H00508 | |
H number | H00508 |
Name | Blomstrand syndrome; Blomstrand chondrodysplasia |
Description | Blomstrand syndrome is a lethal osteochondrodysplasia due to nonfunctioning PTHrP receptors. Patients show increased bone density and advanced endochondral bone maturation. |
Category | Congenital malformation |
Network | - |
Gene | PTHR1 [HSA:5745] [KO:K04585] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD24.1Y ICD-10: Q78.8 MeSH: C537914 OMIM: 215045 |
Reference | PMID:15525660 AUTHORS Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C TITLE Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. JOURNAL Hum Mol Genet 14:1-5 (2005) DOI:10.1093/hmg/ddi001 |