KEGG   DISEASE: H01195Help
Entry
H01195                      Disease                                

Name
VACTERL/VATER association
Description
The acronym VATER/VACTERL association refers to the rare, non-random co-occurrence of vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheo-esophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). It is typically defined by the presence of at least three of these cardinal features. The aetiology has been identified only in a small fraction of patients to date, likely due to factors such as a high degree of clinical and causal heterogeneity, the largely sporadic nature of the disorder, and the presence of many similar conditions. Chromosomal abnormalities have been described in rare individual cases and proposed as possible causal factors, including: deletions of distal 13q, ring chromosome 12, and 6q; duplication on 9q;  mutations in PTEN, HOXD13, and ZIC3; and a mitochondrial substitution.
Category
Inherited metabolic disease; Skeletal dysplasia
BRITE hierarchy
Pathway
Inositol phosphate metabolism
Phosphatidylinositol signaling system
p53 signaling pathway
Focal adhesion
Tight junction
Gene
PTEN [HSA:5728] [KO:K01110]
HOXD13 [HSA:3239] [KO:K09298]
ZIC3 [HSA:7547] [KO:K09224]
Env factor
Maternal diabetes, uterine vascular pathology, and infertility treatment
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:20849991 (description, gene)
  Authors
Schramm C, Draaken M, Bartels E, Boemers TM, Aretz S, Brockschmidt FF, Nothen MM, Ludwig M, Reutter H
  Title
De novo microduplication at 22q11.21 in a patient with VACTERL association.
  Journal
Eur J Med Genet 54:9-13 (2011)
Reference
PMID:21846383 (description)
  Authors
Solomon BD
  Title
VACTERL/VATER Association.
  Journal
Orphanet J Rare Dis 6:56 (2011)
Reference
PMID:22422375 (description, environmental factor)
  Authors
Hilger A, Schramm C, Draaken M, Mughal SS, Dworschak G, Bartels E, Hoffmann P, Nothen MM, Reutter H, Ludwig M
  Title
Familial occurrence of the VATER/VACTERL association.
  Journal
Pediatr Surg Int 28:725-9 (2012)
Reference
PMID:11748304 (gene)
  Authors
Reardon W, Zhou XP, Eng C
  Title
A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.
  Journal
J Med Genet 38:820-3 (2001)
Reference
PMID:19006232 (gene)
  Authors
Garcia-Barcelo MM, Wong KK, Lui VC, Yuan ZW, So MT, Ngan ES, Miao XP, Chung PH, Khong PL, Tam PK
  Title
Identification of a HOXD13 mutation in a VACTERL patient.
  Journal
Am J Med Genet A 146A:3181-5 (2008)
Reference
PMID:20452998 (gene)
  Authors
Wessels MW, Kuchinka B, Heydanus R, Smit BJ, Dooijes D, de Krijger RR, Lequin MH, de Jong EM, Husen M, Willems PJ, Casey B
  Title
Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?
  Journal
J Med Genet 47:351-5 (2010)

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