familial dysautonomia

familial dysautonomia
familial dysautonomia n a disorder of the autonomic nervous system that is inherited as an autosomal recessive trait, typically affects individuals of eastern European Jewish ancestry, and is characterized esp. by multiple sensory deficits (as of taste and pain), excessive sweating and salivation, lack of tears, difficulty in swallowing, corneal ulceration, dysarthria, orthostatic hypotension, episodic vomiting, and emotional instability

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an autosomal recessive disease of childhood caused by mutations in the IKBKAP gene (locus: 9q31), which encodes a protein involved in transcription and possibly other cell functions. It is characterized by defective lacrimation, skin blotching, emotional instability, motor incoordination, total absence of pain sensation, and hyporeflexia; seen almost exclusively in Ashkenazi Jews. Called also familial autonomic dysfunction, Riley-Day syndrome, and hereditary sensory and autonomic neuropathy type III.

Medical dictionary. 2011.

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  • dysautonomia — Abnormal functioning of the autonomic nervous system. [dys + G. autonomia, self government] familial d. [MIM*223900] a congenital syndrome with specific disturbances of the nervous system and aberrations in …   Medical dictionary

  • type III — familial dysautonomia …   Medical dictionary

  • Disautonomía familiar — Familial dysautonomia Clasificación y recursos externos CIE 10 G90.1 CIE 9 742.8 OMIM …   Wikipedia Español

  • FD — • familial dysautonomia; • family doctor; • fan douche; • fatal dose; • fetal danger; • fibrin derivative; • fibrous dysplasia; • floppy disk; • focal distance; • Folin Denis [assay]; • follicular diameter; • foot drop; • forceps delivery; •… …   Dictionary of medical acronyms & abbreviations

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  • Hereditary sensory and autonomic neuropathy — For the gene HSN2, see HSN2. Not to be confused with Hereditary motor and sensory neuropathy. Hereditary sensory and autonomic neuropathy Classification and external resources ICD 9 356.2 OMIM …   Wikipedia

  • IKBKAP — protein Name = Inhibitor of κ light polypeptide gene enhancer in B cells, kinase complex associated protein caption = width = HGNCid = 1874 Symbol = IKBKAP AltSymbols = FD, DYS, ELP1, IKAP, IKI3, TOT1, FLJ12497 and DKFZp781H1425 EntrezGene = 8518 …   Wikipedia

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