| H00432 | |
| H number | H00432 |
| Name | Hereditary dentine disorders |
| Description | Hereditary dentine disorders are divided into 5 types: 3 types of dentinogenesis imperfecta (DGI), and 2 types of dentin dysplasia (DD). DGI type I is inherited with osteogenesis imperfecta [DS:H00506]. It has been shown that mutations in the genes encoding collagen type 1, COL1A1 and COL1A2, underlie this condition. All other forms of DGI and DD except DD1, appear to result from mutations in the gene encoding dentine sialophosphoprotein (DSPP). |
| Category | Congenital malformation |
| Network | - |
| Gene | DSPP [HSA:1834] [KO:K23573] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA30.Y ICD-10: K00.5 OMIM: 125490 125500 125420 |
| Reference | PMID:19021896 AUTHORS Barron MJ, McDonnell ST, Mackie I, Dixon MJ TITLE Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. JOURNAL Orphanet J Rare Dis 3:31 (2008) DOI:10.1186/1750-1172-3-31 PMID:17452557 AUTHORS Kim JW, Simmer JP TITLE Hereditary dentin defects. JOURNAL J Dent Res 86:392-9 (2007) DOI:10.1177/154405910708600502 PMID:16955410 AUTHORS MacDougall M, Dong J, Acevedo AC TITLE Molecular basis of human dentin diseases. JOURNAL Am J Med Genet A 140:2536-46 (2006) DOI:10.1002/ajmg.a.31359 |