Rare Hematology News

Disease Profile

Hepatic venoocclusive disease with immunodeficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

K76.5

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

VODI

Categories

Congenital and Genetic Diseases; Digestive Diseases; Immune System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 79124

Definition
Hepatic veno-occlusive diseaseimmunodeficiency 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.

Epidemiology
Prevalence at birth is 1/2 500 in the Lebanese population, 25 cases having been described in a 30-year period.

Etiology
Mutations in the gene coding PML nuclear body protein Sp110 were found to be responsible for this association.

Genetic counseling
Transmission is autosomal recessive.

Prognosis
Mortality reaches 85% if the syndrome remains unrecognised and untreated.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal serum interferon-gamma level
0030355
Abnormal serum interleukin level
0030782
Panhypogammaglobulinemia
0003139
30%-79% of people have these symptoms
Absence of lymph node germinal center
0002849
Cough
Coughing
0012735
Decreased proportion of memory B cells
0030374
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy

[ more ]

0001531
Hepatomegaly
Enlarged liver
0002240
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Recurrent enteroviral infections
0002743
Recurrent gastroenteritis
0031123
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
T lymphocytopenia
Low T cell count
Reduced number of T cells

[ more ]

0005403
5%-29% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
Ascites
Accumulation of fluid in the abdomen
0001541
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Chronic hepatic failure
Chronic liver failure
0100626
Chronic mucocutaneous candidiasis
0002728
Diarrhea
Watery stool
0002014
Elevated hepatic transaminase
High liver enzymes
0002910
Hemiparesis
Weakness of one side of body
0001269
Inappropriate antidiuretic hormone secretion
0031218
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

0000952
Leukodystrophy
0002415
Pancytopenia
Low blood cell count
0001876
Paraparesis
Partial paralysis of legs
0002385
Paraplegia
Leg paralysis
0010550
Portal hypertension
0001409
Pulmonary fibrosis
0002206
Pulmonary hemorrhage
0040223
Recurrent abscess formation
0002722
Recurrent aspiration pneumonia
0002100
Recurrent ear infections
Frequent ear infections
0410018
Thrombocytopenia
Low platelet count
0001873
Urinary retention
0000016
1%-4% of people have these symptoms
Abnormal natural killer cell count
0040089
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Percent of people who have these symptoms is not available through HPO
Abnormality of the liver
Abnormal liver
Liver abnormality

[ more ]

0001392
Autosomal recessive inheritance
0000007
Decreased circulating IgG level
0004315
Endocardial fibrosis
0006685
Immunodeficiency
Decreased immune function
0002721

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hepatic venoocclusive disease with immunodeficiency. Click on the link to view a sample search on this topic.