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Hepatic veno-occlusive disease-immunodeficiency syndrome(VODI)

MedGen UID:
344659
Concept ID:
C1856128
Disease or Syndrome
Synonyms: Hepatic Veno-occlusive Disease with Immunodeficiency; Hepatic venoocclusive disease with immunodeficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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) combined immunodeficiency and (2) terminal hepatic lobular vascular occlusion and hepatic fibrosis manifesting 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 and B 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 or subcutaneous immunoglobulin (IVIG/SCIG) and Pneumocystis jirovecii prophylaxis. However, with early recognition and treatment, including the more recent use of defibrotide, there is a marked improvement in prognosis. Early hematopoietic stem cell transplantation (HSCT) using non-hepatoxic drugs in conditioning and prophylactic defibrotide is potentially curative. [from GeneReviews]
Authors:
Melanie Wong   view full author information

Additional descriptions

From OMIM
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 (VODI) is a disorder of the liver and immune system. Its signs and symptoms typically appear before six months of age.

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 have immune systems that do not function normally. They are vulnerable to recurrent infections that are caused by certain bacteria, viruses, and fungi. Affected individuals experience frequent colds or bouts of pneumonia. The infections are likely related to lower-than-normal levels of immune system cells, including special proteins called antibodies or immunoglobulins, particularly immunoglobulin M (IgM), immunoglobulin G (IgG), and immunoglobulin A (IgA). Antibodies attach to specific foreign particles, marking them for destruction. These infections are usually serious and may be life-threatening. In most people with VODI, infections occur before hepatic veno-occlusive disease becomes evident.

Some children with VODI have neurological problems due to blocked blood flow in the brain.

If untreated, children with VODI do not survive past infancy. With treatment, many people with VODI can live into childhood and sometimes into their teens.  https://medlineplus.gov/genetics/condition/hepatic-veno-occlusive-disease-with-immunodeficiency

Clinical features

From HPO
Endomyocardial fibrosis
MedGen UID:
107513
Concept ID:
C0553980
Finding
The presence of excessive connective tissue in the endocardium.
Abnormality of the liver
MedGen UID:
893061
Concept ID:
C4021780
Finding
An abnormality of the liver.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Immunodeficiency
MedGen UID:
7034
Concept ID:
C0021051
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:
376112
Concept ID:
C1847383
Finding
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 concentration
MedGen UID:
1720114
Concept ID:
C5234937
Finding
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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