Hepatic Veno-occlusive Disease-immunodeficiency Syndrome

Description

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.

Clinical Features

Phenotypes and symptoms related to Hepatic Veno-occlusive Disease-immunodeficiency Syndrome

  • Microcephaly
  • Immunodeficiency
  • Abnormality of the liver
  • Decreased antibody level in blood
  • IgG deficiency
  • Chronic mucocutaneous candidiasis
  • Endocardial fibrosis
  • Absence of lymph node germinal center

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hepatic Veno-occlusive Disease-immunodeficiency Syndrome Is also known as vodi syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hepatic Veno-occlusive Disease-immunodeficiency Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Syndromes with immunodeficiency Panel.

By CeGaT GmbH (Germany).

RMRP, RUNX2, BLM, SMARCAL1, STAT3, TBX1, TERC, TERT, TINF2, TREX1, TYK2, WAS, NHP2, SPINK5, SAMHD1, NLRP3, RNASEH2A, DOCK8, ZBTB24, ADAR , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae (United States).

RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Invitae Syndromic Combined Immunodeficiency (CID) Panel.

By Invitae (United States).

RMRP, SEMA3E, SMARCAL1, STAT3, STAT5B, STIM1, TBX1, TCN2, TERC, TERT, TINF2, WAS, WIPF1, FOXN1, NHP2, NOP10, SPINK5, RTEL1, DCLRE1B, TTC7A , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
SP110.

By Fulgent Genetics Fulgent Genetics (United States).

SP110
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)

View the complete list with 253 more genes
Specificity
1 %
Genes
100 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, BLM, SH2D1A, SMARCAL1, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, TAPBP, TBX1, TFRC, TNFRSF4, CD40, CD27, CD40LG, TYK2, WAS, FOXN1 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %
Hepatic Veno-Occlusive Disease with Immunodeficiency: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics (Canada).

SP110
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

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