Summaries for Splenomegaly

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44Wikipedia, 22MalaCards
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Wikipedia: Splenomegaly is an enlargement of the spleen. The spleen usually lies in the left upper quadrant (LUQ)...44 more...

MalaCards: Splenomegaly is related to hypersplenism and myelofibrosis. An important gene associated with Splenomegaly is CHIT1 (chitinase 1 (chitotriosidase)), and among its related pathways are Graft-versus-host disease and RIG-I-like receptor signaling pathway. The compounds anagrelide and hyaluronic acid have been mentioned in the context of this disorder. Affiliated tissues include lung, spleen and bone marrow, and related mouse phenotypes are endocrine/exocrine gland and respiratory system.

Aliases & Descriptions for Splenomegaly

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30NIH Rare Diseases, 32Novoseek
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splenomegaly 30 32

Related Diseases for Splenomegaly

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13GeneCards, 14GeneDecks
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Diseases related to splenomegaly by text searches and GeneDecks gene sharing:

(show top 50)    (show all 597)
idRelated DiseaseScoreTop Affiliating Genes
1hypersplenism30.7THPO, CSF3, EPO, GBA
2myelofibrosis29.5JAK2, THPO, EPO
3gaucher's disease29.2CHIT1, SMPD1, HBB, TKT, GBA
4hereditary spherocytosis29.0HBA2, HBB
5essential thrombocythemia28.2MPL, JAK2, THPO
6sea-blue histiocytosis28.1LCAT, SMPD1
7typhoid fever28.1GPT, HLA-DQB1, HLA-DRB1, SLC17A5
8prolidase deficiency27.9SLC17A5, PEPD
9pancytopenia27.3MPL, ITK, IL2RA, HP, THPO, CSF3
10infectious mononucleosis27.1IL10, GPT, IFNA1, HP, HLA-DRB1, SLC17A5
11polycythemia vera26.9MPL, JAK2, ITGB2, IFNA1, IFNA2, TET2
12lymphoproliferative syndrome26.7ATM, JAK2, CD5, ITGAX, IL2RA, FASLG
13autoimmune hemolytic anemia26.6IL10, IL2RA, IFNA1, IFNA2, HP
14lymphoblastic lymphoma26.6ATM, FASLG, FAS, ENO2, CSF3, RUNX1
15myelodysplastic syndrome26.4MPL, JAK2, FASLG, FAS, THPO, CSF3
16histiocytosis25.9LCAT, JAK2, ITGAX, IL10, GPT, IFNA1
17chronic myeloid leukemia25.8MPL, JAK2, ITGB2, IFNA1, IFNA2, TKT
18thrombocytosis25.6VEGFA, MPL, JAK2, IFNA1, IFNA2, HP
19common variable immunodeficiency25.5IL10, IL2RA, FAS, HLA-DQB1, HLA-DRB1
20thrombocytopenia24.5CHIT1, MPL, CD5, ITGB2, ITK, IL10
21polycythemia24.5VEGFA, MPL, JAK2, ITGB2, FASLG, FAS
22sarcoidosis22.7VEGFA, CHIT1, GRP, IL10, IL2RA, FASLG
23nephropathy20.7VEGFA, LCAT, JAK2, ITGB2, IL10, IL2RA
24cholesterol20.5VEGFA, LIPA, LCAT, JAK2, ITGAX, ITGB2
25myeloid leukemia19.7VEGFA, CHIT1, ATM, MPL, JAK2, ITGAX
26fibrosis19.0VEGFA, LCAT, ATM, MPL, JAK2, GRP
27tuberculosis18.0VEGFA, BPGM, LIPA, CHIT1, JAK2, CD5
28leukemia15.1VEGFA, CHIT1, LCAT, ATM, MPL, JAK2
29gaucher disease type 313.8CHIT1, GBA
30gaucher disease type 113.8CHIT1, GBA
31hemorrhagic thrombocythemia13.7MPL, JAK2, THPO
32severe congenital neutropenia13.7JAK2, THPO, CSF3
33hypoalphalipoproteinemia13.7LCAT, ABCA1, GBA
34niemann–pick disease13.7CHIT1, LCAT, SMPD1
35granulomatous hepatitis13.7IFNA1, IFNA2
36congenital amegakaryocytic thrombocytopenia13.7MPL, THPO
37neonatal anemia13.7HBA2, EPO
38obstructive jaundice13.6LCAT, GPT, SLC17A5
39acquired polycythemia13.6JAK2, EPO
40sm-ahnmd13.6JAK2, IL2RA, IFNA2
41hepatitis13.6GPT, IFNA1, SLC17A5
42acute liver failure13.6GPT, THPO, SLC17A5
43lysosomal storage disease13.6LIPA, CHIT1, SMPD1, GBA
44hepatitis d13.6GPT, IFNA1, IFNA2
45pyomyositis13.6GPT, CSF3
46creatine phosphokinase13.6GPT, SLPI, SLC17A5
47hemoglobin constant spring13.6HBA2, HBB
48pyridoxine deficiency13.5GPT, SLC17A5
49lymphomatoid granulomatosis13.5IFNA1, IFNA2
50portal hypertension13.5GPT, THPO, SLC17A5

Graphical network of the top 20 diseases related to splenomegaly:



Graphical network of diseases related to splenomegaly

Clinical Features for Splenomegaly

Drugs & Therapeutics for Splenomegaly

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4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Genetic Tests for Splenomegaly

Anatomical Context for Splenomegaly

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22MalaCards
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MalaCards organs/tissues related to splenomegaly:

22
Lung, Spleen, Bone marrow, Myeloid, Endothelial

Phenotypes for genes affiliated with Splenomegaly

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25MGI
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Publications for genes affiliated with Splenomegaly

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35PubMed
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Articles related to splenomegaly:

(show all 21)
idTitleAuthorsYearAffiliating Genes
1Hereditary thrombocytosis caused by MPLSer505Asn is a ssociated with a high thrombotic risk, splenomegaly and progression to bone mar row fibrosis. (19713221)Teofili L.... Larocca L.M.2010MPL
2How I treat symptomatic splenomegaly in patients with myelofibrosis. (19332765)Mesa R.A.2009JAK2
3A case of tuberculosis with multiple lung nodules, a bdominal lymphadenopathy, and splenomegaly (19928550)Horie M.... Nakajima Y.2009KRT19, GRP
4Splenomegaly with sea-blue histiocytosis, dyslipidemi a, and nephropathy in a patient with lecithin-cholesterol acyltransferase defic iency: a clinicopathologic correlation. (19592052)Naghashpour M.... Cualing H.2009LCAT
5Voluminous nodular splenomegaly in Gaucher disease: a case report (19375198)RozAc B.... Hutin P.2009GBA
6Thrombocytopenia in association with splenomegaly during granulocyte-colony-stimulating factor treatment in mice is not caused by hypersplenism and is resolved spontaneously. (17207228)Takamatsu Y.... Tamura K.2007CSF3
7JAK2 V617F mutational status predicts progression to large splenomegaly and leukemic transformation in primary myelofibrosis. (17712047)Barosi G.... Barbui T.2007JAK2
8HLA-DQB1 0602 allele is associated with splenomegaly in Japanese sarcoidosis. (17875181)Sato H.... Izumi T.2007HLA-DQB1, HLA-DRB1
9AML1 deletion in adult mice causes splenomegaly and lymphomas. (16247465)Putz G.... Buchholz F.2006RUNX1
10Elevated plasma levels of vascular endothelial growth factor is associated with marked splenomegaly in chronic myeloid leukemia. (16263579)Liu P.... Peng Z.2005VEGFA
11NSE-positive lymphoblastic lymphoma in a boy with cu taneous involvement, giant splenomegaly, and hyper-gamma globulinemia (15678916)Takahashi K.... Nakazawa S.2004ENO2
12Urothelial cancer producing granulocyte colony-stimulating factor: possible induction of splenomegaly. (14972497)Kitayama S.... Kihara K.2004CSF3
13A 32-year old male patient with pathological humeral fracture, splenomegaly and thrombocytopenia (15151139)DA1rr E.M.... Parhofer K.G.2004GBA
14Increased serum levels of vascular endothelial growth factor correlate with splenomegaly in polycythemia vera. (12363469)Murphy P.... Hassan H.T.2002EPO
15Splenomegaly induced by recombinant human granulocyte-colony stimulating factor in rats. (11554613)Nakayama T.... Sakamoto S.2001TYMS, TKT
16Murine gammaherpesvirus-68-induced interleukin-10 increases viral burden, but limits virus-induced splenomegaly and leukocytosis. (11576228)Peacock J.W.... Bost K.L.2001IL10
17Improvement of splenomegaly and pancytopenia by enzym e replacement therapy against type 1 Gaucher disease: a report of sibling cases . (11345203)Tsuboi K.... Ueda R.2001GBA
18Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]. (11095479)Nguyen T.T.... O'Brien T.2000APOE, LCAT
19A female patient with splenomegaly, interstitial pneumopathy and giant foam cells in bone marrow (10515006)Imhof A.... Streuli R.A.1999SMPD1
20Rapid aggravation of splenomegaly by administration of erythropoietin in a case of myelodysplastic syndrome (1479699)Sato T.... Chiba S.1992EPO
21Usefulness of the immunologic phenotype in the diagnosis of chronic lymphoproliferative syndromes with splenomegaly as the dominant clinical manifestation (2291146)Silva Rodrigues A.... Lopez Borrasca A.1990CD5

Expression for genes affiliated with Splenomegaly

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Splenomegaly

Pathways for genes affiliated with Splenomegaly

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20KEGG, 10EMD Millipore, 41Thomson Reuters, 37R&D Systems, 36QIAGEN, 3Cell Signaling Technology
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Pathways related to splenomegaly according to GeneDecks:

(show all 35)
idPathwayScoreTop Affiliating Genes
1Graft-versus-host disease2010.4FASLG
2RIG-I-like receptor signaling pathway2010.3CASP8
3Development Thrombopoetin signaling via JAK-STAT pathway1010.2MPL, JAK2
4Development_Thrombopoetin signaling via JAK-STAT pathway4110.2THPO, MPL, JAK2
5IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types3710.1FASLG, IL2RA
6Molecular Mechanisms of Cancer369.9ATM, ITGB2, ITGAX, CASP8
7Apoptosis and survival Apoptotic TNF-family pathways109.9FAS, CASP8, FASLG, TRAF2
8Apoptosis and survival_Apoptotic TNF-family pathways419.9FASLG, TRAF2, CASP8, FAS
9Natural killer cell mediated cytotoxicity209.8FASLG, IFNA2, IFNA1, FAS, ITGB2
10Apoptosis Signaling Pathways379.8FASLG, CASP8, FAS, TRAF2
11Measles209.8IFNA2, FAS, FASLG, JAK2, IL2RA, IFNA1
12IL-2 Signaling and its Primary Biological Effects in Different Immune Cell Types379.7FAS, IL10, FASLG, IL2RA
13Apoptosis209.7ATM, FASLG, FAS, CASP8, TRAF2
14Malaria209.6IL10, HBA2, CSF3, HBB, ITGB2
15Hematopoietic cell lineage209.6HLA-DRB1, IL2RA, CD5, CSF3, EPO, THPO
16Lymphocyte Signaling39.5ITK, IL2RA, FASLG, GATA1, RUNX1
17Immune response IL-22 signaling pathway109.5HLA-DRB1, IL2RA, JAK2, HLA-DQB1
18Tec Kinases Signaling369.4THPO, IL10, IL2RA, ITK, JAK2, ITGB2
19African trypanosomiasis209.4FASLG, HBA2, FAS, IL10, HBB
20Jak-STAT signaling pathway209.4CSF3, EPO, IFNA1, IL2RA, IL10, JAK2
21JAK-STAT Pathway369.4THPO, EPO, IFNA1, IL2RA, JAK2, MPL
22Immune response_IL-22 signaling pathway419.4HLA-DQB1, HLA-DRB1, JAK2, IL2RA
23Type I diabetes mellitus209.3HLA-DRB1, HLA-DQB1, FAS, FASLG
24Viral myocarditis209.2HLA-DRB1, ITGB2, HLA-DQB1, CASP8
25THC Differentiation Pathway369.1IL10, IL2RA, HLA-DQB1, HLA-DRB1
26Staphylococcus aureus infection209.1IL10, ITGB2, HLA-DRB1, HLA-DQB1
27ICos-ICosL Pathway in T-Helper Cell369.1HLA-DQB1, IL2RA, HLA-DRB1, ITK
28Leishmaniasis209.1IL10, JAK2, ITGB2, HLA-DQB1, HLA-DRB1
29Influenza A209.0FASLG, JAK2, HLA-DRB1, IFNA2, IFNA1, HLA-DQB1
30Toxoplasmosis208.9CASP8, JAK2, HLA-DQB1, IL10, HLA-DRB1
31Allograft rejection208.9HLA-DRB1, HLA-DQB1, IL10, FAS, FASLG
32CDC42 Pathway368.8HLA-DRB1, ITK, HLA-DQB1, ITGB2, ITGAX
33Autoimmune thyroid disease208.6FASLG, FAS, IFNA1, IFNA2, HLA-DQB1, HLA-DRB1
34Tuberculosis208.5ITGAX, HLA-DRB1, HLA-DQB1, CASP8, IFNA2, IL10
35Cytokine-cytokine receptor interaction208.2EPO, CSF3, IFNA2, VEGFA, MPL, FASLG

Compounds for genes affiliated with Splenomegaly

Sources:
32Novoseek , 9DrugBank, 18HMDB, 42Tocris Bioscience, 34PharmGKB
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Compounds related to splenomegaly according to GeneDecks:

(show top 50)    (show all 249)
idCompoundScoreTop Affiliating Genes
1anagrelide32 9 9 12.1THPO, EPO, MPL, JAK2, IFNA1, IFNA2
2hyaluronic acid32 18 10.5ITGB2, FASLG, GPT, KRT19, THPO, SLPI
3topotecan32 9 9 11.5ATM, TYMS, TKT, CASP8
4dmso32 9.4GATA1, RUNX1, THPO, SLC17A5, HBB, SMPD1
5rapamycin32 42 10.4VEGFA, JAK2, ABCA1, TKT, THPO
6lamivudine32 9 9 11.3SLC17A5, IL2RA, SLPI, IFNA2, IFNA1, GPT
7ribavirin32 34 9 9 12.2SLC17A5, EPO, IL10, CSF3, HP, IFNA2
8ascorbic acid32 18 10.0IL2RA, JAK2, FASLG, EPO, SLC17A5, TKT
9epinephrine32 9 18 9 12.0SLC17A5, GRP, FASLG, FAS, CASP8, HP
10estrogen32 9.0KRT19, HP, APOE, GRP, LCAT, HBB
11glutamate32 8.9TYMS, PEPD, ABCA1, GRP, JAK2, LCAT
12mitomycin c32 8.9ATM, FASLG, FAS, CASP8, TYMS, TKT
13aspirin32 34 18 10.9IL2RA, JAK2, MPL, GRP, APOE, FAS
14doxorubicin32 34 9 9 11.8SMPD1, PEPD, GATA1, CASP8, IFNA2, FAS
15prednisolone32 9 9 10.6CSF3, ITGB2, RUNX1, IL10, IL2RA, GPT
16zidovudine32 9 9 10.6TKT, TYMS, IFNA2, IFNA1, GPT, IL10
17oxygen32 18 9.6SLC17A5, SLPI, THPO, HBB, SMPD1, CASP8
18cytarabine32 34 9 9 11.5GATA1, ATM, FASLG, FAS, IFNA1, IFNA2
19ifn-alpha32 8.5IFNA2, IFNA1, GPT, FAS, FASLG, IL2RA
20cysteine32 8.4MPL, CASP8, LIPA, LCAT, FASLG, SMPD1
21etoposide32 42 9 9 11.4IFNA2, CASP8, TKT, THPO, RUNX1, ENO2
22carboplatin32 34 9 9 11.4HP, CSF3, THPO, TYMS, EPO, VEGFA
23aspartate32 8.4FASLG, HP, HLA-DQB1, SMPD1, KRT19, HBB
24leucovorin32 34 9 9 11.3CSF3, FASLG, THPO, TKT, TYMS, IFNA2
25hydroxyurea32 9 9 10.3GATA1, EPO, CSF3, THPO, ATM, JAK2
26iron32 18 9.1GPT, IFNA2, HP, KRT19, HBA2, HBB
27cholesterol32 9 18 9 11.0GPT, ENO2, FASLG, LCAT, APOE, HP
28adenylate32 7.8HP, HBB, TYMS, GBA, TKT, THPO
295fluorouracil32 7.7MPL, CSF3, THPO, TKT, TYMS, CASP8
30methotrexate32 34 42 9 9 11.7GBA, HLA-DRB1, IL10, IL2RA, FASLG, ENO2
31butyrate32 7.7FASLG, ITGB2, ITGAX, JAK2, LCAT, CASP8
32cyclosporin a32 42 8.6JAK2, ITGB2, ITK, IL10, IL2RA, APOE
33simvastatin32 34 42 9 18 9 12.6ITGB2, LIPA, LCAT, VEGFA, ABCA1, SLC17A5
34nitric oxide32 9 18 9 10.5HBB, SLPI, FAS, GBA, SLC17A5, ATM
35creatinine32 7.5SLPI, SLC17A5, PEPD, EPO, TKT, THPO
36testosterone32 9 18 9 10.5GRP, LCAT, LIPA, IL2RA, APOE, FASLG
37lactate32 7.5ENO2, GPT, HP, KRT19, HBB, TYMS
38atorvastatin32 34 9 18 9 11.5IL10, ABCA1, SLC17A5, APOE, GPT, FASLG
39imatinib32 34 9 9 10.5VEGFA, EPO, RUNX1, CSF3, THPO, TKT
40tamoxifen32 34 9 9 10.3TKT, IFNA1, TYMS, IFNA2, VEGFA, FAS
41vegf32 7.3MPL, SLPI, RUNX1, EPO, GATA1, CSF3
42retinoic acid32 42 18 9.2THPO, ITGAX, ITGB2, SLPI, RUNX1, CSF3
43dexamethasone32 42 34 9 9 11.0VEGFA, FAS, IL2RA, IL10, GRP, JAK2
44oligonucleotide32 6.8ITGB2, FAS, HLA-DQB1, HLA-DRB1, LIPA, JAK2
45thymidine32 18 7.8IL2RA, FASLG, FAS, ENO2, IFNA1, IFNA2
46alanine32 6.8CASP8, HP, HLA-DRB1, TRAF2, HBA2, HBB
47cisplatin32 34 9 9 9.2FAS, SMPD1, KRT19, TYMS, TKT, CSF3
48serine32 5.5GATA1, ITGB2, GRP, FAS, IFNA1, ITK
49cycloheximide32 5.5FAS, IFNA1, CASP8, TRAF2, TKT, CSF3
50tyrosine32 3.7ABCA1, HLA-DQB1, HP, CASP8, IFNA2, KRT19

GO Terms for genes affiliated with Splenomegaly

Sources:
12Gene Ontology
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Cellular components related to splenomegaly according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin-hemoglobin complexGO:0318389.9HP, HBB, HBA2
2membrane raftGO:0451219.4FAS, JAK2, CASP8, TRAF2, ABCA1
3external side of plasma membraneGO:0098979.2HLA-DRB1, FAS, FASLG, ITGAX, CD5
4extracellular spaceGO:0056156.9VEGFA, EPO, CSF3, THPO, SMPD1, HP

Biological processes related to splenomegaly according to GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell deathGO:01094210.1HBB, HBA2, HP
2inflammatory cell apoptotic processGO:00692510.0FASLG, FAS
3termination of signal transductionGO:0230219.9GBA, SMPD1
4myeloid cell differentiationGO:0300999.8THPO, RUNX1, TET2
5activation of pro-apoptotic gene productsGO:0086339.8FAS, TRAF2, CASP8, FASLG
6reverse cholesterol transportGO:0436919.8APOE, LCAT, ABCA1
7activation of cysteine-type endopeptidase activity involved in apoptotic processGO:0069199.7JAK2, TRAF2, CASP8, FASLG, FAS
8response to lipopolysaccharideGO:0324969.6CASP8, THPO, EPO, FAS, FASLG, JAK2
9induction of apoptosis by extracellular signalsGO:0086249.6TRAF2, CD5, FASLG, FAS, CASP8
10positive regulation of apoptotic processGO:0430659.4FAS, FASLG, JAK2, ATM, SMPD1
11blood coagulationGO:0075968.7GATA1, HBB, IFNA2, ITGB2, ITGAX, JAK2
12small molecule metabolic processGO:0442817.8TKT, SMPD1, GPT, ENO2, APOE, LCAT

Molecular functions related to splenomegaly according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin bindingGO:03172010.0HBB, HBA2
2apolipoprotein A-I bindingGO:03418610.0LCAT, ABCA1
3tumor necrosis factor receptor bindingGO:0051649.8TRAF2, CASP8, FASLG
4cytokine activityGO:0051258.4VEGFA, IL10, FASLG, IFNA2, THPO, CSF3

Sources for Splenomegaly

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS