Finnish type amyloidosis

Finnish type amyloidosis
Classification and external resources

Diagram depicting gelsolin and the amyloid protein derived from it because of mutations in codon 187 of the GSN gene
ICD-10 H18.5
ICD-9 277.3
OMIM 105120
DiseasesDB 32688

Finnish type amyloidosis is a form of amyloidosis associated with gelsolin.[1] Lattice corneal dystrophy type II (LCDII) is a part of the clinical picture in this amyloidosis, unlike LCDI, in which pathology is limited by corneal tissue.

Presentation

Associated conditions include cutis laxa[2] and ataxia.[3]

References

  1. ^ de la Chapelle A, Kere J, Sack GH, Tolvanen R, Maury CP (July 1992). "Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family". Genomics 13 (3): 898–901. doi:10.1016/0888-7543(92)90182-R. PMID 1322359. http://linkinghub.elsevier.com/retrieve/pii/0888-7543(92)90182-R. 
  2. ^ Kiuru-Enari S, Keski-Oja J, Haltia M (February 2005). "Cutis laxa in hereditary gelsolin amyloidosis". Br. J. Dermatol. 152 (2): 250–7. doi:10.1111/j.1365-2133.2004.06276.x. PMID 15727635. http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0007-0963&date=2005&volume=152&issue=2&spage=250. 
  3. ^ Tanskanen M, Paetau A, Salonen O et al. (March 2007). "Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: a case report". Amyloid 14 (1): 89–95. doi:10.1080/13506120601116393. PMID 17453628. http://www.informaworld.com/openurl?genre=article&doi=10.1080/13506120601116393&magic=pubmed. 
Epithelial and Subepithelial
Epithelial basement membrane dystrophy (OMIM 121820), called a corneal dystrophy but in reality this condition is not inherited in the majority of cases, representing a non-specific reaction to a variety of corneal insults. · Subepithelial mucinous corneal dystrophy · Meesmann juvenile epithelial corneal dystrophy (MECD, Stocker-Holt dystrophy, OMIM 122100) · Lisch epithelial dystrophy · Gelatinous drop-like corneal dystrophy
Bowman layer
Reis-Bucklers corneal dystrophy (CDB1) aka. Granular corneal dystrophy type III · Thiel-Behnke dystrophy (CDB2)
Stroma
Descemet membrane and Endothelial

M: EYE

anat(g/a/p)/phys/devp/prot

noco/cong/tumr, epon

proc, drug(S1A/1E/1F/1L)
Common amyloid forming proteins
Systemic amyloidosis
Organ-limited amyloidosis