Preferred Label : Familial Amyloid Polyneuropathy Type IV;
NCIt synonyms : Familial Amyloidosis of Finnish Type; Meretoja Syndrome; AGel Amyloidosis; Finnish Hereditary Amyloidosis; Hereditary Gelsolin Amyloidosis;
NCIt related terms : Familial amyloid neuropathy, Finnish type;
NCIt definition : An autosomal dominant inherited form of familial amyloid neuropathy caused by mutation(s)
in the GSN gene, encoding gelsolin. It is characterized by lattice corneal dystrophy,
cranial neuropathy, bulbar signs, and skin changes.;
Origin ID : C217406;
Has associated anatomic sites
- disease_mapped_to_gene
