KEGG   DISEASE: Gnathodiaphyseal dysplasia
Entry
H00498                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00498  Gnathodiaphyseal dysplasia
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06535  Efferocytosis
   H00498  Gnathodiaphyseal dysplasia
Pathway
hsa04148 Efferocytosis   
Network
nt06535 Efferocytosis
Gene
GDD1/TMEM16E [HSA:203859] [KO:K19480]
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
Reference
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
Reference
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
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