Diseases of the digestive system
Diseases of liver
Autosomal recessive
2q37.1
Hepatic venoocclusive disease with immunodeficiency syndrome (VODI) is a primary immunodeficiency characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells. The condition has an early onset and it leads to hepatomegaly and liver failure. VODI is caused by homozygous mutation in the SP110 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 235550.1.1 | Lebanon | Female | Yes | Immunodeficiency; Thrombocytopenia Immunodeficiency; Thrombocytopenia  | NM_080424.2:c.642del | Homozygous | Autosomal, Recessive | Roscioli et al. 2006 | Patient 'A II.1' in ... | |
| 235550.2.1 | Lebanon | Male | Yes | Immunodeficiency Immunodeficiency | NM_080424.2:c.642del | Homozygous | Autosomal, Recessive | Roscioli et al. 2006 | Patient 'B II.1' in ... | |
| 235550.2.2 | Lebanon | Female | Yes | Hepatosplenomegaly; Ascites Hepatosplenomegaly; Ascites | NM_080424.2:c.642del | Homozygous | Autosomal, Recessive | Roscioli et al. 2006 | Patient 'B II.2' in ... | |
| 235550.3.1 | Lebanon | Female | Yes | Hepatosplenomegaly; Thrombocytopenia; ... Hepatosplenomegaly; Thrombocytopenia; Portal hypertension; | NM_080424.2:c.642del | Homozygous | Autosomal, Recessive | Roscioli et al. 2006 | Patient 'C II.1' in ... | |
| 235550.4 | Lebanon | Male | Yes | Abnormality of the liver Abnormality of the liver | NM_080424.2:c.642del | Homozygous | Autosomal, Recessive | Roscioli et al. 2006 | Patient 'D II.1' in ... | |
| 235550.5.1 | Lebanon | Male | Yes | Immunodeficiency; Thrombocytopenia Immunodeficiency; Thrombocytopenia | NM_080424.2:c.40del | Homozygous | Autosomal, Recessive | Roscioli et al. 2006 | Patient 'E II.1' in ... | |
| 235550.6 | Palestine | Yes | | NM_080424.4:c.373del | Homozygous | Autosomal, Recessive | Roscioli et al. 2006 | 2 similarly affected... | ||
| 235550.7 | Lebanon | Neonatal respiratory distress; Inapprop... Neonatal respiratory distress; Inappropriate antidiuretic hormone secretion; Leukodystrophy | NM_080424.2:c.642del | Homozygous | Autosomal, Recessive | Cliffe et al. 2012 | ||||
| 235550.8 | Lebanon | Cough; Diarrhea; Hepatosplenomegaly; ... Cough; Diarrhea; Hepatosplenomegaly; Prolonged prothrombin time; Seizure; Leukodystrophy | NM_080424.2:c.642del | Homozygous | Autosomal, Recessive | Cliffe et al. 2012 |
Mellis and Bale (1976) reported three families with five infants with venoocclusive disease with immunodeficiency. In two of these families, the parents were Lebanese and consangunieus. In the third family, the father was Lebanese.