ORPHA:79124
Hepatic veno-occlusive disease-immunodeficiency syndrome
Synonyms: VODI syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare syndrome with combined immunodeficiency 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hepatic veno-occlusive disease-immunodeficiency syndrome | VODI syndrome |
| fr | Syndrome de maladie veino-occlusive hépatique-déficit immunitaire | Syndrome de maladie veino-occlusive hépatique-immunodéficience |
| de | Lebervenen-Verschlusskrankheit - Immunschwäche | VODI-Syndrom |
| es | Síndrome de enfermedad hepática veno-oclusiva-inmunodeficiencia | |
| it | Occlusione della vena epatica - immunodeficienza | Sindrome VODI |
| nl | Hepatische veno-occlusieve ziekte - immuundeficiëntie-syndroom | VODI-syndroom |
| pt | Doença veno-oclusiva hepática-síndrome de imunodeficiência | |
| pl | Choroba zarostowa żył wątrobowych - Niedobór odporności | Zespół VODI |
| cs | Syndrom zahrnující hepatální venookluzivní chorobu a imunodeficienci | VODI syndrom |
| uk | Синдром венооклюзивної хвороби печінки-імунодефіциту | VODI-синдром |
| zh | 肝静脉闭塞性疾病-免疫缺陷综合征 | VODL综合征 |
| tr | Hepatik veno-tıkayıcı hastalık-immün yetmezlik sendromu | VODI sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 235550 | E | validated | |
| ICD-10 | K76.5 | NTBT | attributed | validated |
| ICD-11 | 4A01.33 | E | specific | validated |
| MONDO | 0009338 | E | validated | |
| UMLS | C4510630 | E | validated | |
| GARD | 10083 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:156601Rare genetic hepatic disease
rare genetic diseases - ORPHA:101938Rare vascular liver disease
rare hepatic diseases - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SP110 | Disease-causing germline mutation(s) in | Assessed | HGNC:5401 | ENSG00000135899 | 604457 | 2q37.1 | SP110 nuclear body protein | 16648851[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 28 cases | Worldwide | Case(s) | Validated | 20301448[PMID]_22621957[PMID]_16648851[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20301448[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
39 annotations · validated 2019-02-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011117 | Abnormal circulating interleukin concentration | |
| HP:0040088 | Abnormal lymphocyte count | |
| HP:0030355 | Abnormal serum interferon-gamma level | |
| HP:0003139 | Panhypogammaglobulinemia | |
| Frequent (79-30%) | ||
| HP:0002849 | Absence of lymph node germinal center | |
| HP:0012735 | Cough | |
| HP:0030374 | Decreased proportion of memory B cells | |
| HP:0005403 | Decreased total T cell count | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0002240 | Hepatomegaly | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0002743 | Recurrent enteroviral infections | |
| HP:0031123 | Recurrent gastroenteritis | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0004429 | Recurrent viral infections | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0001541 | Ascites | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0100626 | Chronic hepatic failure | |
| HP:0002728 | Chronic mucocutaneous candidiasis | |
| HP:0002014 | Diarrhea | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001269 | Hemiparesis | |
| HP:0031218 | Inappropriate antidiuretic hormone secretion | |
| HP:0000952 | Jaundice | |
| HP:0002415 | Leukodystrophy | |
| HP:0001876 | Pancytopenia | |
| HP:0002385 | Paraparesis | |
| HP:0010550 | Paraplegia | |
| HP:0001409 | Portal hypertension | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0040223 | Pulmonary hemorrhage | |
| HP:0002722 | Recurrent abscess formation | |
| HP:0002100 | Recurrent aspiration pneumonia | |
| HP:0410018 | Recurrent ear infections | |
| HP:0001873 | Thrombocytopenia | |
| HP:0000016 | Urinary retention | |
| Very rare (<4-1%) | ||
| HP:0040089 | Abnormal natural killer cell count | |
| HP:0000252 | Microcephaly | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20301448[PMID]_17510920[PMID]_22621957[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79124
- This record as JSON: /data/d/79124.json