MCID: SPL018
MIFTS: 46

Splenomegaly malady

Rare diseases category
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Summaries for Splenomegaly

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65Wikipedia, 33MalaCards
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Wikipedia:65 Splenomegaly is an enlargement of the spleen. The spleen usually lies in the left upper quadrant (LUQ)... 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 Lysosome and Jak/Stat Pathway. The compounds miglustat and megapoietin have been mentioned in the context of this disorder. Affiliated tissues include spleen, bone and bone marrow, and related mouse phenotypes are cardiovascular system and liver/biliary system.

Aliases & Classifications for Splenomegaly

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43NIH Rare Diseases, 45Novoseek, 25ICD10
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Related Diseases for Splenomegaly

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17GeneCards, 18GeneDecks
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Diseases related to Splenomegaly via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 356)
idRelated DiseaseScoreTop Affiliating Genes
1hypersplenism30.9GBA, THPO
2myelofibrosis30.7THPO, MPL
3pancytopenia30.5HP, MPL, THPO, GBA
4thrombocytopenia30.4GBA, THPO, MPL, CHIT1, HP
5leukemia30.4HP, MPL, THPO, GBA
6gaucher's disease30.4CHIT1, GBA
7polycythemia vera30.4THPO, MPL
8polycythemia30.3MPL, THPO
9neutropenia30.2THPO, MPL
10hemolytic anemia30.1LCAT, HP
11niemann-pick disease30.1LCAT, CHIT1
12thrombocythemia 130.0THPO
13purpura30.0THPO
14thrombocytosis30.0HP, MPL, THPO
15liver cirrhosis30.0THPO, MPL, HP, LCAT
16myelodysplastic syndromes30.0MPL, THPO
17refractory anemia30.0THPO, MPL
18myeloproliferative disorder29.9THPO, MPL
19hepatitis c29.9HP, THPO
20cholesteryl ester storage disease29.8LIPA
21fabry disease29.8CHIT1, GBA
22deficiency anemia29.4GBA, THPO, MPL, CHIT1, HP, LCAT
23hepatitis10.4
24sarcoidosis10.4
25malaria10.4
26hypertension10.3
27felty's syndrome10.3
28portal hypertension10.3
29banti's syndrome10.3
30myeloid splenomegaly10.3
31visceral leishmaniasis10.2
32mantle cell lymphoma10.2
33leishmaniasis10.2
34pancreatitis10.2
35chronic congestive splenomegaly10.1
36infectious mononucleosis10.1
37chitotriosidase deficiency10.1CHIT1
38hepatitis e10.1
39arthritis10.1
40hairy cell leukemia10.1
41histiocytosis10.1
42hodgkin's lymphoma10.1
43melanoma10.1
44schistosomiasis10.1
45tuberculosis10.1
46sickle cell disease10.1
47optic nerve edema-splenomegaly syndrome10.1
48gaucher disease type 110.1CHIT1, GBA
49hypoalphalipoproteinemia10.1LCAT
50plasmodium falciparum malaria10.0CHIT1, HP

Graphical network of the top 20 diseases related to Splenomegaly:



Diseases related to splenomegaly

Symptoms for Splenomegaly

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Drugs & Therapeutics for Splenomegaly

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Splenomegaly

Search NIH Clinical Center for Splenomegaly

Genetic Tests for Splenomegaly

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Anatomical Context for Splenomegaly

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33MalaCards
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MalaCards organs/tissues related to Splenomegaly:

33
Spleen, Bone, Bone marrow, Liver, Myeloid, B cells, T cells, Colon, Skin, Testes, Lung, Endothelial, Monocytes, Prostate, Uterus, Thyroid, Kidney, Small intestine, Lymph node, Eye, Tongue

Animal Models for Splenomegaly or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Splenomegaly:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.2LCAT, HP, LIPA, GBA
2MP:00053708.1GBA, LIPA, HP, LCAT
3MP:00053877.6GBA, THPO, MPL, LIPA, CHIT1, HP
4MP:00053767.4GBA, MPL, LIPA, HP, LCAT
5MP:00053977.2LCAT, HP, LIPA, MPL, THPO, GBA

Publications for Splenomegaly

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52PubMed
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Articles related to Splenomegaly:

(show top 50)    (show all 558)
idTitleAuthorsYear
1
Is platelet transfusion necessary in cirrhotic patients with splenomegaly? (24102873)
2014
2
Bartonella henselae infection in a man with hypergammaglobulinaemia, splenomegaly and polyclonal plasmacytosis. (23118473)
2013
3
Isolated splenomegaly as the only presentation of systemic mastocytosis. (23604430)
2013
4
A case of liver fibrosis with splenomegaly after oxaliplatin-based adjuvant chemotherapy for colon cancer. (24339718)
2013
5
Gigantic splenomegaly in a 27-year-old male of South-East Asian descent with concurrent diagnosis of myeloproliferative neoplasm and hemoglobin H disease. (23672282)
2013
6
Splenomegaly unresponsive to standard and salvage chemotherapy in Langerhans cell histiocytosis: a case of extramedullary hematopoiesis. (21922646)
2012
7
Synchronous presentation of acute pancreatitis and splenomegaly with intussusceptions in Peutz-Jeghers syndrome. (22925293)
2012
8
Prophylaxis against hepatitis B virus recurrence after liver transplantation for hepatitis B virus-related end-stage liver diseases with severe hypersplenism and splenomegaly: role of splenectomy. (22483806)
2012
9
Small cell variant of mantle cell lymphoma is an indolent lymphoma characterized by bone marrow involvement, splenomegaly, and a low Ki-67 index. (21609366)
2011
10
Seventy-four-year-old woman with myelodysplastic syndrome and splenomegaly. (20615327)
2010
11
A febrile young infant with splenomegaly and ecchymoses. (20531132)
2010
12
Splenectomy in two children with autoimmune lymphoproliferative syndrome and massive splenomegaly. (19499578)
2009
13
Detection of splenomegaly on Meckel's diverticulum scan. (19352291)
2009
14
An unexpected cause of a febrile patient with huge splenomegaly. (18365137)
2008
15
Radiation therapy for palliation of Eisenmenger's syndrome-associated painful splenomegaly. (18301984)
2008
16
Progressive splenomegaly following splenic artery embolization. (18481504)
2008
17
Case records of the Massachusetts General Hospital. Case 39-2008. A 51-year-old woman with splenomegaly and anemia. (19092156)
2008
18
Splenomegaly and Sports. (22908407)
2008
19
Haematological parameters in sickle cell anaemia patients with and without splenomegaly. (16380738)
2005
20
Splenomegaly, anaemia and pleural effusion. (15632233)
2005
21
Determination of splenomegaly by CT: is there a place for a single measurement? (15855107)
2005
22
Conjugation of 3' hexameric deoxyriboguanosine run to phosphodiester CpG oligodeoxynucleotides can inhibit allergen-specific IgE synthesis with less risk of splenomegaly. (16337478)
2005
23
Elevated plasma levels of vascular endothelial growth factor is associated with marked splenomegaly in chronic myeloid leukemia. (16263579)
2005
24
Sarcoidosis manifesting as massive splenomegaly: a rare occurrence. (15367876)
2004
25
Hand-assisted laparoscopic splenectomy in the setting of splenomegaly. (15803233)
2004
26
Congenital absence of the portal vein with splenomegaly and hypersplenism in a young woman. (12743449)
2003
27
Combined needlescopic cholecystectomy and laparoscopic splenectomy for the treatment of thalassaemic splenomegaly and cholelithiasis. (14750388)
2003
28
Acute hypersplenism with splenomegaly after portal vein embolization. (12075192)
2002
29
Laparoscopic splenectomy for massive splenomegaly. (11918887)
2002
30
Hand-assisted laparoscopic splenectomy vs conventional laparoscopic splenectomy in cases of splenomegaly. (12470097)
2002
31
Littoral cell angioma as a rare cause of splenomegaly. (11233776)
2001
32
Splenomegaly, hypersplenism and coagulation abnormalities in liver disease. (11139352)
2000
33
Mantle cell lymphoma, in leukaemic phase with prominent splenomegaly. A report of eight cases with similar clinical presentation and aggressive outcome. (11193469)
2000
34
Laparoscopically assisted splenectomy following preoperative splenic artery embolization using contour emboli for myelofibrosis with massive splenomegaly. (10804000)
1999
35
Fever, thrombocytopenia and splenomegaly in a neonate. (9951993)
1999
36
Splenomegaly, eosinophilia, and pruritus: Hodgkin's disease, or...? (9269801)
1997
37
Comparative study between different diagnostic techniques in huge splenomegaly cases in El-Minia Province. (17214200)
1995
38
Hairy cell leukemia without splenomegaly nor myelofibrosis in a patient with gastric adenocarcinoma: early phase of the disease or a variant? (7567177)
1995
39
Splenomegaly in Baringo District, Kenya, an area endemic for visceral leishmaniasis and malaria. (7483000)
1995
40
Splenomegaly and percussion: is the background noise due to tongue in cheek? (8046799)
1994
41
Persistence of portosystemic collaterals and splenomegaly on CT after orthotopic liver transplantation. (1632346)
1992
42
Rapid aggravation of splenomegaly by administration of erythropoietin in a case of myelodysplastic syndrome]. (1479699)
1992
43
Pharmacologic manipulation of graft versus host induced splenomegaly. (1529801)
1992
44
Role of splenectomy in chronic lymphocytic leukaemia with massive splenomegaly and cytopenia. (1472923)
1992
45
Vesicular rash, radicular pain, and splenomegaly in a patient with Lyme borreliosis. (1319756)
1992
46
Systemic cystic angiomatosis in a woman with hematuria and splenomegaly. (3607642)
1987
47
Control of hypersplenism and painful splenomegaly in myeloid metaplasia by irradiation. (413815)
1977
48
Pycnodysostosis with splenomegaly and anemia. (5286691)
1971
49
SPIKING ACID HYPERPHOSPHATASIA, SPLENOMEGALY, AND LEUKEMOID REACTION DURING A HEMOLYTIC SICKLE CELL CRISIS. (14167678)
1964
50
The hemorrhagic tendency in congestive splenomegaly (Banti's syndrome); its mechanism and management. (18899129)
1948

Variations for Splenomegaly

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Expression for genes affiliated with Splenomegaly

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Splenomegaly

Search GEO for disease gene expression data for Splenomegaly.

Pathways for genes affiliated with Splenomegaly

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50PathCards, 30KEGG, 5Cell Signaling Technology, 60Thomson Reuters, 55Reactome
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Pathways related to Splenomegaly according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5LIPA, GBA
2
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway60
9.4MPL, THPO
3
Show member pathways
9.4MPL, THPO

Compounds for genes affiliated with Splenomegaly

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45Novoseek, 11DrugBank, 24HMDB, 51PharmGKB, 29IUPHAR
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Compounds related to Splenomegaly according to GeneCards/GeneDecks:

(show top 50)    (show all 71)
idCompoundScoreTop Affiliating Genes
1miglustat45 1111.1CHIT1, GBA
2megapoietin459.9MPL, THPO
3Cholesteryl acetate249.6LCAT, LIPA
4anagrelide45 1110.6MPL, THPO
5CE(20:5(5Z,8Z,11Z,14Z,17Z)249.6LCAT, LIPA
6CE(22:0)249.5LCAT, LIPA
7CE(22:1(13Z))249.5LCAT, LIPA
8CE(20:4(8Z,11Z,14Z,17Z))249.5LIPA, LCAT
9CE(20:4(5Z,8Z,11Z,14Z)249.5LIPA, LCAT
10CE(20:3(8Z,11Z,14Z))249.5LIPA, LCAT
11CE(20:3(5Z,8Z,11Z))249.5LIPA, LCAT
12CE(22:2(13Z,16Z))249.5LCAT, LIPA
13CE(5:0)249.5LIPA, LCAT
14CE(24:1(15Z))249.5LIPA, LCAT
15CE(24:0)249.5LIPA, LCAT
16CE(22:6(4Z,7Z,10Z,13Z,16Z,19Z))249.5LIPA, LCAT
17CE(22:5(7Z,10Z,13Z,16Z,19Z))249.5LIPA, LCAT
18CE(22:5(4Z,7Z,10Z,13Z,16Z))249.5LIPA, LCAT
19CE(22:4(7Z,10Z,13Z,16Z)249.5LIPA, LCAT
20CE(20:2(6Z,9Z))249.5LIPA, LCAT
21CE(10:0)249.5LCAT, LIPA
22CE(18:0)249.5LIPA, LCAT
23CE(16:1(9Z))249.5LIPA, LCAT
24CE(16:0)249.5LIPA, LCAT
25CE(14:1(9Z))249.4LIPA, LCAT
26CE(14:0)249.4LIPA, LCAT
27CE(12:0)249.4LIPA, LCAT
28CE(18:1(11Z))249.4LCAT, LIPA
29CE(18:1(9Z))249.4LCAT, LIPA
30CE(20:1(11Z))249.4LIPA, LCAT
31CE(20:0)249.4LIPA, LCAT
32polyethylene glycol459.4THPO, MPL, HP
33CE(19:0)249.4LIPA, LCAT
34gp 130459.3THPO, MPL, HP
35CE(18:3(9Z,12Z,15Z))249.3LIPA, LCAT
36CE(18:2(9Z,12Z))249.3LCAT, LIPA
37CE(18:3(6Z,9Z,12Z))249.3LCAT, LIPA
38cholesterol ester459.1LIPA, HP, LCAT
39mannose459.0GBA, LIPA, CHIT1
40iron45 2410.0HP, CHIT1, MPL, THPO
41polysaccharide458.9HP, CHIT1, THPO, GBA
42aspirin45 51 29 2411.9HP, MPL, THPO, GBA
43adenylate458.8GBA, THPO, LIPA, HP
44phospholipid458.6GBA, LIPA, HP, LCAT
45lipid458.2LCAT, HP, CHIT1, LIPA, GBA
46cholesterol45 29 24 1111.2LCAT, HP, LIPA, GBA
47alanine458.1LCAT, HP, MPL, THPO
48steroid458.1HP, LIPA, THPO, GBA
49serine457.8GBA, MPL, LIPA, HP, LCAT
50cysteine457.6LCAT, GBA, THPO, MPL, LIPA, HP

GO Terms for genes affiliated with Splenomegaly

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16Gene Ontology
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Cellular components related to Splenomegaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.1LCAT, HP, CHIT1, THPO

Biological processes related to Splenomegaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell proliferationGO:0082838.9LIPA, MPL, THPO

Products for genes affiliated with Splenomegaly

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  • Antibodies
  • Proteins
  • Lysates
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Sources for Splenomegaly

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet