Details of Disease

General Information of Disease (ID: DIS1HP9X)

Disease Name Heterotaxy, visceral, 4, autosomal
Synonyms HTX4; ACVR2B visceral heterotaxy; visceral heterotaxy caused by mutation in ACVR2B; heterotaxy, visceral, 4, autosomal
Definition Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene.
Disease Hierarchy
DIS1DV90: Visceral heterotaxy
DIS1HP9X: Heterotaxy, visceral, 4, autosomal
Disease Identifiers
MONDO ID
MONDO_0013403
UMLS CUI
C3151057
OMIM ID
613751
MedGen ID
462407

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ACVR2B TTLFRKS Strong Autosomal dominant [1]
ACVR2B TTLFRKS Definitive Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACVR2B OT209XLA Strong Autosomal dominant [1]
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References

1 Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies. Cardiol Young. 2012 Apr;22(2):194-201. doi: 10.1017/S1047951111001181. Epub 2011 Aug 25.
2 Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB.Am J Med Genet. 1999 Jan 1;82(1):70-6. doi: 10.1002/(sici)1096-8628(19990101)82:1<70::aid-ajmg14>3.0.co;2-y.