MCID: SPL018
MIFTS: 40

Splenomegaly malady

Rare diseases category

Summaries for Splenomegaly

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Wikipedia:63 Splenomegaly is an enlargement of the spleen. The spleen usually lies in the left upper quadrant (LUQ)... more...

MalaCards based summary: 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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Sources:
41NIH Rare Diseases, 43Novoseek, 25ICD10
See all sources

Related Diseases for Splenomegaly

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Diseases related to Splenomegaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 463)
idRelated DiseaseScoreTop Affiliating Genes
1hypersplenism31.1GBA, THPO
2myelofibrosis30.8THPO, MPL
3gaucher's disease30.8CHIT1, GBA
4wolman disease30.7LIPA
5polycythemia vera30.6THPO, MPL
6gaucher disease, type i30.5CHIT1, GBA
7polycythemia30.4MPL, THPO
8purpura30.4THPO
9essential thrombocythemia30.4MPL, THPO
10hypoalphalipoproteinemia30.3LCAT
11neutropenia30.3THPO, MPL
12pancytopenia30.2HP, MPL, THPO, GBA
13thrombocythemia 130.2THPO
14niemann-pick disease30.2LCAT, CHIT1
15refractory anemia30.1THPO, MPL
16hemolytic anemia30.1LCAT, HP
17leukemia30.1HP, MPL, THPO, GBA
18thrombocytosis30.1HP, MPL, THPO
19fabry disease30.1CHIT1, GBA
20hepatitis c30.0HP, THPO
21thrombocytopenia30.0GBA, THPO, MPL, CHIT1, HP
22myelodysplastic syndrome29.8MPL, THPO
23liver disease29.7THPO, HP, LCAT
24liver cirrhosis29.6THPO, MPL, HP, LCAT
25deficiency anemia28.6GBA, THPO, MPL, CHIT1, HP, LCAT
26chitotriosidase deficiency10.5CHIT1
27hepatitis10.4
28malaria10.4
29felty's syndrome10.4
30portal hypertension10.3
31myeloid splenomegaly10.3
32banti's syndrome10.3
33anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.2GBA, MPL
34plasmodium falciparum malaria10.2CHIT1, HP
35thrombocytopenia, congenital amegakaryocytic10.2THPO, MPL
36thrombocytopenia due to platelet alloimmunization10.2MPL, THPO
37mantle cell lymphoma10.2
38pancreatitis10.2
39chronic myeloproliferative disease10.2THPO, MPL
40thrombocytopenic purpura, autoimmune10.2MPL, THPO
41chronic congestive splenomegaly10.2
42visceral leishmaniasis10.2
43leishmaniasis10.2
44aplastic anemia10.1MPL, THPO
45hepatoblastoma10.1THPO, MPL
46gray platelet syndrome10.1
47prolidase deficiency10.1
48hepatitis e10.1
49schistosomiasis10.1
50bone marrow cancer10.1THPO, MPL

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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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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MalaCards organs/tissues related to Splenomegaly:

31
Spleen, Bone, Bone marrow, Liver, Myeloid, B cells, T cells, Colon, Skin, Testes, Endothelial, Lung, Lymph node, Small intestine, Kidney, Thyroid, Uterus, Prostate, Cervix, Monocytes, Tongue

Animal Models for Splenomegaly or affiliated genes

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MGI Mouse Phenotypes related to Splenomegaly:

35
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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Articles related to Splenomegaly:

(show top 50)    (show all 583)
idTitleAuthorsYear
1
Role of blood and bone marrow examination in the diagnosis of mature lymphoid neoplasms in patients presenting with isolated splenomegaly. (25760312)
2015
2
Bone marrow trephine track as incidental finding on CT scanning for anaemia and splenomegaly. (25643840)
2015
3
Assessment of immune cells and function of the residual spleen after subtotal splenectomy due to splenomegaly in cirrhotic patients. (25293512)
2014
4
Stunted growth, splenomegaly, and interstitial pneumopathy. (25173787)
2014
5
Is platelet transfusion necessary in cirrhotic patients with splenomegaly? (24102873)
2014
6
Bartonella henselae infection in a man with hypergammaglobulinaemia, splenomegaly and polyclonal plasmacytosis. (23118473)
2013
7
Isolated splenomegaly as the only presentation of systemic mastocytosis. (23604430)
2013
8
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
9
Splenomegaly unresponsive to standard and salvage chemotherapy in Langerhans cell histiocytosis: a case of extramedullary hematopoiesis. (21922646)
2012
10
Synchronous presentation of acute pancreatitis and splenomegaly with intussusceptions in Peutz-Jeghers syndrome. (22925293)
2012
11
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
12
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
13
Seventy-four-year-old woman with myelodysplastic syndrome and splenomegaly. (20615327)
2010
14
A febrile young infant with splenomegaly and ecchymoses. (20531132)
2010
15
Splenectomy in two children with autoimmune lymphoproliferative syndrome and massive splenomegaly. (19499578)
2009
16
Detection of splenomegaly on Meckel's diverticulum scan. (19352291)
2009
17
An unexpected cause of a febrile patient with huge splenomegaly. (18365137)
2008
18
Radiation therapy for palliation of Eisenmenger's syndrome-associated painful splenomegaly. (18301984)
2008
19
Progressive splenomegaly following splenic artery embolization. (18481504)
2008
20
Case records of the Massachusetts General Hospital. Case 39-2008. A 51-year-old woman with splenomegaly and anemia. (19092156)
2008
21
Splenomegaly and Sports. (22908407)
2008
22
Haematological parameters in sickle cell anaemia patients with and without splenomegaly. (16380738)
2005
23
Splenomegaly, anaemia and pleural effusion. (15632233)
2005
24
Determination of splenomegaly by CT: is there a place for a single measurement? (15855107)
2005
25
Conjugation of 3' hexameric deoxyriboguanosine run to phosphodiester CpG oligodeoxynucleotides can inhibit allergen-specific IgE synthesis with less risk of splenomegaly. (16337478)
2005
26
Elevated plasma levels of vascular endothelial growth factor is associated with marked splenomegaly in chronic myeloid leukemia. (16263579)
2005
27
Sarcoidosis manifesting as massive splenomegaly: a rare occurrence. (15367876)
2004
28
Hand-assisted laparoscopic splenectomy in the setting of splenomegaly. (15803233)
2004
29
Congenital absence of the portal vein with splenomegaly and hypersplenism in a young woman. (12743449)
2003
30
Combined needlescopic cholecystectomy and laparoscopic splenectomy for the treatment of thalassaemic splenomegaly and cholelithiasis. (14750388)
2003
31
Acute hypersplenism with splenomegaly after portal vein embolization. (12075192)
2002
32
Laparoscopic splenectomy for massive splenomegaly. (11918887)
2002
33
Hand-assisted laparoscopic splenectomy vs conventional laparoscopic splenectomy in cases of splenomegaly. (12470097)
2002
34
Littoral cell angioma as a rare cause of splenomegaly. (11233776)
2001
35
Splenomegaly, hypersplenism and coagulation abnormalities in liver disease. (11139352)
2000
36
Mantle cell lymphoma, in leukaemic phase with prominent splenomegaly. A report of eight cases with similar clinical presentation and aggressive outcome. (11193469)
2000
37
Laparoscopically assisted splenectomy following preoperative splenic artery embolization using contour emboli for myelofibrosis with massive splenomegaly. (10804000)
1999
38
Fever, thrombocytopenia and splenomegaly in a neonate. (9951993)
1999
39
Comparative study between different diagnostic techniques in huge splenomegaly cases in El-Minia Province. (17214200)
1995
40
Hairy cell leukemia without splenomegaly nor myelofibrosis in a patient with gastric adenocarcinoma: early phase of the disease or a variant? (7567177)
1995
41
Splenomegaly in Baringo District, Kenya, an area endemic for visceral leishmaniasis and malaria. (7483000)
1995
42
Persistence of portosystemic collaterals and splenomegaly on CT after orthotopic liver transplantation. (1632346)
1992
43
Rapid aggravation of splenomegaly by administration of erythropoietin in a case of myelodysplastic syndrome]. (1479699)
1992
44
Pharmacologic manipulation of graft versus host induced splenomegaly. (1529801)
1992
45
Role of splenectomy in chronic lymphocytic leukaemia with massive splenomegaly and cytopenia. (1472923)
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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Search GEO for disease gene expression data for Splenomegaly.

Pathways for genes affiliated with Splenomegaly

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Pathways related to Splenomegaly according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5LIPA, GBA
2
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway58
9.4MPL, THPO
3
Show member pathways
9.4MPL, THPO

Compounds for genes affiliated with Splenomegaly

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Sources:
43Novoseek, 12DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR
See all sources

Compounds related to Splenomegaly according to GeneCards Suite gene sharing:

(show top 50)    (show all 71)
idCompoundScoreTop Affiliating Genes
1miglustat43 1211.1CHIT1, GBA
2megapoietin439.9MPL, THPO
3Cholesteryl acetate249.6LCAT, LIPA
4anagrelide43 1210.6MPL, 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 glycol439.4THPO, MPL, HP
33CE(19:0)249.4LIPA, LCAT
34gp 130439.3THPO, 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 ester439.1LIPA, HP, LCAT
39mannose439.0GBA, LIPA, CHIT1
40iron43 2410.0HP, CHIT1, MPL, THPO
41polysaccharide438.9HP, CHIT1, THPO, GBA
42aspirin43 49 28 2411.9HP, MPL, THPO, GBA
43adenylate438.8GBA, THPO, LIPA, HP
44phospholipid438.6GBA, LIPA, HP, LCAT
45lipid438.2LCAT, HP, CHIT1, LIPA, GBA
46cholesterol43 28 24 1211.2LCAT, HP, LIPA, GBA
47alanine438.1LCAT, HP, MPL, THPO
48steroid438.1HP, LIPA, THPO, GBA
49serine437.8GBA, MPL, LIPA, HP, LCAT
50cysteine437.6LCAT, GBA, THPO, MPL, LIPA, HP

GO Terms for genes affiliated with Splenomegaly

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Cellular components related to Splenomegaly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.1LCAT, HP, CHIT1, THPO

Biological processes related to Splenomegaly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell proliferationGO:00082838.9LIPA, MPL, THPO

Products for genes affiliated with Splenomegaly

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  • Antibodies
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  • Lysates
  • Antibodies
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  • Kits and Assays

Sources for Splenomegaly

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet