Details of Disease | DrugMAP

General Information of Disease (ID: DIS3D4CH)

Disease Name	Heterotaxy, visceral, 5, autosomal
Synonyms	HTX5; situs inversus viscerum; NODAL visceral heterotaxy; visceral heterotaxy caused by mutation in NODAL; SIV
Definition	Any visceral hetetotaxy in which the cause of the disease is a mutation in the NODAL gene.
Disease Hierarchy	DIS1DV90: Visceral heterotaxy DIS3D4CH: Heterotaxy, visceral, 5, autosomal
Disease Identifiers	MONDO ID MONDO_0700112 MESH ID C538116 UMLS CUI C3495537 OMIM ID 270100 MedGen ID 501198

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
NODAL	TTK2O1Q	Limited	Biomarker	[1]
NODAL	TTK2O1Q	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NODAL	OTZ34981	Strong	Autosomal dominant	[1]
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References

1	Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet. 2009 Mar 1;18(5):861-71. doi: 10.1093/hmg/ddn411. Epub 2008 Dec 8.