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familial visceral amyloidosis

Disease Summary
Associated Targets (4)
Tbio

4


GARD Rare
Uniprot Description A form of hereditary generalized amyloidosis. Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system.
Disease Ontology Description An amyloidosis that is characterized by the abdnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys.
Mondo Term and Equivalent IDs
MONDO:0007099:  familial visceral amyloidosis
GARD:0008282: 
MESH:C538249: 
Orphanet:85450: 
SCTID:66451004: 
UMLS:C0268389: