VODI
MCID: HPT077
MIFTS: 29

Hepatic Venoocclusive Disease with Immunodeficiency (VODI)

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

Aliases & Classifications for Hepatic Venoocclusive Disease with Immunodeficiency

MalaCards integrated aliases for Hepatic Venoocclusive Disease with Immunodeficiency:

Name: Hepatic Venoocclusive Disease with Immunodeficiency 58 54 26 76 38 30 13 6 41 74
Vodi 58 25 54 26 76
Hepatic Veno-Occlusive Disease with Immunodeficiency 25 26
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome 60
Familial Veno-Occlusive Disease with Immunodeficiency 26
Veno-Occlusive Disease and Immunodeficiency Syndrome 26
Vodi Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive


HPO:

33
hepatic venoocclusive disease with immunodeficiency:
Inheritance autosomal recessive inheritance


GeneReviews:

25
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 58 235550
KEGG 38 H01264
ICD10 via Orphanet 35 K76.5
UMLS via Orphanet 75 C1856128
Orphanet 60 ORPHA79124
MedGen 43 C1856128
UMLS 74 C1856128

Summaries for Hepatic Venoocclusive Disease with Immunodeficiency

NIH Rare Diseases : 54 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 crohn's disease. An important gene associated with Hepatic Venoocclusive Disease with Immunodeficiency is SP110 (SP110 Nuclear Body Protein). Affiliated tissues include b cells, lymph node and liver, and related phenotypes are microcephaly and absence of lymph node germinal center

Genetics Home Reference : 26 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 : 58 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 : 76 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 11.6
2 crohn's disease 10.1
3 crohn's colitis 10.1

Symptoms & Phenotypes for Hepatic Venoocclusive Disease with Immunodeficiency

Human phenotypes related to Hepatic Venoocclusive Disease with Immunodeficiency:

60 33 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 60 33 Very rare (<4-1%) HP:0000252
2 absence of lymph node germinal center 60 33 Frequent (79-30%) HP:0002849
3 recurrent respiratory infections 60 Frequent (79-30%)
4 hepatomegaly 60 Frequent (79-30%)
5 portal hypertension 60 Occasional (29-5%)
6 pulmonary fibrosis 60 Occasional (29-5%)
7 immunodeficiency 33 HP:0002721
8 ascites 60 Occasional (29-5%)
9 anemia 60 Occasional (29-5%)
10 pancytopenia 60 Occasional (29-5%)
11 failure to thrive in infancy 60 Frequent (79-30%)
12 elevated hepatic transaminases 60 Occasional (29-5%)
13 thrombocytopenia 60 Occasional (29-5%)
14 jaundice 60 Occasional (29-5%)
15 generalized tonic-clonic seizures 60 Occasional (29-5%)
16 diarrhea 60 Occasional (29-5%)
17 cough 60 Frequent (79-30%)
18 abnormality of the liver 33 HP:0001392
19 recurrent viral infections 60 Frequent (79-30%)
20 decrease in t cell count 60 Frequent (79-30%)
21 leukodystrophy 60 Occasional (29-5%)
22 hemiparesis 60 Occasional (29-5%)
23 urinary retention 60 Occasional (29-5%)
24 paraparesis 60 Occasional (29-5%)
25 hepatosplenomegaly 60 Frequent (79-30%)
26 chronic hepatic failure 60 Occasional (29-5%)
27 paraplegia 60 Occasional (29-5%)
28 panhypogammaglobulinemia 60 Very frequent (99-80%)
29 chronic mucocutaneous candidiasis 60 Occasional (29-5%)
30 pulmonary hemorrhage 60 Occasional (29-5%)
31 recurrent aspiration pneumonia 60 Occasional (29-5%)
32 recurrent ear infections 60 Occasional (29-5%)
33 abnormal serum interferon-gamma level 60 Very frequent (99-80%)
34 recurrent abscess formation 60 Occasional (29-5%)
35 abnormal serum interleukin level 60 Very frequent (99-80%)
36 abnormal lymphocyte count 60 Very frequent (99-80%)
37 recurrent enteroviral infections 60 Frequent (79-30%)
38 decreased memory b cell count 60 Frequent (79-30%)
39 recurrent gastroenteritis 60 Frequent (79-30%)
40 inappropriate antidiuretic hormone secretion 60 Occasional (29-5%)
41 abnormality of natural killer cell number 60 Very rare (<4-1%)
42 endocardial fibrosis 33 HP:0006685
43 decreased circulating igg level 33 HP:0004315

Symptoms via clinical synopsis from OMIM:

58
H E E N T:
microcephaly

Liver:
venoocclusive disease

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

Cardiac:
endocardial fibrosis

Clinical features from OMIM:

235550

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

27
# 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 30 SP110

Anatomical Context for Hepatic Venoocclusive Disease with Immunodeficiency

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

42
B Cells, Lymph Node, 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
Decreased IL-10 production by EBV-transformed B cells from patients with VODI: implications for the pathogenesis of Crohn disease. ( 22341038 )
2012
3
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 129)
# Gene Variation Type Significance SNP ID Assembly Location
1 SP110 NM_004509.3(SP110): c.877A> T (p.Lys293Ter) single nucleotide variant Likely pathogenic rs199845488 GRCh37 Chromosome 2, 231072727: 231072727
2 SP110 NM_004509.3(SP110): c.877A> T (p.Lys293Ter) single nucleotide variant Likely pathogenic rs199845488 GRCh38 Chromosome 2, 230208012: 230208012
3 SP110 NM_080424.2(SP110): c.642delC (p.Ser215Alafs) deletion Pathogenic rs397515361 GRCh37 Chromosome 2, 231077087: 231077087
4 SP110 NM_080424.2(SP110): c.642delC (p.Ser215Alafs) deletion Pathogenic rs397515361 GRCh38 Chromosome 2, 230212372: 230212372
5 SP110 NM_080424.2(SP110): c.40delC (p.Gln14Serfs) deletion Pathogenic rs397515362 GRCh37 Chromosome 2, 231081603: 231081603
6 SP110 NM_080424.2(SP110): c.40delC (p.Gln14Serfs) deletion Pathogenic rs397515362 GRCh38 Chromosome 2, 230216888: 230216888
7 SP110 NM_080424.2(SP110): c.319_325dupGGTGCTT (p.Ser109Trpfs) duplication Pathogenic rs397515569 GRCh37 Chromosome 2, 231077734: 231077740
8 SP110 NM_080424.2(SP110): c.319_325dupGGTGCTT (p.Ser109Trpfs) duplication Pathogenic rs397515569 GRCh38 Chromosome 2, 230213019: 230213025
9 SP110 NM_080424.2(SP110): c.373delA (p.Thr125Leufs) deletion Pathogenic rs397515570 GRCh37 Chromosome 2, 231077686: 231077686
10 SP110 NM_080424.2(SP110): c.373delA (p.Thr125Leufs) deletion Pathogenic rs397515570 GRCh38 Chromosome 2, 230212971: 230212971
11 SP110 NM_080424.2(SP110): c.667+1dup duplication Pathogenic rs397515571 GRCh37 Chromosome 2, 231077061: 231077061
12 SP110 NM_080424.2(SP110): c.667+1dup duplication Pathogenic rs397515571 GRCh38 Chromosome 2, 230212346: 230212346
13 SP110; SP140 NM_080424.2(SP110): c.78_79delCAinsAT (p.Ile27Leu) indel Pathogenic rs397515572 GRCh37 Chromosome 2, 231081564: 231081565
14 SP110; SP140 NM_080424.2(SP110): c.78_79delCAinsAT (p.Ile27Leu) indel Pathogenic rs397515572 GRCh38 Chromosome 2, 230216849: 230216850
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 rs1553839905 GRCh38 Chromosome 2, 230168918: 230168918
18 SP110 NM_004509.3(SP110): c.*206delA deletion Uncertain significance rs1553839905 GRCh37 Chromosome 2, 231033634: 231033634
19 SP110 NM_004509.3(SP110): c.1737G> A (p.Met579Ile) single nucleotide variant Benign/Likely benign rs3948463 GRCh38 Chromosome 2, 230172144: 230172144
20 SP110 NM_004509.3(SP110): c.1737G> A (p.Met579Ile) single nucleotide variant Benign/Likely benign rs3948463 GRCh37 Chromosome 2, 231036860: 231036860
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 GRCh38 Chromosome 2, 230169144: 230169144
32 SP110 NM_004509.3(SP110): c.2050G> A (p.Gly684Ser) single nucleotide variant Uncertain significance rs181058279 GRCh37 Chromosome 2, 231033860: 231033860
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 GRCh38 Chromosome 2, 230169212: 230169212
44 SP110 NM_004509.3(SP110): c.1982T> C (p.Leu661Pro) single nucleotide variant Uncertain significance rs114501363 GRCh37 Chromosome 2, 231033928: 231033928
45 SP110 NM_004509.3(SP110): c.1957-7_1957-6delCT deletion Uncertain significance rs773164340 GRCh38 Chromosome 2, 230169243: 230169244
46 SP110 NM_004509.3(SP110): c.1957-7_1957-6delCT deletion Uncertain significance rs773164340 GRCh37 Chromosome 2, 231033959: 231033960
47 SP110 NM_004509.3(SP110): c.1815+14A> G single nucleotide variant Benign/Likely benign rs34034766 GRCh38 Chromosome 2, 230172052: 230172052
48 SP110 NM_004509.3(SP110): c.1815+14A> G single nucleotide variant Benign/Likely benign rs34034766 GRCh37 Chromosome 2, 231036768: 231036768
49 SP110 NM_004509.3(SP110): c.1731C> T (p.Cys577=) single nucleotide variant Benign/Likely benign rs13018234 GRCh38 Chromosome 2, 230172150: 230172150
50 SP110 NM_004509.3(SP110): c.1731C> T (p.Cys577=) single nucleotide variant Benign/Likely benign rs13018234 GRCh37 Chromosome 2, 231036866: 231036866

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

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