Diko : en:no situs inversus

en:no situs inversus

Catégories

Nom

Langue:anglais

Liens externes

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umls:C3809640

Associations d'idées

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50+

en:z allele most common, only in caucasians

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

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en:plasma cholinesterase measurement

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en:onset of hearing loss in late childhood or adolescence

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

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en:one family has been reported (as of curation date may, 2013) onset in infancy

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

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en:mean age at onset 45 years

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en:manifestations present in second decade of life

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en:male to female ratio 7:1

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en:good response to gaba-enhancing medications

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en:dystonia is usually focal or segmental

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en:see also x-linked edmd (310300)

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en:compound heterozygosity common

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en:autosomal recessive and dominant pedigrees described

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en:autosomal dominant inheritance has been reported

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en:aortic dissection may occur in second decade of life

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en:all cases from a remote village, sabinas, in northern mexico

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en:age of onset usually 1 week to 2 years

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

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

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en:variable penetrance and expressivity

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en:progression of the disorder is precipitated by viral symptoms

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en:juvenile form has onset between 4 and 19 years

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

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en:mild symptoms may occur in teenage years

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en:seizures tend to occur upon awakening

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

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en:survival to advanced age

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en:some patients do not have dysmorphic features

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en:some families have axonal cmt (cmt2m)

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en:see also muckle-wells syndrome (191900), an allelic disorder with overlapping features

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

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en:only 10% develop hypertension at 18 years of age or less

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en:one family with 2 affected fetuses has been reported (as of august 2011)

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en:no family history of

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

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en:levodopa-responsive

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en:early-onset associated with more severe course and early death

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

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en:diagnosis in the second decade of life

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

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en:80% cases new mutations

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en:early death (in some patients)

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en:early lethality

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

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en:incidence of 1/50,000 births

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en:onset in early infancy, between 2 weeks and 3 months

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en:peritoneal hemorrhage adverse event

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

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Génériques

[F] [H]

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* en:no

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6935951 • caches: c1=122 c2=1352 c3=740

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