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MCID: SPL018
MIFTS: 47

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 20 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 essential thrombocythemia. An important gene associated with Splenomegaly is SBDS (SBDS Ribosome Maturation Factor), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Pathways in cancer. The drugs Anagrelide and Hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include spleen, myeloid and bone marrow, and related phenotypes are cellular and hematopoietic system

Wikipedia : 73 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 661)
# Related Disease Score Top Affiliating Genes
1 gaucher's disease 31.8 JAK2 GBA CHIT1
2 essential thrombocythemia 31.3 MPL JAK2 IFNA2 IFNA1 EPO
3 leukemia, chronic myeloid 31.2 SETBP1 MPL JAK2 IFNA2 IFNA1 EPO
4 budd-chiari syndrome 31.2 MPL JAK2 INSL6
5 polycythemia vera 31.0 MPL JAK2 INSL6 IFNA2 IFNA1 EPO
6 myelofibrosis 31.0 SETBP1 MPL JAK2 INSL6 IFNA2 IFNA1
7 splenic sequestration 30.5 MPL EPO
8 thrombocytosis 30.5 MPL JAK2 EPO
9 refractory anemia 30.3 MPL JAK2 EPO
10 thalassemia 30.3 LOC106804612 HBA2 HBA1
11 systemic mastocytosis 30.2 JAK2 IFNA2 IFNA1
12 mastocytosis 30.2 JAK2 IFNA2 IFNA1
13 acute leukemia 30.2 SETBP1 MPL JAK2 EPO
14 portal vein thrombosis 30.2 MPL JAK2 IFNA1
15 hypereosinophilic syndrome 30.1 JAK2 IFNA2 IFNA1
16 polycythemia 30.0 MPL JAK2 INSL6 HBA2 EPO
17 hemoglobinopathy 29.9 HBA2 HBA1 EPO
18 niemann-pick disease 29.9 GBA CHIT1 ABCA1
19 lymphomatoid granulomatosis 29.8 IFNA2 IFNA1
20 acquired immunodeficiency syndrome 29.8 IFNA2 IFNA1 EPO APOE
21 acquired polycythemia 29.8 MPL JAK2 EPO
22 viral hepatitis 29.7 IFNA2 IFNA1 FAS
23 neutropenia 29.7 SLC37A4 SBDS MPL IFNA2 IFNA1 EPO
24 hemolytic anemia 29.7 IFNA2 IFNA1 HBA2 HBA1 FAS EPO
25 thrombocytopenia 29.7 SBDS MPL JAK2 IFNA2 IFNA1 GBA
26 myelodysplastic syndrome 29.7 SETBP1 SBDS MPL JAK2 FAS EPO
27 herpes zoster 29.6 IFNA2 IFNA1 APOE
28 hepatitis c 29.6 IFNA2 IFNA1 FAS APOE
29 blood coagulation disease 29.6 MPL JAK2 IFNA1 GBA EPO
30 myeloproliferative neoplasm 29.5 MPL JAK2 INSL6 IFNA2 IFNA1 EPO
31 beta-thalassemia 29.5 JAK2 HBA2 HBA1 EPO CHIT1
32 microcytic anemia 29.5 HBA2 HBA1 EPO
33 aplastic anemia 29.4 SBDS MPL IFNA1 FAS EPO
34 blood platelet disease 29.3 MPL JAK2 IFNA1 GBA EPO
35 hemoglobin h disease 29.2 LOC106804612 HBA2 HBA1 EPO
36 alpha-thalassemia 29.1 LOC106804612 HBA2 HBA1 EPO
37 leukemia, acute myeloid 29.0 SETBP1 SBDS MPL JAK2 INSL6 IFNA1
38 malaria 29.0 IFNA1 HBA2 HBA1 FAS EPO CHIT1
39 deficiency anemia 28.9 MPL LOC106804612 JAK2 IFNA2 IFNA1 HBA2
40 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome 11.5
41 felty syndrome 11.3
42 sea-blue histiocyte disease 11.3
43 banti's syndrome 11.3
44 myeloid splenomegaly 11.3
45 chronic congestive splenomegaly 11.2
46 zimmermann-laband syndrome 1 11.2
47 hypersplenism 11.2
48 hereditary spherocytosis 11.1
49 autoimmune lymphoproliferative syndrome 11.0
50 gray platelet syndrome 11.0

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 9.9 ABCA1 APOE EPO FAS GBA HBA2
2 hematopoietic system MP:0005397 9.7 ABCA1 ALPK1 APOE EPO FAS GBA
3 liver/biliary system MP:0005370 9.23 ABCA1 APOE EPO FAS GBA JAK2
Sources

Drugs & Therapeutics for Splenomegaly

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

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anagrelide Approved Phase 2 68475-42-3 2182
2
Hydroxyurea Approved Phase 2 127-07-1 3657
3
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4
Obinutuzumab Approved, Investigational Phase 2 949142-50-1
5
Lenalidomide Approved Phase 2 191732-72-6 216326
6
nivolumab Approved Phase 2 946414-94-4
7
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
8
Navitoclax Investigational Phase 2 923564-51-6
9 Adjuvants, Immunologic Phase 2
10 interferons Phase 2
11 Angiogenesis Inhibitors Phase 2
12 Immunologic Factors Phase 2
13 Antibodies, Monoclonal Phase 2
14 Janus Kinase Inhibitors Phase 2
15 Protein Kinase Inhibitors Phase 2
16 ON 01910 Phase 2
17 Antineoplastic Agents, Immunological Phase 2
18
Metformin Approved Phase 1 657-24-9 4091 14219
19
Ritonavir Approved, Investigational Phase 1 155213-67-5 392622
20 Cytochrome P-450 CYP3A Inhibitors Phase 1
21 Cytochrome P-450 Enzyme Inhibitors Phase 1
22 Anti-Retroviral Agents Phase 1
23
protease inhibitors Phase 1
24 Hypoglycemic Agents Phase 1
25 Antiviral Agents Phase 1
26 Anti-HIV Agents Phase 1
27 HIV Protease Inhibitors Phase 1
28
Somatostatin Approved, Investigational 38916-34-6, 51110-01-1 53481605
29
Fluoxymesterone Approved, Illicit 76-43-7 6446
30
carbamide peroxide Approved 124-43-6
31
Oxaliplatin Approved, Investigational 61825-94-3 5310940 9887054 43805 6857599
32
Imidacloprid Vet_approved 105827-78-9 86418
33 Adrenergic beta-Antagonists
34 Hemostatics
35
Bilirubin 635-65-4 5280352
36 Liver Extracts

Interventional clinical trials:

(show all 31)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 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
5 A Phase 2 Open-Label Study Evaluating Tolerability and Efficacy of Navitoclax Alone or in Combination With Ruxolitinib in Subjects With Myelofibrosis (REFINE) Recruiting NCT03222609 Phase 2 Ruxolitinib;Navitoclax
6 Randomised Multi-arm Trial of Ruxolitinib (RUX) and Fostamatinib (FOS) for COVID-19 Pneumonia Recruiting NCT04581954 Phase 1, Phase 2 Ruxolitinib;Fostamatinib
7 Ruxolitinib Versus Best Available Therapy in Patients With High-risk Polycythemia Vera or High-risk Essential Thrombocythemia - The Ruxo-BEAT Trial Active, not recruiting NCT02577926 Phase 2 Ruxolitinib;BAT
8 A Phase II Study of Obinutuzumab and Lenalidomide in Previously Untreated Subjects With Follicular Lymphoma Active, not recruiting NCT02871219 Phase 2 Lenalidomide
9 Phase 2 Study of Ruxolitinib in Idiopathic Hypereosinophilic Syndrome and Primary Eosinophilic Disorders Not yet recruiting NCT03801434 Phase 2 Ruxolitinib
10 A Phase II Single-Arm Study of the Efficacy and Safety of Oral Rigosertib in Patients With Myelofibrosis (MF) and Anemia Terminated NCT02730884 Phase 2 Rigosertib
11 Phase 2 Study of Nivolumab in Patients With Primary Myelofibrosis, Post-Essential Thrombocythemia Myelofibrosis, or Post-Polycythemia Vera Myelofibrosis Terminated NCT02421354 Phase 2
12 A Pilot Feasibility Study of Metformin/Ritonavir Combination Treatment in Patients With Relapsed/Refractory Multiple Myeloma or Chronic Lymphocytic Leukemia Completed NCT02948283 Phase 1 Metformin Hydrochloride;Ritonavir
13 The Treatment of Gastroesophageal Varices Accompanied With Splenomegaly or Hypersplenism of Hepatocirrhosis and Portal Hypertension Unknown status NCT02778425
14 Multicentric Retrospective Case Control Study of the Impact of Hypersplenism and Splenectomy on Hepatocarcinogenesis in Patients With Posthepatitic Cirrhosis Unknown status NCT01201655
15 Estimation of Spleen Size by Medical Residents With Hand Carried Ultrasound Completed NCT01907932
16 Estimation of Spleen Size With Hand Held Ultrasound Completed NCT01810419
17 Prospective Randomized Study Between Open and Hand Assisted Splenectomies Completed NCT00754806
18 Use of a Pocket-sized Ultrasound Device as an Aid to the Physical Examination for Internal Medicine Residents Completed NCT01948076
19 HEMOCC Study Hemostasis in Cirrhotic Children : Assessment of Risk Factors of Spontaneous Bleeding From Oesophageal Varices in Cirrhotic Children Waiting for a Graft. Completed NCT03244332
20 Spleen Size in Peripheral Blood Stem Cell Donors Completed NCT00006148
21 Compare the Effects of Volume-oriented Versus Flow-oriented Incentive Spirometry on Pulmonary Function and Functional Capacity in Patients of Upper Abdominal Laparoscopic Surgery Recruiting NCT04716166
22 The SMS Study, a National Study on Prevalence of Unexplained Splenomegaly Etiologies Active, not recruiting NCT04430881
23 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02298647
24 Biomarker for Gaucher Disease an International, Multicenter, Epidemiological Protocol Active, not recruiting NCT01331642
25 Biomarker for Farber Disease - An International, Multicenter, Epidemiological Protocol Active, not recruiting NCT02298634
26 Biomarker for Sly Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02298699
27 Biomarker for Pompe Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGI-CAL PROTOCOL Active, not recruiting NCT01457443
28 Construction and Evaluation of the Early Identification and Individualized Treatment for Oxaliplatin-induced Portal Hypertension Not yet recruiting NCT04524676
29 Construction and Evaluation of the Early Identification for Oxaliplatin Induced Portal Hypertension Not yet recruiting NCT04524650
30 An Open-label Expanded Access Trial of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients With Gaucher Disease Who Require Enzyme Replacement Therapy No longer available NCT00962260 Plant cell expressed recombinant glucocerebrosidase (prGCD)
31 The Use of Point-of-Care Ultrasound in the Diagnosis of Acute Infectious Mononucleosis in the Emergency Department Terminated NCT02463669

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:

40
Spleen, Myeloid, Bone Marrow, T Cells, Liver, B Cells, Lymph Node
Sources

Publications for Splenomegaly

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Articles related to Splenomegaly:

(show top 50) (show all 14312)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
2
Prolidase deficiency: it looks like systemic lupus erythematosus but it is not. 61 54
19937054 2010
3
Conditional expression of heterozygous or homozygous Jak2V617F from its endogenous promoter induces a polycythemia vera-like disease. 54 61
20197548 2010
4
Mobilization of hematopoietic stem cells in a thalassemic mouse model: implications for human gene therapy of thalassemia. 54 61
19795976 2010
5
Transferrin therapy ameliorates disease in beta-thalassemic mice. 61 54
20098432 2010
6
Potential conditions causing impairment of selective hepatobiliary enhancement of gadobenate dimeglumine-enhanced delayed magnetic resonance imaging. 61 54
20118733 2010
7
[Voluminous nodular splenomegaly in Gaucher disease: a case report]. 61 54
19375198 2009
8
Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation. 54 61
19592052 2009
9
Emerging drugs for the therapy of primary and post essential thrombocythemia, post polycythemia vera myelofibrosis. 61 54
19552608 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. 61 54
19325510 2009
11
How I treat symptomatic splenomegaly in patients with myelofibrosis. 54 61
19332765 2009
12
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
13
Novel strategies for patients with chronic myeloproliferative disorders. 54 61
19468275 2009
14
Interferon-alpha therapy in bcr-abl-negative myeloproliferative neoplasms. 61 54
18843285 2008
15
A case of adult onset Still's disease showing marked accumulation in the liver and spleen, on positron emission tomography-CT images. 54 61
18443796 2008
16
Hepatic involvement and portal hypertension predict mortality in chronic granulomatous disease. 61 54
18439425 2008
17
Prevalence of the JAK2-V617F mutation in Taiwanese patients with chronic myeloproliferative disorders. 61 54
18336541 2008
18
Differences in bone responses to recombinant human granulocyte colony-stimulating factor between mice and rats. 61 54
18544917 2008
19
Transgenic expression of JAK2V617F causes myeloproliferative disorders in mice. 61 54
18334677 2008
20
Clinical and laboratory evaluation of 101 patients with intrahepatic neonatal cholestasis. 61 54
18622471 2008
21
Neutrophil-selective CD18 silencing using RNA interference in vivo. 61 54
18216298 2008
22
Acute thrombocytopenia after liver transplant: role of platelet activation, thrombopoietin deficiency and response to high dose intravenous IgG treatment. 54 61
17716776 2007
23
Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. 61 54
17999750 2007
24
PET positive generalized lymphadenopathy and splenomegaly following interferon-alfa-2b adjuvant therapy for melanoma. 61 54
17885361 2007
25
Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency. 61 54
17570078 2007
26
[Elevated Hemoglobin--polyglobulia or polycythemia?]. 61 54
17668775 2007
27
Thrombocytopenia in association with splenomegaly during granulocyte-colony-stimulating factor treatment in mice is not caused by hypersplenism and is resolved spontaneously. 54 61
17207228 2007
28
Schistosomiasis mansoni: novel chemotherapy using a cysteine protease inhibitor. 61 54
17214506 2007
29
Recombinant human erythropoietin for the treatment of anaemia in patients with chronic idiopathic myelofibrosis. 61 54
17159338 2007
30
Ulcus cruris associated with prolidase deficiency. 61 54
17459310 2006
31
Molecular pathogenesis and therapy of polycythemia induced in mice by JAK2 V617F. 54 61
17183644 2006
32
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C. 61 54
16972172 2006
33
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
34
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. 54 61
16834459 2006
35
Haptoglobin levels are associated with haptoglobin genotype and alpha+ -Thalassemia in a malaria-endemic area. 61 54
16760505 2006
36
Clinical presentation of chronic hepatitis C in patients with end-stage renal disease and on hemodialysis versus those with normal renal function. 61 54
16128946 2005
37
Relevance of the criteria commonly used to diagnose myeloproliferative disorder in patients with splanchnic vein thrombosis. 54 61
15877740 2005
38
Polyclonal proliferation of plasma cells associated with marked hypergammaglobulinemia in an elderly patient. 54 61
15717691 2005
39
Hemophagocytosis exacerbated by G-CSF/GM-CSF treatment in a patient with myelodysplasia. 54 61
15551287 2004
40
TNF receptor-associated factor (TRAF) domain and Bcl-2 cooperate to induce small B cell lymphoma/chronic lymphocytic leukemia in transgenic mice. 54 61
15545599 2004
41
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. 61 54
15198956 2004
42
Screening for functional sequence variations and mutations in ABCA1. 54 61
15262183 2004
43
Polycythemia vera and idiopathic erythrocytosis: comparison of clinical and laboratory parameters. 61 54
15270182 2004
44
Urothelial cancer producing granulocyte colony-stimulating factor: possible induction of splenomegaly. 54 61
14972497 2004
45
High levels of osteopontin associated with polymorphisms in its gene are a risk factor for development of autoimmunity/lymphoproliferation. 54 61
14592838 2004
46
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
47
Myelofibrosis with myeloid metaplasia. 54 61
14560783 2003
48
Refractory chronic GVHD emerging after splenectomy in a marrow transplant recipient with accelerated phase CML. 61 54
12858207 2003
49
Modern treatment strategies in polycythemia vera. 54 61
12682879 2003
50
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1. 54 61
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 Position
1 ADA2 NM_001282225.2(ADA2):c.144dup (p.Arg49fs) Duplication Pathogenic 586963 rs756881285 GRCh37: 22:17690423-17690424
GRCh38: 22:17209533-17209534
2 HBA1 , LOC106804612 , HBA2 NM_000517.6(HBA2):c.410T>C (p.Leu137Pro) SNV Pathogenic 15655 rs41469945 GRCh37: 16:223580-223580
GRCh38: 16:173581-173581
3 SBDS NM_016038.4(SBDS):c.258+2T>C SNV Pathogenic 3196 rs113993993 GRCh37: 7:66459197-66459197
GRCh38: 7:66994210-66994210
4 SBDS NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) SNV Likely pathogenic 449095 rs120074160 GRCh37: 7:66459273-66459273
GRCh38: 7:66994286-66994286
5 FAS NM_000043.6(FAS):c.536T>G (p.Leu179Arg) SNV Likely pathogenic 523313 rs1554851718 GRCh37: 10:90770540-90770540
GRCh38: 10:89010783-89010783
6 SLC37A4 NM_001164278.2(SLC37A4):c.81T>A (p.Asn27Lys) SNV Likely pathogenic 68290 rs193302889 GRCh37: 11:118899999-118899999
GRCh38: 11:119029289-119029289
7 overlap with 171 genes Deletion Likely pathogenic 812956 GRCh37: 11:114433313-131230466
GRCh38:
8 JAK2 , INSL6 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) SNV Likely pathogenic 14662 rs77375493 GRCh37: 9:5073770-5073770
GRCh38: 9:5073770-5073770
9 GATA2 NM_001145661.2(GATA2):c.971A>G (p.Lys324Arg) SNV Uncertain significance 523417 rs1480450110 GRCh37: 3:128202749-128202749
GRCh38: 3:128483906-128483906
10 VPS16 NM_022575.4(VPS16):c.540G>T (p.Trp180Cys) SNV Uncertain significance 932238 GRCh37: 20:2841419-2841419
GRCh38: 20:2860773-2860773
Sources

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
 12.69 JAK2 IFNA2 IFNA1 FAS EPO
2
Pathways in cancer 36
12.38 JAK2 IFNA2 IFNA1 FAS EPO
3
NF-kappaB Signaling 4
12.25 MPL JAK2 IFNA1 FAS
4
Necroptosis 36
Show member pathways
 11.69 JAK2 IFNA2 IFNA1 FAS
5
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.64 MPL IFNA2 EPO
6
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 11.56 HBA2 HBA1 APOE
7
Interferon Pathway 63
11.46 JAK2 IFNA2 IFNA1
8
JAK-STAT signaling pathway 36
Show member pathways
 11.42 MPL JAK2 IFNA2 IFNA1 EPO
9
African trypanosomiasis 36
10.7 HBA2 HBA1 FAS
Sources

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 space GO:0005615 9.81 IFNA2 IFNA1 HBA2 HBA1 GBA EPO
2 extracellular region GO:0005576 9.65 INSL6 IFNA2 IFNA1 HBA2 HBA1 FAS
3 hemoglobin complex GO:0005833 9.32 HBA2 HBA1
4 haptoglobin-hemoglobin complex GO:0031838 9.26 HBA2 HBA1
5 endocytic vesicle lumen GO:0071682 8.8 HBA2 HBA1 APOE

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.84 MPL JAK2 IFNA2 IFNA1
2 cholesterol metabolic process GO:0008203 9.72 GBA APOE ABCA1
3 cholesterol homeostasis GO:0042632 9.7 SLC37A4 APOE ABCA1
4 cellular oxidant detoxification GO:0098869 9.63 HBA2 HBA1 APOE
5 response to nutrient GO:0007584 9.61 SLC37A4 EPO ABCA1
6 natural killer cell activation involved in immune response GO:0002323 9.58 IFNA2 IFNA1
7 reverse cholesterol transport GO:0043691 9.57 APOE ABCA1
8 oxygen transport GO:0015671 9.56 HBA2 HBA1
9 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.54 JAK2 IFNA2 EPO
10 high-density lipoprotein particle assembly GO:0034380 9.51 APOE ABCA1
11 phospholipid efflux GO:0033700 9.49 APOE ABCA1
12 regulation of protein metabolic process GO:0051246 9.48 GBA APOE
13 response to dexamethasone GO:0071548 9.4 GBA EPO
14 regulation of Cdc42 protein signal transduction GO:0032489 9.32 APOE ABCA1
15 neutrophil homeostasis GO:0001780 9.26 SLC37A4 MPL
16 lipoprotein biosynthetic process GO:0042158 9.16 APOE ABCA1
17 negative regulation of cellular protein metabolic process GO:0032269 8.96 GBA APOE
18 steroid metabolic process GO:0008202 8.92 SLC37A4 GBA APOE ABCA1

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

# Name GO ID Score Top Affiliating Genes
1 type I interferon receptor binding GO:0005132 9.26 IFNA2 IFNA1
2 oxygen carrier activity GO:0005344 9.16 HBA2 HBA1
3 organic acid binding GO:0043177 8.96 HBA2 HBA1
4 haptoglobin binding GO:0031720 8.62 HBA2 HBA1
Sources

Sources for Splenomegaly

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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