| H00519 | |
| H number | H00519 |
| Name | Spondyloepiphyseal dysplasia congenita |
| Description | Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Individuals with SED, Stanescu type (SEDS) are not short, although spondylar and epiphyseal abnormalities are radiologically quite conspicuous. Mutations in COL2A1 that encodes the alpha-1 chain of type II collagen, cause these diseases. |
| Category | Congenital malformation |
| Network | - |
| Gene | COL2A1 [HSA:1280] [KO:K19719] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.3 ICD-10: Q77.7 MeSH: D010009 OMIM: 183900 616583 |
| Reference | PMID:1971141 AUTHORS Anderson IJ, Goldberg RB, Marion RW, Upholt WB, Tsipouras P TITLE Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI). JOURNAL Am J Hum Genet 46:896-901 (1990) PMID:26420734 AUTHORS Hammarsjo A, Nordgren A, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Wedren S, Nordenskjold M, Nishimura G, Grigelioniene G TITLE Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu. JOURNAL Am J Med Genet A 170A:266-9 (2016) DOI:10.1002/ajmg.a.37387 |