| H00500 | |
| H number | H00500 |
| Name | Keutel syndrome |
| Description | Keutel syndrome is a rare autosomal recessive condition characterized by diffuse cartilage calcification. Mutations in the matrix Gla protein gene (MGP) have been reported. |
| Category | Congenital malformation |
| Network | - |
| Gene | MGP [HSA:4256] [KO:K19481] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C536167 OMIM: 245150 |
| Reference | PMID:9674914 AUTHORS Teebi AS, Lambert DM, Kaye GM, Al-Fifi S, Tewfik TL, Azouz EM TITLE Keutel syndrome: further characterization and review. JOURNAL Am J Med Genet 78:182-7 (1998) DOI:10.1002/(SICI)1096-8628(19980630)78:2<182::AID-AJMG18>3.0.CO;2-J PMID:15810001 AUTHORS Hur DJ, Raymond GV, Kahler SG, Riegert-Johnson DL, Cohen BA, Boyadjiev SA TITLE A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. JOURNAL Am J Med Genet A 135:36-40 (2005) DOI:10.1002/ajmg.a.30680 |