| H00857 | |
| H number | H00857 |
| Name | Oligodontia-colorectal cancer syndrome |
| Description | Oligodontia-colorectal cancer syndrome (ODCRCS) is a condition of dominant inheritance in which severe permanent tooth agenesis and a variable colorectal neoplasia occur. Affected individuals lack at least eight permanent teeth. The disease is caused by a nonsense mutation in AXIN2. |
| Category | Congenital malformation |
| Network | nt06505(H00857) WNT signaling |
| Gene | AXIN2 [HSA:8313] [KO:K04385] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD27.0Y MeSH: C563698 OMIM: 608615 |
| Reference | PMID:15042511 AUTHORS Lammi L, Arte S, Somer M, Jarvinen H, Lahermo P, Thesleff I, Pirinen S, Nieminen P TITLE Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. JOURNAL Am J Hum Genet 74:1043-50 (2004) DOI:10.1086/386293 PMID:18499550 AUTHORS Bailleul-Forestier I, Molla M, Verloes A, Berdal A TITLE The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. JOURNAL Eur J Med Genet 51:273-91 (2008) DOI:10.1016/j.ejmg.2008.02.009 PMID:21416598 AUTHORS Marvin ML, Mazzoni SM, Herron CM, Edwards S, Gruber SB, Petty EM TITLE AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome. JOURNAL Am J Med Genet A 155A:898-902 (2011) DOI:10.1002/ajmg.a.33927 |