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Familial amyloidosis, Finnish type


Other Names for this Disease

  • Amyloidosis, Meretoja type
  • Amyloid cranial neuropathy with lattice corneal dystrophy
  • Amyloidosis V
  • Familial amyloid polyneuropathy type IV
  • Hereditary gelsolin amyloidosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Familial amyloidosis, Finnish type, or gelsolin amyloidosis, is a condition characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin.[1] The 3 main features are amyloid deposits in the cornea (corneal lattice dystrophy), bilateral facial paralysis, and cutis laxa ("sagging" skin). Symptoms generally worsen with age. This condition is inherited in an autosomal dominant manner and is caused by mutations in the GSN gene.[2][1] Treatment generally focuses on specific signs and symptoms. Plastic surgery may relieve problems caused by facial paralysis and cutis laxa.[2]
Last updated: 11/20/2013

References

  1. Lattice corneal dystrophy type II. Genetics Home Reference. April, 2012; http://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-ii. Accessed 11/18/2013.
  2. Tiia Pihlamaa, Sinikka Suominen, Sari Kiuru-Enari. Familial amyloidotic polyneuropathy type IV – gelsolin amyloidosis. Amyloid. June, 2012; 19(S1):30–33. Accessed 11/18/2013.
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Basic Information

  • Amyloidosis Awareness is an illustrated booklet for patients and physicians developed by Amyloidosis Support Groups Inc. Versions of the booklet are also available in Spanish and Portuguese.
  • Genetics Home Reference (GHR) contains information on Familial amyloidosis, Finnish type. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial amyloidosis, Finnish type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Amyloidosis, Meretoja type
  • Amyloid cranial neuropathy with lattice corneal dystrophy
  • Amyloidosis V
  • Familial amyloid polyneuropathy type IV
  • Hereditary gelsolin amyloidosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.