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Finnish type amyloidosis

Disease Summary
Associated Targets (8)
Tbio

5

Tchem

2

Tclin

1


GARD Rare
Uniprot Description A hereditary generalized amyloidosis due to gelsolin amyloid deposition. It is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure.
Disease Ontology Description An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptoms corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa.
Mondo Term and Equivalent IDs
MONDO:0007097:  Finnish type amyloidosis
GARD:0002339: 
MESH:C537459: 
Orphanet:85448: 
SCTID:419398009: