MCID: SPL018
MIFTS: 45

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 JAK-STAT signaling pathway (KEGG) and Jak-Stat Signaling Pathway (sino). The drugs rituximab and Chlorambucil have been mentioned in the context of this disorder. Affiliated tissues include spleen, liver and bone, and related phenotype is liver/biliary system.

Wikipedia : 76 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 316)
# Related Disease Score Top Affiliating Genes
1 polycythemia vera 32.1 EPO JAK2 MPL
2 myelofibrosis 31.6 EPO IFNA2 JAK2 MPL
3 essential thrombocythemia 31.4 EPO IFNA2 JAK2 MPL
4 splenic disease 31.3 EPO GBA
5 leukemia, chronic myeloid 31.3 EPO IFNA2 JAK2 MPL SETBP1
6 polycythemia 30.1 EPO JAK2 MPL
7 thrombocytosis 30.1 EPO JAK2 MPL
8 sickle cell disease 30.0 EPO HBA2
9 hemolytic anemia 30.0 BPGM EPO HBA2
10 refractory anemia 29.7 EPO JAK2 MPL
11 systemic mastocytosis 29.7 IFNA2 JAK2
12 niemann-pick disease 29.6 CHIT1 GBA
13 thrombocytopenic purpura, autoimmune 29.4 IFNA2 MPL
14 hemoglobin h disease 29.4 EPO HBA2
15 myelodysplastic syndrome 29.1 EPO JAK2 MPL SBDS SETBP1
16 chronic congestive splenomegaly 12.3
17 splenomegaly, cytopenia, and vision loss 12.3
18 myeloid splenomegaly 12.2
19 splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t helper cells 12.0
20 sea-blue histiocyte disease 11.9
21 felty syndrome 11.7
22 gaucher's disease 11.5
23 hypersplenism 11.5
24 banti's syndrome 11.4
25 zimmermann-laband syndrome 1 11.3
26 b-cell expansion with nfkb and t-cell anergy 11.3
27 hereditary spherocytosis 11.3
28 gray platelet syndrome 11.3
29 prolidase deficiency 11.3
30 hairy cell leukemia 11.2
31 wandering spleen 11.2
32 persistent polyclonal b-cell lymphocytosis 11.2
33 anemia, autoimmune hemolytic 11.2
34 autoimmune lymphoproliferative syndrome 11.2
35 common variable immunodeficiency 11.2
36 pdgfrb-associated chronic eosinophilic leukemia 11.2
37 littoral cell angioma of the spleen 11.2
38 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.1
39 caspase 8 deficiency 11.1
40 tang hsi ryu syndrome 11.0
41 lymphoproliferative syndrome, x-linked, 2 11.0
42 thrombocytopenia with beta-thalassemia, x-linked 11.0
43 ras-associated autoimmune leukoproliferative disorder 11.0
44 autoinflammation with infantile enterocolitis 11.0
45 spherocytosis, type 2 11.0
46 immunodeficiency 52 11.0
47 spherocytosis, type 1 10.8
48 overhydrated hereditary stomatocytosis 10.8
49 cryohydrocytosis 10.8
50 atransferrinemia 10.8

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 liver/biliary system MP:0005370 9.02 APOE EPO GBA JAK2 SBDS

Drugs & Therapeutics for Splenomegaly

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

(show top 50) (show all 238)
# 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
Chlorambucil Approved Phase 4,Phase 3,Phase 2 305-03-3 2708
3
Ofatumumab Approved Phase 4,Phase 3,Phase 2,Phase 1 679818-59-8 6918251
4
Praziquantel Approved, Investigational, Vet_approved Phase 4 55268-74-1 4891
5
Zinc Approved, Investigational Phase 4 7440-66-6
6
Lactitol Investigational Phase 4 585-86-4 3871
7 Antineoplastic Agents, Alkylating Phase 4,Phase 3,Phase 2,Phase 1
8 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
9 Alkylating Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Antibodies, Monoclonal Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
12 Antibodies Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
13 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
14 Bendamustine Hydrochloride Phase 4,Phase 3,Phase 2,Phase 1
15 Antiparasitic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
16 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Anthelmintics Phase 4,Phase 3
18
Vincristine Approved, Investigational Phase 3,Phase 1,Phase 2 57-22-7, 2068-78-2 5978
19
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 6055-19-2, 50-18-0 2907
20
Fludarabine Approved Phase 3,Phase 2,Phase 1 75607-67-9, 21679-14-1 30751
21
Cladribine Approved, Investigational Phase 3,Phase 1 4291-63-8 20279
22
Dasatinib Approved, Investigational Phase 3,Phase 2,Phase 1 302962-49-8 3062316
23
Prednisolone Approved, Vet_approved Phase 3,Phase 2 50-24-8 5755
24
Methylprednisolone Approved, Vet_approved Phase 3,Phase 2 83-43-2 6741
25
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
26
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
27
Methylprednisolone hemisuccinate Approved Phase 3,Phase 2 2921-57-5
28
Prednisolone phosphate Approved, Vet_approved Phase 3,Phase 2 302-25-0
29
Lenalidomide Approved Phase 3,Phase 2,Phase 1 191732-72-6 216326
30
Paromomycin Approved, Investigational Phase 3 1263-89-4, 7542-37-2 165580
31
Miltefosine Approved, Investigational Phase 3 58066-85-6 3600
32
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
33
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
34
Peginterferon alfa-2b Approved Phase 3,Phase 2 99210-65-8, 215647-85-1
35
Idelalisib Approved Phase 3 870281-82-6
36
Aluminum hydroxide Approved, Investigational Phase 3 21645-51-2
37
Formaldehyde Approved, Vet_approved Phase 3 50-00-0 712
38
Obinutuzumab Approved, Investigational Phase 3,Phase 2,Phase 1 949142-50-1
39
Peginterferon alfa-2a Approved, Investigational Phase 3,Phase 2 198153-51-4 5360545
40
Hydroxyurea Approved Phase 3,Phase 2 127-07-1 3657
41
Aspirin Approved, Vet_approved Phase 3,Phase 2 50-78-2 2244
42
Vidarabine Approved, Investigational Phase 3,Phase 2,Phase 1 24356-66-9 32326 21704
43
leucovorin Approved Phase 3,Phase 1,Phase 2,Not Applicable 58-05-9 6006 143
44
Methotrexate Approved Phase 3,Phase 1,Phase 2 59-05-2, 1959-05-2 126941
45
Adenosine Approved, Investigational Phase 3,Phase 2,Phase 1 58-61-7 60961
46
Pentostatin Approved, Investigational Phase 3,Phase 2,Phase 1 53910-25-1 439693 40926
47
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 50-02-2 5743
48
Cytarabine Approved, Investigational Phase 3,Phase 1,Phase 2 147-94-4 6253
49
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 1177-87-3
50
Ponatinib Approved, Investigational Phase 3 943319-70-8 24826799

Interventional clinical trials:

(show top 50) (show all 253)
# 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 to Assess the Effect of Maintenance Treatment With Rituximab Versus No Treatment in Participants With Progressive B-Cell Chronic Lymphocytic Leukemia (CLL) Completed NCT00718549 Phase 3 Cladribine;Cyclophosphamide;Rituximab
11 A Study of MabThera (Rituximab) in Patients With Advanced Non-Hodgkin's Lymphoma Completed NCT00269113 Phase 3 rituximab [MabThera/Rituxan];Standard chemotherapy
12 Advanced Chronic Myelogenous Leukemia (CML) - Follow On: Study of BMS-354825 in Subjects With CML Completed NCT00123487 Phase 3 dasatinib;dasatinib
13 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]
14 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
15 Study Of The Effectiveness & Safety Of Lenalidomide Versus Chlorambucil As First Line Therapy For Elderly Patients With B-Cell CLL (The ORIGIN Trial) Completed NCT00910910 Phase 3 Lenalidomide;Chlorambucil
16 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
17 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)
18 Extension Study of Idelalisib for Patients With Chronic Lymphocytic Leukemia Who Participated in GS-US-312-0116 Completed NCT01539291 Phase 3 Idelalisib
19 Efficacy and Safety of Idelalisib (GS-1101; CAL-101) in Combination With Ofatumumab for Previously Treated Chronic Lymphocytic Leukemia Completed NCT01659021 Phase 3 Idelalisib;Ofatumumab
20 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
21 Ross River Virus (RRV) Vaccine Study Completed NCT01242670 Phase 3
22 Chronic Myelogenous Leukemia (CML) - Follow on: Study of BMS-354825 in Subjects With CML Completed NCT00123474 Phase 3 dasatinib;dasatinib;dasatinib;dasatinib
23 A Safety and Efficacy Study of Obinutuzumab Alone or in Combination With Chemotherapy in Participants With Chronic Lymphocytic Leukemia Completed NCT01905943 Phase 3 Bendamustine;Chlorambucil;Cyclophosphamide;Fludarabine;Obinutuzumab
24 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
25 Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea in Polycythemia Vera (PV) and Essential Thrombocythemia (ET) Completed NCT01259856 Phase 3 PEGASYS;Hydroxyurea;Aspirin
26 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
27 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
28 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
29 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
30 Ofatumumab vs Physician's Choice in Subjects With Bulky Fludarabine-Refractory Chronic Lymphocytic Leukemia Completed NCT01313689 Phase 3 Ofatumumab;Physicians' Choice
31 Compare Bosutinib To Imatinib In Subjects With Newly Diagnosed Chronic Phase Philadelphia Chromosome Positive CML Completed NCT00574873 Phase 3 Bosutinib;imatinib
32 Ofatumumab + Chlorambucil vs Chlorambucil Monotherapy in Previously Untreated Patients With Chronic Lymphocytic Leukemia Completed NCT00748189 Phase 3 chlorambucil, tablets;ofatumumab (GSK1841157) infusion
33 Ofatumumab Added to Fludarabine-Cyclophosphamide vs Fludarabine-Cyclophosphamide Combination in Relapsed Subjects With Chronic Lymphocytic Leukemia Completed NCT00824265 Phase 3 OFC Infusion;FC infusion
34 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]
35 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
36 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 Without Fever. Completed NCT00891046 Phase 3 Canakinumab
37 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
38 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]
39 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
40 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
41 An Efficacy Study Comparing Ponatinib Versus Imatinib, Administered in Combination With Reduced-Intensity Chemotherapy, in Participants With Newly Diagnosed Philadelphia Chromosome Positive Acute Lymphoblastic Leukemia (Ph+ ALL) Recruiting NCT03589326 Phase 3 Ponatinib;Imatinib;Vincristine;Dexamethasone;Cytarabine;Methotrexate;Prednisone
42 Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency Recruiting NCT03113760 Phase 3 Tadekinig alfa
43 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
44 A Study to Evaluate Efficacy and Safety of Anakinra in the Treatment of Still's Disease (SJIA and AOSD) Recruiting NCT03265132 Phase 3 Placebo
45 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
46 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
47 Moxetumomab Pasudotox for Advanced Hairy Cell Leukemia Active, not recruiting NCT01829711 Phase 3 Moxetumomab pasudotox;IV Bag Protectant for Moxetumomab pasudotox
48 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
49 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)
50 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

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, Bone, Bone Marrow, Myeloid, T Cells, B Cells

Publications for Splenomegaly

Articles related to Splenomegaly:

(show top 50) (show all 1079)
# 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
An unexpected diagnosis: leukaemic presentation of blastic plasmacytoid dendritic cell neoplasm with massive splenomegaly. ( 30274817 )
2018
23
Primary Splenic Diffuse Large B-Cell Lymphoma: A Rare Case of Massive Splenomegaly and Thrombocytopenia. ( 30254815 )
2018
24
Splenic Bed Laparoscopic Splenectomy Approach for Massive Splenomegaly Secondary to Portal Hypertension and Liver Cirrhosis. ( 29981644 )
2018
25
Massive splenomegaly: flow cytometry as a diagnostic tool for systemic mastocytosis. ( 30310794 )
2018
26
Low-dose splenic irradiation is an alternative therapy for symptomatic splenomegaly in patients with myelofibrosis. ( 30062500 )
2018
27
Ruxolitinib Rechallenge Can Improve Constitutional Symptoms and Splenomegaly in Patients With Myelofibrosis: A Case Series. ( 30115545 )
2018
28
Neutropaenia and splenomegaly without arthritis: think rheumatoid arthritis. ( 30002215 )
2018
29
Splenomegaly: A Combined Clinical and Radiologic Approach to the Differential Diagnosis. ( 30115442 )
2018
30
Spleen Tyrosine Kinase Inhibitor TAK-659 Prevents Splenomegaly and Tumor Development in a Murine Model of Epstein-Barr Virus-Associated Lymphoma. ( 30135222 )
2018
31
Spleen size evaluation in children: Time to define splenomegaly for pediatric surgeons and pediatricians. ( 30138410 )
2018
32
Laparoscopic versus open splenectomy for splenomegaly: the verdict is unclear. ( 30167946 )
2018
33
Protective effect of Korean red ginseng on oxaliplatin-mediated splenomegaly in colon cancer. ( 30182023 )
2018
34
Progressive splenomegaly and mild thrombocytosis in beta-thalassaemia trait and coexisting hereditary hemochromatosis: possible confounders for a subsequent hematological diagnosis. ( 30218421 )
2018
35
Robotic-Assisted Splenectomy for Massive Splenomegaly Secondary to Sarcoidosis. ( 30219136 )
2018
36
45-Year-Old Man With Abdominal Pain and Splenomegaly. ( 30269944 )
2018
37
High-fat, high-sugar diet induces splenomegaly that is ameliorated with exercise and genistein treatment. ( 30348225 )
2018
38
Splenomegaly Segmentation on Multi-modal MRI using Deep Convolutional Networks. ( 30442602 )
2018
39
Robotic-Assisted Splenectomy for Massive Splenomegaly Secondary to Sarcoidosis. ( 30454536 )
2018
40
Unresolved Splenomegaly in Recently Resettled Congolese Refugees - Multiple States, 2015-2018. ( 30543602 )
2018
41
Gastric hemorrhage due to splenomegaly following repair of a type A aortic dissection. ( 30548694 )
2018
42
Disseminated coccidioidomycosis with molluscum-like lesions, diffuse lymphadenopathy, and splenomegaly in an immunocompetent patient. ( 28769594 )
2017
43
The Best Single Measurement for Assessing Splenomegaly in Patients with Cirrhotic Liver Morphology. ( 28800952 )
2017
44
Steroid-Refractory Autoimmune Hemolytic Anemia with Massive Splenomegaly. ( 28389309 )
2017
45
Unusual case of splenomegaly and pancytopenia in a returned traveller. ( 29105271 )
2017
46
Turf wars: exploring splenomegaly in sickle cell disease in malaria-endemic regions. ( 28493472 )
2017
47
Patients with Fever of Unknown Origin and Splenomegaly: Diagnostic Value of Splenectomy and Preoperative Risk Factors Suggestive of Underlying Lymphomas. ( 28586777 )
2017
48
Hairy cell leukemia: a case report of atypical presentation without splenomegaly. ( 28698853 )
2017
49
Ruxolitinib for the treatment of inadequately controlled polycythaemia vera without splenomegaly (RESPONSE-2): a randomised, open-label, phase 3b study. ( 27916398 )
2017
50
Single port laparoscopic splenectomy for wandering spleen with splenomegaly in a patient with Wolf-Hirschhorn syndrome. ( 28281478 )
2017

Variations for Splenomegaly

ClinVar genetic disease variations for Splenomegaly:

6 (show all 14)
# 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 SLC37A4 NM_001164277.1(SLC37A4): c.81T> A (p.Asn27Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193302889 GRCh37 Chromosome 11, 118899999: 118899999
6 SLC37A4 NM_001164277.1(SLC37A4): c.81T> A (p.Asn27Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193302889 GRCh38 Chromosome 11, 119029289: 119029289
7 SBDS NM_016038.3(SBDS): c.184A> T (p.Lys62Ter) single nucleotide variant Pathogenic/Likely pathogenic rs120074160 GRCh37 Chromosome 7, 66459273: 66459273
8 SBDS NM_016038.3(SBDS): c.184A> T (p.Lys62Ter) single nucleotide variant Pathogenic/Likely pathogenic rs120074160 GRCh38 Chromosome 7, 66994286: 66994286
9 GATA2 NM_001145661.1(GATA2): c.971A> G (p.Lys324Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 128483906: 128483906
10 GATA2 NM_001145661.1(GATA2): c.971A> G (p.Lys324Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 128202749: 128202749
11 FAS NM_000043.5(FAS): c.536T> G (p.Leu179Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 89010783: 89010783
12 FAS NM_000043.5(FAS): c.536T> G (p.Leu179Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 90770540: 90770540
13 ADA2 NM_001282225.2(ADA2): c.144dup (p.Arg49Alafs) duplication Pathogenic rs756881285 GRCh37 Chromosome 22, 17690424: 17690424
14 ADA2 NM_001282225.2(ADA2): c.144dup (p.Arg49Alafs) duplication Pathogenic rs756881285 GRCh38 Chromosome 22, 17209534: 17209534

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 space GO:0005615 9.17 ADA2 APOE CHIT1 EPO GBA HBA2
2 endocytic vesicle lumen GO:0071682 8.96 APOE HBA2

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

# Name GO ID Score Top Affiliating Genes
1 erythrocyte differentiation GO:0030218 9.43 EPO JAK2
2 negative regulation of MAP kinase activity GO:0043407 9.4 APOE GBA
3 response to testosterone GO:0033574 9.37 EPO GBA
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.33 EPO IFNA2 JAK2
5 regulation of protein metabolic process GO:0051246 9.32 APOE GBA
6 response to dexamethasone GO:0071548 9.26 EPO GBA
7 negative regulation of cellular protein metabolic process GO:0032269 8.96 APOE GBA
8 negative regulation of neuron death GO:1901215 8.8 APOE EPO GBA

Sources for Splenomegaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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