Diko : en:diagnosis within the first 3 months of life

en:diagnosis within the first 3 months of life

Catégories

Nom

Informations lexicales

Langue:anglais

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umls:C1969883

Associations d'idées

[F]

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1000

en:visual and hearing loss are slowly progressive

•

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

•

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

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

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

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

•

en:retinal hemorrhages usually resolve without sequelae

•

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

•

en:prevalence of 1 in 150,000

•

en:precipitated by fever

•

en:penetrance is usually complete by age 65 years

•

en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period

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en:patients are often misdiagnosed with spherocytosis

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en:onset of symptoms in early childhood

•

en:onset between 5 to 28 years of age

•

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

•

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

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en:variable response to acetylcholinesterase inhibitors

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en:age:time:pt:^egg donor:qn

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en:14% of patients survive with polyhydramnios

•

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

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en:death by age 3 years

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en:difficulty walking

•

en:hyperpigmented patches increased in size and number with age

•

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

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en:males carry mutations in the somatic mosaic state

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en:median age at onset is 21 years

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en:most patients lose ambulation 2 years after onset

•

en:no response to phenobarbital

•

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

•

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

•

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

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en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers

•

en:variable presentation

•

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

•

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

•

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

•

en:onset in first decade (range 1 to 7 years)

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en:onset of crises in early childhood

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en:onset of motor disturbances in childhood

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en:patients remain ambulatory

•

en:retinal degeneration not always present

•

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

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en:severe form with onset at 3 to 4 months of age and severe developmental delay

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en:some patients have lethal fetal akinesia with death in utero

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en:survival greater than one year rare

•

en:98% of finnish cases due to one mutation

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en:triggered by minor head trauma

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en:variable age at onset of seizures

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

•

en:three patients from 2 unrelated families have been reported (last curated august 2015)

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en:no phenotype in heterozygotes

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en:corneal diameter decreases with decreasing axial length

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

•

en:allelic disorder to nieman-pick disease type b (607616)

•

en:attacks more common in women

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en:carrier females may have mild features

•

en:childhood onset has been reported

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en:complete recovery upon treatment of hyperthyroidism

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

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en:death in infancy secondary to pulmonary insufficiency

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en:dystonia is usually focal or segmental

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en:familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, 612964)

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en:feet are unaffected in some patients

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

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en:progresses through puberty, then stabilizes

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en:onset of dysmorphic features and developmental delay in infancy

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

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en:phenotypic overlap with munke syndrome (602849) due to a mutation in the fgfr3 gene (p250r, 134934.0014)

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en:prevalence of 1 in 2,833 in zimbabwe

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en:the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists

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

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en:two types - lethal neonatal and less severe, late onset

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en:vast majority of heterozygotes are asymptomatic

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

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en:'second wind' phenomenon

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en:onset of cardiac involvement later, usually after age 20 years and after skeletal muscle involvement

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en:high incidence among old order amish

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en:one palestinian family and one lebanese family have been described (last curated march 2016)

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

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en:neonatal death

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

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en:male-to-female ratio, 1.8 to 1

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

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

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en:early lethality

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en:contractures at birth or difficulties in the neonatal period resolve

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en:childhood onset

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en:based on 2 reported patients (last curated january 2013)

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

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en:age of onset usually 1 week to 2 years

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en:age of onset 23-59 years

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en:2 patients described

•

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

•

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

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en:onset age 32 to 45 years

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

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

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

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en:some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence

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

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

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

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

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en:onset of lymphedema before puberty

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

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en:onset between 12 and 30 years (average 22)

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en:onset at 2 to 15 years

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

•

en:onset 20-55 years of age

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en:does not lead to hepatic failure

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en:autosomal recessive inheritance has been described in 2 families

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

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en:contiguous gene deletion syndrome of 5q31

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en:despite voluminous steatorrhea, patients' growth and overall state of health is good

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en:wheelchair use at 20-30 years

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en:earlier onset associated with faster progression and shorter life span

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en:incidence of 1 in 2,000 in saguenay-lac-saint-jean region

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en:infertility

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en:many patients become wheelchair-bound later in life

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en:mean age of diagnosis 40 years

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

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

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en:some patients show normal development until onset of disorder

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en:prevalence of 1 in 6,000 to 1 in 10,000

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en:seizures may improve with age

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en:shields classification -

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

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en:this patient died at age 8 months

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en:usually occurs in young adults

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en:variable age at onset (range 14 to 50 years)

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en:waddling gait, often presenting sign in second year

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

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

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en:onset of symptoms in childhood

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

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en:may be induced by fever or hot bath

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en:many patients are asymptomatic

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en:increased frequency in the dariusleut hutterites (canada)

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

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en:generally mild phenotype

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en:detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015)

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en:decreased fertility

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

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

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en:associated with smoking

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en:aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia

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

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en:age-dependent penetrance

•

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

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en:death within first year of life in 25%

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

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

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en:variable duration (minutes to hours)

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en:variable clinical features

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en:three affected sibs have been reported

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en:anemia may show favorable response to alpha-interferon treatment

•

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

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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

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

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en:renal dysfunction normalizes in the first year of life

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en:rapidly progressive deterioration (in some patients)

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en:primarily diagnosed in females

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en:possibly x-linked recessive inheritance

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

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en:sudden death in affected males occurs in teens

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en:onset of dystonia at 12 years

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en:genetic heterogeneity (bor2, 610896)

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en:onset of diabetes in teenage years

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en:based on the report of 1 japanese family (last curated july 2014)

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en:females demonstrate lyonization with corresponding phenotypic variation

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en:female carriers may develop mild hearing loss as adults

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en:genetic heterogeneity, see evr2 (305390), evr3 (605750), and evr4 (601813)

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

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en:green color resolves if cholestasis is treated

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en:liver failure episodes cease in later childhood

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en:occurs at age 20-50 years

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

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en:only women have been reported

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en:onset at age 3-5 years

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en:levodopa-induced dyskinesias

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en:sleepwalking triggered by alcohol, sleep deprivation, stress

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en:prelingual onset

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en:postlingual onset

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

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en:onset of parkinsonism in early twenties

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en:onset of hyperuricemia or gout in young adulthood

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

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en:onset between 7 and 18 years

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en:based on report of 2 unrelated girls (last curated august 2015)

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

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

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

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en:female predominance (4:1)

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en:female carriers may show intermittent hematuria

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en:death within 3 months of life

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en:autosomal recessive cytochrome b-positive cgd, type i (233700)

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en:autosomal dominant inheritance has been rarely reported (187800)

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

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en:some patients show improvement in muscle power in the teenage years

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en:some patients have an atypical phenotype with a more protracted disease course resulting in death in middle age

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en:first identified in individuals of cypriot origin

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en:some patients show onset in childhood

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en:increased frequency among japanese and chinese

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en:some families have axonal cmt (cmt2m)

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

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en:onset of muscle weakness in late adulthood

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

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en:normal alleles contain 6 to 28 repeats

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en:most severe type of von willebrand disease

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en:male to female ratio 7:1

•

en:later onset can also occur (up to age 17 years)

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en:onset at 4 to 9 weeks of age

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en:genetic heterogeneity (see, e.g., nys1 310700, nys2 164100, nys4 193003)

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en:variable age at onset (range infancy to young adult)

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en:type i is infantile-onset, severe

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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

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

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

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

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en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect

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

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en:congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision

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

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en:onset in childhood or early adolescence

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en:one consanguineous arab israeli family has been reported (last curated february, 2013)

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

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

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en:only female patients reported (last curated october 2013)

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en:onset between 3 and 11 years of age

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en:seizures tend to remit later in childhood

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en:patients often become wheelchair-bound 3 to 4 decades after onset

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en:patients of brazilian origin have a pure cerebellar atrophy

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en:prevalence estimated at 1 in 86,000

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en:progressive disease

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

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en:symptoms precipitated by exercise and excitement

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en:incidence 7-15% in pacific island populations

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

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

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

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en:cataracts variably present at birth

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en:12% due to epimutation

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en:about 5% of patients have a history of febrile seizures

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

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en:allelic to trichorhinophalangeal syndrome, type iii (trps3, 190351)

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

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en:two families with confirmed adra2b mutations have been reported (last curated june 2015)

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en:chronic disease

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en:headaches last hours to days

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en:conduction defect is progressive

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en:earlier onset associated with increased severity

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

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

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en:four types of cgd with basically identical clinical phenotypes

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en:gait abnormality

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

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

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en:blood glucose monitor with integrated voice synthesizer

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

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en:onset of cataracts in late adolescence

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en:mean age of onset, 5 years

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en:minimal response to surfactant treatment

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en:most cases sporadic

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en:motor delay

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

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en:onset in teenage or young adult years

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en:possible autosomal dominant form 165199 and x-linked form, cmtx5 311070

•

en:incidence 5-50 per million (children) and 10-40 per million (adults)

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en:presence of additional features is variable

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en:symptoms are not relieved by alcohol

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en:two families have been reported (september 2010)

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en:usually occurs in young adulthood

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en:variable features

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

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

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en:type 2n shows autosomal recessive inheritance

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en:hypertension is presenting sign

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en:caused by 55-200 expanded trinucleotide repeats in the fmr1 gene (309550) referred to as a 'premutation'

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

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en:(2) intermittent

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

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

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en:autoimmune manifestations are present in some patients

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en:cases reported in the old order amish and one japanese family (last curated april 2014)

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en:35% of patients have facial dysmorphism

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en:childhood onset (average 4 to 6 years)

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en:high incidence in iraqis and sephardic jewish individuals

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

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en:distinctive and stereotyped sequence of events

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en:female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase

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en:highly variable dysmorphic features

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en:highly variable intrafamilial severity

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en:death occurs early in neonatal period due to respiratory failure

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

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en:neurologic dysfunction is infrequent and associated with delayed diagnosis

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

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en:one family and 2 unrelated patients have been reported (last curated december 2015)

•

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

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en:onset in childhood, adolescence, and adulthood

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

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

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en:onset between 10 and 20 years of age

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en:onset in the second to fourth decades of life

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en:onset in third to fifth decade of life

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en:incidence 2-5% of north american children

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

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en:based on report of 1 family of german ancestry (last curated december 2014)

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en:highly penetrant, but low morbidity

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en:genetic heterogeneity (see sca1, 164000)

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en:genetic heterogeneity, see evr1 (133780)

•

en:frequently death in infancy

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en:founder effect in turkish families

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en:death in utero or in the perinatal period

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en:death in early infancy (in some patients)

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en:colchicine treatment is not effective

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

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en:average age of onset 13 years

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

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en:allelic to neurofibromatosis-1 (nf1, 162200)

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en:15% cases are familial

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en:10% due to paternal deletion

•

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

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en:onset in utero or at birth

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en:some patients may have a more protracted disorder with neurodegeneration

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en:phenotypic variation in severity and symptoms

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en:heterozygotes have mild, transient hypothyroidism in infancy

•

en:some patients show improvement during summer or with fever

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en:seizures remit by age 5 years

•

en:recurrence is possible

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en:patients with null mutations in (ctsd) show a more severe phenotype with onset at birth ('congenital ncl') and early death within days

•

en:onset of hearing loss in first or second decade

•

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

•

en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features

•

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

•

en:increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany

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en:incidence of 1 in 300,000

•

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

•

en:most patients die in childhood

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en:heterozygotes are usually asymptomatic

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en:atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later

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en:some patients acquire late ambulation

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en:four patients have been reported

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en:unusual skill with jigsaw puzzle

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

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en:ataxia is nonprogressive

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en:thrombosis triggered by pregnancy, oral contraceptives, trauma, surgery

•

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

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en:crisis precipitated by high altitude exposure

•

en:death in early infancy

•

en:death in infancy or early childhood

•

en:described in individuals of roma gypsy origin (founder mutation)

•

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

•

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

•

en:odor of 'sweaty feet'

•

en:onset 1-12 years

•

en:onset at 6-36 hours of life

•

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

•

en:onset usually in second decade

•

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

•

en:prevalence of 1 in 10,000 caucasians

•

en:renal anomalies are not always present

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

•

en:treatment with bh4 is effective

•

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

•

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

•

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

•

en:based on 2 reports of 3 patients (last curated september 2012)

•

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

•

en:increased susceptibility to infections

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en:high frequency among french-canadians

•

en:heterozygous mutation carriers may show mild symptoms

•

en:heterozygous female carriers may manifest symptoms

•

en:features intermediate between demyelinating cmt and axonal cmt

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en:favorable response to treatment with coenzyme q10

•

en:existence as a distinct entity is not confirmed

•

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

•

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

•

en:considered to be part of the spectrum of joubert syndrome (213300) and meckel syndrome (249000)

•

en:childhood onset (range birth to 12 years)

•

en:a subgroup of patients with sponastrime dysplasia have severe mental retardation

•

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

•

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

•

en:associated with iron deficiency anemia

•

en:spontaneous tumor regression may occur

•

en:caused by inborn error in bile acid synthesis

•

en:onset usually in first to third decade of life

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en:two sibs died before 2 years of age

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en:subtype of migraine with aura

•

en:deletions occur de novo

•

en:some patients show a favorable response to sulfonylurea treatment

•

en:some patients develop ophthalmoplegia in middle age

•

en:response to zinc supplementation

•

en:pulsatile headache lasts hours to days

•

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

•

en:presents at a later age than sporadic wilms tumor

•

en:patients often have a more severe and complicated phenotype in addition to peo

•

en:painful cramping following ischemic exercise test

•

en:other muscle become involved about 5 years after onset

•

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

•

en:onset in utero or early infancy

•

en:genetic heterogeneity (see 214300)

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

•

en:excessive posttraumatic blood loss

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en:favorable response to sodium chloride treatment

•

en:first described in acadian population of louisiana

•

en:foot deformities are present in infancy or childhood

•

en:fetal death may occur

•

en:genetic heterogeneity (see cmt1b 118200)

•

en:natural aversion to carbohydrates

•

en:highly variable phenotype, ranging from asymptomatic to death by age 3 years

•

en:incidence of 1 in 25,000 livebirths

•

en:increased recurrence risk with parental translocation

•

en:meiotic origin >95% maternal, mostly meiosis i

•

en:genetic heterogeneity (see lgmd1a 159000 for overview)

•

en:most patients become wheelchair-bound in later childhood

•

en:normal alleles have 4 to 18 repeats

•

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

•

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

•

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

•

en:onset at 4 years of age

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en:onset birth to 6 months

•

en:onset typically in childhood although onset in late adolescence or early adulthood has been reported

•

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

•

en:pigmentation not always butterfly-shaped

•

en:more common in males

•

en:contiguous gene duplication syndrome

•

en:incompletely penetrant phenotype in heterozygotes

•

en:highly variable frequency and duration of episodes

•

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

•

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

•

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

•

en:death in perinatal period

•

en:contractures other than plantar are less common and less severe

•

en:average age at onset between 40 and 50 years

•

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

•

en:possible autosomal dominant (165199) and autosomal recessive (258650) forms

•

en:positive family history in 12-33% patients

•

en:genetic heterogeneity (see cftd1, 255310)

•

en:prevalence of 1 in 227 hopi indians

•

en:often associated with klippel-feil anomaly (118100)

•

en:very rare

•

en:variable frequency and duration of episodes

•

en:upper urinary tract usually normal

•

en:treatment with sulfonylurea can be effective

•

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

•

en:therapy-induced dyskinesias

•

en:progressive clinical course with onset in childhood

•

en:onset in infancy or early childhood

•

en:onset before age 3 years

•

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

•

en:median survival 5.7 years

•

en:increased frequency in individuals of asian descent

•

en:hypotonia may respond to treatment with pyridostigmine

•

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

•

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

•

en:variable severity, even within families

•

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

•

en:upper limb involvement usually occurs later

•

en:more frequent in females

•

en:variable age of onset (range early childhood to adult)

•

en:variable involvement of hematologic parameters

•

en:variable clinical phenotype

•

en:variable age of onset of parkinsonism (first decade to adulthood)

•

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

•

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

•

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

•

en:variable age of onset (childhood to adult)

•

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

•

en:variable age at onset (range 9 to 78 years)

•

en:variable number of nails involved

•

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

•

en:variable neurologic phenotype

•

en:service comment 03:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:variable penetrance

•

en:variable presentation and manifestations

•

en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism

•

en:wide clinical variability

•

en:wide spectrum of severity

•

en:miscellaneous

•

en:age at menopause:time:point in time:^patient:quantitative

•

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

•

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

•

en:date ultrasound:date:pt:^patient:qn

•

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

•

en:usually fatal by age 5 years

•

en:service comment 25:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 31:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 37:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:usual onset under age 30 years

•

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

•

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

•

en:service comment 73:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:symptoms usually appear in adulthood

•

en:systemic granulomatous disease

•

en:telangiectases persist in adulthood

•

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

•

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

•

en:those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features

•

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

•

en:three patients in one family have been reported (as of october 2011), and only one mutation carrier exhibited mental retardation and ataxia

•

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

•

en:two families described (last curated november 2013)

•

en:uniparental disomy

•

en:two mother and child pairs have been reported (last curated july 2015)

•

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

•

en:two patients required liver transplantation

•

en:two patients with a wws phenotype have been reported

•

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

•

en:type iiib liver involvement only (15% of all cases)

•

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

•

en:service comment 41:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated february 2016)

•

en:21% of hereditary wilms tumor are bilateral

•

en:cheerful disposition

•

en:based on one patient (last curated february 2015)

•

en:based on report of 1 family with 7 affected members

•

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

•

en:based on report of 2 turkish sisters (last curated july 2015)

•

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

•

en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours

•

en:bone anomalies may be seen on prenatal ultrasound (in some patients)

•

en:can be categorized into 3 groups

•

en:can be effectively treated with n-carbamylglutamate

•

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

•

en:carrier females may present with postpartum hyperammonemia

•

en:carrier frequency 1:200,000 in france

•

en:carrier frequency in finland 1/40

•

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

•

en:based on detailed clinical description of 1 family

•

en:clinically unaffected heterozygotes may show changes on electroretinography

•

en:clinical and pathologic features of both demyelinating and axonal cmt

•

en:clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets)

•

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

•

en:clinical overlap with dejerine-sottas syndrome (dss, 145900)

•

en:complementation group c (variant mliii, 252605)

•

en:compound heterozygosity common

•

en:contractures most severe by midadolescence

•

en:cutaneous leiomyomas increase in number over time

•

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

•

en:death at 13 to 30 years

•

en:death between 2 years of age and young adulthood

•

en:death by age 2 years

•

en:death by age 5 (infantile form)

•

en:based on one large north american family (last curated august 2015)

•

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

•

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

•

en:allelic disorder to osteoporosis-pseudoglioma syndrome (oppg, 259770)

•

en:75% of affected individuals are female

•

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

•

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

•

en:adrenal insufficiency usually develops later (first decade)

•

en:adult onset (mean of 30 years)

•

en:adult onset (range 34 to 66 years)

•

en:affected males are all result of new mutation

•

en:age at onset can range from infancy to childhood

•

en:age of onset 17 to 68 years (mean 39)

•

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

•

en:age of onset from 10 to 40 years

•

en:allelic disorder to autosomal recessive form (224900)

•

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

•

en:allelic disorder to stickler syndrome 3 (184840)

•

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

•

en:allelic to aicardi-goutieres syndrome (225750)

•

en:allelic to rett syndrome (312750)

•

en:allelic to spondyloepimetaphyseal dysplasia, matn-3 related (608728)

•

en:allelic to wiskott-aldrich syndrome (301000) and x-linked thrombocytopenia (313900)

•

en:all cases have been stillborn or immediate neonatal death

•

en:anemia is transfusion-dependent

•

en:approximately 85% of type ii patients are homozygous for a missense mutation m136t (102600.0003)

•

en:approximately half of the mutations are de novo

•

en:associated with fragile x syndrome (309550)

•

en:associated with untreated phenylketonuria (261600)

•

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

•

en:attacks precipitated by drugs, alcohol, and endocrine factors (hcp)

•

en:attacks typically last for minutes

•

en:axial skeleton most commonly affected

•

en:symptoms precipitated by sudden movements

•

en:ptosis is usually presenting feature

•

en:symptoms can be prevented by strict dietary restriction

•

en:onset of encephalopathy between ages 2 and 3 years

•

en:onset early childhood

•

en:onset from first to third decades of life

•

en:onset in early childhood (age 3)

•

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

•

en:onset in late infancy

•

en:onset in males in first to third decade

•

en:onset in mid to late childhood

•

en:onset in second and third decades of life

•

en:onset in second decade, but sometimes earlier

•

en:onset in utero, infancy, or early childhood

•

en:onset of acne in adolescence, persists into adulthood

•

en:onset of choroideremia in second to third decade

•

en:onset of disease before 7 years of age

•

en:onset of hearing loss in first decade of life

•

en:onset age 2 to 7 years

•

en:onset of illness often associated with acute infection

•

en:onset of muscle weakness around age 5 years

•

en:onset of neurologic disease in early adulthood

•

en:onset of optic atrophy in first decade

•

en:onset ranges from early childhood to adulthood (usually before age 15)

•

en:onset usually after viral-like infection

•

en:onset usually in childhood (range infancy to late childhood)

•

en:onset usually within first weeks of life

•

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

•

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:patients exhibit no signs of ocular or cutaneous albinism

•

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

•

en:onset before age 5 years in the absence of instruction

•

en:onset 2-4 years of age in iia

•

en:patients older than 60 years have severe degenerative arthritis in the feet

•

en:no dysmorphic features

•

en:death in childhood is frequent due to respiratory failure

•

en:most cases are caused by mutation in the phox2b gene

•

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

•

en:most common muscle disease of older persons

•

en:most patients die of renal failure in early adulthood

•

en:most patients have de novo mutations

•

en:murcs association

•

en:myoclonus is presenting symptom

•

en:narcolepsy and deafness are the first symptoms

•

en:neuropathy becomes apparent in childhood

•

en:nonsyndromic disorder

•

en:normal development in first 6-12 months, followed by facial coarsening and progressive delay in physical and mental development

•

en:normal neonatal course

•

en:occurs in full-term infants

•

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

•

en:occurs on right side in 75% of cases

•

en:often lethal in infancy

•

en:one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015)

•

en:one family (4 affected members) has been reported (last curated july 2012)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:one patient showed improvement and was thriving at 46 months of age

•

en:one patient was asymptomatic and detected by neonatal screening

•

en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015)

•

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

•

en:patients present with groin pain

•

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

•

en:slow or nonprogressive

•

en:see also mmab (251110)

•

en:seizures and dystonia peak during childhood

•

en:seizures are often refractory

•

en:seizures are usually refractory at first

•

en:seizures may remit in adolescence

•

en:seizures remit spontaneously by age 5 years

•

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

•

en:serum triglycerides decrease with age

•

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

•

en:significant phenotypic variability

•

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

•

en:slightly increased female:male ratio (1.4:1 to 2:1)

•

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

•

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

•

en:some features are variably expressed

•

en:some features not found in all patients

•

en:some patients can attend special school

•

en:some patients develop diabetes mellitus as adolescents

•

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

•

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

•

en:some patients have milder persistent blistering

•

en:some patients respond to acetazolamide

•

en:some people with a cnnm2 mutation are asymptomatic

•

en:subset of patients have french-canadian leigh syndrome (220111)

•

en:survival 30 to 40 years after onset

•

en:survival to 20s-60s in iib

•

en:surviving infants develop severe nonbullous ichthyosiform erythroderma

•

en:risk of sudden death

•

en:patients show sorbitol and glycerol intolerance

•

en:prenatal or perinatal lethality in hemizygous males

•

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

•

en:pedigrees compatible with autosomal dominant inheritance have been reported

•

en:persistent bleeding after trauma

•

en:phace is an acronym for posterior fossa brain malformation, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities

•

en:phenotype is classically defined as aplasia cutis and transverse limb defects

•

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

•

en:phenotypic variation

•

en:possible autosomal recessive form 258650 and x-linked form cmtx5 311070

•

en:possible increase of aneuploidy in offspring

•

en:possibly allelic to cohen syndrome (216550)

•

en:predisposition to neoplasia

•

en:predominantly occurs in young males with high rate of atopic disease

•

en:prenatal diagnosis available

•

en:presentation between 6-18 months

•

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

•

en:presents at a later stage than sporadic wilms tumor

•

en:present in jewish yemenite population

•

en:prevalence approximately 1 in 4,000 males

•

en:prevalence of 1 in 3,000

•

en:prevalence of 7 in 100,000 live births

•

en:prevalence of essential tremor ranges from 0.4 to 6% in the general population

•

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

•

en:progression in adulthood

•

en:quinidine therapy may be effective

•

en:range of onset 11 to 50 years

•

en:rare adult cases reported

•

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

•

en:recurrent episodes of liver failure during intercurrent infections

•

en:reported in a large hutterite family

•

en:death from stroke if untreated

•

en:two probands have been reported

•

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

•

en:rapidly progressive (6-24 months)

•

en:patients may require implantable cardioverter defibrillators

•

en:patients need lifelong total parenteral nutrition

•

en:patients retain ambulation even after long disease course

•

en:persistent exposure to fructose leads to chronic liver and kidney complications

•

en:phenotypic variability

•

en:pigmented spots appear in infancy through childhood and fade in adulthood

•

en:prenatal onset

•

en:prenatal or perinatal death

•

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

•

en:prevalence of 1 in 3,900 in south africa

•

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

•

en:progressive disorder regarding both neurologic and renal symptoms

•

en:progressive skeletal dysplasia

•

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

•

en:onset within first 3 months of life

•

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

•

en:relationship of rare neuropsychiatric signs to histidinemia is unclear

•

en:relatively benign course after acute episodes in childhood

•

en:relatively slow progression

•

en:reported in individuals of amish or mennonite descent

•

en:reported in individuals of jewish moroccan ancestry

•

en:resembles intrauterine torch infection but without intrauterine infection

•

en:responsive to oral mannose therapy

•

en:risk of sudden death in childhood due to cardiac arrest

•

en:scalp hair quality improves during pregnancy

•

en:see also hmn2b (608634)

•

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

•

en:onset usually in late adolescence or early adulthood (range 15 to 45 years)

•

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

•

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

•

en:onset between 28 and 42 years

•

en:onset between 3 and 6 months of age

•

en:onset from birth

•

en:onset in adolescence or adulthood

•

en:onset in childhood or early adulthood

•

en:onset in early childhood or adolescence

•

en:onset in first 2 decades

•

en:onset in first or second decades

•

en:onset in infancy and third decade had been reported

•

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

•

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

•

en:onset in late teens to early forties

•

en:onset in late twenties

•

en:onset in third to fourth decade

•

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

•

en:onset late childhood

•

en:onset of cardiac symptoms in adolescence

•

en:onset of disease 3-30 years

•

en:onset of disease around 10 years of age

•

en:onset of edema in childhood

•

en:onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade

•

en:onset of mental impairment in early childhood

•

en:onset of osteoarthritis in teens to early adulthood

•

en:onset of parkinsonism in first decade

•

en:onset of seizures between 2 and 5 years

•

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

•

en:onset of symptoms in second decade of life

•

en:onset soon after birth or within the first year of life

•

en:onset usually before age 10 years

•

en:seizures remit in later childhood

•

en:severe phenotype onset - neonate

•

en:onset before 18 months of age

•

en:upper limb involvement occur later

•

en:triggered by use of antibiotics (24% of cases) and nonsteroidal antiinflammatory drugs (18% of cases)

•

en:tumor predisposition syndrome

•

en:twelve or more lesions per eye in individuals over 60 years of age

•

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

•

en:two consanguineous pakistan families have been described

•

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

•

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

•

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

•

en:two patients have been reported

•

en:two subtypes noninflammatory type a and inflammatory type b

•

en:urine turns dark on standing and alkalinization

•

en:treatment with riboflavin has been helpful in some patients

•

en:variable age at onset, infancy to adulthood

•

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

•

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

•

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

•

en:variable age of onset (childhood to adulthood)

•

en:variable disease severity

•

en:variable expression

•

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

•

en:variable expressivity, some patients may be clinically asymptomatic

•

en:variable onset, from infancy to young adulthood

•

en:variable presentation of clinical features

•

en:variable response to steroid treatment

•

en:virtually all patients with this condition are female

•

en:tremor is aggravated by emotional stress

•

en:treatment with oral coenzyme q may ameliorate symptoms

•

en:short stepped shuffling gait

•

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

•

en:single umbilical artery

•

en:six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated april 2016)

•

en:six patients from 1 saudi arabian family have been reported (last curated december 2011)

•

en:skin appears normal at birth, with development of generalized ichthyosis in childhood

•

en:skin erythroderma may resolve early, leaving atrophic lesions

•

en:some patients are clinically unaffected.

•

en:some patients do not have bone disease

•

en:some patients do not reach end-stage renal failure

•

en:some patients exhibit features of more than 1 type of cardiomyopathy

•

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

•

en:some patients report cyclical changes in severity of symptoms

•

en:some patients show significant clinical improvement with riboflavin supplementation

•

en:some pedigrees are consistent with autosomal dominant inheritance

•

en:survival to advanced age

•

en:treatment with enzyme replacement therapy

•

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

•

en:symptoms develop immediately after birth

•

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

•

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

•

en:symptoms usually induced only by strenuous exercise

•

en:symptoms vary from asymptomatic patients to patients with metabolic acidosis

•

en:the presence of an hspa9 variant (dbsnp rs10117) in trans may be required for expression of the clinical phenotype (pseudodominant inheritance)

•

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

•

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

•

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

•

en:treatment with coq10 may result in some clinical improvement

•

en:onset before age 5 years

•

en:onset at 4 to 10 years

•

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

•

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

•

en:generally considered to be a benign disorder

•

en:genetic anticipation has been observed

•

en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930)

•

en:genetic heterogeneity, see cild1 (244400)

•

en:genetic heterogeneity, some patients not linked to fgfr3

•

en:genetic heterogeneity (see 601680)

•

en:genetic heterogeneity (see cmt4a 214400)

•

en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900)

•

en:genetic heterogeneity (see mcc1 deficiency 210200)

•

en:glucocorticoid deficiency occurs in mid-childhood

•

en:good response to fibrinolytic inhibitors

•

en:greater expression in females

•

en:hair, nails, and teeth are normal

•

en:hearing loss is progressive and initially affects high-frequencies

•

en:fractures often heal without deformity

•

en:hearing loss was progressive in some patients

•

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

•

en:heterozygous females may exhibit variable degrees of enzyme deficiency

•

en:heterozygous mutations reported, see 606609.0006 and 606609.0007

•

en:highest incidence in men of european descent

•

en:hyperkeratosis triggered by chronic mechanical irritation

•

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

•

en:incidence of 1 in 100,000 births

•

en:incidence of 1 in 250,000 births

•

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

•

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

•

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

•

en:incomplete penetrance of optic atrophy

•

en:frequently fatal within the first year of life

•

en:fractures decrease after puberty but increase after menopause

•

en:increased bleeding after surgery

•

en:episodes are triggered by cold exposure

•

en:death in neonatal period

•

en:death occurs 5 to 10 years after onset

•

en:death usually in teenage years

•

en:delayed separation of umbilical cord

•

en:diagnosis made if 3/7 defects are present

•

en:discordant phenotype among monozygotic twins has been reported

•

en:disease is nonprogressive in most patients

•

en:diurnal fluctuation of symptoms

•

en:early death in the first few weeks of life

•

en:early onset (1 month to 4 years)

•

en:early onset of symptoms

•

en:elevated body temperatures to 42 degrees celsius

•

en:enterocolitis tends to remit with age

•

en:episodes last from several hours to days

•

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

•

en:estimated prevalence of 1 in 16,000

•

en:exercise intolerance often evident in childhood

•

en:eye involvement begins at birth, neurologic involvement begins later

•

en:familial form

•

en:fatal without lung transplant

•

en:favorable response to oral creatine treatment

•

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

•

en:features may be bilateral (15/24) or left side (9/24)

•

en:features usually appear during adulthood

•

en:female carriers may have mild hearing impairment

•

en:female carriers may show mild learning disabilities

•

en:female preponderance

•

en:five patients from 3 unrelated families have been reported (last curated september 2015)

•

en:increased abortuses of homozygous or compound heterozygous fetuses

•

en:increased frequency in ashkenazi jewish population

•

en:onset after age 40 years

•

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

•

en:normal fertility

•

en:not all patients have renal involvement

•

en:not responsive to biotin treatment

•

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

•

en:no clinical description given for 1 reported patient (last curated december 2013)

•

en:no extraocular findings

•

en:no history of familial hypercholesterolemia

•

en:no laterality defects

•

en:occurs in 1 in 50,000 newborn males

•

en:occurs in women and is triggered by pregnancy or estrogen therapy

•

en:often refractory to medical therapy

•

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

•

en:one consanguineous family with a recessive mutation has been reported (last curated june 2015)

•

en:one family and an unrelated patient have been reported (last curated january 2016)

•

en:nonsyndromic

•

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

•

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

•

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

•

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

•

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

•

en:one family with a deletion upstream of the lmnb1 gene did not have autonomic symptoms or cerebellar involvement

•

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

•

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

•

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

•

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

•

en:one patient has been reported (last curated march 2016)

•

en:one report of a mother who was mosaic for ring chromosome 14 transmitting it to her 2 sons

•

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

•

en:onset 50 to 65 years

•

en:normal alleles have 25 to 44 repeats

•

en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected

•

en:increased risk of early death

•

en:majority of cases are sporadic, some autosomal dominant families have been described

•

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

•

en:inheritance pattern is unclear

•

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

•

en:isolated cases

•

en:itch, pain, and body malodor often

•

en:joint replacement often necessary

•

en:juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity

•

en:later onset (late childhood to young adult) has been reported

•

en:lesions apparent at birth

•

en:lesions grow and spread with age

•

en:lesions may become more prominent with sun exposure

•

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

•

en:majority of cases are secondary to de novo mutation

•

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

•

en:neurologic signs are present in the neonatal period only

•

en:many patients become wheelchair-bound

•

en:many patients require cardiac pacemakers

•

en:may show good response to levodopa

•

en:mild facial dysmorphism is associated with duplication of the flna gene

•

en:mild phenotype

•

en:mild symptoms may occur in teenage years

•

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

•

en:most common terminal deletion syndrome

•

en:most patients become wheelchair-bound in the second or third decades

•

en:most patients die within the first year of life

•

en:mousy odor

•

en:myoclonus occurs at rest and with action

•

en:neonatal or infant death

•

en:neonatal severe hyperparathyroidism in homozygotes (239200)

•

en:more common in men than women

◀

Génériques

[F] [H]

›

en:diagnosis

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6945756 • caches: c1=34 c2=1224 c3=19

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