KEGG DISEASE: Familial osteochondritis dissecans

DISEASE: Familial osteochondritis dissecans

Entry

H00448                      Disease

Name

Familial osteochondritis dissecans;
Osteochondritis dissecans, short stature, and early-onset osteoarthritis

Description

Osteochondritis dissecans is defined as a separation of articular cartilage and subchondral bone from the joint surface, affecting the knee, ankle and elbow joints. The disease is caused by heterozygous missense mutation in Aggrecan (ACAN) which is a major cartilage component.

Category

Musculoskeletal disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
15 Diseases of the musculoskeletal system or connective tissue
  Osteopathies or chondropathies
   FB82  Chondropathies
    H00448  Familial osteochondritis dissecans

Gene

ACAN [HSA:176] [KO:K06792]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:18226555

Authors

Stattin EL, Tegner Y, Domellof M, Dahl N

Title

Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature.

Journal

Osteoarthritis Cartilage 16:890-6 (2008)
DOI:10.1016/j.joca.2007.11.009

Reference

PMID:20137779

Authors

Stattin EL, Wiklund F, Lindblom K, Onnerfjord P, Jonsson BA, Tegner Y, Sasaki T, Struglics A, Lohmander S, Dahl N, Heinegard D, Aspberg A

Title

A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.

Journal

Am J Hum Genet 86:126-37 (2010)
DOI:10.1016/j.ajhg.2009.12.018

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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