Hereditary Transthyretin Amyloidosis with Polyneuropathy

Preferred Label : Hereditary Transthyretin Amyloidosis with Polyneuropathy;

NCIt synonyms : Hereditary Amyloidogenic Transthyretin Amyloidosis with Polyneuropathy; hATTR-PN; TTR-FAP; Transthyretin Familial Amyloid Polyneuropathy; ATTRv-PN; Variant Transthyretin Amyloidosis with Polyneuropathy;

NCIt definition : A rare, progressive, autosomally dominant inherited peripheral neuropathy caused by mutations in the TTR gene encoding transthyretin (prealbumin). It is characterized by deposition of amyloid fibrils in the peripheral nervous system.;

NCI Metathesaurus CUI : CL1907112;

Details

Origin ID

C200299;

Has associated anatomic sites
- Nervous System [NCIt concept]
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- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
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- TTR Gene Mutation [NCIt concept]
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- TTR Gene [NCIt concept]

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