

•

en:onset of proteinuria in the second to fourth decades

•

en:onset of seizures between 8 and 11 months of age

•

en:onset of seizures in first 6 months of life

•

en:onset of seizures ranges from 2 to 11 years

•

en:onset of symptoms in early childhood

•

en:onset of thrombocytopenia in early childhood

•

en:onset precipitated by fasting or illness

•

en:onset usually between 30 and 50 years of age

•

en:onset usually in first or second decades

•

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

•

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:patients can have als, ftd, or both

•

en:several forms of autosomal recessive spastic paraplegia (see 270800)

•

en:sex ratio - 2 females to 1 male

•

en:onset in first month of life

•

en:variable age at onset of seizures

•

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

•

en:two fetuses from terminated pregnancies in 1 family have been reported (last curated march 2015)

•

en:two patients reported (last curated may 2013)

•

en:two patients without cardiomyopathy or cataracts have been reported

•

en:ultrasound detection in second trimester of pregnancy

•

en:upper limb involvement in first decade

•

en:variable age at onset (childhood to adult)

•

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

•

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

•

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

•

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

•

en:variable distribution, may be focal, segmental, multifocal, or generalized

•

en:variable facial dysmorphic features

•

en:variable features and severity

•

en:variable ictal semiology

•

en:variable neuroradiologic findings

•

en:variable phenotype and severity

•

en:variable survival (some neonatal lethality)

•

en:variably severity

•

en:vhl type 2a - hemangioblastoma and pheochromocytoma

•

en:vhl type 2c - pheochromocytoma only

•

en:visual symptoms present by late childhood

•

en:warm weather and alcohol are alleviating factors

•

en:wheelchair-bound average 12 years after onset

•

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

•

en:two families have been reported (as of curation date april 2014)

•

en:triggers are variable, even within a family

•

en:six genetically confirmed patients have been reported (as of december 2009)

•

en:some patients may respond to thiamine treatment

•

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

•

en:skin changes are progressive in childhood

•

en:sleep terrors usually remit during adolescence

•

en:slow or nonprogressive

•

en:slow progression without marked disability

•

en:some carrier females have mild features

•

en:some features are variably expressed

•

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

•

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

•

en:some patients have a crouzon-like appearance

•

en:some patients may benefit from coenzyme q10 treatment

•

en:some patients may develop interictal progressive ataxia

•

en:some patients may live to adulthood

•

en:some patients may show response to immunosuppressive agents

•

en:tremor is aggravated by low glucose or light

•

en:some patients show no bleeding abnormalities

•

en:spontaneously resolves by 5 to 6 months of age

•

en:subtype 3b comprises horizontal supranuclear gaze palsy and aggressive systemic disease

•

en:sudden death in affected males occurs in teens

•

en:symptoms precipitated by exercise and excitement

•

en:symptoms usually last 30-60 minutes

•

en:syndromic forms of dense granule only platelet storage pool deficiencies (delta-spd) include hermansky-pudlak syndrome (203300) and chediak-hygashi syndrome (214500)

•

en:systemic granulomatous disease

•

en:therapy-induced dyskinesias

•

en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea

•

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

•

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

•

en:onset in infancy or early childhood

•

en:onset in early childhood or adolescence

•

en:contiguous gene syndrome

•

en:hip replacement in early adulthood

•

en:genetic heterogeneity (see cftd1, 255310)

•

en:genetic heterogeneity (see gefs+, 604233)

•

en:genetic heterogeneity (see mcc2 deficiency 210210)

•

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

•

en:gradual progression of hearing loss

•

en:growth retardation onset in utero

•

en:hair phenotype present at birth and involves entire scalp region

•

en:haploinsufficiency of grn (138945)

•

en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern

•

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

•

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

•

en:highly variable age at onset

•

en:highly variable severity of muscle weakness

•

en:homozygotes have earlier onset and a more severe disorder

•

en:genetic heterogeneity, see ppnad1 (610489)

•

en:hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion

•

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

•

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

•

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

•

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

•

en:increased abortuses of homozygous or compound heterozygous fetuses

•

en:increased frequency among individuals of east asian descent

•

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

•

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

•

en:increased rate of miscarriage in affected individuals

•

en:increased sensitivity to heat

•

en:increased susceptibility to neisseria infections

•

en:increased tendency to chromosomal nondisjunction

•

en:genetic heterogeneity (see 601680)

•

en:genetic heterogeneity, see fhm1 141500

•

en:infant death may occur secondary to sepsis

•

en:early death, usually before age 2 years

•

en:contractures most severe by midadolescence

•

en:cutaneous telangiectases often not evident until 20-30 years of age incidence 1 in 5,000-8,000

•

en:death in childhood secondary to malabsorption

•

en:death usually in early childhood

•

en:death usually occurs in infancy or childhood if untreated

•

en:death usually within first 2 years of life

•

en:digenic form caused by heterozygous mutations in the gpr98 (602851.0010) and pdzd7 (612971.0002) genes

•

en:disease course depends on age at onset

•

en:disease is life-threatening if untreated

•

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

•

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

•

en:diurnal fluctuation, more apparent in earlier years, later subsides

•

en:dysmorphic features are mild or variable

•

en:early onset in some patients

•

en:genetic heterogeneity, see ekd1 (128200)

•

en:end-stage renal failure may occur

•

en:endocrine defects evolve over time

•

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

•

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

•

en:estimated prevalence of 1.6 in 1,000,000 individuals in the u.k.

•

en:familial form

•

en:fatal without hematopoietic stem cell transplantation

•

en:favorable response to bh4 therapy

•

en:favorable response to treatment with riboflavin

•

en:features in addition to mental retardation are variable

•

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

•

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

•

en:fracture frequency constant through childhood, decreases after puberty

•

en:frequency of attack, monthly - bimonthly

•

en:infantile onset (in 1 patient)

•

en:later onset of ophthalmoparesis

•

en:onset in childhood (mean 6 years)

•

en:one of the 2 most common forms of albinism in the world, along with oca2

•

en:one-third of cases are familial

•

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

•

en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:one family of french-canadian origin has been reported (last curated august 2014)

•

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

•

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

•

en:one living patient and 1 unrelated fetus have been reported (last curated august, 2014)

•

en:one pakistani reported (last curated november 2012)

•

en:nystagmus is often the presenting sign

•

en:one patient (patient a) and 2 sibs have been reported (last curated february 2015)

•

en:one patient has been reported

•

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

•

en:one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications

•

en:one patient was less severely affected

•

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

•

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

•

en:onset 0-12 hours after birth

•

en:onset 70-90 years

•

en:onset around puberty

•

en:onset between ages 5 and 15 years

•

en:onset early childhood

•

en:onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness

•

en:onset in childhood (5 to 10 years)

•

en:occurs during pregnancy, most often in the third trimester

•

en:no situs inversus

•

en:late onset combined immunodeficiency with allelic variant 102700.0020

•

en:may be x-linked

•

en:lower limb involvement occurs before upper limb involvement

•

en:madelung deformity more frequent and more severe in females

•

en:majority are stillborn or die in early neonatal period

•

en:majority of cases in japan

•

en:majority of patients are ambulatory

•

en:majority of wilms tumors are sporadic

•

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

•

en:many features are present only in an untreated patient

•

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

•

en:maternal imprinting

•

en:may be asymptomatic

•

en:may be lethal in the neonatal period

•

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

•

en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features

•

en:not all patients have facial dysmorphism

•

en:mental development worsens after onset of seizures

•

en:mesomelia becomes more evident with age

•

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

•

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

•

en:most patients die of hepatic failure by 9 months of age

•

en:most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules

•

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

•

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

•

en:neonatal death

•

en:neuropathy becomes apparent in childhood

•

en:neurotransmitter treatment with l-dopa and serotonin or precursors is effective

•

en:normal alleles have 4 to 18 repeats

•

en:normal development between episodes

•

en:normal fertility

•

en:first described in acadian population of louisiana

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6945520 • caches: c1=16 c2=2004 c3=2

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