VODI
MCID: HPT077
MIFTS: 40

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 57 12 20 43 72 36 13 39 70
Vodi 57 12 25 20 43 72
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome 12 58 29 6
Hepatic Veno-Occlusive Disease with Immunodeficiency 25 43
Familial Veno-Occlusive Disease with Immunodeficiency 43
Veno-Occlusive Disease and Immunodeficiency Syndrome 43
Vodi Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
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:

Orphanet: 58  
Rare hepatic diseases
Rare immunological diseases


Summaries for Hepatic Venoocclusive Disease with Immunodeficiency

MedlinePlus Genetics : 43 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.Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in this organ. This condition can lead to enlargement of the liver (hepatomegaly), a buildup of scar tissue (hepatic fibrosis), and liver failure.Children with VODI are prone to recurrent infections caused by certain bacteria, viruses, and fungi. The organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. These infections are usually serious and may be life-threatening. In most people with VODI, infections occur before hepatic veno-occlusive disease becomes evident.Many people with VODI live only into childhood, although some affected individuals have lived to early adulthood.

MalaCards based summary : Hepatic Venoocclusive Disease with Immunodeficiency, also known as vodi, is related to hepatic veno-occlusive disease and leukodystrophy. An important gene associated with Hepatic Venoocclusive Disease with Immunodeficiency is SP110 (SP110 Nuclear Body Protein). Affiliated tissues include liver, lymph node and b cells, and related phenotypes are abnormal serum interferon-gamma level and panhypogammaglobulinemia

Disease Ontology : 12 A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has material basis in homozygous or compound heterozygous mutation in SP110 on chromosome 2q37.1.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79124 Definition Hepatic veno-occlusive disease- immunodeficiency syndrome 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. Epidemiology Prevalence at birth is 1/2 500 in the Lebanese population, 25 cases having been described in a 30-year period. Etiology Mutations in the gene coding PML nuclear body protein Sp110 were found to be responsible for this association. Genetic counseling Transmission is autosomal recessive. Prognosis Mortality reaches 85% if the syndrome remains unrecognised and untreated.

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) (Updated 20-May-2021)

KEGG : 36 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.

UniProtKB/Swiss-Prot : 72 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 hepatic veno-occlusive disease 29.1 SP140 SP110
2 leukodystrophy 10.2
3 candidiasis 10.2
4 agammaglobulinemia 10.2
5 liver disease 10.2
6 immune deficiency disease 9.9
7 crohn's colitis 9.9
8 combined immunodeficiency 9.9
9 tetanus 9.9
10 pancytopenia 9.9
11 severe combined immunodeficiency 9.9
12 crohn's disease 9.9

Graphical network of the top 20 diseases related to Hepatic Venoocclusive Disease with Immunodeficiency:



Diseases related to Hepatic Venoocclusive Disease with Immunodeficiency

Symptoms & Phenotypes for Hepatic Venoocclusive Disease with Immunodeficiency

Human phenotypes related to Hepatic Venoocclusive Disease with Immunodeficiency:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal serum interferon-gamma level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030355
2 panhypogammaglobulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003139
3 abnormal serum interleukin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030782
4 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
5 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
6 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
7 cough 58 31 frequent (33%) Frequent (79-30%) HP:0012735
8 hepatosplenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001433
9 absence of lymph node germinal center 58 31 frequent (33%) Frequent (79-30%) HP:0002849
10 recurrent enteroviral infections 58 31 frequent (33%) Frequent (79-30%) HP:0002743
11 decreased proportion of memory b cells 58 31 frequent (33%) Frequent (79-30%) HP:0030374
12 recurrent gastroenteritis 58 31 frequent (33%) Frequent (79-30%) HP:0031123
13 t lymphocytopenia 31 frequent (33%) HP:0005403
14 portal hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001409
15 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
16 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
17 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
18 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
19 pulmonary fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002206
20 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
21 leukodystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002415
22 hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001269
23 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014
24 pancytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001876
25 urinary retention 58 31 occasional (7.5%) Occasional (29-5%) HP:0000016
26 recurrent aspiration pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002100
27 paraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002385
28 chronic hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0100626
29 chronic mucocutaneous candidiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002728
30 paraplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010550
31 pulmonary hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0040223
32 inappropriate antidiuretic hormone secretion 58 31 occasional (7.5%) Occasional (29-5%) HP:0031218
33 recurrent ear infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0410018
34 recurrent abscess formation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002722
35 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
36 microcephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000252
37 abnormal natural killer cell count 58 31 very rare (1%) Very rare (<4-1%) HP:0040089
38 immunodeficiency 31 HP:0002721
39 abnormality of the liver 31 HP:0001392
40 generalized tonic-clonic seizures 58 Occasional (29-5%)
41 decreased circulating igg level 31 HP:0004315
42 recurrent viral infections 58 Frequent (79-30%)
43 decrease in t cell count 58 Frequent (79-30%)
44 abnormal lymphocyte count 58 Very frequent (99-80%)
45 endocardial fibrosis 31 HP:0006685

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
H E E N T:
microcephaly

Cardiac:
endocardial fibrosis

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

Liver:
venoocclusive disease

Clinical features from OMIM®:

235550 (Updated 20-May-2021)

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 Veno-Occlusive Disease-Immunodeficiency Syndrome 29 SP110

Anatomical Context for Hepatic Venoocclusive Disease with Immunodeficiency

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

40
Liver, Lymph Node, B Cells, Bone Marrow, Bone

Publications for Hepatic Venoocclusive Disease with Immunodeficiency

Articles related to Hepatic Venoocclusive Disease with Immunodeficiency:

(show all 24)
# Title Authors PMID Year
1
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. 57 25 6
16648851 2006
2
Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome. 6 25 61
22621957 2012
3
Familial hepatic venoocclusive disease with probable immune deficiency. 25 57
1249685 1976
4
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. 6
27577878 2017
5
The role of hematopoietic stem cell transplantation in SP110 associated veno-occlusive disease with immunodeficiency syndrome. 25 61
23448538 2013
6
Hepatic veno-occlusive disease with immunodeficiency (VODI): first reported case in the U.S. and identification of a unique mutation in Sp110. 25 61
22982295 2012
7
Senecio poisoning exhibiting as Chiari's syndrome; a report on twelve cases. 57
14868767 1951
8
Stem cell transplantation in children with infantile osteopetrosis is associated with a high incidence of VOD, which could be prevented with defibrotide. 25
16953210 2006
9
The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation. 25
15834437 2005
10
Genomic screening and complications of hematopoietic stem cell transplantation: has the time come? 25
15489868 2005
11
Glutathione S-transferase M1 polymorphism: a risk factor for hepatic venoocclusive disease in bone marrow transplantation. 25
15142875 2004
12
Modulation of retinoid signaling by a cytoplasmic viral protein via sequestration of Sp110b, a potent transcriptional corepressor of retinoic acid receptor, from the nucleus. 25
14559998 2003
13
Sp110 localizes to the PML-Sp100 nuclear body and may function as a nuclear hormone receptor transcriptional coactivator. 25
10913195 2000
14
Hepatic veno-occlusive disease in ataxia-telangiectasia. 25
10356154 1999
15
Hepatic veno-occlusive lesions in severe alcoholic hepatitis and alcoholic liver cirrhosis: a comparative histopathological study in autopsy cases. 25
10235278 1999
16
Association of hepatic veno-occlusive disease with the acquired immunodeficiency syndrome. 25
7567938 1995
17
Pathology of the liver in severe combined immunodeficiency and DiGeorge syndrome. 25
8372033 1993
18
Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency. 61
32395362 2020
19
The Value of Diagnostic Information in Personalised Healthcare: A Comprehensive Concept to Facilitate Bringing This Technology into Healthcare Systems. 61
31330522 2019
20
Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency. 61
28825155 2017
21
Sinusoidal obstruction syndrome (hepatic veno-occlusive disease). 61
25755580 2014
22
Decreased IL-10 production by EBV-transformed B cells from patients with VODI: implications for the pathogenesis of Crohn disease. 61
22341038 2012
23
The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110. 61
17510920 2007
24
Hepatic Veno-Occlusive Disease with Immunodeficiency 61
20301448 2007

Variations for Hepatic Venoocclusive Disease with Immunodeficiency

ClinVar genetic disease variations for Hepatic Venoocclusive Disease with Immunodeficiency:

6 (show top 50) (show all 175)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SP110 , SP140 NM_004509.4(SP110):c.642del (p.Ser215fs) Deletion Pathogenic 5537 rs397515361 GRCh37: 2:231077087-231077087
GRCh38: 2:230212372-230212372
2 SP110 , SP140 NM_004509.4(SP110):c.40del (p.Gln14fs) Deletion Pathogenic 5538 rs397515362 GRCh37: 2:231081603-231081603
GRCh38: 2:230216888-230216888
3 SP110 , SP140 NM_004509.4(SP110):c.319_325dup (p.Ser109fs) Duplication Pathogenic 65743 rs397515569 GRCh37: 2:231077733-231077734
GRCh38: 2:230213018-230213019
4 SP110 , SP140 NM_004509.4(SP110):c.373del (p.Thr125fs) Deletion Pathogenic 65744 rs397515570 GRCh37: 2:231077686-231077686
GRCh38: 2:230212971-230212971
5 SP110 , SP140 NM_080424.2(SP110):c.667+1dup Duplication Pathogenic 65747 rs397515571 GRCh37: 2:231077060-231077061
GRCh38: 2:230212345-230212346
6 SP110 , SP140 NM_004509.4(SP110):c.78_79delinsAT (p.Ile27Leu) Indel Pathogenic 65748 rs397515572 GRCh37: 2:231081564-231081565
GRCh38: 2:230216849-230216850
7 SP110 NM_004509.4(SP110):c.1395dup (p.Val466fs) Duplication Pathogenic 574936 rs1560530550 GRCh37: 2:231042924-231042925
GRCh38: 2:230178208-230178209
8 SP110 NC_000002.12:g.(?_230176645)_(230177700_?)del Deletion Pathogenic 832842 GRCh37: 2:231041361-231042416
GRCh38:
9 SP110 NM_080424.4(SP110):c.1030C>T (p.Arg344Ter) SNV Pathogenic 840660 GRCh37: 2:231067313-231067313
GRCh38: 2:230202597-230202597
10 SP110 , SP140 NM_080424.4(SP110):c.686dup (p.Gln231fs) Duplication Pathogenic 862894 GRCh37: 2:231076249-231076250
GRCh38: 2:230211534-230211535
11 SP110 NM_080424.4(SP110):c.1691del (p.Pro564fs) Deletion Pathogenic 971546 GRCh37: 2:231037575-231037575
GRCh38: 2:230172859-230172859
12 SP110 NM_080424.4(SP110):c.1631dup (p.Gln545fs) Duplication Pathogenic 1031430 GRCh37: 2:231037634-231037635
GRCh38: 2:230172918-230172919
13 SP110 , SP140 NM_080424.4(SP110):c.877A>T (p.Lys293Ter) SNV Likely pathogenic 189244 rs199845488 GRCh37: 2:231072727-231072727
GRCh38: 2:230208012-230208012
14 SP110 NM_080424.4(SP110):c.1891C>T (p.Arg631Ter) SNV Likely pathogenic 1028771 GRCh37: 2:231035474-231035474
GRCh38: 2:230170758-230170758
15 SP110 , SP140 NM_004509.4(SP110):c.459G>A (p.Ala153=) SNV Conflicting interpretations of pathogenicity 334916 rs201957445 GRCh37: 2:231077600-231077600
GRCh38: 2:230212885-230212885
16 SP110 NM_004509.4(SP110):c.1706+4A>T SNV Conflicting interpretations of pathogenicity 334899 rs201034113 GRCh37: 2:231037556-231037556
GRCh38: 2:230172840-230172840
17 SP110 NM_004509.4(SP110):c.1200C>T (p.Asp400=) SNV Conflicting interpretations of pathogenicity 334905 rs115361843 GRCh37: 2:231050789-231050789
GRCh38: 2:230186073-230186073
18 SP110 NM_004509.4(SP110):c.1591-9C>T SNV Conflicting interpretations of pathogenicity 522187 rs202101309 GRCh37: 2:231037684-231037684
GRCh38: 2:230172968-230172968
19 SP110 NM_004509.4(SP110):c.934C>G (p.Leu312Val) SNV Uncertain significance 534647 rs1056828943 GRCh37: 2:231067409-231067409
GRCh38: 2:230202693-230202693
20 SP110 NM_004509.4(SP110):c.1591C>T (p.Arg531Trp) SNV Uncertain significance 534648 rs200099412 GRCh37: 2:231037675-231037675
GRCh38: 2:230172959-230172959
21 SP110 NM_004509.4(SP110):c.938A>G (p.Lys313Arg) SNV Uncertain significance 534649 rs1317519602 GRCh37: 2:231067405-231067405
GRCh38: 2:230202689-230202689
22 SP110 NM_004509.4(SP110):c.1555C>T (p.Arg519Cys) SNV Uncertain significance 534650 rs765616523 GRCh37: 2:231042289-231042289
GRCh38: 2:230177573-230177573
23 SP110 NM_004509.4(SP110):c.*82G>A SNV Uncertain significance 334888 rs371157716 GRCh37: 2:231033758-231033758
GRCh38: 2:230169042-230169042
24 SP110 NM_004509.4(SP110):c.1856T>G (p.Leu619Trp) SNV Uncertain significance 334894 rs199752332 GRCh37: 2:231035437-231035437
GRCh38: 2:230170721-230170721
25 SP110 NM_004509.4(SP110):c.929A>C (p.Lys310Thr) SNV Uncertain significance 567478 rs200591551 GRCh37: 2:231067414-231067414
GRCh38: 2:230202698-230202698
26 SP110 NM_004509.4(SP110):c.1091_1092delinsAT (p.Ser364Tyr) Indel Uncertain significance 573230 rs1559162086 GRCh37: 2:231065638-231065639
GRCh38: 2:230200922-230200923
27 SP110 NM_004509.4(SP110):c.2048G>A (p.Gly683Asp) SNV Uncertain significance 334891 rs115052010 GRCh37: 2:231033862-231033862
GRCh38: 2:230169146-230169146
28 SP110 , SP140 NM_004509.4(SP110):c.550C>T (p.Pro184Ser) SNV Uncertain significance 334914 rs750052870 GRCh37: 2:231077509-231077509
GRCh38: 2:230212794-230212794
29 SP110 , SP140 NM_004509.4(SP110):c.337_341CAGAG[1] (p.Ser114fs) Microsatellite Uncertain significance 631848 rs1559178521 GRCh37: 2:231077713-231077717
GRCh38: 2:230212998-230213002
30 SP110 NM_004509.4(SP110):c.1349G>A (p.Gly450Glu) SNV Uncertain significance 641367 rs200662686 GRCh37: 2:231042971-231042971
GRCh38: 2:230178255-230178255
31 SP110 , SP140 NM_004509.4(SP110):c.618G>A (p.Ala206=) SNV Uncertain significance 641393 rs372578277 GRCh37: 2:231077111-231077111
GRCh38: 2:230212396-230212396
32 SP110 NM_004509.4(SP110):c.1547G>A (p.Arg516Gln) SNV Uncertain significance 647053 rs763875680 GRCh37: 2:231042297-231042297
GRCh38: 2:230177581-230177581
33 SP110 NM_004509.4(SP110):c.1315A>G (p.Lys439Glu) SNV Uncertain significance 647440 rs145154247 GRCh37: 2:231048321-231048321
GRCh38: 2:230183605-230183605
34 SP110 , SP140 NM_004509.4(SP110):c.544C>T (p.Pro182Ser) SNV Uncertain significance 649099 rs199978387 GRCh37: 2:231077515-231077515
GRCh38: 2:230212800-230212800
35 SP110 , SP140 NM_004509.4(SP110):c.335G>A (p.Trp112Ter) SNV Uncertain significance 649389 rs757092766 GRCh37: 2:231077724-231077724
GRCh38: 2:230213009-230213009
36 SP110 NM_004509.4(SP110):c.2014A>G (p.Lys672Glu) SNV Uncertain significance 652037 rs370130521 GRCh37: 2:231033896-231033896
GRCh38: 2:230169180-230169180
37 SP110 NM_004509.4(SP110):c.1379A>C (p.His460Pro) SNV Uncertain significance 656368 rs772667418 GRCh37: 2:231042941-231042941
GRCh38: 2:230178225-230178225
38 SP110 , SP140 NM_004509.4(SP110):c.271C>A (p.Arg91Ser) SNV Uncertain significance 656709 rs201053153 GRCh37: 2:231079710-231079710
GRCh38: 2:230214995-230214995
39 SP110 , SP140 NM_004509.4(SP110):c.518C>T (p.Ser173Leu) SNV Uncertain significance 657671 rs41552315 GRCh37: 2:231077541-231077541
GRCh38: 2:230212826-230212826
40 SP110 NM_004509.4(SP110):c.1883C>T (p.Thr628Met) SNV Uncertain significance 660055 rs372023963 GRCh37: 2:231035410-231035410
GRCh38: 2:230170694-230170694
41 SP110 NM_004509.4(SP110):c.1037C>T (p.Ser346Leu) SNV Uncertain significance 660168 rs1574675911 GRCh37: 2:231067306-231067306
GRCh38: 2:230202590-230202590
42 SP110 , SP140 NM_004509.4(SP110):c.842A>G (p.Lys281Arg) SNV Uncertain significance 660366 rs187168146 GRCh37: 2:231072762-231072762
GRCh38: 2:230208047-230208047
43 SP110 NM_004509.4(SP110):c.952G>C (p.Val318Leu) SNV Uncertain significance 661665 rs201742692 GRCh37: 2:231067391-231067391
GRCh38: 2:230202675-230202675
44 SP110 NM_004509.4(SP110):c.1427A>G (p.Tyr476Cys) SNV Uncertain significance 661673 rs148808440 GRCh37: 2:231042893-231042893
GRCh38: 2:230178177-230178177
45 SP110 NM_004509.4(SP110):c.1256G>A (p.Cys419Tyr) SNV Uncertain significance 661779 rs200721134 GRCh37: 2:231050733-231050733
GRCh38: 2:230186017-230186017
46 SP110 NM_004509.4(SP110):c.2020G>A (p.Val674Met) SNV Uncertain significance 662821 rs765155471 GRCh37: 2:231033890-231033890
GRCh38: 2:230169174-230169174
47 SP110 NM_004509.4(SP110):c.1301T>C (p.Ile434Thr) SNV Uncertain significance 664033 rs140716014 GRCh37: 2:231048335-231048335
GRCh38: 2:230183619-230183619
48 SP110 NM_004509.4(SP110):c.1173G>A (p.Val391=) SNV Uncertain significance 334906 rs886055764 GRCh37: 2:231050816-231050816
GRCh38: 2:230186100-230186100
49 SP110 , SP140 NM_004509.4(SP110):c.127A>G (p.Ile43Val) SNV Uncertain significance 334920 rs886055766 GRCh37: 2:231081516-231081516
GRCh38: 2:230216801-230216801
50 SP110 NM_004509.4(SP110):c.900G>A (p.Gly300=) SNV Uncertain significance 334908 rs886055765 GRCh37: 2:231067443-231067443
GRCh38: 2:230202727-230202727

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 regulation of transcription by RNA polymerase II GO:0006357 8.62 SP140 SP110

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 8.62 SP140 SP110

Sources for Hepatic Venoocclusive Disease with Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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