KEGG   DISEASE: Caudal duplication anomaly
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 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
Pathway
hsa04390  Hippo signaling pathway
hsa04310  Wnt signaling pathway
Gene
AXIN1 (methylation at the promoter region) [HSA:8312] [KO:K02157]
Other DBs
ICD-11: LD2F.1Y
MeSH: C564315
OMIM: 607864
Reference
PMID:10955588
  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)
DOI:10.1007/s003839900313
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
J Clin Ultrasound 26:163-5 (1998)
DOI:10.1002/(SICI)1097-0096(199803/04)26:3<163::AID-JCU10>3.0.CO;2-C
Reference
PMID:12376942
  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
PMID:16773576
  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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