MCID: HPT077
MIFTS: 26

Hepatic Venoocclusive Disease with Immunodeficiency

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

Aliases & Classifications for Hepatic Venoocclusive Disease with Immunodeficiency

MalaCards integrated aliases for Hepatic Venoocclusive Disease with Immunodeficiency:

Name: Hepatic Venoocclusive Disease with Immunodeficiency 53 49 24 71 36 28 13 69
Vodi 53 23 49 24 71
Hepatic Veno-Occlusive Disease with Immunodeficiency 23 24
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome 55
Familial Veno-Occlusive Disease with Immunodeficiency 24
Veno-Occlusive Disease and Immunodeficiency Syndrome 24
Vodi Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive


HPO:

31
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 53 235550
Orphanet 55 ORPHA79124
UMLS via Orphanet 70 C1856128
ICD10 via Orphanet 33 K76.5
MedGen 39 C1856128
KEGG 36 H01264
UMLS 69 C1856128

Summaries for Hepatic Venoocclusive Disease with Immunodeficiency

NIH Rare Diseases : 49 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 abnormality of the liver. An important gene associated with Hepatic Venoocclusive Disease with Immunodeficiency is SP110 (SP110 Nuclear Body Protein). Affiliated tissues include lymph node, b cells and liver.

OMIM : 53 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)

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 : 24 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.

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:

# Related Disease Score Top Affiliating Genes
1 hepatitis 9.9
2 hepatic veno-occlusive disease 9.9

Symptoms & Phenotypes for Hepatic Venoocclusive Disease with Immunodeficiency

Symptoms via clinical synopsis from OMIM:

53
Liver:
venoocclusive disease

HEENT:
microcephaly

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

Cardiac:
endocardial fibrosis


Clinical features from OMIM:

235550

Human phenotypes related to Hepatic Venoocclusive Disease with Immunodeficiency:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 immunodeficiency 31 HP:0002721
3 abnormality of the liver 31 HP:0001392
4 igg deficiency 31 HP:0004315
5 absence of lymph node germinal center 31 HP:0002849
6 endocardial fibrosis 31 HP:0006685

Drugs & Therapeutics for Hepatic Venoocclusive Disease with Immunodeficiency

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Hepatic Venoocclusive Disease with Immunodeficiency 28 SP110

Anatomical Context for Hepatic Venoocclusive Disease with Immunodeficiency

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

38
Lymph Node, B Cells, Liver, T Cells

Publications for Hepatic Venoocclusive Disease with Immunodeficiency

Articles related to Hepatic Venoocclusive Disease with Immunodeficiency:

# Title Authors Year
1
Hepatic veno-occlusive disease with immunodeficiency (VODI): first reported case in the U.S. and identification of a unique mutation in Sp110. ( 22982295 )
2012
2
Hepatic Veno-Occlusive Disease with Immunodeficiency ( 20301448 )
1993

Variations for Hepatic Venoocclusive Disease with Immunodeficiency

ClinVar genetic disease variations for Hepatic Venoocclusive Disease with Immunodeficiency:

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

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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