MCID: HPT077
MIFTS: 29

Hepatic Venoocclusive Disease with Immunodeficiency

Categories: Genetic diseases, Rare diseases, Liver diseases, Blood diseases, Immune diseases

Aliases & Classifications for Hepatic Venoocclusive Disease with Immunodeficiency

MalaCards integrated aliases for Hepatic Venoocclusive Disease with Immunodeficiency:

Name: Hepatic Venoocclusive Disease with Immunodeficiency 54 50 25 71 29 13 69
Vodi 23 50 24 25 71
Hepatic Veno-Occlusive Disease with Immunodeficiency 23 24 25
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome 56
Familial Veno-Occlusive Disease with Immunodeficiency 25
Veno-Occlusive Disease and Immunodeficiency Syndrome 25
Vodi Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
hepatic veno-occlusive disease-immunodeficiency syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: early childhood,infantile,late childhood;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
hepatic venoocclusive disease with immunodeficiency:
Inheritance autosomal recessive inheritance


GeneReviews:

23
Penetrance Penetrance for the combined b- and t-cell immunodeficiency has been 100% in individuals confirmed to have vodi caused by pathogenic variants in sp110. likewise, hvod has been described in all probands or their affected sibs...

Classifications:



External Ids:

OMIM 54 235550
Orphanet 56 ORPHA79124
UMLS via Orphanet 70 C1856128
ICD10 via Orphanet 34 K76.5
MedGen 40 C1856128

Summaries for Hepatic Venoocclusive Disease with Immunodeficiency

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 79124disease definitionhepatic veno-occlusive disease-immunodeficiencysyndrome 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.epidemiologyprevalence at birth is 1/2 500 in the lebanese population, 25 cases having been described in a 30-year period.etiologymutations in the gene coding pml nuclear body protein sp110 were found to be responsible for this association.genetic counselingtransmission is autosomal recessive.prognosismortality reaches 85% if the syndrome remains unrecognised and untreated.visit the orphanet disease page for more resources. last updated: 7/24/2006

MalaCards based summary : Hepatic Venoocclusive Disease with Immunodeficiency, also known as vodi, is related to hepatitis and hepatic veno-occlusive disease, and has symptoms including microcephaly, immunodeficiency and endocardial fibrosis. An important gene associated with Hepatic Venoocclusive Disease with Immunodeficiency is SP110 (SP110 Nuclear Body Protein). The drugs alemtuzumab and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include lymph node, b cells and liver.

UniProtKB/Swiss-Prot : 71 Hepatic venoocclusive disease with immunodeficiency: Autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. The immunodeficiency is characterized by severe hypogammaglobulinemia, combined T and B-cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells.

Genetics Home Reference : 25 Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a hereditary disorder of the liver and immune system. Its signs and symptoms appear after the first few months of life.

OMIM : 54
Hepatic venoocclusive disease with immunodeficiency syndrome (VODI) is an autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. The immunodeficiency is characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells (summary by Roscioli et al., 2006). (235550)

GeneReviews: NBK1271

Related Diseases for Hepatic Venoocclusive Disease with Immunodeficiency

Diseases related to Hepatic Venoocclusive Disease with Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hepatitis 10.1
2 hepatic veno-occlusive disease 10.1

Symptoms & Phenotypes for Hepatic Venoocclusive Disease with Immunodeficiency

Symptoms via clinical synopsis from OMIM:

54

Cardiac:
endocardial fibrosis

Immunology:
mature plasma cell deficiency
lymphoid germinal center defect
multiple infections
hypogammaglobulinemia
immunodeficiency

HEENT:
microcephaly

Liver:
venoocclusive disease


Clinical features from OMIM:

235550

Human phenotypes related to Hepatic Venoocclusive Disease with Immunodeficiency:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 immunodeficiency 32 HP:0002721
3 endocardial fibrosis 32 HP:0006685
4 igg deficiency 32 HP:0004315
5 abnormality of the liver 32 HP:0001392
6 absence of lymph node germinal center 32 HP:0002849

Drugs & Therapeutics for Hepatic Venoocclusive Disease with Immunodeficiency

Drugs for Hepatic Venoocclusive Disease with Immunodeficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
2
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
3
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
4
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
5
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
6
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
7
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
8
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
9
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
10
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
11 Thiotepa Approved Phase 1, Phase 2 52-24-4 5453
12 Alkylating Agents Phase 1, Phase 2
13 Antiemetics Phase 1, Phase 2
14 Anti-Inflammatory Agents Phase 1, Phase 2
15 Antimetabolites Phase 1, Phase 2
16 Antimetabolites, Antineoplastic Phase 1, Phase 2
17 Antineoplastic Agents, Hormonal Phase 1, Phase 2
18 Antirheumatic Agents Phase 1, Phase 2
19 Autonomic Agents Phase 1, Phase 2
20 Calcineurin Inhibitors Phase 1, Phase 2
21 Gastrointestinal Agents Phase 1, Phase 2
22 glucocorticoids Phase 1, Phase 2
23 Hormone Antagonists Phase 1, Phase 2
24 Hormones Phase 1, Phase 2
25 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
26 Immunosuppressive Agents Phase 1, Phase 2
27 Liver Extracts Phase 1, Phase 2
28 Methylprednisolone acetate Phase 1, Phase 2
29 Methylprednisolone Hemisuccinate Phase 1, Phase 2
30 Neuroprotective Agents Phase 1, Phase 2
31 Peripheral Nervous System Agents Phase 1, Phase 2
32 Pharmaceutical Solutions Phase 1, Phase 2
33 Prednisolone acetate Phase 1, Phase 2
34 Prednisolone hemisuccinate Phase 1, Phase 2
35 Prednisolone phosphate Phase 1, Phase 2
36 Protective Agents Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone

Search NIH Clinical Center for Hepatic Venoocclusive Disease with Immunodeficiency

Genetic Tests for Hepatic Venoocclusive Disease with Immunodeficiency

Genetic tests related to Hepatic Venoocclusive Disease with Immunodeficiency:

id Genetic test Affiliating Genes
1 Hepatic Venoocclusive Disease with Immunodeficiency 29
2 Hepatic Veno-Occlusive Disease with Immunodeficiency 24 SP110

Anatomical Context for Hepatic Venoocclusive Disease with Immunodeficiency

MalaCards organs/tissues related to Hepatic Venoocclusive Disease with Immunodeficiency:

39
Lymph Node, B Cells, Liver, T Cells

Publications for Hepatic Venoocclusive Disease with Immunodeficiency

Variations for Hepatic Venoocclusive Disease with Immunodeficiency

ClinVar genetic disease variations for Hepatic Venoocclusive Disease with Immunodeficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SP110 NM_080424.2(SP110): c.642delC (p.Ser215Alafs) deletion Pathogenic rs397515361 GRCh37 Chromosome 2, 231077087: 231077087
2 SP110 NM_080424.2(SP110): c.40delC (p.Gln14Serfs) deletion Pathogenic rs397515362 GRCh37 Chromosome 2, 231081603: 231081603
3 SP110 NM_080424.2(SP110): c.319_325dupGGTGCTT (p.Ser109Trpfs) duplication Pathogenic rs397515569 GRCh37 Chromosome 2, 231077734: 231077740
4 SP110 NM_080424.2(SP110): c.373delA (p.Thr125Leufs) deletion Pathogenic rs397515570 GRCh37 Chromosome 2, 231077686: 231077686
5 SP110 NM_080424.2(SP110): c.667+1dup duplication Pathogenic rs397515571 GRCh37 Chromosome 2, 231077061: 231077061
6 SP110 NM_080424.2(SP110): c.78_79delCAinsAT (p.Ile27Leu) indel Pathogenic rs397515572 GRCh37 Chromosome 2, 231081564: 231081565
7 SP110 NM_004509.3(SP110): c.877A> T (p.Lys293Ter) single nucleotide variant Likely pathogenic rs199845488 GRCh37 Chromosome 2, 231072727: 231072727

Expression for Hepatic Venoocclusive Disease with Immunodeficiency

Search GEO for disease gene expression data for Hepatic Venoocclusive Disease with Immunodeficiency.

Pathways for Hepatic Venoocclusive Disease with Immunodeficiency

GO Terms for Hepatic Venoocclusive Disease with Immunodeficiency

Sources for Hepatic Venoocclusive Disease with Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 MedGen
42 MeSH
43 MESH via Orphanet
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46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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