KEGG   DISEASE: Oligodontia-colorectal cancer syndrome
Entry
H00857                      Disease                                
Name
Oligodontia-colorectal cancer syndrome
Description
Oligodontia-colorectal cancer syndrome (ODCRCS) is a condition of dominant inheritance in which severe permanent tooth agenesis and a variable colorectal neoplasia occur. Affected individuals lack at least eight permanent teeth. The disease is caused by a nonsense mutation in AXIN2.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00857  Oligodontia-colorectal cancer syndrome
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06505  WNT signaling
   H00857  Oligodontia-colorectal cancer syndrome
Pathway
hsa04310  Wnt signaling pathway
Network
nt06505 WNT signaling
Gene
AXIN2 [HSA:8313] [KO:K04385]
Other DBs
ICD-11: LD27.0Y
MeSH: C563698
OMIM: 608615
Reference
PMID:15042511
  Authors
Lammi L, Arte S, Somer M, Jarvinen H, Lahermo P, Thesleff I, Pirinen S, Nieminen P
  Title
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.
  Journal
Am J Hum Genet 74:1043-50 (2004)
DOI:10.1086/386293
Reference
PMID:18499550
  Authors
Bailleul-Forestier I, Molla M, Verloes A, Berdal A
  Title
The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders.
  Journal
Eur J Med Genet 51:273-91 (2008)
DOI:10.1016/j.ejmg.2008.02.009
Reference
PMID:21416598
  Authors
Marvin ML, Mazzoni SM, Herron CM, Edwards S, Gruber SB, Petty EM
  Title
AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.
  Journal
Am J Med Genet A 155A:898-902 (2011)
DOI:10.1002/ajmg.a.33927

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

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