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GTR Home > Conditions/Phenotypes > Familial amyloid polyneuropathy, Iowa type

Familial amyloid polyneuropathy, Iowa type

Synonyms
AMYLOIDOSIS, HEREDITARY SYSTEMIC 3; AMYLOIDOSIS, IOWA TYPE; AMYLOIDOSIS, TYPE III; AMYLOIDOSIS, TYPE IV; AMYLOIDOSIS, VAN ALLEN TYPE; Amyloid polyneuropathy-nephropathy, Iowa type; Familial amyloid polyneuropathy type III

Summary

Hereditary amyloidosis is an autosomal dominant disorder in which amyloid deposition occurs in various tissues. Hereditary systemic amyloidosis-3 (AMYLD3) is characterized by a wide clinical spectrum including amyloid neuropathy, nephropathy, hepatopathy, and cardiomyopathy. Amyloid deposition can also occur in skin, larynx (resulting in hoarseness), and testis (resulting in infertility) (summary by Hamidi Asl et al., 1999, Lachmann et al., 2002). For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (105210). [from OMIM]

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