Le Diko - en:no consistent dysmorphic facial phenotype

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Le Diko - en:no consistent dysmorphic facial phenotype

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en:no consistent dysmorphic facial phenotype

Nom

Informations lexicales

Langue:anglais

Informations sémantiques

source:wiki

Associations d'idées

1000

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

•

en:most patients present in infancy with anemia

•

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

•

en:telangiectases persist in adulthood

•

en:spinal involvement improves with age

•

en:some male patients exhibit some degree of spermatogenesis, hence the designation 'fertile eunuch syndrome' has been used

•

en:skin lesions are primarily trauma-induced but occasionally appear spontaneously

•

en:seizures are easily controlled by medications

•

en:possible defect of a specific lipase in the pathway of free fatty acid oxidation

•

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

•

en:onset between 28 and 42 years

•

en:mental retardation likely secondary to neonatal hypoxia

•

en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism

•

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

•

en:exacerbation of symptoms during or after pregnancy

•

en:episodes last 1 to 2 days

•

en:earliest symptom onset in sixth decade of life

•

en:both autosomal dominant and recessive inheritance can occur

•

en:autosomal recessive inheritance has been suggested

•

en:asymptomatic younger patients show characteristic basal ganglia calcifications

•

en:intrathecal pressure:pressure:point in time:intrathecal space:quantitative

•

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

•

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

•

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

•

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

•

en:most patients do not learn to sit or walk

•

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

•

en:some patients are clinically unaffected.

•

en:some features are variably present

•

en:presentation in early childhood

•

en:prenatal or perinatal death

•

en:possible x-linked dominant inheritance

•

en:onset before adolescence

•

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

•

en:occurs in full-term newborns

•

en:onset between 6 and 15 years

•

en:lifelong occurrence

•

en:death by age 6-7 years

•

en:autosomal dominant inheritance has been reported

•

en:hip girdle involvement precedes and is usually greater than shoulder girdle involvement

•

en:based on a report of 2 unrelated saudi patients (last curated september 2015)

•

en:carrier females have arthralgias in middle age

•

en:death usually in infancy

•

en:episodes tend to decrease with age

•

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

•

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

•

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

•

en:onset between ages 10 and 25 years

•

en:occurs most often among black africans

•

en:non-progressive and more severe progressive forms

•

en:one family with 3 affected individuals has been reported (last curated february 2016)

•

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

•

en:onset age 14-28 years

•

en:onset of seizures before age 2 years

•

en:onset in first decades (males)

•

en:onset in second to third decades (postlingual)

•

en:onset in utero, infancy, or early childhood

•

en:onset of optic neuropathy is usually in early adulthood

•

en:highly variable phenotype with regard to pigmentation

•

en:onset of seizures ranges from 2 to 11 years

•

en:incidence 1 in 30,000 male births

•

en:all reported mutations have occurred de novo

•

en:favorable response to immunotherapy

•

en:facial dysmorphic features may not be present and may become less apparent in adulthood

•

en:encephalopathic episodes associated with increased serum and csf lactate

•

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

•

en:considered a myeloproliferative disorder

•

en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations

•

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

•

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

•

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

•

en:based on one finnish family

•

en:allelic disorder to infantile neuroaxonal dystrophy (256600)

•

en:75% of affected individuals are female

•

en:50% of cases are de novo

•

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

•

en:see also da2b (601680), which is an allelic disorder

•

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

•

en:favorable response to l-dopa treatment

•

en:seizures usually occur in the first months of life

•

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

•

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

•

en:treatment with riboflavin has been helpful in some patients

•

en:symptom onset ranges from infancy to adulthood

•

en:see also recessive deb (226600), an allelic disorder with a more severe phenotype

•

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

•

en:prevalence 1 in 8000

•

en:phenotypic overlap with revesz syndrome (268130)

•

en:onset of sensory neuropathy in later adulthood

•

en:onset of ataxia between 1 and 3 years of age

•

en:one patient died at age 7 years

•

en:one family reported (as of november 2011)

•

en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl)

•

en:mosaic distribution of lesions

•

en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys

•

en:some features are variable

•

en:variable features

•

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

•

en:later onset of hearing loss in some patients

•

en:two complementation groups - pcca (secondary to defects in the alpha chain of pcc, 232000) and pccbc (secondary to defects in the beta subunit of pcc, 232050)

•

en:variable facial dysmorphic features

•

en:age of onset 20-65 years

•

en:ambulation is preserved

•

en:variable response to vitamin b12 therapy

•

en:death may occur in late childhood

•

en:incidence of 1 in 100 in some local nordic areas

•

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

•

en:genetic heterogeneity (see 116800 for summary)

•

en:genetic heterogeneity (see 605407)

•

en:hip replacement in early adulthood

•

en:disease steadily progressive

•

en:seizures and cognitive involvement are variable findings

•

en:seizures remit by age 5 years

•

en:some familial occurrence, most de novo aberrations

•

en:some features not found in all patients

•

en:typically no physical features of albright hereditary osteodystrophy (aho)

•

en:some patients may show normal early development before seizure onset

•

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

•

en:torso and upper body remain normal in shape and contour

•

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

•

en:presence of 4 major features or 3 major and 2 minor features establishes the diagnosis

•

en:accounts for approximately 5% of the epilepsies

•

en:see also griscelli syndrome type 2 (607624) for a similar disorder with characteristic immunologic abnormalities and

•

en:genetic heterogeneity

•

en:onset in late childhood or adulthood

•

en:onset at 6-36 hours of life

•

en:one patient from a consanguineous lebanese family and one patient from a consanguineous kurdish family have been reported (last curated april 2014)

•

en:most cases result from de novo mutations

•

en:increased prevalence in individuals of jewish-iraqi origin

•

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

•

en:genetic heterogeneity (see 192600)

•

en:features occur episodically

•

en:death at 13 to 30 years

•

en:congenital onset or onset before 2 years (prelingual)

•

en:allelic disorder to juvenile nephronophthisis-1 (256100)

•

en:reference lab test reference range:finding:time reported elsewhere:reference lab test:nominal

•

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

•

en:acute neurologic deterioration after viral illness has been reported

•

en:congenital reduction in visual acuity is nonprogressive

•

en:age of onset 5 to 22 years (mean 6.9)

•

en:no situs inversus

•

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

•

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

•

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

•

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

•

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

•

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

•

en:some patients have persistence of seizures to adulthood, but then show remission

•

en:rapidly progressive

•

en:onset early in first decade

•

en:only apparent in patients taking eculizumab

•

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

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en:ocular abnormalities may be very mild

•

en:two alpha-globin genes - 5-prime or alpha-2 and 3-prime or alpha-1

•

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

•

en:dysmorphic features may be subtle

•

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

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

•

en:based on report of 1 large dutch pedigree (last curated july 2015)

•

en:corneal diameter decreases with decreasing axial length

•

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

•

en:earliest age of onset 12 years of age

•

•

en:eye and vestibular findings were found in some members of one family

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en:fracture frequency constant through childhood, decreases after puberty

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

•

en:levodopa-induced dyskinesias

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en:internal organ rupture may occur

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en:prevalence of 1 in 240 zuni indians

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en:presentation after 18 months

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en:patients with atypical form have milder disease, with onset in the first months of life and increased survival

•

en:onset usually in childhood after bcg vaccination

•

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

•

en:onset in infancy or in the first months of life

•

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

•

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

•

en:l-dopa-induced dyskinesias

•

en:deafness is presenting symptom

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en:in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease

•

en:hearing loss may vary in severity and range between ears

•

en:genetic heterogeneity (see bscl1, 608594)

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en:fetal death may occur

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

•

en:diurnal fluctuation

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en:age at onset ranges from 50 to 70 years

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en:adult onset after puberty

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

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

•

en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015)

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en:some patients do not develop stroke

•

en:extrapyramidal signs show a favorable response to levodopa

•

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

•

en:fever of unknown origin

•

en:variable age at onset, from birth to ninth decade

•

en:slowly or nonprogressive

•

en:reported in individuals of jewish moroccan ancestry

•

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

•

en:onset of overgrowth in second to third month of life (in some cases)

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en:onset of hearing loss in late childhood

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en:onset in second decade

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en:most patients become wheelchair-bound

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

•

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

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en:female carriers may have mild hearing impairment

•

en:age of onset ranges from 1 to 47 years

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en:favorable response to sodium chloride treatment

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

•

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:additional developmental abnormalities may be seen in some patients

•

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

•

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

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en:autosomal recessive cases have been reported

•

en:birth incidence approximately 5.1 per million live births

•

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

•

en:reported in a large hutterite family

•

en:onset of proteinuria in the third to fourth decades

•

en:onset of symptoms in fifth decade

•

en:onset usually in the third decade (range 11 to 50 years)

•

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

•

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

•

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

•

en:short limbs become more apparent during childhood

•

en:slowly progressive disease

•

en:some patients have no clinical symptoms and are detected by routine newborn screening

•

en:symptoms usually last 30-60 minutes

•

en:onset in infancy (first hours to weeks of life)

•

en:two siblings of consanguineous turkish parents have been reported

•

en:40 patients in 16 dominant kindreds reported (as of february 2012)

•

en:onset of cardiomyopathy may occur several months after birth

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en:midline defects

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en:one family described (last curated october 2013)

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

•

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

•

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

•

en:cardiac examination is usually unremarkable

•

en:clinical overlap with congenital hypomyelinating neuropathy (chn, 605253)

•

en:dysmorphic features were only reported in 1 patient

•

en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder

•

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

•

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

•

en:initial recovery, but residual neurologic impairment occurs after repeated encephalopathic episodes

•

en:males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces

•

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

•

en:nail changes may be intermittent in some patients

•

en:normal in neonatal period

•

en:occurs on right side in 75% of cases

•

en:adult onset (20 to 40 years)

•

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

•

en:autosomal recessive cytochrome b-negative cgd (233690)

•

en:prevalence in caucasians is 1 in 1,000,000

•

en:onset in late infancy

•

en:overlapping features with barber-say syndrome (209885)

•

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

•

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

•

en:physical features are apparent at birth

•

en:presence of additional features is variable

•

en:prevalence of 1 in 3,000

•

en:onset between 34 and 51 years of age

•

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

•

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

•

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

•

en:unusual cabbage-like odor

•

en:variable heat tolerance

•

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

•

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

•

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

•

en:one patient with unrelated german parents has been reported (last curated february 2016)

•

en:episodes typically last 2 to 5 minutes and occur daily or several times per month

•

en:movements worsened by anxiety

•

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

•

en:death before age 40

•

en:described predominantly in families from the philippines

•

en:early age of onset (mean age at diagnosis, 36 years) most patients have intraocular pressures within the normal range (21 mmhg or less)

•

en:episodes brought on by fasting or infection

•

en:diagnosis made if 3/7 defects are present

•

en:generally static disease course

•

en:median age at onset 23 years

•

en:individuals with the pcs trait are phenotypically normal

•

en:intrafamilial variability in degree of hypotrichosis

•

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

•

en:mean age at onset 32 years

•

en:good response to clonazepam

•

en:no cardiac or immune defects in patients from the 2 reported families

•

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

•

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

•

en:onset before age 2 years

•

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

•

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

•

en:ossification evident 2-8 months following swelling

•

en:risk of sudden death due to cardiac arrhythmias

•

en:most patients have contiguous gene deletion syndrome involving xp22

•

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

•

en:nine patients have been reported in detail (as of 14 june 2011)

•

en:clinical presentation varies

•

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

•

en:most common form of congenital methemoglobinemia

•

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

•

en:genetic heterogeneity (see npc2, 607625)

•

en:exacerbations during infection

•

en:early death (usually by 3 years of age)

•

en:de novo mutation in some cases

•

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

•

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

•

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

•

en:associated with a balanced translocation t(12,22)(p11.2,q13.3)

•

en:severe phenotype onset - neonate

•

en:see also the homozygous state, mosaic variegated aneuploidy (mva, 257300)

•

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

•

en:triggers are variable, even within a family

•

en:incidence of 1 in 100,000

•

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

•

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

•

en:three out of 4 reported patients died (last curated may 2014)

•

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

•

en:skin erythroderma may resolve early, leaving atrophic lesions

•

en:relatively slow progression

•

en:prevalent in sweden

•

en:one boy and 5 unrelated girls have been reported (last curated march 2016)

•

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

•

en:minimum duplication includes bhlha9 (615416)

•

en:increasing hypertension with increasing age

•

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

•

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

•

en:death in first days or months of life

•

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

•

en:blood glucose monitor with integrated lancing/blood sample

•

en:autosomal dominant transmission has been rarely reported

•

en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands

•

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

•

en:death in first weeks of life

•

en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930)

•

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

•

en:global developmental delay

•

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

•

en:onset prenatally or at birth

•

en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa

•

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

•

en:onset after age 20 years

•

en:onset of hearing loss in late childhood or adolescence

•

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

•

en:other variants of waardenburg syndrome include waardenburg syndrome type 2 (193510), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580)

•

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

•

en:retinal hemorrhages usually resolve without sequelae

•

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

•

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

•

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

•

en:spectrum of laterality defects

•

en:leakage of fluid ('gusher') if the stapes is disturbed

•

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

•

en:juvenile absence epilepsy (jae, 607631)

•

en:intrafamilial phenotypic variation may occur

•

en:improvement of abnormal muscle biopsy and cox deficiency

•

en:female carriers may develop mild hearing loss as adults

•

en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures

•

en:death often before age 2

•

en:cutaneous symptoms induced by cold exposure or cooling

•

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

•

en:based on the report of one consanguineous pakistani family (last curated august 2015)

•

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

•

en:fasting status:prthr:pt:^patient:ord:reported

•

en:skin lesions on back, face, nape of neck, and waist tend to be mild

•

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

•

en:symptoms may be exacerbated by pregnancy or trauma

•

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

•

en:vhl type 2a - hemangioblastoma and pheochromocytoma

•

en:type i is infantile-onset, severe

•

en:two subtypes - seminoma and nonseminoma

•

en:spontaneously resolves by 5 to 6 months of age

•

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

•

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

•

en:scalp hair quality improves during pregnancy

•

en:prevalence of 1 in 40,000 among caucasians

•

en:pmp22 (601097) and rai1 (607642) are included in smallest region of overlap

•

en:penetrance 86% by 50 years of age

•

en:onset in utero or in infancy

•

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

•

en:only individuals homozygous for risk or non-risk alleles were studied

•

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

•

en:two japanese patients have been reported (last curated march 2013)

•

en:variable phenotype depending on residual enzyme activity

•

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

•

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

•

en:death occurs in second or third decade

•

en:favorable response to treatment with cholinesterase inhibitors or amifampridine

•

en:highly variable phenotype and severity, even within families

•

en:myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli

•

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

•

en:normal sweat electrolytes

•

en:occasional adult onset

•

en:obligate female carriers may show mild signs of muscle weakness, especially of the face

•

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

•

en:onset in early childhood (age 3)

•

en:onset of bleeding in infancy or early childhood

•

en:reduced fertility

•

en:onset of symptoms often associated with nonspecific febrile illness

•

en:onset usually in first or second decades

•

en:patient with truncating mutations are more likely to develop neurologic abnormalities

•

en:possible x-linked inheritance

•

en:progressive deafness

•

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

•

en:no recurrence of nephrotic syndrome after transplantation

•

en:distinct disorder from galactosemia (230400)

•

en:liver failure episodes associated with fever

•

en:incidence 8/1,000 newborns

•

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

•

en:highly variable phenotype and severity

•

en:genetic anticipation has been observed

•

en:family history of sudden death, as early as fourth decade of life

•

en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015)

•

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

•

en:allelic with cone-rod dystrophy 10 (610283)

•

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

•

en:'shoulder' pattern of temperature-dependent potassium flux (in some patients)

•

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

•

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

•

en:fatal without lung transplant

•

en:severity of phenotype may vary with x-inactivation patterns and/or mutation type

•

en:males are more severely affected than females

•

en:variably expressivity

•

en:variable frequency (daily to monthly)

•

en:types of psoriasis include - plaque, guttate, erythrodermic, pustular

•

en:survival to 20s-60s in iib

•

en:see also dent disease 2 (300555)

•

en:periventricular heterotopia (300049) is an allelic disorder

•

en:patients with adult onset present with psychiatric features

•

en:pancreatic endocrine abnormalities reported in 1 family only

•

en:onset of symptoms in first decade of life

•

en:often refractory to medical therapy

•

en:multiple prenatal fractures

•

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

•

en:onset within first 3 months of life

•

en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea

•

en:characteristic facial features become more apparent with age

•

en:service comment 63:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:genetic heterogeneity (see cmt4b2, 604563)

•

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

•

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

•

en:acral hemorrhagic variant

•

en:allelic disorder to spastic paraplegia-3 (spg3, 182600)

•

en:complete recovery upon treatment of hyperthyroidism

•

en:wasting of the hands is the first and most prominent manifestation

•

en:female predominance (4:1)

•

en:females carriers have more variable age at onset and severity

•

en:females tend to have earlier onset

•

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

•

en:two sibs have been reported (last curated november 2015)

•

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

•

en:two families described (last curated july 2013)

•

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

•

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

•

en:twenty-five percent of affected babies are stillborn

•

en:treatment with tnf inhibitors may be beneficial

•

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

•

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

•

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

•

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

•

en:three families described (last curated january 2014)

•

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

•

en:variable age at onset, ranging from prelingual at birth to fifth decade

•

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

•

en:usually begins in feet and legs (peroneal distribution), but may progress to upper limbs

•

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

•

en:variable cataract phenotypes within a family

•

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

•

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

•

en:variable age at onset of symptoms, ranging from the second to seventh decades of life

•

en:variable age at onset (birth to adult)

•

en:usually affects children

•

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

•

en:type iii is intermediate form

•

en:type ii sialidosis - severe disease, dysmorphic features, variable onset (congenital or hydropic (in utero), infantile (1-12 months), juvenile (2-20 years))

•

en:type ii is progressive and leads to shortened lifespan

•

en:type 3: craniosynostosis, early demise, sporadic

•

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

•

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

•

en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support

•

en:some patients have a severe phenotype with neurologic manifestations beginning at birth

•

en:symptoms usually occur in adults

•

en:skin changes have onset in childhood

•

en:variable phenotype within families

•

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

•

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

•

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

•

en:seizures are refractory

•

en:seizures may remit later in childhood

•

en:seizures tend to occur upon awakening

•

en:seventy percent of cases have associated anomalies

•

en:severe ambulatory restriction

•

en:significant clinical overlap with sotos syndrome (117550)

•

en:simple febrile seizures usually remit by age 6 years

•

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

•

en:skeletal and facial features are variable

•

en:skin and hair abnormalities apparent at birth

•

en:slow progression

•

en:symptoms precipitated by sudden movements

•

en:sporadic occurrence

•

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

•

en:symptoms precipitated by exercise and excitement

•

en:symptoms appear in early childhood and are progressive

•

en:survival to 5-15 years of age

•

en:sudden death secondary to impaction of medulla oblongata

•

en:stage ii, rapid developmental regression (onset 1-4 years)

•

en:spontaneous tumor regression may occur

•

en:some affected family members are asymptomatic

•

en:some patients show rapid disease progression

•

en:some patients require cardiac transplantation

•

en:some patients have an attenuated phenotype

•

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

•

en:some carrier females have mild features

•

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

•

en:variable expressivity, even within families

•

en:associated with iron deficiency anemia

•

en:variable phenotype, some patients have very mild symptoms

•

en:based on report of 4 patients from 1 family (last curated july 2015)

•

en:antibodies can develop after pregnancy or transfusion

•

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

•

en:approximately 50db loss in adulthood

•

en:see also pseudohypoparathyroidism type ia (php1a, 103580)

•

en:ataxia is nonprogressive

•

en:attacks may present during or after sleep

•

en:attacks triggered by catabolic stress, such as fever or illness

•

en:autosomal dominant with incomplete penetrance

•

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

•

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

•

en:based on 1 reported family with oca6

•

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

•

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

•

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

•

en:blistering tends to improve with age

•

en:allelic to several forms of autosomal recessive cmt (see 214400)

•

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

•

en:clonidine can alleviate hyperhidrosis

•

en:clinical variation

•

en:clinical severity varies

•

en:classic severe form shows onset at 2 to 3 months of age

•

en:childhood onset rarely occurs

•

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

•

en:carrier males are fertile

•

en:bone fragility is not apparent at birth, but becomes evident within several months of life

•

en:cardiomyopathy is not a feature

•

en:can be slowly or rapidly progressive

•

en:broad range in severity of presentation in sibships

•

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

•

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

•

en:both autosomal dominant and autosomal recessive inheritance have been reported

•

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

•

en:allelic to multiple pterygium syndrome, lethal type (253290)

•

en:variable severity between patients and between eyes (in some patients)

•

en:adult onset - 100-1,000 repeats

•

en:wide phenotypic variability

•

en:xy karyotype

•

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

•

en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal

•

en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

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

•

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

•

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

•

en:pulse generator system for tympanic treatment of inner ear endolymphatic fluid

•

en:5-10% of patients have a first degree relative with ibd (ulcerative colitis or crohn disease)

•

en:a pair of monozygotic twins have been reported (last curated july 2015)

•

en:a subset of patients improve with thiamine

•

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

•

en:abnormal sensitivity to therapeutic radiation

•

en:adult onset has been rarely reported

•

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

•

en:allelic disorder to benign hereditary chorea (118700), which is less severe

•

en:allelic disorders with overlapping phenotypes include dss, congenital hypomyelination (chn, 605253), and some forms of axonal cmt2 (see 607677)

•

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

•

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

•

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

•

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

•

en:allelic disorder to corticosterone methyloxidase type ii deficiency (610600)

•

en:all reported cases result from de novo mutation (last curated july 2014)

•

•

en:all reported cases have de novo mutations (last curated october 2014)

•

en:all cases have been sporadic

•

en:aggressive malignancies

•

en:age at onset from 3 to 51 years (mean 19.2 years)

•

en:affected males are all result of new mutation

•

en:adult-onset (range early twenties to forties)

•

en:see also pseudopseudohypoparathyroidism (612463)

•

en:onset usually in early childhood (but can range from infancy to adulthood)

•

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

•

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

•

en:mode of inheritance is uncertain

•

en:more frequent in females

•

en:most affected patients die in childhood

•

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

•

en:most common form of bowel obstruction in infancy

•

en:most patients become wheelchair-bound in later childhood

•

en:most patients die in childhood

•

en:most patients require liver transplantation within the first year of life

•

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

•

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

•

en:mutations have been identified in spanish families

•

en:neonatal onset

•

en:neonatal sepsis

•

en:neurologic signs may not be present

•

en:no family history of

•

en:median onset of proteinuria is 18 years (range 10 to 21)

•

en:one family from punjab, india has been reported (last curated august 2014)

•

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

•

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

•

en:one large consanguineous kindred of israeli muslim descent has been reported (last curated may 2015)

•

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

•

en:one han chinese family and one german family have been described (last curated april 2015)

•

en:one family with compound heterozygous slc26a5 mutation has been reported (last curated october 2015)

•

en:one consanguineous italian family has been reported (last curated august 2015)

•

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

•

en:one consanguineous arab family has been reported (last curated april 2015)

•

en:often associated with chiari type i malformation (cm1, 118420)

•

en:normal fertility

•

en:normal development until onset of seizures

•

en:normal alleles contain 6 to 28 repeats

•

en:nonprogressive hepatic form is less frequent

•

en:median survival is > 50 years

•

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

•

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

•

en:limb-girdle muscular dystrophy 1a (lgmd1a, 159000) is an allelic disorder with overlapping clinical features

•

en:highly variable phenotype and age of onset

•

en:homo sapiens do not have a functional l-gulonolactone oxidase gene

•

en:incidence, 1 in 650-1000 live births

•

en:incomplete penetance of some features

•

en:incomplete penetrance with 45 to 51 repeats

•

en:increased frequency among individuals of ashkenazi jewish descent

•

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

•

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

•

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

•

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

•

en:lack of treatment results in early death

•

en:leg pain during childhood

•

en:lesions apparent at birth

•

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

•

en:limited clinical information provided on patients with bbs7 mutations

•

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

•

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

•

en:mean age at termination 3 to 4 years

•

en:mean age at onset of migraines is 42 years

•

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

•

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

•

en:may result in early death

•

en:may progress to other body regions after many years

•

en:maternal oligohydramnios

•

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

•

en:marked phenotypic variability, even within an individual

•

en:many patients lose independent mobility after 25 years

•

en:manifestations continue to appear until 5th decade

•

en:males are more commonly affected than females

•

en:male infertility

•

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

•

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

•

en:one patient reported with col3a1 mutation (120180.0020)

•

en:see also oca1a (203100)

•

en:rapid disease progression

•

en:patients are severely disabled as adults

•

en:patients can have multiple seizure types

•

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

•

en:pavm more frequent in hht1 than hht2

•

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

•

en:precipitating factors include viral illness and pregnancy

•

en:predisposition to neoplasia

•

en:premature aging syndrome

•

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

•

en:prevalence in the finnish population of 5.8 per million

•

en:prevalence of 1 in 150,000

•

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

•

en:prevalent among patients of asian descent, particularly japanese

•

en:protracted disease course

•

en:rapid progression to disability

•

en:part of 'dent disease complex'

•

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

•

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

•

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

•

en:see also autosomal recessive robinow syndrome (268310)

•

en:see also autosomal recessive familial mediterranean fever (fmf, 249100)

•

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

•

en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability

•

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

•

en:rapidly progressive course

•

en:responsive to thiazide diuretics

•

en:repeat tracts may expand as patient ages (somatic instability)

•

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

•

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

•

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

•

en:rare patients with homozygous null mutations have most severe disease

•

en:partial or absent response to steroid treatment

•

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:one patient with a point mutation in the zbtb18 gene has been reported (last curated november 2013)

•

en:onset in young adulthood or adulthood

•

en:one six-generation family from northern china has been reported (last curated august 2015)

•

en:onset 5-30 years

•

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

•

en:onset before age 20

•

en:onset between 6 and 14 years

•

en:onset in early infancy

•

en:onset in first 2 decades of life

•

en:onset in first 6 months of life

•

en:onset in first few years of life

•

en:onset in infancy (1-2 years)

•

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

•

en:onset in second to fifth decade

•

en:onset in teens or early twenties

•

en:onset in third to fifth decade of life

•

en:onset of alopecia in infancy

•

en:overlapping features of digeorge syndrome

•

en:onset usually after viral-like infection

•

en:overlap with tourette syndrome (137580)

•

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

•

en:onset within the first decade of life

•

en:onset usually in first month 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:onset usually at birth

•

en:onset of thrombocytopenia in early childhood

•

en:onset of bone fragility in childhood

•

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

•

en:onset of overgrowth in the first year of life (in most cases)

•

en:onset of lymphedema around puberty

•

en:onset of lipodystrophy later in childhood

•

en:onset of dysmorphic features and developmental delay in infancy

•

en:onset of deafness and diabetes in adulthood

•

en:contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism

•

en:spontaneous resolution usually after 12 months of age

•

en:de novo mutation

•

en:recurrence is possible

•

en:pigmentation not always butterfly-shaped

•

en:possible gonadal mosaicism in one report

•

en:precipitated by mechanical compression or pressure on nerve

•

en:prenatal onset

•

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

•

en:presents at 2 to 3 months of age

•

en:prevalence estimated at 1 in 50,000

•

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

•

en:prevalence of sleepwalking about 3% in adults

•

en:prevalence of true hypoprothrombinemia is 1 in 2 million

•

en:prevalent among the amish

•

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

•

en:progressive disorder that may become stable in young adulthood

•

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

•

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

•

en:phenotypic variation in severity and symptoms

•

en:reduced life expectancy

•

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

•

en:reported in the ohio amish anabaptist community

•

en:resembles intrauterine torch infection but without intrauterine infection

•

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

•

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

•

en:risk of thromboembolic stroke

•

en:see (608328) for a phenotypically similar autosomal dominant form

•

en:see 607731 for an autosomal recessive form

•

en:see also autosomal form, 146450, and another x-linked form, 300633

•

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

•

en:see also infantile (600649) and late-onset (255110) cpt ii deficiency

•

en:see also pseudohypoparathyroidism type ia (103580)

•

en:see also x-linked dominant form (300652)

•

en:pigment does not develop with age

•

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

•

en:seizure onset between 3 and 11 years

•

en:onset usually in first to third decade of life

•

en:onset of disease between 25 and 40 years of age

•

en:onset of hearing loss in childhood

•

en:onset of hearing loss prior to or during adolescence

•

en:onset of hypoglycemia and hyperinsulinism in the neonatal period

•

en:onset of mental impairment in early childhood

•

en:onset of motor disturbances in childhood

•

en:onset of renal dysfunction in early childhood

•

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

•

en:onset of symptoms less than one year

•

en:onset of tumors usually in adulthood

•

en:onset second decade of life

•

en:onset soon after birth

•

en:onset usually associated with febrile illness

•

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

•

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

•

en:patients younger than 30 years complain only that they cannot run fast

•

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

•

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

•

en:patients with recessive mutations have a more severe phenotype

•

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 often require cardiac transplantation

•

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

•

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

•

en:onset usually in second decade of life, although earlier and later onset have been reported

•

en:patients do not exhibit ophthalmoplegia

•

en:patients achieve ambulation

•

en:partially responsive to laser treatment

•

en:pain tends to occur later in the day

•

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

•

en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present

•

en:see entry 104300 for general information on alzheimer disease

•

en:seizures usually remit in adolescence

•

en:onset of crises in early childhood

•

en:variable age at onset (birth to adolescence)

•

en:two unrelated patients have been reported (as of august 2010)

•

en:two unrelated patients have been reported, 1 with normal neurologic development and the other with profound neurologic abnormalities (last curated august 2014)

•

en:two unrelated patients with different phenotypes have been reported (as of march 2012)

•

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

•

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

•

en:ullrich congenital muscular dystrophy (254090) is an allelic disorder with autosomal recessive inheritance and a more severe phenotype

•

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

•

en:upper limb involvement usually occurs later

•

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

•

en:usually death in utero or rarely in neonatal period

•

en:usually occurs in young adults

•

en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years)

•

en:usually sporadic

•

en:uterine leiomyomata are found in hereditary leiomyomatosis and renal cell cancer syndrome (150800)

•

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

•

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

•

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

•

en:worldwide frequency of 1 in 100,000 infants

•

en:walking delay

•

en:waddling gait noted at age 15-20 months

•

en:visual impairment is present at birth and is progressive

•

en:variable severity (in patients with hsan2d)

•

en:variable progression

•

en:variable manifestations

•

en:variable age at onset (range 2 to 59 years, mean 24 years)

•

en:variable extraneurologic features

•

en:variable expressivity, some patients may be clinically asymptomatic

•

en:variable disease severity

•

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

•

en:variable age at onset, ranging from childhood to late adulthood

•

en:variable age at onset, infancy to adulthood

•

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

•

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

•

en:sex ratio - 2.3 males-to-1 female

•

en:survival to advanced age

•

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

•

en:skin abnormalities tend to decrease with age

•

en:slow progression without marked disability

•

en:slow, progressive growth, then stable

•

en:somatic mosaicism has been observed in some patients

•

en:some affected individuals have normal subsequent development

•

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

•

en:some patients experience later reversal of hypogonadotropic hypogonadism

•

en:some patients have a milder nonprogressive phenotype

•

en:some patients show significant clinical improvement with riboflavin supplementation

•

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

•

en:stickler syndrome (108300) and marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss

•

en:sudden death in affected females occurs in the forties

•

en:survival greater than one year rare

•

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

•

en:two unrelated consanguineous families have been reported (last curated january 2016)

•

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

•

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

•

en:two patients required liver transplantation

•

en:triggered by minor head trauma

•

en:tremor is aggravated by low glucose or light

•

en:treatment with oral steroids can restore hearing during episodes of hearing loss and tinnitus

•

en:thyroid carcinoma

•

en:three types of pct: type i (176090) sporadic, presents in adults: types ii and iii (176100) familial, presents in childhood

•

en:symptoms usually resolve without treatment

•

en:three sibs in one consanguineous iranian family have been described (last curated march 2015)

•

en:three sibs born of consanguineous arab parents have been reported (last curated february 2016)

•

en:three patients reported, one with a wdpcp mutation (last curated january 2015)

•

en:thiamine supplementation may be beneficial

•

en:tendency to lighter pigmentation than unaffected relatives

•

•

en:onset of disease 7 months to 3 years

•

en:onset of choreoathetosis in childhood or young adult (6-23 years)

•

en:death in childhood occurs without bone marrow transplantation

•

en:hearing loss occurs in late childhood

•

en:five unrelated patients have been reported (nov. 2009)

•

en:flunarizine treatment may be beneficial

•

en:foot deformities are present in infancy or childhood

•

en:four clinically indistinguishable biochemically distinct forms

•

en:four patients have been reported

•

en:four patients reported (last curated april 2013)

•

en:gene frequency in northwest puerto rico 1 in 18

•

en:genetic heterogeneity (see 161800)

•

en:genetic heterogeneity (see cmt4a 214400)

•

en:genetic heterogeneity (see ebn2 121201, ebn3 608217)

•

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

•

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

•

en:genetic heterogeneity, see fhm1 141500

•

en:hearing loss is usually severe by age 20 years

•

en:heterozygous females more mildly affected than hemizygous males

•

en:first described in the geographically isolated saguenay-lac-saint-jean region of quebec, canada

•

en:hyperkeratosis often present at birth but may appear later

•

en:increased frequency in the dariusleut hutterites (canada)

•

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

•

en:incomplete penetrance (as low as 30% in some cases)

•

en:incomplete penetrance (50%)

•

en:incidence 1 in 300,000 in japan

•

en:immunodeficiency is progressive

•

en:homozygotes have earlier onset and a more severe disorder

•

en:high early mortality rate if untreated

•

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

•

en:highly variable intrafamilial severity

•

en:highly variable clinical phenotype

•

en:highest incidence in men of european descent

•

en:high mortality in infancy and early childhood (in some patients)

•

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

•

en:five unrelated cases have been reported (as of march 2012)

•

•

en:increased risk of post-splenectomy thrombotic complications (in some patients)

•

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

•

en:death in childhood secondary to malabsorption

•

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

•

en:death in early childhood

•

en:death in fourth to fifth decade

•

en:death in infancy in majority of patients

•

en:death in perinatal period

•

en:death occurs 10 to 20 years after onset

•

en:death occurs before 12 months of age due to cardiorespiratory arrest

•

en:death often in the teenage years

•

en:death within several months if untreated

•

en:described in families from galicia, spain

•

en:described in individuals of jewish bukharian descent

•

en:development of afebrile seizures later in childhood

•

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

•

en:duane anomaly is not always present

•

en:families a and b had a more severe phenotype resulting in death in early childhood

•

en:endocrine defects evolve over time

•

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

•

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

•

en:estimated mutation carrier rate of 1 in 350

•

en:estimated incidence of 1 in 17,000

•

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

•

en:epiphyseal stippling is gone by 8 months of age

•

en:early-onset severe renal disease

•

en:dysmorphic facial features may not be present

•

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

•

en:early lethality

•

en:early exhaustion on exertion

•

en:early death without bone marrow transplantation

•

en:early death in patients with cloverleaf skull

•

en:early childhood onset (before age 5 years)

•

en:increased paternal age

•

en:infants occasionally mistaken as having down syndrome

•

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

•

en:onset 8-20 years

•

en:one family and one sporadic case of portuguese descent have been reported (last curated september 2015)

•

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

•

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

•

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

•

en:one family reported (last curated may 2013)

•

en:one family with confirmed cecr1 mutation has been reported (last curated august 2014)

•

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

•

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

•

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

•

en:one patient with episodic ataxia and later onset has been reported (as of june 2010)

•

en:only 13% develop hypertension at 18 years of age or less

•

en:onset 1-70 years of age (95% by early 50's)

•

en:onset 50 to 65 years

•

en:onset 7 to 15 months of age

•

en:onset at birth or in first days or life

•

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

•

en:onset in early childhood or adolescence

•

en:onset of ataxia in early childhood

•

en:onset occurs earlier in males than females

•

en:onset in second or third decades

•

en:onset in first or second decades

•

en:onset in first 8 weeks of life

•

en:onset in early first decade, although some patients have onset at birth or early in infancy

•

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

•

en:onset between 3 and 6 months of age

•

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

•

en:onset in adolescence

•

en:onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family

•

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

•

en:onset between ages 1 to 3 years

•

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

•

en:one consanguineous tunisian family has been reported (last curated june 2015)

•

en:often presents with cranial or cervical involvement

•

en:insidious onset

•

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

•

en:keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca

•

en:liveborn often die within first week of life

•

en:loss of tumor suppressor gene

•

en:lower limb weakness is presenting feature

•

en:lymphedema resolves by age 3 years

•

en:male predominance

•

en:maternal breast milk is protective

•

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

•

en:may occur in adults (also in pregnancy)

•

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

•

en:mean age of diagnosis is 40 years (range 11 to 79 years)

•

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

•

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

•

en:mild disorder

•

en:most become wheelchair-bound late in life

•

en:often confused with tuberous sclerosis (191000)

•

en:neurologic signs last hours to days

•

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

•

en:no skin abnormalities

•

en:no predisposition to skin tumor development

•

en:no opportunistic infections

•

en:ninety percent of cases are female

•

en:neurologic signs onset during adolescence or young adulthood

•

en:nearly 100% penetrance by 60 years of age

•

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

•

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

•

en:mutation in rp9 gene in family (607331.0001) likely not pathogenic

•

en:multiorgan failure may result from hs

•

en:most types show autosomal dominant inheritance

•

en:most patients lose ambulation 2 years after onset

•

en:most common subtype of frontotemporal dementia (600274)

•

en:highly variable intrafamilial expression

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9090792 • caches: c1=6 c2=1002 c3=1

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