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Hepatic veno-occlusive disease-immunodeficiency syndrome(VODI)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Hepatic Veno-occlusive Disease with Immunodeficiency; Hepatic venoocclusive disease with immunodeficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Gene (location): SP110 (2q37.1)
Monarch Initiative: MONDO:0009338
OMIM®: 235550
Orphanet: ORPHA79124

Disease characteristics

Hepatic veno-occlusive disease with immunodeficiency (VODI) is characterized by: (1) primary immunodeficiency; and (2) terminal hepatic lobular vascular occlusion and hepatic fibrosis manifest as hepatomegaly and/or hepatic failure. Onset is usually before age six months. The immunodeficiency comprises severe hypogammaglobulinemia, clinical evidence of T-cell immunodeficiency with normal numbers of circulating T cells, absent lymph node germinal centers, and absent tissue plasma cells. Bacterial and opportunistic infections including Pneumocystis jirovecii infection, mucocutaneous candidiasis, and enteroviral or cytomegalovirus infections occur. In the past the prognosis for affected individuals was poor, with 100% mortality in the first year of life if unrecognized and untreated with intravenous immunoglobulin (IVIG) and Pneumocystis jirovecii prophylaxis. However, with early recognition and treatment there is a marked improvement in prognosis. [from GeneReviews]
Tony Roscioli  |  John B Ziegler  |  Michael Buckley, et. al.   view full author information

Additional descriptions

Hepatic venoocclusive disease with immunodeficiency syndrome (VODI) is an autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. The immunodeficiency is characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells (summary by Roscioli et al., 2006).  http://www.omim.org/entry/235550
From MedlinePlus Genetics
Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a hereditary disorder of the liver and immune system. Its signs and symptoms appear after the first few months of life.

Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in this organ. This condition can lead to enlargement of the liver (hepatomegaly), a buildup of scar tissue (hepatic fibrosis), and liver failure.

Children with VODI are prone to recurrent infections caused by certain bacteria, viruses, and fungi. The organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. These infections are usually serious and may be life-threatening. In most people with VODI, infections occur before hepatic veno-occlusive disease becomes evident.

Many people with VODI live only into childhood, although some affected individuals have lived to early adulthood.  https://medlineplus.gov/genetics/condition/hepatic-veno-occlusive-disease-with-immunodeficiency

Clinical features

From HPO
Endomyocardial fibrosis
MedGen UID:
Concept ID:
The presence of excessive connective tissue in the endocardium.
Abnormality of the liver
MedGen UID:
Concept ID:
An abnormality of the liver.
MedGen UID:
Concept ID:
Head circumference below 2 standard deviations below the mean for age and gender.
MedGen UID:
Concept ID:
Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Absence of lymph node germinal center
MedGen UID:
Concept ID:
Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.
Decreased circulating IgG level
MedGen UID:
Concept ID:
An abnormally decreased level of immunoglobulin G (IgG) in blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHepatic veno-occlusive disease-immunodeficiency syndrome
Follow this link to review classifications for Hepatic veno-occlusive disease-immunodeficiency syndrome in Orphanet.

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