hepatic veno-occlusive disease-immunodeficiency syndrome
Findings
No curated finding names hepatic veno-occlusive disease-immunodeficiency syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009338), read 2026-09-29. CC BY 4.0.
Features
39 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating interferon-gamma concentrationHPOHP:0030355
- Very frequent (80% to 99% of cases)
- Abnormal circulating interleukin concentrationHPOHP:0011117
- Very frequent (80% to 99% of cases)
- Abnormal lymphocyte countHPOHP:0040088
- Very frequent (80% to 99% of cases)
- PanhypogammaglobulinemiaHPOHP:0003139
- Very frequent (80% to 99% of cases)
- Absence of lymph node germinal centerHPOHP:0002849
- Frequent (30% to 79% of cases)
- CoughHPOHP:0012735
- Frequent (30% to 79% of cases)
Show the remaining 27
- Recurrent gastroenteritisHPOHP:0031123
- Frequent (30% to 79% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Frequent (30% to 79% of cases)
- Recurrent viral infectionsHPOHP:0004429
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Occasional (5% to 29% of cases)
- AscitesHPOHP:0001541
- Occasional (5% to 29% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SP110HGNC:5401
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: hepatic veno-occlusive disease-immunodeficiency syndrome
- Also called
- VODI syndrome