Details of Disease | DrugMAP

General Information of Disease (ID: DISJNE30)

Disease Name	VACTERL/vater association
Synonyms	VATER syndrome; VATER/VACTERL association; VACTERL Association; VATER association; VACTERL association; vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome
Definition	VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISJNE30: VACTERL/vater association
Disease Identifiers	MONDO ID MONDO_0008642 UMLS CUI C4225671 OMIM ID 192350 MedGen ID 902479 Orphanet ID 887

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GPR35	TT254XD	Strong	Biomarker	[1]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FOXF1	OT2CJZ5K	Strong	Biomarker	[2]
HOXD13	OTWSC8TF	Strong	Biomarker	[3]
TEF	OTY3LAD9	Strong	Biomarker	[4]
TRAP1	OTNG0L8J	Strong	Biomarker	[5]
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References

1	De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.Eur J Hum Genet. 2013 Dec;21(12):1377-82. doi: 10.1038/ejhg.2013.58. Epub 2013 Apr 3.
2	Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.Hum Mutat. 2015 Dec;36(12):1150-4. doi: 10.1002/humu.22859. Epub 2015 Sep 14.
3	Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am J Hum Genet. 2003 Apr;72(4):984-97. doi: 10.1086/374721. Epub 2003 Mar 14.
4	Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: no evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrum.Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):786-91. doi: 10.1002/bdra.23205. Epub 2013 Dec 5.
5	HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.Birth Defects Res. 2019 Jun 1;111(10):591-597. doi: 10.1002/bdr2.1493. Epub 2019 Mar 18.