| H00824 | |
| H number | H00824 |
| Name | Calcification of joints and arteries |
| Description | Calcification of joints and arteries is a condition in which calcifications of the lower-extremity arteries and articular capsules of hand and foot occur. Affected individuals harbor mutations in NT5E encoding CD73 that converts AMP to adenosine. |
| Category | Cardiovascular disease |
| Network | - |
| Gene | NT5E [HSA:4907] [KO:K19970] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: BD52.Y MeSH: C565891 OMIM: 211800 |
| Reference | PMID:21288095 AUTHORS St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M TITLE NT5E mutations and arterial calcifications. JOURNAL N Engl J Med 364:432-42 (2011) DOI:10.1056/NEJMoa0912923 |