| H01264 | |
| H number | H01264 |
| Name | Hepatic venoocclusive disease with immunodeficiency |
| Description | Hepatic venoocclusive disease with immunodeficiency (VODI) is an autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. Mutations in the gene coding PML nuclear body protein Sp110 were found to be associated with VODI. |
| Category | Immune system disease |
| Network | - |
| Gene | SP110 [HSA:3431] [KO:K24503] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4A01.33 ICD-10: K76.5 MeSH: C537257 OMIM: 235550 |
| Reference | PMID:16648851 AUTHORS Roscioli T, Cliffe ST, Bloch DB, Bell CG, Mullan G, Taylor PJ, Sarris M, Wang J, Donald JA, Kirk EP, Ziegler JB, Salzer U, McDonald GB, Wong M, Lindeman R, Buckley MF TITLE Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. JOURNAL Nat Genet 38:620-2 (2006) DOI:10.1038/ng1780 |