KEGG   DISEASE: Hereditary dentine disorders
Entry
H00432                      Disease                                
Name
Hereditary dentine disorders
  Subgroup
Dentinogenesis imperfecta
Dentin dysplasia [DS:H02348]
Description
Hereditary dentine disorders are divided into 5 types: 3 types of dentinogenesis imperfecta (DGI), and 2 types of dentin dysplasia (DD). DGI type I is inherited with osteogenesis imperfecta [DS:H00506]. It has been shown that mutations in the genes encoding collagen type 1, COL1A1 and COL1A2, underlie this condition. All other forms of DGI and DD except DD1, appear to result from mutations in the gene encoding dentine sialophosphoprotein (DSPP).
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the face, mouth or teeth
    LA30  Structural developmental anomalies of teeth and periodontal tissues
     H00432  Hereditary dentine disorders
Pathway
hsa04512  ECM-receptor interaction
Gene
DSPP [HSA:1834] [KO:K23573]
Other DBs
ICD-11: LA30.Y
ICD-10: K00.5
OMIM: 125490 125500 125420
Reference
PMID:19021896
  Authors
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
  Title
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.
  Journal
Orphanet J Rare Dis 3:31 (2008)
DOI:10.1186/1750-1172-3-31
Reference
PMID:17452557
  Authors
Kim JW, Simmer JP
  Title
Hereditary dentin defects.
  Journal
J Dent Res 86:392-9 (2007)
DOI:10.1177/154405910708600502
Reference
PMID:16955410
  Authors
MacDougall M, Dong J, Acevedo AC
  Title
Molecular basis of human dentin diseases.
  Journal
Am J Med Genet A 140:2536-46 (2006)
DOI:10.1002/ajmg.a.31359

» Japanese version

  All links  
Disease (3)   
   OMIM (3)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (8)   

Download RDF
DBGET integrated database retrieval system