KEGG   DISEASE: Dentin dysplasia
Entry
H02348                      Disease                                
Name
Dentin dysplasia
  Supergrp
Hereditary dentine disorders [DS:H00432]
Description
Dentin dysplasia (DD/DTDP) is a rare hereditary disturbance of dentin formation. Dentin dysplasia is divided into two main classes based on the clinical and radiographic appearance, type I (DD1/DTDP1) and type II (DD2/DTDP2). Type 1 is referred to as radicular dentin dysplasia and type 2 as coronal dentin dysplasia.
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
     H02348  Dentin dysplasia
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06548  Integrin signaling
   H02348  Dentin dysplasia
Pathway
hsa04512  ECM-receptor interaction
hsa04518  Integrin signaling
Network
nt06548 Integrin signaling
Gene
(DTDP1) SMOC2 [HSA:64094] [KO:K24354]
(DTDP2) DSPP [HSA:1834] [KO:K23573]
Other DBs
ICD-11: LA30.7
MeSH: D003805 D003784
OMIM: 125400 125420
Reference
PMID:23317772
  Authors
Alfawaz S, Fong F, Plagnol V, Wong FS, Fearne J, Kelsell DP
  Title
Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.
  Journal
Arch Oral Biol 58:462-6 (2013)
DOI:10.1016/j.archoralbio.2012.12.008
Reference
PMID:23814198
  Authors
Singh A, Gupta S, Yuwanati MB, Mhaske S
  Title
Dentin dysplasia type I.
  Journal
BMJ Case Rep 2013:bcr2013009403 (2013)
DOI:10.1136/bcr-2013-009403
Reference
PMID:12354781
  Authors
Rajpar MH, Koch MJ, Davies RM, Mellody KT, Kielty CM, Dixon MJ
  Title
Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization.
  Journal
Hum Mol Genet 11:2559-65 (2002)
DOI:10.1093/hmg/11.21.2559
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