KEGG   DISEASE: Caudal duplication anomalyHelp
Entry
H00934                      Disease                                

Name
Caudal duplication anomaly
Description
Caudal duplication anomaly is a rare type of developmental disorder that arises from incomplete separation of mono-ovular twins. It can involve various congenital anomalies, but the hallmark is duplication of organs in the caudal region, and most frequently affected organs are genitourinary and gastrointestinal tracts. Recently AXIN1 promotor has been shown to have methylation in patients with caudal duplication anomaly.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00934  Caudal duplication anomaly
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00934  Caudal duplication anomaly
BRITE hierarchy
Pathway
hsa04310  Wnt signaling pathway
Gene
AXIN1 (methylation at the promoter region) [HSA:8312] [KO:K02157]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.8
MeSH: C564315
OMIM: 607864
Reference
  Authors
Rattan KN, Budhiraja S, Pandit SK, Solanki RS, Sen R, Sen J
  Title
Caudal duplication--a case report.
  Journal
Pediatr Surg Int 16:445-6 (2000)
Reference
PMID:9502040
  Authors
La Torre R, Fusaro P, Anceschi MM, Montanino-Oliva M, Modesto S, Cosmi EV
  Title
Unusual case of caudal duplication (dipygus).
  Journal
Reference
  Authors
Kroes HY, Takahashi M, Zijlstra RJ, Baert JA, Kooi KA, Hofstra RM, van Essen AJ
  Title
Two cases of the caudal duplication anomaly including a discordant monozygotic twin.
  Journal
Am J Med Genet 112:390-3 (2002)
DOI:10.1002/ajmg.10594
Reference
  Authors
Oates NA, van Vliet J, Duffy DL, Kroes HY, Martin NG, Boomsma DI, Campbell M, Coulthard MG, Whitelaw E, Chong S
  Title
Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly.
  Journal
Am J Hum Genet 79:155-62 (2006)
DOI:10.1086/505031

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