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familial visceral amyloidosis

MIM.105200

Tuesday 22 April 2008

Systemic nonneuropathic amyloidosis is the result of mutation in the apolipoprotein A1 gene (APOA1) (MIM.107680), the fibrinogen alpha-chain gene (FGA) (MIM.134820), the lysozyme gene (LYZ) (MIM.153450), and perhaps other genes.

The familial visceral amyloidoses constitute a group of autosomal dominant diseases in which a mutant protein forms amyloid fibrils beginning in midlife.

Types

- familial visceral amyloidosis (amyloidosis type 8) (MIM.105200)

Etiology

- APOA1-associated amyloidosis (apolipoprotein A-I)
- lysozyme-associated amyloidosis (LYZ-associated amyloidosis or amyloidosis type 8) (MIM.105200)
- FGA-associated amyloidosis

Lysozyme (LYZ) consists of a single polypeptide with a predominantly helical structure. Four pathogenic variants of lysozyme have been reported; a fifth variant, Thr70Asn, is apparently not pathogenic.

See also

- amyloidoses