Details of Disease

General Information of Disease (ID: DISB79CB)

Disease Name VACTERL with hydrocephalus
Synonyms
VACTERL association with hydrocephaly; VACTERL hydrocephaly; VACTERL association with hydrocephalus; Vater association with hydrocephalus; vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly; Vater association with macrocephaly and ventriculomegaly; VACTERL-H; Sujansky-Leonard syndrome
Definition
VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DISB79CB: VACTERL with hydrocephalus
Disease Identifiers
MONDO ID
MONDO_0010172
MESH ID
C564751
UMLS CUI
C1848599
OMIM ID
276950
MedGen ID
376400
Orphanet ID
3412

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
PTEN TTXJ3W7 Strong CausalMutation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FANCB OTMZTXB5 Supportive Autosomal recessive [2]
IFT172 OT12DW08 Strong Genetic Variation [3]
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References

1 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.Am J Hum Genet. 2017 May 4;100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010.
2 X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations. Am J Med Genet A. 2011 Oct;155A(10):2370-80. doi: 10.1002/ajmg.a.33913. Epub 2011 Sep 9.
3 A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus.Hum Mol Genet. 2011 Oct 1;20(19):3725-37. doi: 10.1093/hmg/ddr241. Epub 2011 Jun 8.