Details of Disease | DrugMAP

General Information of Disease (ID: DIS000H0)

Disease Name	Hepatic veno-occlusive disease-immunodeficiency syndrome
Synonyms	hepatic veno-occlusive disease with immunodeficiency; hepatic venoocclusive disease with immunodeficiency; VODI; veno-occlusive disease and immunodeficiency syndrome; familial veno-occlusive disease with immunodeficiency; VODI syndrome
Definition	Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.
Disease Hierarchy	DISAIU45: Hepatic veno-occlusive disease DISNGCMN: Inborn error of immunity DIS000H0: Hepatic veno-occlusive disease-immunodeficiency syndrome
Disease Identifiers	MONDO ID MONDO_0009338 MESH ID C537257 UMLS CUI C1856128 OMIM ID 235550 MedGen ID 344659 Orphanet ID 79124

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SP140	OTQZHFMT	Strong	Genetic Variation	[1]
SP110	OTFW6WH7	Definitive	Autosomal recessive	[2]
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References

1	Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.J Allergy Clin Immunol. 2012 Sep;130(3):735-742.e6. doi: 10.1016/j.jaci.2012.02.054. Epub 2012 May 21.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.