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MCID: SPL018
MIFTS: 46

Splenomegaly

Categories: 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 53 29 55 6

Classifications:

MalaCards categories:
Global: Rare diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

ICD10 33 R16.1
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Summaries for Splenomegaly

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MalaCards based summary : Splenomegaly is related to polycythemia vera and retinitis pigmentosa and erythrocytic microcytosis. An important gene associated with Splenomegaly is SBDS (SBDS, Ribosome Maturation Factor), and among its related pathways/superpathways are Regulation of IFNA signaling and Jak-Stat Signaling Pathway. The drugs rituximab and Praziquantel have been mentioned in the context of this disorder. Affiliated tissues include b cells, spleen and liver, and related phenotypes are cellular and homeostasis/metabolism

Wikipedia : 76 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 289)
# Related Disease Score Top Affiliating Genes
1 polycythemia vera 31.3 EPO JAK2 MPL
2 retinitis pigmentosa and erythrocytic microcytosis 29.9 EPO JAK2
3 chronic myelomonocytic leukemia 29.9 JAK2 SETBP1
4 myeloproliferative neoplasm 29.9 JAK2 MPL
5 pancytopenia 29.8 EPO MPL
6 myelofibrosis 29.8 EPO IFNA2 JAK2 MPL
7 essential thrombocythemia 29.7 EPO IFNA2 JAK2 MPL
8 polycythemia 29.5 EPO JAK2 MPL
9 thrombocytosis 29.4 EPO JAK2 MPL
10 systemic mastocytosis 29.2 IFNA2 JAK2
11 leukemia, acute myeloid 29.1 JAK2 MPL SETBP1
12 refractory anemia 29.0 EPO JAK2 MPL
13 leukemia, chronic myeloid 28.9 EPO IFNA2 JAK2 MPL SETBP1
14 thrombocytopenic purpura, autoimmune 28.9 IFNA2 MPL
15 myelodysplastic syndrome 28.4 EPO JAK2 MPL SETBP1
16 splenomegaly, cytopenia, and vision loss 12.2
17 chronic congestive splenomegaly 12.2
18 myeloid splenomegaly 12.1
19 splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t helper cells 11.9
20 felty syndrome 11.6
21 sea-blue histiocyte disease 11.5
22 gaucher's disease 11.4
23 hypersplenism 11.4
24 banti's syndrome 11.2
25 zimmermann-laband syndrome 1 11.2
26 b-cell expansion with nfkb and t-cell anergy 11.2
27 hereditary spherocytosis 11.2
28 gray platelet syndrome 11.1
29 prolidase deficiency 11.1
30 hairy cell leukemia 11.0
31 wandering spleen 11.0
32 persistent polyclonal b-cell lymphocytosis 11.0
33 niemann-pick disease, type c1 11.0
34 anemia, autoimmune hemolytic 11.0
35 pdgfrb-associated chronic eosinophilic leukemia 11.0
36 autoimmune lymphoproliferative syndrome 11.0
37 common variable immunodeficiency 11.0
38 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 10.9
39 tang hsi ryu syndrome 10.9
40 ras-associated autoimmune leukoproliferative disorder 10.8
41 lymphoproliferative syndrome, x-linked, 2 10.8
42 caspase 8 deficiency 10.8
43 autoinflammation with infantile enterocolitis 10.8
44 thrombocytopenia with beta-thalassemia, x-linked 10.8
45 spherocytosis, type 2 10.8
46 immunodeficiency 52 10.8
47 hemophagocytic lymphohistiocytosis, familial, 4 10.7
48 brucella canis brucellosis 10.7
49 stomatocytosis i 10.7
50 overhydrated hereditary stomatocytosis 10.7

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.88 APOE EPO GBA JAK2 MPL SBDS
2 homeostasis/metabolism MP:0005376 9.87 APOE EPO GBA JAK2 MPL SBDS
3 hematopoietic system MP:0005397 9.85 MPL SBDS APOE EPO GBA JAK2
4 immune system MP:0005387 9.73 APOE EPO GBA JAK2 MPL SBDS
5 liver/biliary system MP:0005370 9.55 APOE EPO GBA JAK2 SBDS
6 mortality/aging MP:0010768 9.5 APOE EPO GBA JAK2 MPL SBDS
7 skeleton MP:0005390 9.02 APOE EPO GBA JAK2 SBDS
Sources

Drugs & Therapeutics for Splenomegaly

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

(show top 50) (show all 224)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 4,Phase 3,Phase 2,Phase 1 174722-31-7 10201696
2
Praziquantel Approved, Investigational, Vet_approved Phase 4 55268-74-1 4891
3
Chlorambucil Approved Phase 4,Phase 3,Phase 2 305-03-3 2708
4
Zinc Approved, Investigational Phase 4 7440-66-6 23994
5
Lactitol Investigational Phase 4 585-86-4 3871
6 Alkylating Agents Phase 4,Phase 3,Phase 2,Phase 1
7 Antibodies Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
8 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
9 Antibodies, Monoclonal Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
10 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Antineoplastic Agents, Alkylating Phase 4,Phase 3,Phase 2,Phase 1
12 Anthelmintics Phase 4,Phase 3
13 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 Antiparasitic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
15 Bendamustine Hydrochloride Phase 4,Phase 3,Phase 2,Phase 1
16
Fludarabine Approved Phase 3,Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
17
Vincristine Approved, Investigational Phase 3,Phase 1,Phase 2 2068-78-2, 57-22-7 5978
18
Methotrexate Approved Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
19
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
20
Vidarabine Approved, Investigational Phase 3,Phase 2,Phase 1 24356-66-9 32326 21704
21
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
22
Dasatinib Approved, Investigational Phase 3,Phase 2,Phase 1 302962-49-8 3062316
23
Pentostatin Approved, Investigational Phase 3,Phase 2,Phase 1 53910-25-1 40926 439693
24
Lenalidomide Approved Phase 3,Phase 2,Phase 1 191732-72-6 216326
25
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
26
Cytarabine Approved, Investigational Phase 3,Phase 1,Phase 2 147-94-4 6253
27
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 1,Phase 2 22916-47-8 4189
28
Formaldehyde Approved, Vet_approved Phase 3 50-00-0 712
29
Prednisolone Approved, Vet_approved Phase 3,Phase 2 50-24-8 5755
30
Miltefosine Approved, Investigational Phase 3 58066-85-6 3600
31
Paromomycin Approved, Investigational Phase 3 1263-89-4, 7542-37-2 165580
32
Adenosine Approved, Investigational Phase 3,Phase 2,Phase 1 58-61-7 60961
33
Methylprednisolone Approved, Vet_approved Phase 3,Phase 2 83-43-2 6741
34
Obinutuzumab Approved, Investigational Phase 3,Phase 2,Phase 1 949142-50-1
35
Idelalisib Approved Phase 3 870281-82-6
36
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
37
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
38
Aluminum hydroxide Approved, Investigational Phase 3 21645-51-2
39
Hydroxyurea Approved Phase 3,Phase 2 127-07-1 3657
40
Danazol Approved Phase 3 17230-88-5 28417
41
Melphalan Approved Phase 3 148-82-3 4053 460612
42
leucovorin Approved, Nutraceutical Phase 3,Phase 2,Phase 1,Not Applicable 58-05-9 143 6006
43
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 59-30-3 6037
44
Doxil Approved June 1999 Phase 3,Phase 2 31703
45 Folic Acid Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
46 Dermatologic Agents Phase 3,Phase 2,Phase 1
47 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1
48 Vitamin B Complex Phase 3,Phase 2,Phase 1,Not Applicable
49 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
50 Antimetabolites Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 231)
# Name Status NCT ID Phase Drugs
1 Exploratory Phase II Study of INC424 Patients With Primary Myelofibrosis (PMF) or Post Polycythaemia Myelofibrosis (PPV MF) or Post Essential Thrombocythaemia Myelofibrosis (PET-MF) Completed NCT01558739 Phase 4 INC424
2 A Study of MabThera Added to Bendamustine or Chlorambucil in Patients With Chronic Lymphocytic Leukemia (MaBLe) Completed NCT01056510 Phase 4 bendamustine;chlorambucil;rituximab [MabThera/Rituxan]
3 Efficacy and Safety of Ofatumumab Retreatment and Maintenance Treatment in Patients With B-cell Chronic Lymphocytic Leukemia (CLL) Completed NCT00802737 Phase 4 Ofatumumab
4 Evaluation of Praziquantel Dosage for Treatment of Schistosomiasis in Brazil Completed NCT00403611 Phase 4 Praziquantel 60 mg/kg;Praziquantel 40 mg/kg
5 CINC424A2X01B Rollover Protocol Recruiting NCT02386800 Phase 4 Ruxolitinib
6 Phase III Study of Vincristine Sulfate Liposome For Injection In Adults With Naïve Acute Lymphoblastic Leukemia Unknown status NCT02072785 Phase 3 Vincristine Sulfate Liposome;Vincristine Sulfate
7 Phase III Study of SAR302503 in Intermediate-2 and High Risk Patients With Myelofibrosis Completed NCT01437787 Phase 3 SAR302503;Placebo
8 A Study of PCI-32765 (Ibrutinib) Versus Rituximab in Relapsed or Refractory Chronic Leukemia/Lymphoma Completed NCT01973387 Phase 3 Rituximab;Ibrutinib
9 Phase III Study Investigating the Efficacy and Safety of Ruxolitinib in Early Myelofibrosis Patients With High Molecular Risk Mutations. Completed NCT02598297 Phase 3 Ruxolitinib;Ruxolitinib Placebo
10 A Study of MabThera (Rituximab) in Patients With Advanced Non-Hodgkin's Lymphoma Completed NCT00269113 Phase 3 rituximab [MabThera/Rituxan];Standard chemotherapy
11 Advanced Chronic Myelogenous Leukemia (CML) - Follow On: Study of BMS-354825 in Subjects With CML Completed NCT00123487 Phase 3 dasatinib;dasatinib
12 A Study of Subcutaneous Versus Intravenous MabThera/Rituxan (Rituximab) in Combination With CHOP Chemotherapy in Patients With Previously Untreated CD20-Positive Diffuse Large B-Cell Lymphoma Completed NCT01649856 Phase 3 CHOP;rituximab [MabThera/Rituxan];rituximab [MabThera/Rituxan]
13 Open-label Phase 3 BTK Inhibitor Ibrutinib vs Chlorambucil Patients 65 Years or Older With Treatment-naive CLL or SLL Completed NCT01722487 Phase 3 Ibrutinib;Chlorambucil
14 Phase III, Study of Three Short Course Combo (Ambisome®, Miltefosine, Paromomycin) Compared With AmBisome for the Treatment of VL in Bangladesh Completed NCT01122771 Phase 3 Liposomal amphotericin B;liposomal amphotericin B + miltefosine;liposomal amphotericin B + paromomycin;Miltefosine + Paromomycin
15 High-Dose Gleevec Alone or in Combination With Peg-Intron and GM-CSF in Early Phase Chronic Myelogenous Leukemia (CML) Completed NCT00050531 Phase 3 Gleevec;Peg-alpha interferon (Peg-Intron);Sargramostim (GM-CSF)
16 Extension Study of Idelalisib for Patients With Chronic Lymphocytic Leukemia Who Participated in GS-US-312-0116 Completed NCT01539291 Phase 3 Idelalisib
17 CLL11: A Study of Rituximab With Chlorambucil or Chlorambucil Alone in Patients With Previously Untreated Chronic Lymphocytic Leukemia (Stage 1b) Completed NCT01998880 Phase 3 obinutuzumab;rituximab;chlorambucil
18 A Randomized, Double-Blind, Placebo-Controlled Study of Idelalisib in Combination With Rituximab for Previously Treated Chronic Lymphocytic Leukemia (CLL) Completed NCT01539512 Phase 3 Idelalisib;Rituximab;Placebo to match idelalisib
19 Ross River Virus (RRV) Vaccine Study Completed NCT01242670 Phase 3
20 Chronic Myelogenous Leukemia (CML) - Follow on: Study of BMS-354825 in Subjects With CML Completed NCT00123474 Phase 3 dasatinib;dasatinib;dasatinib;dasatinib
21 CLL11: A Study of Obinutuzumab (RO5072759 [GA101]) With Chlorambucil in Patients With Previously Untreated Chronic Lymphocytic Leukemia (Stage 2) Completed NCT02053610 Phase 3 obinutuzumab;rituximab;chlorambucil
22 Fludarabine and Cyclophosphamide With or Without Rituximab in Patients With Previously Untreated Chronic B-Cell Lymphocytic Leukemia Completed NCT00281918 Phase 3 Rituximab;Cyclophosphamide;Fludarabine Phosphate
23 CLL11: A Study of Obinutuzumab (RO5072759 [GA101]) With Chlorambucil in Patients With Previously Untreated Chronic Lymphocytic Leukemia (Stage 1a) Completed NCT01010061 Phase 3 obinutuzumab;rituximab;chlorambucil
24 A Study of RoActemra/Actemra (Tocilizumab) in Patients With Active Systemic Juvenile Idiopathic Arthritis (JIA) Completed NCT00642460 Phase 3 tocilizumab [RoActemra/Actemra];Placebo;Non-steroidal anti-inflammatory drugs (NSAIDs);methotrexate;corticosteroids
25 Ofatumumab vs Physician's Choice in Subjects With Bulky Fludarabine-Refractory Chronic Lymphocytic Leukemia Completed NCT01313689 Phase 3 Ofatumumab;Physicians' Choice
26 Compare Bosutinib To Imatinib In Subjects With Newly Diagnosed Chronic Phase Philadelphia Chromosome Positive CML Completed NCT00574873 Phase 3 Bosutinib;imatinib
27 Ofatumumab Added to Fludarabine-Cyclophosphamide vs Fludarabine-Cyclophosphamide Combination in Relapsed Subjects With Chronic Lymphocytic Leukemia Completed NCT00824265 Phase 3 OFC Infusion;FC infusion
28 A Long-Term Extension Study of RoActemra/Actemra (Tocilizumab) in Patients With Juvenile Idiopathic Arthritis Who Completed WA19977 Core Study Completed NCT01667471 Phase 3 tocilizumab [RoActemra/Actemra]
29 A Study of Participant Preference With Subcutaneous Versus Intravenous MabThera/Rituxan in Participants With CD20+ Diffuse Large B-Cell Lymphoma or CD20+ Follicular Non-Hodgkin's Lymphoma Grades 1, 2 or 3a Completed NCT01724021 Phase 3 Cyclophosphamide, Hydroxydaunorubicin, Oncovin, Prednisone/Prednisolone (CHOP);Cyclophosphamide, Vincristine, Prednisone/Prednisolone (CVP);Bendamustine;Rituximab;Rituximab;Rituximab;Rituximab
30 An Open-label Extension Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis and Active Systemic Manifestations Manifestations and Response Characterization Study in Canakinumab Treatment-naïve Patients With Active SJIA With and Wi Completed NCT00891046 Phase 3 Canakinumab
31 MabRella Study: A Study to Evaluate the Safety of Switching From Intravenous to Subcutaneous Administration of Rituximab During First-Line Treatment for Lymphoma Completed NCT01987505 Phase 3 Rituximab
32 A Long-Term Extension Study of RoActemra/Actemra (Tocilizumab) in Patients With Juvenile Idiopathic Arthritis From France Who Completed WA19977 Core Study Completed NCT01673919 Phase 3 tocilizumab [RoActemra/Actemra]
33 A Study of MabThera/Rituxan (Rituximab) Alone and in Combination With Roferon-A in Patients With Follicular or Other CD20+ Low-Grade (Indolent) Lymphoma Completed NCT01609010 Phase 3 rituximab;interferon-a-2a
34 Fludarabine, Cyclophosphamide, and Rituximab Versus Pentostatin, Cyclophosphamide, and Rituximab in Previously Untreated or Treated B-Cell Chronic Lymphocytic Leukemia Patients Completed NCT00254163 Phase 3 Fludarabine;Cyclophosphamide;Rituximab;Pentostatin
35 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
36 Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency Recruiting NCT03113760 Phase 3 Tadekinig alfa;Placebo
37 A Study of the Combination of Ibrutinib Plus Venetoclax Versus Chlorambucil Plus Obinutuzumab for the First-line Treatment of Participants With Chronic Lymphocytic Leukemia (CLL)/Small Lymphocytic Lymphoma (SLL) Recruiting NCT03462719 Phase 3 Ibrutinib;Venetoclax;Chlorambucil;Obinutuzumab
38 A Study to Evaluate Efficacy and Safety of Anakinra in the Treatment of Still's Disease (SJIA and AOSD) Recruiting NCT03265132 Phase 3 Placebo
39 A Study to Evaluate the Benefit of Venetoclax Plus Rituximab Compared With Bendamustine Plus Rituximab in Participants With Relapsed or Refractory Chronic Lymphocytic Leukemia (CLL) Active, not recruiting NCT02005471 Phase 3 Bendamustine;Venetoclax;Rituximab
40 A Phase 3 Study of Ibrutinib (PCI-32765) Versus Ofatumumab in Patients With Relapsed or Refractory Chronic Lymphocytic Leukemia Active, not recruiting NCT01578707 Phase 3 ofatumumab;ibrutinib
41 AOP2014 vs. BAT in Patients With Polycythemia Vera Who Previously Participated in the PROUD-PV Study. Active, not recruiting NCT02218047 Phase 3 Pegylated-Proline-interferon alpha-2b;Best available therapy (BAT)
42 Study Of The Effectiveness & Safety Of Lenalidomide Versus Chlorambucil As First Line Therapy For Elderly Patients With B-Cell CLL (The ORIGIN Trial) Active, not recruiting NCT00910910 Phase 3 Lenalidomide;Chlorambucil
43 Ibrutinib and Rituximab Compared With Fludarabine Phosphate, Cyclophosphamide, and Rituximab in Treating Patients With Untreated Chronic Lymphocytic Leukemia or Small Lymphocytic Lymphoma Active, not recruiting NCT02048813 Phase 3 Cyclophosphamide;Fludarabine Phosphate;Ibrutinib
44 Efficacy and Safety of Idelalisib (GS-1101; CAL-101) in Combination With Ofatumumab for Previously Treated Chronic Lymphocytic Leukemia Active, not recruiting NCT01659021 Phase 3 Idelalisib;Ofatumumab
45 A Randomized, Double-Blind and Placebo-Controlled Study of Idelalisib in Combination With Bendamustine and Rituximab for Previously Treated Chronic Lymphocytic Leukemia (CLL) Active, not recruiting NCT01569295 Phase 3 Idelalisib;Rituximab;Bendamustine;Placebo to match idelalisib
46 A Study Comparing BGB-3111 and Ibrutinib in Subjects With Waldenström's Macroglobulinemia (WM) Active, not recruiting NCT03053440 Phase 3 BGB-3111;Ibrutinib
47 Ofatumumab + Chlorambucil vs Chlorambucil Monotherapy in Previously Untreated Patients With Chronic Lymphocytic Leukemia Active, not recruiting NCT00748189 Phase 3 chlorambucil, tablets;ofatumumab (GSK1841157) infusion
48 A Randomized Trial to Prevent Congenital Cytomegalovirus (CMV) Active, not recruiting NCT01376778 Phase 3 CMV hyperimmune globulin
49 A Study of the Safety and Efficacy of CNTO 148 (Golimumab) in Children With Juvenile Idiopathic Arthritis (JIA) and Multiple Joint Involvement Who Have Poor Response to Methotrexate (GO KIDS) Terminated NCT01230827 Phase 3 CNTO 148 (Golimumab);Placebo;Methotrexate
50 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis With Thrombocytopenia Terminated NCT02055781 Phase 3 Pacritinib;Best Available Therapy

Search NIH Clinical Center for Splenomegaly

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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:

41
B Cells, Spleen, Liver, Bone, Myeloid, Bone Marrow, T Cells
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Publications for Splenomegaly

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Articles related to Splenomegaly:

(show top 50) (show all 731)
# Title Authors Year
1
Use of Iodized Oil and Gelatin Sponge Embolization in Splenic Artery Coiling Reduces Bleeding from Laparoscopic Splenectomy for Cirrhotic Portal Hypertension Patients with Complicating Hypersplenic Splenomegaly: A Comparative Study. ( 29608435 )
2018
2
Determination of splenomegaly by coronal oblique length on CT. ( 29143912 )
2018
3
Robust Multicontrast MRI Spleen Segmentation for Splenomegaly Using Multi-Atlas Segmentation. ( 29364118 )
2018
4
Hepatosplenic T cell lymphoma: a unifying entity in a patient with hemolytic anemia, massive splenomegaly, and liver dysfunction. ( 29766398 )
2018
5
Distribution characteristics of cells in splenomegaly due to hepatitis B-related cirrhotic portal hypertension and their clinical importance. ( 29781346 )
2018
6
Massive splenomegaly due to B-cell lymphoma: A case report. ( 29885916 )
2018
7
Hepatic schistosomiasis with massive splenomegaly: a case report and literature review. ( 29562382 )
2018
8
Robotic vs laparoscopic splenectomy for splenomegaly: A retrospective comparative cohort study. ( 29753953 )
2018
9
Short-term administration of JAK2 inhibitors reduces splenomegaly in mouse models of I^-thalassemia intermedia and major. ( 29097498 )
2018
10
A case of massive splenomegaly due to chronic myeloproliferative neoplasm. ( 29868160 )
2018
11
Severe pancytopenia and splenomegaly associated with felty's syndrome, both fully responsive solely to corticosteroids. ( 29531729 )
2018
12
Splenomegaly: Pathophysiological bases and therapeutic options. ( 29191734 )
2018
13
Splenomegaly Segmentation using Global Convolutional Kernels and Conditional Generative Adversarial Networks. ( 29887666 )
2018
14
A Rare Cause of Splenomegaly. ( 29510830 )
2018
15
Discriminatory CT-textural features in splenic infiltration of lymphoma versus splenomegaly in liver cirrhosis versus normal spleens in controls and evaluation of their role for longitudinal lymphoma monitoring. ( 29857858 )
2018
16
Ruxolitinib for the treatment of inadequately controlled polycythemia vera without splenomegaly: 80-week follow-up from the RESPONSE-2 trial. ( 29804268 )
2018
17
Ruxolitinib is effective and safe in Japanese patients with hydroxyurea-resistant or hydroxyurea-intolerant polycythemia vera with splenomegaly. ( 28956263 )
2018
18
Praziquantel Targets M1 Macrophages and Ameliorates Splenomegaly in Chronic Schistosomiasis. ( 29061758 )
2018
19
Understanding Splenomegaly in Myelofibrosis: Association with Molecular Pathogenesis. ( 29562644 )
2018
20
Hsp90 inhibition disrupts JAK-STAT signaling and leads to reductions in splenomegaly in patients with myeloproliferative neoplasms. ( 29051283 )
2018
21
Captopril mitigates splenomegaly and myelofibrosis in the Gata1<sup>low</sup> murine model of myelofibrosis. ( 29971909 )
2018
22
Disseminated coccidioidomycosis with molluscum-like lesions, diffuse lymphadenopathy, and splenomegaly in an immunocompetent patient. ( 28769594 )
2017
23
The Best Single Measurement for Assessing Splenomegaly in Patients with Cirrhotic Liver Morphology. ( 28800952 )
2017
24
Steroid-Refractory Autoimmune Hemolytic Anemia with Massive Splenomegaly. ( 28389309 )
2017
25
Unusual case of splenomegaly and pancytopenia in a returned traveller. ( 29105271 )
2017
26
Turf wars: exploring splenomegaly in sickle cell disease in malaria-endemic regions. ( 28493472 )
2017
27
Patients with Fever of Unknown Origin and Splenomegaly: Diagnostic Value of Splenectomy and Preoperative Risk Factors Suggestive of Underlying Lymphomas. ( 28586777 )
2017
28
Hairy cell leukemia: a case report of atypical presentation without splenomegaly. ( 28698853 )
2017
29
Ruxolitinib for the treatment of inadequately controlled polycythaemia vera without splenomegaly (RESPONSE-2): a randomised, open-label, phase 3b study. ( 27916398 )
2017
30
Single port laparoscopic splenectomy for wandering spleen with splenomegaly in a patient with Wolf-Hirschhorn syndrome. ( 28281478 )
2017
31
Splenomegaly ( 28613657 )
2017
32
Splenomegaly and the JAK2 V617F mutation. ( 27727073 )
2017
33
Splenomegaly - Diagnostic validity, work-up, and underlying causes. ( 29135986 )
2017
34
Bone marrow fibrosis in chronic myelomonocytic leukemia is associated with increased megakaryopoiesis, splenomegaly and with a shorter median time to disease progression. ( 29262560 )
2017
35
<sup>18</sup> F-Fluorodeoxyglucose positron emission tomography-computed tomography imaging in HIV-infected patients with lymphadenopathy, with or without fever and/or splenomegaly. ( 29198183 )
2017
36
Emergency splenectomy for trauma in the setting of splenomegaly, axillary lymphadenopathy, and incidental B-cell chronic lymphocytic leukemia: A case report. ( 28686924 )
2017
37
Fever of unknown origin and splenomegaly: A case report of blood culture negative endocarditis. ( 29390335 )
2017
38
Splenomegaly in small-breed dogs: 45 cases(2005-2011). ( 28467747 )
2017
39
Splenomegaly in the returning traveller: a diagnostic workup. ( 28077481 )
2017
40
Effect of gold nanoparticles on mice splenomegaly induced by schistosomiasis mansoni. ( 28855840 )
2017
41
A case of splenomegaly in CBL syndrome. ( 28414188 )
2017
42
Massive splenomegaly due to concurrent primary Epstein-Barr virus and cytomegalovirus infection in a patient on adalimumab. ( 28864556 )
2017
43
Comparing Physical Examination With Sonographic Versions of the Same Examination Techniques for Splenomegaly. ( 29219201 )
2017
44
B-cell activating factor deficiency suppresses splenomegaly during Leishmania donovani infection. ( 28583852 )
2017
45
A Case of Nephrotic Syndrome with Thrombocytopenia, Lymphadenopathy, Systemic Inflammation, and Splenomegaly. ( 29269660 )
2017
46
Cystic splenomegaly: ectopic adenocarcinoma of unknown primary. ( 28663224 )
2017
47
Splenomegaly, myeloid lineage expansion and increased osteoclastogenesis in osteogenesis imperfecta murine. ( 28600151 )
2017
48
Fetal Splenomegaly: A Review. ( 29194292 )
2017
49
Image Diagnosis: A Gastric Signet-Ring Adenocarcinoma of Type Linitis Plastica Mimicking Splenomegaly in a Patient with Chronic Lymphocytic Leukemia. ( 28609263 )
2017
50
Laparoscopic Splenectomy for Massive Splenomegaly: Does Size Matter? ( 28799827 )
2017
Sources

Variations for Splenomegaly

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ClinVar genetic disease variations for Splenomegaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SBDS NM_016038.3(SBDS): c.258+2T> C single nucleotide variant Pathogenic rs113993993 GRCh37 Chromosome 7, 66459197: 66459197
2 SBDS NM_016038.3(SBDS): c.258+2T> C single nucleotide variant Pathogenic rs113993993 GRCh38 Chromosome 7, 66994210: 66994210
3 HBA1; HBA2; LOC106804612 NM_000517.4(HBA2): c.410T> C (p.Leu137Pro) single nucleotide variant Pathogenic rs41469945 GRCh37 Chromosome 16, 223580: 223580
4 HBA1; HBA2; LOC106804612 NM_000517.4(HBA2): c.410T> C (p.Leu137Pro) single nucleotide variant Pathogenic rs41469945 GRCh38 Chromosome 16, 173581: 173581
5 SBDS NM_016038.3(SBDS): c.184A> T (p.Lys62Ter) single nucleotide variant Pathogenic/Likely pathogenic rs120074160 GRCh38 Chromosome 7, 66994286: 66994286
6 SBDS NM_016038.3(SBDS): c.184A> T (p.Lys62Ter) single nucleotide variant Pathogenic/Likely pathogenic rs120074160 GRCh37 Chromosome 7, 66459273: 66459273
7 GATA2 NM_001145661.1(GATA2): c.971A> G (p.Lys324Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 128483906: 128483906
8 GATA2 NM_001145661.1(GATA2): c.971A> G (p.Lys324Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 128202749: 128202749
9 FAS NM_000043.5(FAS): c.536T> G (p.Leu179Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 89010783: 89010783
10 FAS NM_000043.5(FAS): c.536T> G (p.Leu179Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 90770540: 90770540
Sources

Expression for Splenomegaly

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Search GEO for disease gene expression data for Splenomegaly.
Sources

Pathways for Splenomegaly

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Pathways related to Splenomegaly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Regulation of IFNA signaling 66
Show member pathways
 11.52 EPO IFNA2 JAK2 MPL
2
Jak-Stat Signaling Pathway 67
11.28 EPO IFNA2 JAK2
3
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.2 EPO IFNA2 MPL
4
Paxillin-dependent events mediated by a4b1 1
Show member pathways
 10.97 EPO JAK2
5
Type II interferon signaling (IFNG) 1
10.82 IFNA2 JAK2
Sources

GO Terms for Splenomegaly

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.67 EPO MPL SBDS
2 cytokine-mediated signaling pathway GO:0019221 9.63 IFNA2 JAK2 MPL
3 response to estrogen GO:0043627 9.48 EPO GBA
4 erythrocyte differentiation GO:0030218 9.43 EPO JAK2
5 negative regulation of MAP kinase activity GO:0043407 9.4 APOE GBA
6 response to testosterone GO:0033574 9.37 EPO GBA
7 regulation of protein metabolic process GO:0051246 9.32 APOE GBA
8 response to dexamethasone GO:0071548 9.26 EPO GBA
9 negative regulation of cellular protein metabolic process GO:0032269 9.16 APOE GBA
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.13 EPO IFNA2 JAK2
11 negative regulation of neuron death GO:1901215 8.8 APOE EPO GBA
Sources

Sources for Splenomegaly

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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