| H00443 | |
| H number | H00443 |
| Name | Osteoglophonic dysplasia; Osteoglophonic dwarfism |
| Description | Osteoglophonic dysplasia (OD) or osteoglophonic dwarfism (OGD) is an autosomal dominant disorder that has skeletal phenotypes of craniosynostosis. Missense mutation of FGFR1 has been reported. |
| Category | Congenital malformation |
| Network | - |
| Gene | FGFR1 [HSA:2260] [KO:K04362] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.2Y ICD-10: Q87.1 MeSH: C536050 OMIM: 166250 |
| Reference | PMID:20339250 AUTHORS Shankar VN, Ajila V, Kumar G TITLE Osteoglophonic dysplasia: a case report. JOURNAL J Oral Sci 52:167-71 (2010) DOI:10.2334/josnusd.52.167 PMID:20236123 AUTHORS Sow AJ, Ramli R, Latiff ZA, Ichikawa S, Gray AK, Nordin R, Abd Jabar MN, Primuharsa Putra SH, Siar CH, Econs MJ TITLE Osteoglophonic dysplasia: A 'common' mutation in a rare disease. JOURNAL Clin Genet 78:197-8 (2010) DOI:10.1111/j.1399-0004.2010.01382.x PMID:15625620 AUTHORS White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw NJ, McLellan NJ, McKeown C, Fitzpatrick D, Yu K, Ornitz DM, Econs MJ TITLE Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. JOURNAL Am J Hum Genet 76:361-7 (2005) DOI:10.1086/427956 |