| H00680 | |
| H number | H00680 |
| Name | Primary failure of tooth eruption |
| Description | Primary failure of tooth eruption (PFE) is a condition in which tooth retention occurs without mechanical interference. Defects in PTHR1 are the cause of PFE. |
| Category | Digestive system disease |
| Network | - |
| Gene | PTHR1 [HSA:5745] [KO:K04585] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: DA07.6 MeSH: C565114 OMIM: 125350 |
| Reference | PMID:17041084 AUTHORS Ahmad S, Bister D, Cobourne MT TITLE The clinical features and aetiological basis of primary eruption failure. JOURNAL Eur J Orthod 28:535-40 (2006) DOI:10.1093/ejo/cjl033 PMID:19419448 AUTHORS Proffit WR, Frazier-Bowers SA TITLE Mechanism and control of tooth eruption: overview and clinical implications. JOURNAL Orthod Craniofac Res 12:59-66 (2009) DOI:10.1111/j.1601-6343.2009.01438.x PMID:19061984 AUTHORS Decker E, Stellzig-Eisenhauer A, Fiebig BS, Rau C, Kress W, Saar K, Ruschendorf F, Hubner N, Grimm T, Weber BH TITLE PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. JOURNAL Am J Hum Genet 83:781-6 (2008) DOI:10.1016/j.ajhg.2008.11.006 |