KEGG   DISEASE: Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism
Entry
H00618                      Disease                                
Name
Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism
  Supergrp
Amelogenesis imperfecta [DS:H00615]
Description
Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) is a condition characterized by enamel defects and enlarged pulp chambers. Unlike its allelic disorder trichodentoosseous dysplasia, AIHHT patients do not show hair and bone abnormalities. AIHHT is an autosomal dominant trait.
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
     H00618  Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism
Gene
DLX3 [HSA:1747] [KO:K09315]
Comment
Amelogenesis imperfecta and trichodentoosseous dysplasia are described in H00615 and H00487, respectively.
Other DBs
ICD-11: LA30.6
MeSH: C566293
OMIM: 104510
Reference
PMID:16304440
  Authors
Stephanopoulos G, Garefalaki ME, Lyroudia K
  Title
Genes and related proteins involved in amelogenesis imperfecta.
  Journal
J Dent Res 84:1117-26 (2005)
DOI:10.1177/154405910508401206
Reference
PMID:17408482
  Authors
Crawford PJ, Aldred M, Bloch-Zupan A
  Title
Amelogenesis imperfecta.
  Journal
Orphanet J Rare Dis 2:17 (2007)
DOI:10.1186/1750-1172-2-17
Reference
PMID:17552940
  Authors
Hu JC, Simmer JP
  Title
Developmental biology and genetics of dental malformations.
  Journal
Orthod Craniofac Res 10:45-52 (2007)
DOI:10.1111/j.1601-6343.2007.00384.x
Reference
PMID:15666299
  Authors
Dong J, Amor D, Aldred MJ, Gu T, Escamilla M, MacDougall M
  Title
DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism.
  Journal
Am J Med Genet A 133A:138-41 (2005)
DOI:10.1002/ajmg.a.30521
LinkDB

» Japanese version

DBGET integrated database retrieval system