MCID: SPL018
MIFTS: 48

Splenomegaly

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Splenomegaly

Summaries for Splenomegaly

MalaCards based summary : Splenomegaly is related to polycythemia vera and myelofibrosis. An important gene associated with Splenomegaly is SBDS (SBDS Ribosome Maturation Factor), and among its related pathways/superpathways are Pathways in cancer and Necroptosis. The drugs leucovorin and Sulfadoxine have been mentioned in the context of this disorder. Affiliated tissues include spleen, liver and t cells, and related phenotypes are immune system and liver/biliary system

Wikipedia : 75 Splenomegaly is an enlargement of the spleen. The spleen usually lies in the left upper quadrant (LUQ)... more...

Related Diseases for Splenomegaly

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

(show top 50) (show all 621)
# Related Disease Score Top Affiliating Genes
1 polycythemia vera 32.2 MPL JAK2 EPO
2 myelofibrosis 31.2 MPL JAK2 IFNA2 EPO
3 essential thrombocythemia 30.9 MPL JAK2 IFNA2 EPO
4 leukemia, chronic myeloid 30.5 SETBP1 MPL JAK2 IFNA2 EPO
5 polycythemia 30.4 MPL JAK2 EPO
6 thrombocytosis 30.2 MPL JAK2 EPO
7 lymphoma, non-hodgkin, familial 29.9 JAK2 GBA FAS
8 refractory anemia 29.9 MPL JAK2 EPO
9 splenic disease 29.8 GBA EPO
10 blood coagulation disease 29.8 MPL JAK2
11 acquired polycythemia 29.8 JAK2 EPO
12 thrombocytopenic purpura, autoimmune 29.7 MPL IFNA2
13 gaucher disease, type i 29.6 GBA CHIT1
14 aplastic anemia 29.1 SBDS MPL FAS EPO
15 myelodysplastic syndrome 28.6 SETBP1 SBDS MPL JAK2 FAS EPO
16 splenomegaly, cytopenia, and vision loss 12.6
17 chronic congestive splenomegaly 12.5
18 myeloid splenomegaly 12.4
19 splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t helper cells 12.3
20 felty syndrome 12.1
21 sea-blue histiocyte disease 12.0
22 gaucher's disease 12.0
23 banti's syndrome 12.0
24 zimmermann-laband syndrome 1 11.8
25 hypersplenism 11.7
26 hereditary spherocytosis 11.6
27 gray platelet syndrome 11.6
28 autoimmune lymphoproliferative syndrome 11.5
29 prolidase deficiency 11.4
30 lymphoproliferative syndrome, x-linked, 2 11.4
31 hairy cell leukemia 11.4
32 littoral cell angioma of the spleen 11.3
33 porphyria 11.3
34 anemia, autoimmune hemolytic 11.3
35 follicular lymphoma 11.3
36 common variable immunodeficiency 11.3
37 wandering spleen 11.3
38 niemann-pick disease, type c1 11.3
39 persistent polyclonal b-cell lymphocytosis 11.3
40 tangier disease 11.3
41 lysosomal acid lipase deficiency 11.3
42 lymphoproliferative syndrome, x-linked, 1 11.3
43 budd-chiari syndrome 11.3
44 juvenile myelomonocytic leukemia 11.3
45 lymphoplasmacytic lymphoma 11.3
46 typhoid fever 11.3
47 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.2
48 caspase 8 deficiency 11.2
49 tang hsi ryu syndrome 11.2
50 overhydrated hereditary stomatocytosis 11.1

Graphical network of the top 20 diseases related to Splenomegaly:



Diseases related to Splenomegaly

Symptoms & Phenotypes for Splenomegaly

MGI Mouse Phenotypes related to Splenomegaly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.76 APOE CHIT1 EPO FAS GBA JAK2
2 liver/biliary system MP:0005370 9.43 APOE EPO FAS GBA JAK2 SBDS
3 mortality/aging MP:0010768 9.28 APOE EPO FAS GBA HBA2 JAK2

Drugs & Therapeutics for Splenomegaly

Drugs for Splenomegaly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 215)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 4 58-05-9 143 6006
2
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
3
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
4
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
5
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
6
Lactitol Investigational Phase 4 585-86-4, 585-88-6 493591
7 Antimalarials Phase 4
8 Antiparasitic Agents Phase 4
9 Antiprotozoal Agents Phase 4
10 Vitamin B9 Phase 4
11 Vitamin B Complex Phase 4
12 Folate Phase 4
13 Folic Acid Antagonists Phase 4
14 Renal Agents Phase 4
15 Anti-Infective Agents, Urinary Phase 4
16
tannic acid Approved Phase 3 1401-55-4
17
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
18
Eliglustat Approved Phase 3 491833-29-5 23652731
19
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
20
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
21
Fludarabine Approved Phase 3 21679-14-1, 75607-67-9 30751
22
Vidarabine Approved, Investigational Phase 3 24356-66-9 21704 32326
23
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
24
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
25
Mercaptopurine Approved Phase 3 50-44-2 667490
26
Danazol Approved Phase 3 17230-88-5 28417
27
Hydroxyurea Approved Phase 3 127-07-1 3657
28
Melphalan Approved Phase 3 148-82-3 460612 4053
29
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
30
Emodepside Investigational, Vet_approved Phase 3 155030-63-0
31 Cyclooxygenase Inhibitors Phase 3
32 Fibrinolytic Agents Phase 3
33 Platelet Aggregation Inhibitors Phase 3
34 Antipyretics Phase 3
35 Fanasil, pyrimethamine drug combination Phase 3
36 Pharmaceutical Solutions Phase 2, Phase 3
37 Nucleic Acid Synthesis Inhibitors Phase 3
38 Immunosuppressive Agents Phase 3
39 Interferon alpha-2 Phase 3
40 Interferon-alpha Phase 3
41 Antiviral Agents Phase 3
42 Antimetabolites Phase 3
43 Antimetabolites, Antineoplastic Phase 3
44 Alkylating Agents Phase 3
45 Antineoplastic Agents, Alkylating Phase 3
46 Vidarabine Phosphate Phase 3
47 Janus Kinase Inhibitors Phase 3
48 interferons Phase 3
49
alemtuzumab Approved, Investigational Phase 2 216503-57-0
50
Bortezomib Approved, Investigational Phase 2 179324-69-7 93860 387447

Interventional clinical trials:

(show top 50) (show all 122)
# Name Status NCT ID Phase Drugs
1 A UK Open-label, Multicentre, Exploratory Phase II Study of INC424 for Patients With Primary Myelofibrosis (PMF) or Post Polycythaemia Myelofibrosis (PPV MF) or Post Essential Thrombocythaemia Myelofibrosis (PET-MF) Completed NCT01558739 Phase 4 INC424
2 Comparison of Two Strategies for the Delivery of Intermittent Preventive Treatment in Children (IPTc) in an Area of Seasonal Malaria Transmission Completed NCT00376155 Phase 4 sulfadoxine /pyrimethamine plus amodiaquine
3 An Open Label, Multi-center, Phase IV Roll-over Protocol for Patients Who Have Completed a Prior Global Novartis or Incyte Sponsored Ruxolitinib (INC424) Study and Are Judged by the Investigator to Benefit From Continued Treatment Recruiting NCT02386800 Phase 4 Ruxolitinib
4 A Multicenter, Safety and Efficacy Study of Taliglucerase Alfa in Subjects With Type 3 Gaucher Disease Not yet recruiting NCT04002830 Phase 4 Elelyso
5 An Open-Label Extension Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
6 A Multicenter Open-Label Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients With Type 1 Gaucher Disease Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
7 A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled, 3-Arm Study of SAR302503 in Patients With Intermediate-2 or High-Risk Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis With Splenomegaly Completed NCT01437787 Phase 3 SAR302503;Placebo
8 A Multicenter, Randomized, Double-Blind, Parallel Group, Two-Dose Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients With Type 1 Gaucher Disease Completed NCT00430625 Phase 3
9 A Multicenter, Randomized, Double-Blind, Parallel-Group Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy Compared With Imiglucerase in Patients With Type I Gaucher Disease Completed NCT00553631 Phase 3
10 A Multicenter, Open-label Extension Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
11 A Multicenter, Open-Label Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
12 A Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients With Gaucher Disease Type 1 Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE) Completed NCT00943111 Phase 3 Eliglustat tartrate;Imiglucerase
13 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study Confirming the Efficacy and Safety of Genz-112638 in Patients With Gaucher Disease Type 1 (ENGAGE) Completed NCT00891202 Phase 3 Eliglustat tartrate;Placebo
14 Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea Therapy in the Treatment of High Risk Polycythemia Vera (PV) and High Risk Essential Thrombocythemia (ET) Completed NCT01259856 Phase 3 PEGASYS;Hydroxyurea;Aspirin
15 A Trial of Intermittent Preventive Treatment and Home Based Management of Malaria in a Rural Area of The Gambia Completed NCT00944840 Phase 3 SP plus amodiaquine;SP placebo plus amodiaquine placebo
16 A Phase 2/3, Multicenter, Randomized, Double-blinded, Placebo-controlled, Repeat-dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics, and Pharmacokinetics of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
17 A Randomized Phase III Study of Ibrutinib (PCI-32765)-Based Therapy vs Standard Fludarabine, Cyclophosphamide, and Rituximab (FCR) Chemoimmunotherapy in Untreated Younger Patients With Chronic Lymphocytic Leukemia (CLL) Active, not recruiting NCT02048813 Phase 3 Cyclophosphamide;Fludarabine Phosphate;Ibrutinib
18 Danish Study of Low-dose Interferon Alpha Versus Hydroxyurea in the Treatment of Philadelphia Chromosome Negative (Ph-)Chronic Myeloid Neoplasms. Active, not recruiting NCT01387763 Phase 3 PegIntron;Pegasys;PegIntron;Pegasys;Hydrea
19 A MULTICENTER, OPEN-LABEL, RANDOMIZED STUDY TO EVALUATE THE EFFICACY AND SAFETY OF FEDRATINIB COMPARED TO BEST AVAILABLE THERAPY IN SUBJECTS WITH DIPSS-INTERMEDIATE OR HIGH-RISK PRIMARY MYELOFIBROSIS, POST-POLYCYTHEMIA VERA MYELOFIBROSIS, OR POST-ESSENTIAL THROMBOCYTHEMIA MYELOFIBROSIS AND PREVIOUSLY TREATED WITH RUXOLITINIB Not yet recruiting NCT03952039 Phase 3 FEDRATINIB;Best Available Therapy (BAT)
20 A Randomized Controlled Phase 3 Study of Oral Pacritinib Versus Best Available Therapy in Patients With Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis Terminated NCT01773187 Phase 3 Pacritinib;Best Available Therapy
21 A Randomized Controlled Phase 3 Study of Oral Pacritinib Versus Best Available Therapy in Patients With Thrombocytopenia and Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis Terminated NCT02055781 Phase 3 Pacritinib;Best Available Therapy
22 Prednisone Plus Chloroquine Versus Chloroquine for the Treatment of Hyper-reactive Malarial Splenomegaly in Papua New Guinea: a Randomized Open-label Trial Withdrawn NCT01785979 Phase 3 prednisone induction - chloroquine;Chloroquine
23 A Clinical Research Consortium (CRC) Phase II Study of Subcutaneous Campath-1H in Patients With B-Cell Chronic Lymphocytic Leukemia and Residual Disease After Chemotherapy Unknown status NCT00800943 Phase 2
24 An Open Label Assessment of Safety and Efficacy of Ruxolitinib (INCB018424) in Subjects With Primary Myelofibrosis (PMF), Post Essential Thrombocythemia-myelofibrosis (PPV-MF) and Post Polycythemia Vera-myelofibrosis (PET-MF) Who Have Platelet Counts of 50 x 10^9/L to 100 x 10^9/L Completed NCT01348490 Phase 2 Ruxolitinib (INCB018424)
25 A Phase 2 Open-Label, Dose-Ranging Study of the Efficacy and Safety of Orally Administered SAR302503 in Japanese Patients With Intermediate-2 or High Risk Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, Post-Essential Thrombocythemia Myelofibrosis With Splenomegaly Completed NCT01692366 Phase 2 SAR302503
26 A Phase II Study of Velcade (Bortezomib - PS341) in the Treatment of Patients Over 18 Years With Ph+ Leukemia Completed NCT00511069 Phase 2 Bortezomib
27 Multi-Center Phase II Study With Pomalidomide in Patients With Myeloproliferative Neoplasms in Fibrotic Stage Completed NCT00949364 Phase 2 Pomalidomide
28 An Open Label Multicenter Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 in Adult Subjects With Liver Dysfunction Due to Lysosomal Acid Lipase Deficiency Who Previously Received Treatment in Study LAL-CL01 Completed NCT01488097 Phase 2 sebelipase alfa
29 A Phase II Trial of R115777 in Myelofibrosis With Myeloid Metaplasia (MMM) Completed NCT00047190 Phase 2 tipifarnib
30 Therapy of Early Chronic Phase Chronic Myelogenous Leukemia (CML) With Alpha Interferon (IFN-A), Low-Dose Cytosine Arabinoside (ARA-C), and Homoharringtonine (HHT) Completed NCT00003239 Phase 2 Cytarabine;Omacetaxine Mepesuccinate
31 An Open-Label Extension of Study TKT025 Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A Enzyme Replacement Therapy Completed NCT00391625 Phase 1, Phase 2 GA-GCB
32 A Phase 2 Randomized, Open-Label, Dose-Ranging Study of the Efficacy and Safety of Orally Administered SAR302503 in Patients With Intermediate-2 or High Risk Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, Post-Essential Thrombocythemia Myelofibrosis With Splenomegaly Completed NCT01420770 Phase 2 SAR302503
33 A Phase Ib/II, Open-label, Multi-center, Dose-finding Study to Assess the Safety and Efficacy of the Oral Combination of LDE225 and INC424 (Ruxolitinib) in Patients With Myelofibrosis Completed NCT01787552 Phase 1, Phase 2 LDE225;INC424
34 An Open-Label Multicenter Study to Evaluate the Safety, Tolerability and Pharmacokinetics of SBC-102 in Adult Participants With Liver Dysfunction Due to Lysosomal Acid Lipase Deficiency Completed NCT01307098 Phase 1, Phase 2 Sebelipase alfa 0.35 mg/kg;Sebelipase alfa 1 mg/kg;Sebelipase alfa 3 mg/kg
35 Phase II Study of the Combination of Low-Dose Thalidomide, Prednisone, and Oral Cyclophosphamide ("TPC") in the Therapy of Myelofibrosis With Myeloid Metaplasia (MMM) Completed NCT00445900 Phase 2 cyclophosphamide;prednisone;thalidomide
36 A Phase II Study of Lenalidomide (REVLIMID®) in Combination With Rituximab for Patients With CD5+/CD20+ Hematologic Malignancies Who Relapse or Progress After Rituximab Completed NCT00609869 Phase 2 Lenalidomide;Rituximab
37 Pilot (Phase I-II) Study of Valproic Acid (Depakote) for the Treatment of the Autoimmune Lymphoproliferative Syndrome (ALPS) Completed NCT00605657 Phase 1, Phase 2 Valproic Acid
38 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
39 A Phase II Clinical Trial of Anti-Tac(Fv)-PE38 (LMB-2) Immunotoxin for Treatment of CD25 Positive Chronic Lymphocytic Leukemia Completed NCT00077922 Phase 2 LMB-2
40 A Phase I/II, Open-Label, Dose-Escalation Study Evaluating the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Orally-Administered CYT387 in Primary Myelofibrosis or Post-Polycythemia Vera or Post-Essential Thrombocythemia Myelofibrosis. Completed NCT00935987 Phase 1, Phase 2 CYT387
41 Prospective, Phase II Randomized Study to Compare Busulfan-fludarabine Reduced-intensity Conditioning (RIC) With Thiotepa-fludarabine RIC Regimen Prior to Allogeneic Transplantation of Hematopoietic Cells for the Treatment of Myelofibrosis Completed NCT01814475 Phase 2 A: Fludarabine + Busulphan;B: Fludarabine + Thiotepa
42 Effects of Sympathicomimetic Agonists on the Disease Course and Mutant Allele Burden in Patients With JAK2-mutated Myeloproliferative Neoplasms. A Multicenter Phase II Trial. Completed NCT02311569 Phase 2 Mirabegron
43 Single Arm Salvage Therapy With Pegylated Interferon Alfa-2a for Patients With High Risk Polycythemia Vera or High Risk Essential Thrombocythemia Who Are Either Hydroxyurea Resistant or Intolerant or Have Had Abdominal Vein Thrombosis Completed NCT01259817 Phase 2 PEGASYS;Aspirin
44 Ruxolitinib Versus Best Available Therapy in Patients With High-risk Polycythemia Vera or High-risk Essential Thrombocythemia - The Ruxo-BEAT Trial Recruiting NCT02577926 Phase 2 Ruxolitinib;BAT
45 A Phase 2 Study of the MEK Inhibitor Trametinib (NSC# 763093) in Children With Relapsed or Refractory Juvenile Myelomonocytic Leukemia Recruiting NCT03190915 Phase 2 Trametinib
46 Efficacy and Safety of Rapamycin Therapy for Patients With Activated Phosphoinositide 3-Kinase δ Syndrome Recruiting NCT03383380 Phase 1, Phase 2 Rapamycin
47 A Phase II Single-Arm Study of the Efficacy and Safety of Oral Rigosertib in Patients With Myelofibrosis (MF) and Anemia Recruiting NCT02730884 Phase 2 Rigosertib
48 A Phase 2, Double-Blind, Placebo Controlled Multicenter Study to Determine the Efficacy and Safety of Luspatercept (ACE-536) in Adults With Non-Transfusion Dependent Beta (B)-Thalassemia Recruiting NCT03342404 Phase 2 Luspatercept
49 A Phase I/II Study of Syk Inhibitor Entospletinib (GS-9973) in Combination With Obinutuzumab in Patients With Relapsed/Refractory Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma (CLL/SLL) and B-Cell Malignancies Recruiting NCT03010358 Phase 1, Phase 2 Entospletinib
50 A Study of Gemcitabine, L- Asparaginase, Ifosfamide, Dexamethasone and Etoposide Chemotherapy Followed by ASCT for Newly Diagnosed Stage IV, Relapsed or Refractory Extranodal Natural Killer/T-cell Lymphoma, Nasal Type Recruiting NCT03154918 Phase 2 GLIDE

Search NIH Clinical Center for Splenomegaly

Genetic Tests for Splenomegaly

Genetic tests related to Splenomegaly:

# Genetic test Affiliating Genes
1 Splenomegaly 29

Anatomical Context for Splenomegaly

MalaCards organs/tissues related to Splenomegaly:

41
Spleen, Liver, T Cells, Myeloid, B Cells, Bone, Bone Marrow

Publications for Splenomegaly

Articles related to Splenomegaly:

(show top 50) (show all 13354)
# Title Authors PMID Year
1
Prolidase deficiency: it looks like systemic lupus erythematosus but it is not. 9 38
19937054 2010
2
Conditional expression of heterozygous or homozygous Jak2V617F from its endogenous promoter induces a polycythemia vera-like disease. 9 38
20197548 2010
3
Mobilization of hematopoietic stem cells in a thalassemic mouse model: implications for human gene therapy of thalassemia. 9 38
19795976 2010
4
Transferrin therapy ameliorates disease in beta-thalassemic mice. 9 38
20098432 2010
5
Potential conditions causing impairment of selective hepatobiliary enhancement of gadobenate dimeglumine-enhanced delayed magnetic resonance imaging. 9 38
20118733 2010
6
Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation. 9 38
19592052 2009
7
[Voluminous nodular splenomegaly in Gaucher disease: a case report]. 9 38
19375198 2009
8
Emerging drugs for the therapy of primary and post essential thrombocythemia, post polycythemia vera myelofibrosis. 9 38
19552608 2009
9
Secondary hemophagocytic lymphohistiocytosis and severe sepsis/ systemic inflammatory response syndrome/multiorgan dysfunction syndrome/macrophage activation syndrome share common intermediate phenotypes on a spectrum of inflammation. 9 38
19325510 2009
10
How I treat symptomatic splenomegaly in patients with myelofibrosis. 9 38
19332765 2009
11
Valproic acid (VPA), a histone deacetylase (HDAC) inhibitor, diminishes lymphoproliferation in the Fas -deficient MRL/lpr(-/-) murine model of autoimmune lymphoproliferative syndrome (ALPS). 9 38
19217201 2009
12
Novel strategies for patients with chronic myeloproliferative disorders. 9 38
19468275 2009
13
Interferon-alpha therapy in bcr-abl-negative myeloproliferative neoplasms. 9 38
18843285 2008
14
A case of adult onset Still's disease showing marked accumulation in the liver and spleen, on positron emission tomography-CT images. 9 38
18443796 2008
15
Hepatic involvement and portal hypertension predict mortality in chronic granulomatous disease. 9 38
18439425 2008
16
Prevalence of the JAK2-V617F mutation in Taiwanese patients with chronic myeloproliferative disorders. 9 38
18336541 2008
17
Differences in bone responses to recombinant human granulocyte colony-stimulating factor between mice and rats. 9 38
18544917 2008
18
Transgenic expression of JAK2V617F causes myeloproliferative disorders in mice. 9 38
18334677 2008
19
Clinical and laboratory evaluation of 101 patients with intrahepatic neonatal cholestasis. 9 38
18622471 2008
20
Neutrophil-selective CD18 silencing using RNA interference in vivo. 9 38
18216298 2008
21
Acute thrombocytopenia after liver transplant: role of platelet activation, thrombopoietin deficiency and response to high dose intravenous IgG treatment. 9 38
17716776 2007
22
Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. 9 38
17999750 2007
23
Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency. 9 38
17570078 2007
24
PET positive generalized lymphadenopathy and splenomegaly following interferon-alfa-2b adjuvant therapy for melanoma. 9 38
17885361 2007
25
[Elevated Hemoglobin--polyglobulia or polycythemia?]. 9 38
17668775 2007
26
Thrombocytopenia in association with splenomegaly during granulocyte-colony-stimulating factor treatment in mice is not caused by hypersplenism and is resolved spontaneously. 9 38
17207228 2007
27
Schistosomiasis mansoni: novel chemotherapy using a cysteine protease inhibitor. 9 38
17214506 2007
28
Recombinant human erythropoietin for the treatment of anaemia in patients with chronic idiopathic myelofibrosis. 9 38
17159338 2007
29
Ulcus cruris associated with prolidase deficiency. 9 38
17459310 2006
30
Molecular pathogenesis and therapy of polycythemia induced in mice by JAK2 V617F. 9 38
17183644 2006
31
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C. 9 38
16972172 2006
32
Feasibility and safety of G-CSF administration to induce bone marrow-derived cells mobilization in patients with end stage liver disease. 9 38
16635534 2006
33
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. 9 38
16834459 2006
34
Haptoglobin levels are associated with haptoglobin genotype and alpha+ -Thalassemia in a malaria-endemic area. 9 38
16760505 2006
35
Clinical presentation of chronic hepatitis C in patients with end-stage renal disease and on hemodialysis versus those with normal renal function. 9 38
16128946 2005
36
Relevance of the criteria commonly used to diagnose myeloproliferative disorder in patients with splanchnic vein thrombosis. 9 38
15877740 2005
37
Polyclonal proliferation of plasma cells associated with marked hypergammaglobulinemia in an elderly patient. 9 38
15717691 2005
38
Hemophagocytosis exacerbated by G-CSF/GM-CSF treatment in a patient with myelodysplasia. 9 38
15551287 2004
39
TNF receptor-associated factor (TRAF) domain and Bcl-2 cooperate to induce small B cell lymphoma/chronic lymphocytic leukemia in transgenic mice. 9 38
15545599 2004
40
Long-term survival benefit and improved complete cytogenetic and molecular response rates with imatinib mesylate in Philadelphia chromosome-positive chronic-phase chronic myeloid leukemia after failure of interferon-alpha. 9 38
15198956 2004
41
Screening for functional sequence variations and mutations in ABCA1. 9 38
15262183 2004
42
Polycythemia vera and idiopathic erythrocytosis: comparison of clinical and laboratory parameters. 9 38
15270182 2004
43
High levels of osteopontin associated with polymorphisms in its gene are a risk factor for development of autoimmunity/lymphoproliferation. 9 38
14592838 2004
44
Urothelial cancer producing granulocyte colony-stimulating factor: possible induction of splenomegaly. 9 38
14972497 2004
45
Chronic myelogenous leukemia with e13a3 (b2a3) type of BCR-ABL transcript having a DNA breakpoint between ABL exons a2 and a3. 9 38
14635208 2003
46
Myelofibrosis with myeloid metaplasia. 9 38
14560783 2003
47
Refractory chronic GVHD emerging after splenectomy in a marrow transplant recipient with accelerated phase CML. 9 38
12858207 2003
48
Modern treatment strategies in polycythemia vera. 9 38
12682879 2003
49
Permanent and panerythroid correction of murine beta thalassemia by multiple lentiviral integration in hematopoietic stem cells. 9 38
12391330 2002
50
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1. 9 38
12373578 2002

Variations for Splenomegaly

ClinVar genetic disease variations for Splenomegaly:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SBDS NM_016038.4(SBDS): c.258+2T> C single nucleotide variant Pathogenic rs113993993 7:66459197-66459197 7:66994210-66994210
2 HBA1 ; HBA2 ; LOC106804612 NM_000517.6(HBA2): c.410T> C (p.Leu137Pro) single nucleotide variant Pathogenic rs41469945 16:223580-223580 16:173581-173581
3 ADA2 NM_001282225.2(ADA2): c.144dup (p.Arg49fs) duplication Pathogenic/Likely pathogenic 22:17690424-17690424 22:17209534-17209534
4 SBDS NM_016038.4(SBDS): c.184A> T (p.Lys62Ter) single nucleotide variant Pathogenic/Likely pathogenic rs120074160 7:66459273-66459273 7:66994286-66994286
5 FAS NM_000043.6(FAS): c.536T> G (p.Leu179Arg) single nucleotide variant Likely pathogenic rs1554851718 10:90770540-90770540 10:89010783-89010783
6 SLC37A4 NM_001164277.1(SLC37A4): c.81T> A (p.Asn27Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193302889 11:118899999-118899999 11:119029289-119029289
7 GATA2 NM_032638.4(GATA2): c.971A> G (p.Lys324Arg) single nucleotide variant Uncertain significance rs1480450110 3:128202749-128202749 3:128483906-128483906

Expression for Splenomegaly

Search GEO for disease gene expression data for Splenomegaly.

Pathways for Splenomegaly

GO Terms for Splenomegaly

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 IFNA2 HBA2 FAS EPO CHIT1 APOE
2 extracellular space GO:0005615 9.17 IFNA2 HBA2 GBA EPO CHIT1 APOE
3 endocytic vesicle lumen GO:0071682 8.96 HBA2 APOE

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

# Name GO ID Score Top Affiliating Genes
1 extrinsic apoptotic signaling pathway GO:0097191 9.43 JAK2 FAS
2 negative regulation of MAP kinase activity GO:0043407 9.4 GBA APOE
3 response to testosterone GO:0033574 9.37 GBA EPO
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.33 JAK2 IFNA2 EPO
5 response to dexamethasone GO:0071548 9.32 GBA EPO
6 regulation of protein metabolic process GO:0051246 9.26 GBA APOE
7 negative regulation of cellular protein metabolic process GO:0032269 8.96 GBA APOE
8 negative regulation of neuron death GO:1901215 8.8 GBA EPO APOE

Sources for Splenomegaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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