MCID: HPT077
MIFTS: 28

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 57 53 25 75 37 29 13 6 40 73
Vodi 57 24 53 25 75
Hepatic Veno-Occlusive Disease with Immunodeficiency 24 25
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome 59
Familial Veno-Occlusive Disease with Immunodeficiency 25
Veno-Occlusive Disease and Immunodeficiency Syndrome 25
Vodi Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive


HPO:

32
hepatic venoocclusive disease with immunodeficiency:
Inheritance autosomal recessive inheritance


GeneReviews:

24
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 57 235550
Orphanet 59 ORPHA79124
UMLS via Orphanet 74 C1856128
ICD10 via Orphanet 34 K76.5
MedGen 42 C1856128
KEGG 37 H01264
UMLS 73 C1856128

Summaries for Hepatic Venoocclusive Disease with Immunodeficiency

NIH Rare Diseases : 53 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.

MalaCards based summary : Hepatic Venoocclusive Disease with Immunodeficiency, also known as vodi, is related to hepatic veno-occlusive disease and hepatitis. 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, and related phenotypes are microcephaly and abnormality of the liver

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 : 57 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 : 75 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.

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 hepatic veno-occlusive disease 11.4
2 hepatitis 9.9

Symptoms & Phenotypes for Hepatic Venoocclusive Disease with Immunodeficiency

Symptoms via clinical synopsis from OMIM:

57
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:

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

GenomeRNAi Phenotypes related to Hepatic Venoocclusive Disease with Immunodeficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased epidermal growth factor receptor (EGFR) surface abundance GR00355-A 8.62 SP110 SP140

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 29 SP110

Anatomical Context for Hepatic Venoocclusive Disease with Immunodeficiency

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

41
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
(show top 50) (show all 111)
# 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.642delC (p.Ser215Alafs) deletion Pathogenic rs397515361 GRCh38 Chromosome 2, 230212372: 230212372
3 SP110 NM_080424.2(SP110): c.40delC (p.Gln14Serfs) deletion Pathogenic rs397515362 GRCh37 Chromosome 2, 231081603: 231081603
4 SP110 NM_080424.2(SP110): c.40delC (p.Gln14Serfs) deletion Pathogenic rs397515362 GRCh38 Chromosome 2, 230216888: 230216888
5 SP110 NM_080424.2(SP110): c.319_325dupGGTGCTT (p.Ser109Trpfs) duplication Pathogenic rs397515569 GRCh37 Chromosome 2, 231077734: 231077740
6 SP110 NM_080424.2(SP110): c.319_325dupGGTGCTT (p.Ser109Trpfs) duplication Pathogenic rs397515569 GRCh38 Chromosome 2, 230213019: 230213025
7 SP110 NM_080424.2(SP110): c.373delA (p.Thr125Leufs) deletion Pathogenic rs397515570 GRCh37 Chromosome 2, 231077686: 231077686
8 SP110 NM_080424.2(SP110): c.373delA (p.Thr125Leufs) deletion Pathogenic rs397515570 GRCh38 Chromosome 2, 230212971: 230212971
9 SP110 NM_080424.2(SP110): c.667+1dup duplication Pathogenic rs397515571 GRCh37 Chromosome 2, 231077061: 231077061
10 SP110 NM_080424.2(SP110): c.667+1dup duplication Pathogenic rs397515571 GRCh38 Chromosome 2, 230212346: 230212346
11 SP110 NM_080424.2(SP110): c.78_79delCAinsAT (p.Ile27Leu) indel Pathogenic rs397515572 GRCh37 Chromosome 2, 231081564: 231081565
12 SP110 NM_080424.2(SP110): c.78_79delCAinsAT (p.Ile27Leu) indel Pathogenic rs397515572 GRCh38 Chromosome 2, 230216849: 230216850
13 SP110 NM_004509.3(SP110): c.877A> T (p.Lys293Ter) single nucleotide variant Likely pathogenic rs199845488 GRCh37 Chromosome 2, 231072727: 231072727
14 SP110 NM_004509.3(SP110): c.877A> T (p.Lys293Ter) single nucleotide variant Likely pathogenic rs199845488 GRCh38 Chromosome 2, 230208012: 230208012
15 SP110 NM_004509.3(SP110): c.1100C> T (p.Thr367Met) single nucleotide variant Benign/Likely benign rs59573011 GRCh37 Chromosome 2, 231065630: 231065630
16 SP110 NM_004509.3(SP110): c.1100C> T (p.Thr367Met) single nucleotide variant Benign/Likely benign rs59573011 GRCh38 Chromosome 2, 230200914: 230200914
17 SP110 NM_004509.3(SP110): c.*206delA deletion Uncertain significance rs878891649 GRCh38 Chromosome 2, 230168918: 230168918
18 SP110 NM_004509.3(SP110): c.*206delA deletion Uncertain significance rs878891649 GRCh37 Chromosome 2, 231033634: 231033634
19 SP110 NM_004509.3(SP110): c.1737G> A (p.Met579Ile) single nucleotide variant Benign/Likely benign rs3948463 GRCh37 Chromosome 2, 231036860: 231036860
20 SP110 NM_004509.3(SP110): c.1737G> A (p.Met579Ile) single nucleotide variant Benign/Likely benign rs3948463 GRCh38 Chromosome 2, 230172144: 230172144
21 SP110 NM_004509.3(SP110): c.1200C> T (p.Asp400=) single nucleotide variant Uncertain significance rs115361843 GRCh38 Chromosome 2, 230186073: 230186073
22 SP110 NM_004509.3(SP110): c.1200C> T (p.Asp400=) single nucleotide variant Uncertain significance rs115361843 GRCh37 Chromosome 2, 231050789: 231050789
23 SP110 NM_004509.3(SP110): c.900G> A (p.Gly300=) single nucleotide variant Uncertain significance rs886055765 GRCh38 Chromosome 2, 230202727: 230202727
24 SP110 NM_004509.3(SP110): c.900G> A (p.Gly300=) single nucleotide variant Uncertain significance rs886055765 GRCh37 Chromosome 2, 231067443: 231067443
25 SP110 NM_004509.3(SP110): c.376G> A (p.Gly126Ser) single nucleotide variant Benign/Likely benign rs41309088 GRCh38 Chromosome 2, 230212968: 230212968
26 SP110 NM_004509.3(SP110): c.376G> A (p.Gly126Ser) single nucleotide variant Benign/Likely benign rs41309088 GRCh37 Chromosome 2, 231077683: 231077683
27 SP110 NM_004509.3(SP110): c.237T> G (p.Ser79=) single nucleotide variant Uncertain significance rs202135641 GRCh38 Chromosome 2, 230215029: 230215029
28 SP110 NM_004509.3(SP110): c.237T> G (p.Ser79=) single nucleotide variant Uncertain significance rs202135641 GRCh37 Chromosome 2, 231079744: 231079744
29 SP110 NM_004509.3(SP110): c.2066C> G (p.Pro689Arg) single nucleotide variant Uncertain significance rs200225863 GRCh38 Chromosome 2, 230169128: 230169128
30 SP110 NM_004509.3(SP110): c.2066C> G (p.Pro689Arg) single nucleotide variant Uncertain significance rs200225863 GRCh37 Chromosome 2, 231033844: 231033844
31 SP110 NM_004509.3(SP110): c.2050G> A (p.Gly684Ser) single nucleotide variant Uncertain significance rs181058279 GRCh37 Chromosome 2, 231033860: 231033860
32 SP110 NM_004509.3(SP110): c.2050G> A (p.Gly684Ser) single nucleotide variant Uncertain significance rs181058279 GRCh38 Chromosome 2, 230169144: 230169144
33 SP110 NM_004509.3(SP110): c.1447G> A (p.Gly483Arg) single nucleotide variant Benign/Likely benign rs149485401 GRCh38 Chromosome 2, 230178157: 230178157
34 SP110 NM_004509.3(SP110): c.1447G> A (p.Gly483Arg) single nucleotide variant Benign/Likely benign rs149485401 GRCh37 Chromosome 2, 231042873: 231042873
35 SP110 NM_004509.3(SP110): c.1173G> A (p.Val391=) single nucleotide variant Uncertain significance rs886055764 GRCh38 Chromosome 2, 230186100: 230186100
36 SP110 NM_004509.3(SP110): c.1173G> A (p.Val391=) single nucleotide variant Uncertain significance rs886055764 GRCh37 Chromosome 2, 231050816: 231050816
37 SP110 NM_004509.3(SP110): c.1038G> C (p.Ser346=) single nucleotide variant Benign rs7606916 GRCh38 Chromosome 2, 230202589: 230202589
38 SP110 NM_004509.3(SP110): c.1038G> C (p.Ser346=) single nucleotide variant Benign rs7606916 GRCh37 Chromosome 2, 231067305: 231067305
39 SP110 NM_004509.3(SP110): c.619G> A (p.Glu207Lys) single nucleotide variant Benign rs9061 GRCh38 Chromosome 2, 230212395: 230212395
40 SP110 NM_004509.3(SP110): c.619G> A (p.Glu207Lys) single nucleotide variant Benign rs9061 GRCh37 Chromosome 2, 231077110: 231077110
41 SP110 NM_004509.3(SP110): c.584-9C> T single nucleotide variant Benign rs41309096 GRCh38 Chromosome 2, 230212439: 230212439
42 SP110 NM_004509.3(SP110): c.584-9C> T single nucleotide variant Benign rs41309096 GRCh37 Chromosome 2, 231077154: 231077154
43 SP110 NM_004509.3(SP110): c.1982T> C (p.Leu661Pro) single nucleotide variant Uncertain significance rs114501363 GRCh37 Chromosome 2, 231033928: 231033928
44 SP110 NM_004509.3(SP110): c.1982T> C (p.Leu661Pro) single nucleotide variant Uncertain significance rs114501363 GRCh38 Chromosome 2, 230169212: 230169212
45 SP110 NM_004509.3(SP110): c.1957-7_1957-6delCT deletion Uncertain significance rs773164340 GRCh37 Chromosome 2, 231033959: 231033960
46 SP110 NM_004509.3(SP110): c.1957-7_1957-6delCT deletion Uncertain significance rs773164340 GRCh38 Chromosome 2, 230169243: 230169244
47 SP110 NM_004509.3(SP110): c.1815+14A> G single nucleotide variant Benign/Likely benign rs34034766 GRCh37 Chromosome 2, 231036768: 231036768
48 SP110 NM_004509.3(SP110): c.1815+14A> G single nucleotide variant Benign/Likely benign rs34034766 GRCh38 Chromosome 2, 230172052: 230172052
49 SP110 NM_004509.3(SP110): c.1731C> T (p.Cys577=) single nucleotide variant Benign/Likely benign rs13018234 GRCh37 Chromosome 2, 231036866: 231036866
50 SP110 NM_004509.3(SP110): c.1731C> T (p.Cys577=) single nucleotide variant Benign/Likely benign rs13018234 GRCh38 Chromosome 2, 230172150: 230172150

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

Biological processes related to Hepatic Venoocclusive Disease with Immunodeficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin remodeling GO:0006338 8.62 SP110 SP140

Molecular functions related to Hepatic Venoocclusive Disease with Immunodeficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 8.62 SP110 SP140

Sources for Hepatic Venoocclusive Disease with Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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