Hereditary ATTR Amyloidosis

Preferred Label : Hereditary ATTR Amyloidosis;

NCIt synonyms : Familial Transthyretin Amyloidosis; Variant ATTR Amyloidosis; Variant Transthyretin Amyloidosis; hATTR; Familial ATTR Amyloidosis; Hereditary Transthyretin Amyloidosis;

NCIt definition : An autosomal dominant hereditary disorder caused by mutations in the TTR gene. These mutations alter the structure of transthyretin protein, affecting its ability to form tetramers. The tetramers break down and form strands of amyloid fibrils. The fibrils clump together and form amyloid deposits in tissues, causing irreversible damage. Forms of ATTR amyloidosis include neuropathic, cardiac, and leptomeningeal, which primarily affects the central nervous system.;

NCI Metathesaurus CUI : CL1928295;

Details

Origin ID

C205629;

disease_has_finding
- ATTR Amyloid Deposition [NCIt concept]
- Amyloid Deposition [NCIt concept]
- Apple Green Dichromism Present in Polarized Congo-Red Stained Sections [NCIt concept]
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- TTR Gene Mutation [NCIt concept]
disease_mapped_to_gene
- TTR Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- TTR Gene [NCIt concept]
- TTR wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients