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MCID: SPL018
MIFTS: 48

Splenomegaly

Categories: Blood diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Splenomegaly

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MalaCards integrated aliases for Splenomegaly:

Name: Splenomegaly 52 29 54 6

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

ICD10 32 R16.1
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Summaries for Splenomegaly

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MalaCards based summary : Splenomegaly is related to gaucher's disease and erythrocytosis, familial, 8. An important gene associated with Splenomegaly is JAK2 (Janus Kinase 2), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Pathways in cancer. 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 hematopoietic system and immune system

Wikipedia : 74 Splenomegaly is an enlargement of the spleen. The spleen usually lies in the left upper quadrant (LUQ)... more...

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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 642)
# Related Disease Score Top Affiliating Genes
1 gaucher's disease 32.5 GBA CHIT1 APOE
2 erythrocytosis, familial, 8 31.9 JAK2 HBA2
3 polycythemia vera 31.3 MPL JAK2 IFNA2 IFNA1 EPO
4 myelofibrosis 31.1 SETBP1 MPL JAK2 IFNA2 IFNA1 EPO
5 essential thrombocythemia 31.0 MPL JAK2 IFNA2 IFNA1 EPO
6 gaucher disease, type iii 31.0 GBA CHIT1
7 leukemia, chronic myeloid 30.9 SETBP1 MPL JAK2 IFNA2 IFNA1 EPO
8 pancytopenia 30.6 MPL GBA EPO
9 splenic sequestration 30.5 MPL EPO
10 polycythemia 30.2 MPL JAK2 HBA2 EPO
11 refractory anemia 30.2 MPL EPO
12 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 30.1 IFNA2 HBA2 GBA EPO
13 acute leukemia 29.9 SETBP1 MPL JAK2 EPO
14 hypereosinophilic syndrome 29.9 JAK2 IFNA2 IFNA1
15 thrombocytosis 29.8 MPL JAK2 IFNA1 EPO
16 chronic myelomonocytic leukemia 29.8 SETBP1 MPL JAK2
17 thalassemia 29.8 HBA2 EPO CHIT1
18 systemic mastocytosis 29.7 JAK2 IFNA2 IFNA1
19 mastocytosis 29.7 JAK2 IFNA2 IFNA1
20 acquired polycythemia 29.6 MPL JAK2 EPO
21 neutropenia 29.5 SBDS MPL IFNA2 IFNA1 EPO
22 viral hepatitis 29.5 IFNA2 IFNA1 FAS
23 lymphomatoid granulomatosis 29.4 IFNA2 IFNA1
24 alpha-thalassemia 29.4 HBA2 EPO ARHGAP26
25 portal vein thrombosis 29.3 MPL JAK2 IFNA2 IFNA1
26 blood coagulation disease 29.3 MPL JAK2 IFNA1 EPO
27 beta-thalassemia 29.2 JAK2 HBA2 EPO CHIT1
28 herpes zoster 29.1 IFNA2 IFNA1 APOE
29 myeloproliferative neoplasm 29.1 MPL JAK2 IFNA2 IFNA1 EPO
30 blood platelet disease 29.0 MPL JAK2 IFNA1 EPO
31 myelodysplastic syndrome 29.0 SETBP1 SBDS MPL JAK2 FAS EPO
32 acquired immunodeficiency syndrome 29.0 IFNA2 IFNA1 EPO APOE
33 aplastic anemia 28.9 SBDS MPL IFNA1 FAS EPO
34 leukemia, acute myeloid 28.7 SETBP1 MPL JAK2 IFNA1 FAS EPO
35 malaria 28.6 IFNA1 HBA2 FAS EPO CHIT1 APOE
36 thrombocytopenia 28.3 SBDS MPL JAK2 IFNA2 IFNA1 GBA
37 splenomegaly, cytopenia, and vision loss 12.6
38 chronic congestive splenomegaly 12.5
39 myeloid splenomegaly 12.4
40 splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t helper cells 12.3
41 felty syndrome 12.1
42 sea-blue histiocyte disease 12.1
43 banti's syndrome 12.0
44 zimmermann-laband syndrome 1 11.8
45 hypersplenism 11.7
46 hereditary spherocytosis 11.6
47 autoimmune lymphoproliferative syndrome 11.5
48 gray platelet syndrome 11.5
49 prolidase deficiency 11.5
50 follicular lymphoma 11.5

Graphical network of the top 20 diseases related to Splenomegaly:



Diseases related to Splenomegaly
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Symptoms & Phenotypes for Splenomegaly

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MGI Mouse Phenotypes related to Splenomegaly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.91 APOE EPO FAS GBA HBA2 JAK2
2 immune system MP:0005387 9.81 APOE CHIT1 EPO FAS GBA JAK2
3 integument MP:0010771 9.5 APOE EPO FAS GBA HBA2 JAK2
4 liver/biliary system MP:0005370 9.1 APOE EPO FAS GBA JAK2 SBDS
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Drugs & Therapeutics for Splenomegaly

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

(show top 50) (show all 202)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 4 58-05-9 6006 143
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 Anti-Infective Agents Phase 4
7 Antiparasitic Agents Phase 4
8 Antiprotozoal Agents Phase 4
9 Antimalarials Phase 4
10 Vitamin B Complex Phase 4
11 Folate Phase 4
12 Vitamin B9 Phase 4
13 Folic Acid Antagonists Phase 4
14
tannic acid Approved Phase 3 1401-55-4
15
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
16
Eliglustat Approved Phase 3 491833-29-5 23652731
17
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
18
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
19
Deferoxamine Approved, Investigational Phase 2, Phase 3 70-51-9 2973
20
Iron Approved, Experimental Phase 2, Phase 3 15438-31-0, 7439-89-6 27284 23925
21
Deferasirox Approved, Investigational Phase 2, Phase 3 201530-41-8 5493381
22
Sodium citrate Approved, Investigational Phase 3 68-04-2
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
Hydroxyurea Approved Phase 3 127-07-1 3657
26
Mercaptopurine Approved Phase 3 50-44-2 667490
27
Danazol Approved Phase 3 17230-88-5 28417
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
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
31 Fibrinolytic Agents Phase 3
32 Antipyretics Phase 3
33 Platelet Aggregation Inhibitors Phase 3
34 Cyclooxygenase Inhibitors Phase 3
35 Fanasil, pyrimethamine drug combination Phase 3
36 Antioxidants Phase 2, Phase 3
37 Protein Kinase Inhibitors Phase 3
38 Chelating Agents Phase 2, Phase 3
39 Omega 3 Fatty Acid Phase 2, Phase 3
40 Nigella Phase 2, Phase 3
41 Iron Chelating Agents Phase 2, Phase 3
42 Estrogen Antagonists Phase 3
43 Estrogen Receptor Antagonists Phase 3
44 Hepcidins Phase 3
45 N-(cyanomethyl)-4-(2-((4-(4-morpholinyl)phenyl)amino)-4-pyrimidinyl)benzamide Phase 3
46 Estrogens Phase 3
47 Citrate Phase 3
48 Pharmaceutical Solutions Phase 2, Phase 3
49 Immunologic Factors Phase 3
50 Interferon-alpha Phase 3

Interventional clinical trials:

(show top 50) (show all 130)
# 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 A Multicenter, Safety and Efficacy Study of Taliglucerase Alfa in Subjects With Type 3 Gaucher Disease Not yet recruiting NCT04002830 Phase 4 Elelyso
4 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
5 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
6 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
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 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
9 A Multicenter, Open-label Extension Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
10 A Multicenter, Open-Label Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
11 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
12 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
13 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
14 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
15 A Phase 3, Multicenter, Open-label, Randomized Study to Evaluate the Efficacy and Safety of Fedratinib Compared to Best Available Therapy (BAT) in Subjects With DIPSS (Dynamic International Prognostic Scoring System)-Intermediate or High-risk Primary Myelofibrosis (PMF), Post-polycythemia Vera Myelofibrosis (Post-PV MF), or Post-essential Thrombocythemia Myelofibrosis (Post-ET MF) and Previously Treated With Ruxolitinib Recruiting NCT03952039 Phase 3 FEDRATINIB;Best Available Therapy (BAT)
16 Impact of Combination Therapy Between Hydroxy Urea, Omega 3, Nigella Sativa and Honey on Antioxidant-oxidant Status and Reduction of Iron Overload in Pediatric Major Thalassemia Recruiting NCT04292314 Phase 2, Phase 3 Omega 3;Nigella Sativa Oil;Hydroxyurea;Honey;Deferoxamine
17 A Randomized, Double-Blind, Phase 3 Study of Momelotinib vs Danazol in Symptomatic, Anemic Subjects With Previously JAKi Treated Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post Essential Thrombocythemia Myelofibrosis Recruiting NCT04173494 Phase 3 Momelotinib;Danazol;Placebo to match momelotinib;Placebo to match danazol
18 A Randomized, Controlled Phase 3 Study of Pacritinib Versus Physician's Choice in Patients With Primary Myelofibrosis, Post Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis With Severe Thrombocytopenia (Platelet Count <50,000/μL)(PACIFICA) Recruiting NCT03165734 Phase 3 Pacritinib;Physician's Choice medications
19 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
20 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
21 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
22 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
23 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
24 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
25 An Open-Label Assessment of Safety and Efficacy of Ruxolitinib (INCB018424) in Subjects With Primary Myelofibrosis, Post- Essential Thrombocythemia Myelofibrosis, and Post-Polycythemia Vera Myelofibrosis Who Have Platelet Counts of 50 × 10^9/L to 100 × 10^9/L Completed NCT01348490 Phase 2 Ruxolitinib
26 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
27 A Phase II Study of Velcade (Bortezomib - PS341) in the Treatment of Patients Over 18 Years With Ph+ Leukemia Completed NCT00511069 Phase 2 Bortezomib
28 Multi-Center Phase II Study With Pomalidomide in Patients With Myeloproliferative Neoplasms in Fibrotic Stage Completed NCT00949364 Phase 2 Pomalidomide
29 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
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 A Phase II Trial of R115777 in Myelofibrosis With Myeloid Metaplasia (MMM) Completed NCT00047190 Phase 2 tipifarnib
32 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
33 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
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 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
36 A Phase II Single-Arm Study of the Efficacy and Safety of Oral Rigosertib in Patients With Myelofibrosis (MF) and Anemia Completed NCT02730884 Phase 2 Rigosertib
37 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
38 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
39 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
40 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
41 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
42 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
43 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
44 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
45 A Phase 2 Open-Label Study Evaluating Tolerability and Efficacy of Navitoclax Alone or in Combination With Ruxolitinib in Subjects With Myelofibrosis Recruiting NCT03222609 Phase 2 Ruxolitinib;Navitoclax
46 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
47 Efficacy and Safety of Rapamycin Therapy for Patients With Activated Phosphoinositide 3-Kinase δ Syndrome Recruiting NCT03383380 Phase 1, Phase 2 Rapamycin
48 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
49 Prospective, Sequential Multiple Assignment, Multicentric, Phase II Randomized Controlled Trial on Two Parallel Groups Comparing the Efficacy of Two Immunosuppressive Drugs (Methotrexate, Cyclophosphamide) in Large Granular Lymphocytes Leukemia Recruiting NCT01976182 Phase 2 Methotrexate;Cyclophosphamide
50 A Phase II Study of Obinutuzumab and Lenalidomide in Previously Untreated Subjects With Follicular Lymphoma Active, not recruiting NCT02871219 Phase 2 Lenalidomide

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Genetic Tests for Splenomegaly

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Genetic tests related to Splenomegaly:

# Genetic test Affiliating Genes
1 Splenomegaly 29
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Anatomical Context for Splenomegaly

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MalaCards organs/tissues related to Splenomegaly:

40
Spleen, Liver, T Cells, Myeloid, B Cells, Bone, Bone Marrow
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Publications for Splenomegaly

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Articles related to Splenomegaly:

(show top 50) (show all 13824)
# Title Authors PMID Year
1
Prolidase deficiency: it looks like systemic lupus erythematosus but it is not. 61 54
19937054 2010
2
Conditional expression of heterozygous or homozygous Jak2V617F from its endogenous promoter induces a polycythemia vera-like disease. 61 54
20197548 2010
3
Mobilization of hematopoietic stem cells in a thalassemic mouse model: implications for human gene therapy of thalassemia. 61 54
19795976 2010
4
Transferrin therapy ameliorates disease in beta-thalassemic mice. 54 61
20098432 2010
5
Potential conditions causing impairment of selective hepatobiliary enhancement of gadobenate dimeglumine-enhanced delayed magnetic resonance imaging. 61 54
20118733 2010
6
[Voluminous nodular splenomegaly in Gaucher disease: a case report]. 61 54
19375198 2009
7
Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation. 61 54
19592052 2009
8
Emerging drugs for the therapy of primary and post essential thrombocythemia, post polycythemia vera myelofibrosis. 54 61
19552608 2009
9
How I treat symptomatic splenomegaly in patients with myelofibrosis. 54 61
19332765 2009
10
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. 54 61
19325510 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). 61 54
19217201 2009
12
Novel strategies for patients with chronic myeloproliferative disorders. 54 61
19468275 2009
13
Interferon-alpha therapy in bcr-abl-negative myeloproliferative neoplasms. 54 61
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. 61 54
18443796 2008
15
Prevalence of the JAK2-V617F mutation in Taiwanese patients with chronic myeloproliferative disorders. 54 61
18336541 2008
16
Hepatic involvement and portal hypertension predict mortality in chronic granulomatous disease. 54 61
18439425 2008
17
Transgenic expression of JAK2V617F causes myeloproliferative disorders in mice. 61 54
18334677 2008
18
Differences in bone responses to recombinant human granulocyte colony-stimulating factor between mice and rats. 61 54
18544917 2008
19
Clinical and laboratory evaluation of 101 patients with intrahepatic neonatal cholestasis. 61 54
18622471 2008
20
Neutrophil-selective CD18 silencing using RNA interference in vivo. 61 54
18216298 2008
21
Acute thrombocytopenia after liver transplant: role of platelet activation, thrombopoietin deficiency and response to high dose intravenous IgG treatment. 61 54
17716776 2007
22
Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. 54 61
17999750 2007
23
PET positive generalized lymphadenopathy and splenomegaly following interferon-alfa-2b adjuvant therapy for melanoma. 54 61
17885361 2007
24
Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency. 54 61
17570078 2007
25
[Elevated Hemoglobin--polyglobulia or polycythemia?]. 61 54
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. 61 54
17207228 2007
27
Recombinant human erythropoietin for the treatment of anaemia in patients with chronic idiopathic myelofibrosis. 61 54
17159338 2007
28
Schistosomiasis mansoni: novel chemotherapy using a cysteine protease inhibitor. 54 61
17214506 2007
29
Molecular pathogenesis and therapy of polycythemia induced in mice by JAK2 V617F. 61 54
17183644 2006
30
Ulcus cruris associated with prolidase deficiency. 54 61
17459310 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. 54 61
16972172 2006
32
Feasibility and safety of G-CSF administration to induce bone marrow-derived cells mobilization in patients with end stage liver disease. 61 54
16635534 2006
33
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. 61 54
16834459 2006
34
Haptoglobin levels are associated with haptoglobin genotype and alpha+ -Thalassemia in a malaria-endemic area. 54 61
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. 54 61
16128946 2005
36
Relevance of the criteria commonly used to diagnose myeloproliferative disorder in patients with splanchnic vein thrombosis. 61 54
15877740 2005
37
Polyclonal proliferation of plasma cells associated with marked hypergammaglobulinemia in an elderly patient. 61 54
15717691 2005
38
Hemophagocytosis exacerbated by G-CSF/GM-CSF treatment in a patient with myelodysplasia. 54 61
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. 61 54
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. 54 61
15198956 2004
41
Screening for functional sequence variations and mutations in ABCA1. 54 61
15262183 2004
42
Polycythemia vera and idiopathic erythrocytosis: comparison of clinical and laboratory parameters. 61 54
15270182 2004
43
Urothelial cancer producing granulocyte colony-stimulating factor: possible induction of splenomegaly. 61 54
14972497 2004
44
High levels of osteopontin associated with polymorphisms in its gene are a risk factor for development of autoimmunity/lymphoproliferation. 54 61
14592838 2004
45
Chronic myelogenous leukemia with e13a3 (b2a3) type of BCR-ABL transcript having a DNA breakpoint between ABL exons a2 and a3. 54 61
14635208 2003
46
Myelofibrosis with myeloid metaplasia. 54 61
14560783 2003
47
Refractory chronic GVHD emerging after splenectomy in a marrow transplant recipient with accelerated phase CML. 61 54
12858207 2003
48
Modern treatment strategies in polycythemia vera. 54 61
12682879 2003
49
Permanent and panerythroid correction of murine beta thalassemia by multiple lentiviral integration in hematopoietic stem cells. 54 61
12391330 2002
50
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1. 61 54
12373578 2002
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Variations for Splenomegaly

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ClinVar genetic disease variations for Splenomegaly:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SBDS NM_016038.4(SBDS):c.258+2T>CSNV Pathogenic 3196 rs113993993 7:66459197-66459197 7:66994210-66994210
2 JAK2 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe)SNV Pathogenic 14662 rs77375493 9:5073770-5073770 9:5073770-5073770
3 HBA1 , HBA2 , LOC106804612 NM_000517.6(HBA2):c.410T>C (p.Leu137Pro)SNV Pathogenic 15655 rs41469945 16:223580-223580 16:173581-173581
4 SBDS NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)SNV Pathogenic/Likely pathogenic 449095 rs120074160 7:66459273-66459273 7:66994286-66994286
5 ADA2 NM_001282225.2(ADA2):c.144dup (p.Arg49fs)duplication Pathogenic/Likely pathogenic 586963 rs756881285 22:17690423-17690424 22:17209533-17209534
6 subset of 172 genes: ARCN1 , HMBS , KMT2A deletion Likely pathogenic 812956 11:114433313-131230466
7 SLC37A4 NM_001164277.1(SLC37A4):c.81T>A (p.Asn27Lys)SNV Conflicting interpretations of pathogenicity 68290 rs193302889 11:118899999-118899999 11:119029289-119029289
8 FAS NM_000043.6(FAS):c.536T>G (p.Leu179Arg)SNV Conflicting interpretations of pathogenicity 523313 rs1554851718 10:90770540-90770540 10:89010783-89010783
9 GATA2 NM_001145661.2(GATA2):c.971A>G (p.Lys324Arg)SNV Uncertain significance 523417 rs1480450110 3:128202749-128202749 3:128483906-128483906
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Expression for Splenomegaly

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Search GEO for disease gene expression data for Splenomegaly.
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Pathways for Splenomegaly

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Pathways related to Splenomegaly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
PI3K-Akt signaling pathway 36
Show member pathways
 12.55 JAK2 IFNA2 IFNA1 FAS EPO
2
Pathways in cancer 36
12.28 JAK2 IFNA2 IFNA1 FAS EPO
3
NF-kappaB Signaling 4
12.18 MPL JAK2 IFNA1 FAS
4
Factors involved in megakaryocyte development and platelet production 65
11.8 JAK2 IFNA2 IFNA1
5
Hematopoietic Stem Cells and Lineage-specific Markers 64
11.64 MPL IFNA2 EPO
6
Necroptosis 36
Show member pathways
 11.49 JAK2 IFNA2 IFNA1 FAS
7
JAK-STAT signaling pathway 36
Show member pathways
 11.42 MPL JAK2 IFNA2 IFNA1 EPO
8
Interferon Pathway 63
11.39 JAK2 IFNA2 IFNA1
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GO Terms for Splenomegaly

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.56 IFNA2 IFNA1 HBA2 FAS EPO CHIT1
2 extracellular space GO:0005615 9.23 IFNA2 IFNA1 HBA2 GBA EPO CHIT1
3 endocytic vesicle lumen GO:0071682 9.16 HBA2 APOE

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

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.62 MPL JAK2 IFNA2 IFNA1
2 T cell activation involved in immune response GO:0002286 9.43 IFNA2 IFNA1
3 positive regulation of peptidyl-serine phosphorylation of STAT protein GO:0033141 9.4 IFNA2 IFNA1
4 natural killer cell activation involved in immune response GO:0002323 9.37 IFNA2 IFNA1
5 response to dexamethasone GO:0071548 9.26 GBA EPO
6 regulation of protein metabolic process GO:0051246 9.16 GBA APOE
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.13 JAK2 IFNA2 EPO
8 negative regulation of cellular protein metabolic process GO:0032269 8.62 GBA APOE

Molecular functions related to Splenomegaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine receptor binding GO:0005126 8.96 IFNA2 IFNA1
2 type I interferon receptor binding GO:0005132 8.62 IFNA2 IFNA1
Sources

Sources for Splenomegaly

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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