H00498 | |
H number | H00498 |
Name | Gnathodiaphyseal dysplasia |
Description | Gnathodiaphyseal dysplasia is a rare skeletal syndrome with autosomal dominant inheritance. It is characterized by cemento-osseous lesions of the jawbone, bone fragility, and sclerosis of tubular bones. Missense mutations of GDD1, which shows homology to TMEM16E, were identified. |
Category | Musculoskeletal disease |
Network | - |
Gene | GDD1/TMEM16E [HSA:203859] [KO:K19480] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD24.2Y MeSH: C536039 OMIM: 166260 |
Reference | PMID:11547842 AUTHORS Riminucci M, Collins MT, Corsi A, Boyde A, Murphey MD, Wientroub S, Kuznetsov SA, Cherman N, Robey PG, Bianco P TITLE Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing. JOURNAL J Bone Miner Res 16:1710-8 (2001) DOI:10.1359/jbmr.2001.16.9.1710 PMID:15124103 AUTHORS Tsutsumi S, Kamata N, Vokes TJ, Maruoka Y, Nakakuki K, Enomoto S, Omura K, Amagasa T, Nagayama M, Saito-Ohara F, Inazawa J, Moritani M, Yamaoka T, Inoue H, Itakura M TITLE The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). JOURNAL Am J Hum Genet 74:1255-61 (2004) DOI:10.1086/421527 PMID:17418107 AUTHORS Mizuta K, Tsutsumi S, Inoue H, Sakamoto Y, Miyatake K, Miyawaki K, Noji S, Kamata N, Itakura M TITLE Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia. JOURNAL Biochem Biophys Res Commun 357:126-32 (2007) DOI:10.1016/j.bbrc.2007.03.108 |