Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MYELOF
MCID: MYL005
MIFTS: 70

Myelofibrosis (MYELOF)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Myelofibrosis

About this section

MalaCards integrated aliases for Myelofibrosis:

Name: Myelofibrosis 56 12 74 52 73 36 29 54 6 15 37 39 71
Primary Myelofibrosis 12 52 25 58 54 43 17 71
Agnogenic Myeloid Metaplasia 12 52 25 58 73 54
Myelofibrosis with Myeloid Metaplasia 25 58 73 29 6
Idiopathic Myelofibrosis 52 25 58 73 54
Myeloid Metaplasia 52 25 54 71
Osteomyelofibrosis 58 71 32
Myelofibrosis with Myeloid Metaplasia, Somatic 56 13
Megakaryocytic Myelosclerosis 12 71
Myelosclerosis 12 73
Agnogenic Myeloid Metaplasia with Myelofibrosis 73
Myelosclerosis with Myeloid Metaplasia 73
Chronic Idiopathic Myelofibrosis 25
Myelofibrosis, Somatic 56
Bone Marrow Fibrosis 12
Aleukemic Myelosis 12
Myelof 73
Ammm 73
Mmm 73

Characteristics:

Orphanet epidemiological data:

58
primary myelofibrosis
Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

OMIM:

56
Inheritance:
somatic mutation

Miscellaneous:
onset first weeks of life


HPO:

31
myelofibrosis:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare haematological diseases


Sources

Summaries for Myelofibrosis

About this section
Genetics Home Reference : 25 Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis. Initially, most people with primary myelofibrosis have no signs or symptoms. Eventually, fibrosis can lead to a reduction in the number of red blood cells, white blood cells, and platelets. A shortage of red blood cells (anemia) often causes extreme tiredness (fatigue) or shortness of breath. A loss of white blood cells can lead to an increased number of infections, and a reduction of platelets can cause easy bleeding or bruising. Because blood cell formation (hematopoiesis) in the bone marrow is disrupted, other organs such as the spleen or liver may begin to produce blood cells. This process, called extramedullary hematopoiesis, often leads to an enlarged spleen (splenomegaly) or an enlarged liver (hepatomegaly). People with splenomegaly may feel pain or fullness in the abdomen, especially below the ribs on the left side. Other common signs and symptoms of primary myelofibrosis include fever, night sweats, and bone pain. Primary myelofibrosis is most commonly diagnosed in people aged 50 to 80 but can occur at any age.

MalaCards based summary : Myelofibrosis, also known as primary myelofibrosis, is related to gray platelet syndrome and myeloproliferative neoplasm. An important gene associated with Myelofibrosis is MPL (MPL Proto-Oncogene, Thrombopoietin Receptor), and among its related pathways/superpathways are JAK-STAT signaling pathway and TGF-Beta Pathway. The drugs Parathyroid hormone and Panobinostat have been mentioned in the context of this disorder. Affiliated tissues include bone, myeloid and bone marrow, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.

NIH Rare Diseases : 52 Myelofibrosis is a disorder of the spongy tissue inside the bone (bone marrow) that contains the stem cells that will form blood cells . In myelofibrosis, the bone marrow is replaced by fibrous (scar) tissue. When the bone marrow is scarred, it cannot make enough blood cells. This leads to anemia , weakness, fatigue, and often, swelling of the liver and spleen. The disorder occurs when blood stem cells develop somatic mutations in the JAK2 , MPL , CALR , and TET2 genes . Other genes may also be involved. The disorder is generally not inherited because this type of mutation does not affect the reproductive cells (sperm and egg) only certain cells of the body (somatic). Although myelofibrosis can occur at any age, it typically develops after the age of 50 years. In most cases, myelofibrosis gets progressively worse. Treatment is aimed at relieving signs and symptoms and may include medications, blood transfusions, chemotherapy , radiation therapy , and surgery. Bone marrow or stem cell transplant may improve symptoms, and may cure the disease.

KEGG : 36 Myelofibrosis (MF), one of the three classic Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs), is characterized by symptoms mainly derived from anemia and splenomegaly and constitutional symptoms and associated with a median survival around 6 years. Most MPN patients harbor an acquired mutation in the hemopoietic cells, the V617F mutation, located in the pseudokinase domain of the JAK2 gene. This mutation results in a gain of function, i.e., in the constitutive activation of the JAK-STAT pathway, which plays an important role in the proliferation, differentiation, and survival of the hemopoietic cells, as well as in the immune function. Besides, a minority of patients with MF (most of them negative for the JAK2 mutation) harbor other JAK-STAT-activating mutation, the MPL mutation, in the gene of the receptor of the thrombopoietin. Recently, mutations in the CALR gene have been described in 86% of cases with primary MF that are negative for JAK2 or MPL mutations. CALR mutation also showed cytokine independent growth of cells due to activation of STAT5 involved with the JAK-STAT pathway but its exact role in MPN remains to be clarified.

UniProtKB/Swiss-Prot : 73 Myelofibrosis: A disorder characterized by replacement of the bone marrow by fibrous tissue, occurring in association with a myeloproliferative disorder. Clinical manifestations may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.
Myelofibrosis with myeloid metaplasia: A chronic myeloproliferative disorder characterized by replacement of the bone marrow by fibrous tissue, extramedullary hematopoiesis, anemia, leukoerythroblastosis and hepatosplenomegaly.

Wikipedia : 74 Primary myelofibrosis is a relatively rare bone marrow / blood cancer. It is currently classified as a... more...

More information from OMIM: 254450
Sources

Related Diseases for Myelofibrosis

About this section

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

(show top 50) (show all 620)
# Related Disease Score Top Affiliating Genes
1 gray platelet syndrome 33.8 THPO MPIG6B GATA1
2 myeloproliferative neoplasm 33.5 THPO TET2 SH2B3 MPL KIT JAK2
3 polycythemia vera 33.5 THPO TET2 MPL KIT JAK2 HMGA2
4 megakaryocytic leukemia 33.1 THPO JAK2 GATA1
5 essential thrombocythemia 32.9 THPO TET2 SRC SH2B3 MPL MIR223
6 splenomegaly 32.7 MPL JAK2 EPO
7 polycythemia 32.5 THPO TET2 SH2B3 MPL JAK2 EPO
8 pancytopenia 32.2 THPO MPL MPIG6B KIT EPO
9 thrombocytosis 32.2 THPO TET2 SH2B3 MPL JAK2 EPO
10 thrombocytopenia 32.2 THPO SRC MPL MPIG6B JAK2 GATA1
11 leukemia 31.9 THPO TET2 MPL KIT JAK2 CDKN2B-AS1
12 acute leukemia 31.9 THPO MPL KIT JAK2 GATA1 EPO
13 deficiency anemia 31.8 THPO KIT JAK2 GATA1 EPO BMP6
14 neutropenia 31.8 THPO MPL GATA1 EPO CD177
15 myelodysplastic syndrome 31.8 THPO TET2 SH2B3 MPL MEG3 KIT
16 chronic myelomonocytic leukemia 31.5 TET2 MPL KIT JAK2 CALR
17 myeloma, multiple 31.5 SRC MEG3 KIT JAK2 FGF2 EPO
18 refractory anemia 31.5 TET2 MPL EPO
19 mastocytosis 31.4 TET2 KIT JAK2
20 systemic mastocytosis 31.4 TET2 KIT JAK2
21 aplastic anemia 31.3 THPO TET2 MPL GATA1 FGF2 EPO
22 hemoglobinuria 31.3 THPO MPL EPO
23 budd-chiari syndrome 31.1 MPL JAK2 CALR
24 acquired polycythemia 31.0 MPL JAK2 EPO
25 leukemia, chronic myeloid 31.0 THPO SRC MPL MIR223 MEG3 KIT
26 portal vein thrombosis 31.0 MPL JAK2 CALR
27 hypersplenism 31.0 THPO EPO BMP6
28 leukemia, acute myeloid 30.9 WT1-AS THPO TET2 SRC MPL MIR223
29 myelophthisic anemia 30.9 SH2B3 MPL JAK2 EPO CALR
30 chronic neutrophilic leukemia 30.9 TET2 JAK2 CALR
31 blood platelet disease 30.8 THPO MPL KIT JAK2 EPO
32 chronic eosinophilic leukemia 30.8 TET2 KIT JAK2
33 leukemia, acute lymphoblastic 30.7 THPO MPL MIR223 KIT JAK2 GATA1
34 thrombocythemia 1 30.7 THPO SH2B3 MPL CALR
35 splenic sequestration 30.6 THPO MPL EPO
36 leukemia, chronic lymphocytic 30.6 THPO TET2 SRC MIR223 KIT JAK2
37 erythrocytosis, familial, 1 30.6 SH2B3 JAK2 EPO
38 erythroleukemia, familial 30.6 GATA1 EPO
39 myelodysplastic/myeloproliferative neoplasm 30.6 TET2 KIT JAK2
40 chronic leukemia 30.6 TET2 KIT JAK2
41 diamond-blackfan anemia 30.6 THPO MPL JAK2 GATA1 EPO
42 hematologic cancer 30.4 THPO MPL MIR223 MIR146B KIT JAK2
43 glioma 30.3 MIR146B MEG3 FGF2 CDKN2B-AS1
44 acute promyelocytic leukemia 30.2 THPO SRC MIR223 GATA1 CALR
45 diabetes mellitus 29.5 SH2B3 MIR223 MEG3 FGF2 EPO CDKN2B-AS1
46 ovarian cancer 29.3 SRC MIR223 MIR146B MEG3 KIT JAK2
47 acute panmyelosis with myelofibrosis 12.8
48 thrombocytopenia, anemia, and myelofibrosis 12.6
49 cellular phase chronic idiopathic myelofibrosis 12.3
50 thrombocytopenia 6 12.1

Graphical network of the top 20 diseases related to Myelofibrosis:



Diseases related to Myelofibrosis
Sources

Symptoms & Phenotypes for Myelofibrosis

About this section

Human phenotypes related to Myelofibrosis:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
2 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
3 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
4 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
5 pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000980
6 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
7 hepatosplenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001433
8 abnormal megakaryocyte morphology 58 31 frequent (33%) Frequent (79-30%) HP:0012143
9 portal hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001409
10 venous thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004936
11 easy fatigability 58 31 occasional (7.5%) Occasional (29-5%) HP:0003388
12 anorexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002039
13 petechiae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000967
14 arterial thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004420
15 lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002716
16 pancytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001876
17 leukocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001974
18 low-grade fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0011134
19 thrombocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001894
20 extramedullary hematopoiesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001978
21 poikilocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004447
22 ecchymosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0031364
23 bone marrow hypercellularity 58 31 occasional (7.5%) Occasional (29-5%) HP:0031020
24 flank pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0030157
25 cachexia 58 31 very rare (1%) Very rare (<4-1%) HP:0004326
26 hemangioma 58 31 very rare (1%) Very rare (<4-1%) HP:0001028
27 hematological neoplasm 58 31 very rare (1%) Very rare (<4-1%) HP:0004377
28 increased lactate dehydrogenase level 31 very rare (1%) HP:0025435
29 fever 58 31 Occasional (29-5%) HP:0001945
30 purpura 58 31 Occasional (29-5%) HP:0000979
31 abnormal bleeding 58 Occasional (29-5%)
32 abnormality of bone marrow cell morphology 58 Very frequent (99-80%)
33 abnormality of blood and blood-forming tissues 58 Frequent (79-30%)
34 myelofibrosis 31 HP:0011974
35 myeloproliferative disorder 31 HP:0005547
36 autoimmune antibody positivity 58 Excluded (0%)
37 abnormal thrombosis 58 Occasional (29-5%)
38 increased lactate dehydrogenase activity 58 Very rare (<4-1%)
39 constitutional symptom 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Hematology:
myeloproliferative disease
reduced hemopoiesis
generalized bone marrow fibrosis
no hemophagocytosis

Clinical features from OMIM:

254450

MGI Mouse Phenotypes related to Myelofibrosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.9 CALR EPO FGF2 GATA1 JAK2 KIT
2 hematopoietic system MP:0005397 9.73 CD177 EPO FGF2 GATA1 JAK2 KIT
3 immune system MP:0005387 9.36 CD177 EPO GATA1 JAK2 KIT MPIG6B
Sources

Drugs & Therapeutics for Myelofibrosis

About this section

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

(show top 50) (show all 321)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
2
Panobinostat Approved, Investigational Phase 4 404950-80-7 6918837
3
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
4
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
5
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
6 Trace Elements Phase 4
7 Micronutrients Phase 4
8 Vitamins Phase 4
9 Nutrients Phase 4
10 Mitogens Phase 4
11 Calcium, Dietary Phase 4
12 Endothelial Growth Factors Phase 4
13 Calciferol Phase 4
14 Angiogenesis Inducing Agents Phase 4
15 Histone Deacetylase Inhibitors Phase 4
16 Tin Fluorides Phase 4
17
Calcium Nutraceutical Phase 4 7440-70-2 271
18
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
19
Dalteparin Approved Phase 3 9005-49-6
20
Tinzaparin Approved Phase 3 9041-08-1, 9005-49-6 25244225
21
Captopril Approved Phase 3 62571-86-2 44093
22
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
23
Itraconazole Approved, Investigational Phase 3 84625-61-6 55283
24
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
25
Ribavirin Approved Phase 3 36791-04-5 37542
26
Palivizumab Approved, Investigational Phase 3 188039-54-5
27
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 38904 498142
28
Acyclovir Approved Phase 3 59277-89-3 2022
29
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
30
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
31
Caspofungin Approved Phase 3 162808-62-0, 179463-17-3 2826718 468682
32
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
33
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
34
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
35
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
36
Mercaptopurine Approved Phase 3 50-44-2 667490
37
Danazol Approved Phase 3 17230-88-5 28417
38
Hydroxyurea Approved Phase 3 127-07-1 3657
39
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
40
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
41
Moxifloxacin Approved, Investigational Phase 3 354812-41-2, 151096-09-2 152946
42
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
43
Polyestradiol phosphate Approved Phase 3 28014-46-2
44
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
45
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
46
Tyrosine Approved, Investigational, Nutraceutical Phase 2, Phase 3 60-18-4 6057
47 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
48 Anesthetics, Dissociative Phase 3
49 Neurotransmitter Agents Phase 3
50 Analgesics, Opioid Phase 3

Interventional clinical trials:

(show top 50) (show all 494)
# 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 The Study of Efficacy and Safety of Calcium Sensing Receptor in Chronic Dialysis Patients Completed NCT02056730 Phase 4 calcium sensing receptor agonist
3 The Effects of Vitamin D Supplementation on Transforming Growth Factor-beta1 and Vascular Endothelial Growth Factor in Vitamin D-Deficient Women With Polycystic Ovary Syndrome: A Randomized Placebo-Controlled Trial Completed NCT02460380 Phase 4 Vitamin D3
4 Open Label, Multi-center, Phase IV Study of Ruxolitinib or Ruxolitinib and Panobinostat Combination, for Patients Who Have Completed Prior Global Novartis or Incyte Sponsored Studies Recruiting NCT02386800 Phase 4 ruxolitinib tablets or oral pediatric formulation, panobinostat capsules;ruxolitinib tablets or oral pediatric formulation
5 Rate of Prolonged Response After Stopping Thrombopoietin-receptor Agonists Treatment in Immune Thrombocytopenia: a Prospective Multicenter Open Study Recruiting NCT03119974 Phase 4 Tpo-RA discontinuation
6 A Randomized Double-Blind Controlled Trial of Ketamine Versus Placebo in Conjunction With Best Pain Management in Neuropathic Pain in Cancer Patients Unknown status NCT01316744 Phase 3 ketamine hydrochloride
7 A Multicenter, Open-label Clinical Study of the JAK Inhibitor Ruxolitinib (INC424) in Patients With Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis, or Post-essential Thrombocythemia Myelofibrosis Completed NCT02087059 Phase 3 Ruxolitinib
8 An Open-label, Multicenter, Expanded Access Study of INC424 for Patients With Primary Myelofibrosis (PMF) or Post Polycythemia Myelofibrosis (PPV MF) or Post-essential Thrombocythemia Myelofibrosis (PET-MF). Completed NCT01493414 Phase 3 INC424
9 A Phase III Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Effects of Fragmin (5,000 IU Subcutaneously) in Preventing Catheter-Related Complications When Given Daily to Cancer Patients With Central Venous Catheters Completed NCT00006083 Phase 3 Fragmin
10 Phase III Study of Captopril in Patients Undergoing Autologous Bone Marrow/Stem Cell Transplantation Completed NCT00004230 Phase 3 captopril;cyclophosphamide
11 A Randomized, Comparative Study of Itraconazole Versus Fluconazole for Prevention of Aspergillus Infections in Peripheral Blood Stem Cell and Marrow Transplant Recipients Completed NCT00003883 Phase 3 fluconazole;itraconazole
12 A Phase III Double-Blind Equivalence Study of Two Different Formulations of Slow-Release Morphine Followed by a Randomization Between Dextromethorphan or Placebo Plus Statex SR for Chronic Cancer Pain Relief in Terminally Ill Patients Completed NCT00003687 Phase 3 dextromethorphan hydrobromide;morphine sulfate
13 A Randomized Double-Blind Placebo-Controlled Phase III Study To Evaluate The Safety And Efficacy Of Palivizumab Combined With Aerosolized Ribavirin Compared To Ribavirin Alone To Treat RSV Pneumonia In Patients With Bone Marrow Transplants (BMT) Completed NCT00014391 Phase 3 ribavirin
14 A Phase III Multicenter Study of Cytomegalovirus Prophylaxis With Valacyclovir for the Prevention of Serious Fungal and Bacterial Infections Among Cytomegalovirus Seronegative Recipients of Cytomegalovirus Seropositive Sx Stem Cell Transplants Completed NCT00045292 Phase 3 acyclovir;acyclovir sodium;valacyclovir
15 A Randomized Study of Ruxolitinib Tablets Compared to Best Available Therapy in Subjects With Primary Myelofibrosis, Post-Polycythemia Vera-Myelofibrosis or Post-Essential Thrombocythemia Myelofibrosis Completed NCT00934544 Phase 3 Ruxolitinib;Best Available Therapy (BAT)
16 A Phase 3, Randomized Study To Evaluate the Efficacy of Momelotinib Versus Best Available Therapy in Anemic or Thrombocytopenic Subjects With Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis, or Post-essential Thrombocythemia Myelofibrosis Who Were Treated With Ruxolitinib Completed NCT02101268 Phase 3 Momelotinib;Best Available Therapy (BAT)
17 A Phase 3, Randomized, Double-blind Active-controlled Study Evaluating Momelotinib vs. Ruxolitinib in Subjects With Primary Myelofibrosis (PMF) or Post-Polycythemia Vera or Post-Essential Thrombocythemia Myelofibrosis (Post-PV/ET MF) Completed NCT01969838 Phase 3 Momelotinib;Ruxolitinib;Placebo to match momelotinib;Placebo to match ruxolitinib
18 A Randomized, Double-blind, Placebo-controlled Study of the JAK Inhibitor INCB018424 Tablets Administered Orally to Subjects With Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis or Post-Essential Thrombocythemia Myelofibrosis Completed NCT00952289 Phase 3 Ruxolitinib;Placebo
19 A Phase-3, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Compare Efficacy and Safety of Pomalidomide in Subjects With Myeloproliferative Neoplasm-Associated Myelofibrosis and Red Blood Cell-Transfusion-Dependence Completed NCT01178281 Phase 3 Pomalidomide 0.5 mg;Placebo;Pomalidomide
20 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
21 A Study to Provide Expanded Access of (Exjade®) Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload From Blood Transfusions Who Cannot Adequately be Treated With Other Locally Approved Iron Chelators Completed NCT00235391 Phase 3 Deferasirox
22 A Randomized Multicentre Study Comparing G-CSF Mobilized Peripheral Blood and G-CSF Stimulated Bone Marrow in Patients Undergoing Matched Sibling Transplantation for Hematologic Malignancies Completed NCT00438958 Phase 3
23 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
24 INSPIRE: An Internet-based RCT for Long-term Survivors of Hematopoietic Stem Cell Transplantation Completed NCT00799461 Phase 3
25 HSCT-CHESS to Enhance Hematopoietic Transplant Recovery Completed NCT00782145 Phase 3
26 Randomized Placebo Controlled Double Blind Study of Restasis Versus Placebo in Primary Prevention of Ocular GVHD After Allogeneic Stem Cell Transplantation Completed NCT00755040 Phase 3 cyclosporine ophthalmic emulsion
27 Phase III, Randomized, Double-Blind, Placebo-Controlled Crossover Trial of Ondansetron in the Control of Chronic Nausea and Vomiting Not Due to Antineoplastic Therapy in Patients With Advanced Cancer Completed NCT00006348 Phase 3 ondansetron
28 Allogeneic Blood or Marrow Transplantation for Hematologic Malignancy and Aplastic Anemia Completed NCT00003816 Phase 2, Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;fludarabine phosphate;melphalan;thiotepa
29 Music Video and Adolescent/Young Adult Resilience During Transplant Completed NCT00305851 Phase 3
30 Does Hypericum Reduce Fatigue in Cancer Patients on Chemotherapy? A Randomized, Double-Blind, Placebo-Controlled Clinical Trial Completed NCT00005805 Phase 3
31 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
32 A Strategic Study to Determine the Optimal Moment to Initiate Systemic Antifungal Therapy With Ambisome in Granulocytopenic Cancer Patients With Unexplained Fever Refractory to Empirical Antibacterials Completed NCT00003938 Phase 3 liposomal amphotericin B
33 A Multicenter, Double-Blind, Randomized, Comparative Study To Evaluate The Safety, Tolerability, And Efficacy Of MK-0991 Versus (Amphotericin B) Liposome For Injection As Empirical Therapy In Patients With Persistent Fever And Neutropenia Completed NCT00008359 Phase 3 caspofungin acetate;liposomal amphotericin B
34 The Use of American Ginseng (Panax Quinquefolius) to Improve Cancer-Related Fatigue: A Randomized, Double-Blind, Placebo-Controlled Phase III Study Completed NCT00719563 Phase 3 American ginseng
35 Phase III Randomized Trial of an Opioid Titration Order Sheet Compared to Standard of Care in Patients With Cancer Related Pain. Completed NCT00666211 Phase 3
36 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
37 A Phase 3b, Multicenter, Single-arm, Open-label Safety AND Efficacy Study of Fedratinib in Subjects With DIPSS-Intermediate or High-Risk Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis Recruiting NCT03755518 Phase 3 FEDRATINIB
38 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)
39 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
40 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
41 A Phase 3b, Open Label, Single-arm Rollover Study to Evaluate Long Term Safety in Subjects Who Have Participated in Other Luspatercept (Ace-536) Clinical Trials. Recruiting NCT04064060 Phase 3 Luspatercept
42 Eltrombopag for the Management of Thrombocytopenia Associated With Tyrosine Kinase Therapy in Patients With Chronic Myeloid Leukemia (CML) and Myelofibrosis (MF) Active, not recruiting NCT01428635 Phase 2, Phase 3 Eltrombopag Olamine
43 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
44 Safety and Efficacy of Ruxolitinib for COVID-19 Not yet recruiting NCT04348071 Phase 2, Phase 3 Ruxolitinib
45 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
46 A Randomized Study to Evaluate The Efficacy of Mycophenolate Mofetil Added to The Systemic Immunosuppressive Regimen First Used For Treatment of Chronic Graft-Versus-Host Disease Terminated NCT00089141 Phase 3 mycophenolate mofetil;placebo
47 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
48 A Randomized, Double Blind, Placebo-controlled, Multicenter, Phase III Study Investigating the Efficacy and Safety of Ruxolitinib in Early Myelofibrosis Patients With High Molecular Risk Mutations Terminated NCT02598297 Phase 3 Ruxolitinib;Ruxolitinib Placebo
49 Randomized, Double Blinded, Placebo-Controlled Trial of Antibacterial Prophylaxis for the Prevention of Bacterial Infections in the Post-Engraftment Phase After Allogeneic Hematopoeitic Stem Cell Transplantation Terminated NCT00324324 Phase 3 moxifloxacin hydrochloride;Placebo
50 A Phase I/II Open Label Study of LBH589, a Novel Histone Deacetylase Inhibitor (HDACi), in Patients With Primary Myelofibrosis (PMF) and Post-polycythemia/Essential Thrombocythemia Myelofibrosis (Post-PV/ET MF) Unknown status NCT01298934 Phase 1, Phase 2 LBH589

Search NIH Clinical Center for Myelofibrosis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Busulfan
ruxolitinib

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Myelofibrosis cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Myelofibrosis:
Peripheral blood-derived hematopoietic stem cells for treatment of myelofibrosis
Embryonic/Adult Cultured Cells Related to Myelofibrosis:
Peripheral blood-derived hematopoietic stem cells (family)

Cochrane evidence based reviews: primary myelofibrosis

Sources

Genetic Tests for Myelofibrosis

About this section

Genetic tests related to Myelofibrosis:

# Genetic test Affiliating Genes
1 Myelofibrosis 29 CALR JAK2 MPL SH2B3
2 Myelofibrosis with Myeloid Metaplasia 29
Sources

Anatomical Context for Myelofibrosis

About this section

MalaCards organs/tissues related to Myelofibrosis:

40
Bone, Myeloid, Bone Marrow, Spleen, T Cells, Liver, Endothelial
Sources

Publications for Myelofibrosis

About this section

Articles related to Myelofibrosis:

(show top 50) (show all 6551)
# Title Authors PMID Year
1
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. 61 54 6 56
15781101 2005
2
MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. 6 56 61
16868251 2006
3
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. 6 56 61
16834459 2006
4
A gain-of-function mutation of JAK2 in myeloproliferative disorders. 6 61 56
15858187 2005
5
Neuropathy of haematopoietic stem cell niche is essential for myeloproliferative neoplasms. 6 56
25043017 2014
6
Mesenchymal and haematopoietic stem cells form a unique bone marrow niche. 56 6
20703299 2010
7
Haematopoietic stem cell release is regulated by circadian oscillations. 6 56
18256599 2008
8
The JAK2 V617F mutation in de novo acute myelogenous leukemias. 61 54 6
16247455 2006
9
Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. 6 54 61
16325696 2005
10
JAK inhibitor in CALR-mutant myelofibrosis. 61 56
24645955 2014
11
JAK inhibitor in CALR-mutant myelofibrosis. 56 61
24645956 2014
12
Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. 6 61
24325359 2013
13
Somatic mutations of calreticulin in myeloproliferative neoplasms. 6 61
24325356 2013
14
Familial idiopathic myelofibrosis and multiple hemangiomas. 56 61
9766805 1998
15
Familial myelofibrosis. 56 61
7436463 1980
16
Effect of mutation order on myeloproliferative neoplasms. 6
25671252 2015
17
Interferon alfa therapy in CALR-mutated essential thrombocythemia. 56
25006741 2014
18
MPN patients harbor recurrent truncating mutations in transcription factor NF-E2. 56
23589569 2013
19
A novel murine model of myeloproliferative disorders generated by overexpression of the transcription factor NF-E2. 56
22231305 2012
20
Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. 6
20404132 2010
21
MicroRNA expression profiling of megakaryocytes in primary myelofibrosis and essential thrombocythemia. 46 61
19811223 2009
22
Mutation in TET2 in myeloid cancers. 56
19474426 2009
23
The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome. 6
19293426 2009
24
No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage. 6
19036091 2009
25
JAK2 V617F mutation in unexplained loss of first pregnancy. 6
17989398 2007
26
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. 6
16762626 2006
27
Case records of the Massachusetts General Hospital. Case 15-2006. A 46-year-old woman with sudden onset of abdominal distention. 6
16707754 2006
28
The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. 6
16603627 2006
29
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. 6
15793561 2005
30
Screening for MPL mutations in essential thrombocythemia and primary myelofibrosis: normal Mpl expression and absence of constitutive STAT3 and STAT5 activation in MPLW515L-positive platelets. 61 54
20113333 2010
31
Postsplenectomy sclerosing extramedullary hematopoietic tumor with unexpected good clinical evolution: morphologic, immunohistochemical, and molecular analysis of one case and review of the literature. 61 54
20042850 2010
32
Mutational analysis in BCR-ABL-negative classic myeloproliferative neoplasms: impact on prognosis and therapeutic choices. 61 54
20214447 2010
33
Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis. 61 54
20151976 2010
34
Efficacy of the JAK2 inhibitor INCB16562 in a murine model of MPLW515L-induced thrombocytosis and myelofibrosis. 61 54
20154217 2010
35
Therapeutic potential of Janus-activated kinase-2 inhibitors for the management of myelofibrosis. 61 54
20215535 2010
36
JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms. 54 61
19643476 2010
37
Therapy of myelofibrosis (excluding JAK2 inhibitors). 61 54
20178012 2010
38
MPL W515L/K mutations in 343 Chinese adults with JAK2V617F mutation-negative chronic myeloproliferative disorders detected by a newly developed RQ-PCR based on TaqMan MGB probes. 61 54
19274616 2010
39
Phase 2 study of CEP-701, an orally available JAK2 inhibitor, in patients with primary or post-polycythemia vera/essential thrombocythemia myelofibrosis. 54 61
20008298 2010
40
JAK2 germline genetic variation affects disease susceptibility in primary myelofibrosis regardless of V617F mutational status: nullizygosity for the JAK2 46/1 haplotype is associated with inferior survival. 54 61
19847199 2010
41
Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycythemia vera patient carrying the JAK2 V617F mutation. 61 54
20013324 2010
42
Peripheral T-cell lymphoma presenting as myelofibrosis with the expression of basic fibroblast growth factor. 61 54
20002760 2009
43
Identification of a novel inhibitor of JAK2 tyrosine kinase by structure-based virtual screening. 61 54
19447617 2009
44
Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. 61 54
19387008 2009
45
MPLW515L mutation in acute megakaryoblastic leukaemia. 54 61
19194467 2009
46
JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. 61 54
19287382 2009
47
Novel strategies for patients with chronic myeloproliferative disorders. 54 61
19468275 2009
48
Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1. 54 61
19175693 2009
49
Oncogenic signals as treatment targets in classic myeloproliferative neoplasms. 61 54
19147089 2009
50
Wild-type JAK2 secondary acute erythroleukemia developing after JAK2-V617F-mutated primary myelofibrosis. 61 54
19713696 2009
Sources

Variations for Myelofibrosis

About this section

ClinVar genetic disease variations for Myelofibrosis:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MPL NM_005373.2(MPL):c.1544G>T (p.Trp515Leu)SNV Pathogenic 14164 rs121913615 1:43815009-43815009 1:43349338-43349338
2 MPL NM_005373.2(MPL):c.1543_1544delinsAA (p.Trp515Lys)indel Pathogenic 14165 rs121913616 1:43815008-43815009 1:43349337-43349338
3 JAK2 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe)SNV Pathogenic 14662 rs77375493 9:5073770-5073770 9:5073770-5073770
4 SH2B3 NM_005475.2(SH2B3):c.603_607del (p.Arg202fs)deletion Pathogenic 30444 rs587776885 12:111856549-111856553 12:111418745-111418749
5 CALR NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs)deletion Pathogenic 97006 rs1555760738 19:13054565-13054616 19:12943751-12943802
6 MPL NM_005373.3(MPL):c.79+2T>ASNV Pathogenic/Likely pathogenic 135563 rs146249964 1:43803600-43803600 1:43337929-43337929
7 MPL NM_005373.2(MPL):c.1514G>A (p.Ser505Asn)SNV Pathogenic/Likely pathogenic 14163 rs121913614 1:43814979-43814979 1:43349308-43349308
8 SRC NM_005417.4(SRC):c.1579G>A (p.Glu527Lys)SNV Pathogenic/Likely pathogenic 225689 rs879255268 20:36031750-36031750 20:37403347-37403347
9 ATG2B , BDKRB1 , BDKRB2 , C14orf132 , GSKIP , LOC107984703 , LOC112272571 , TCL1A , TUNAR NC_000014.8:g.96163103_96857129dupduplication Likely pathogenic 208237 14:96163103-96857129 14:95696766-96390792
10 SH2B3 NM_001291424.1(SH2B3):c.592G>A (p.Glu198Lys)SNV Uncertain significance 501686 rs72650673 12:111885310-111885310 12:111447506-111447506

UniProtKB/Swiss-Prot genetic disease variations for Myelofibrosis:

73
# Symbol AA change Variation ID SNP ID
1 MPL p.Trp515Lys VAR_067560 rs121913616
2 MPL p.Trp515Leu VAR_067561 rs121913615

Copy number variations for Myelofibrosis from CNVD:

7 (show top 50) (show all 1783)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13799 1 1 5300000 Copy-Neutral LOH GABRD Myelofibrosis
2 13967 1 102000000 107000000 Amplification without LOH AMY2A Myelofibrosis
3 13968 1 102000000 107000000 Deletion without LOH COL11A1 Myelofibrosis
4 13969 1 102000000 107000000 Deletion without LOH PRMT6 Myelofibrosis
5 14306 1 107000000 111600000 Amplification without LOH GSTM1 Myelofibrosis
6 14307 1 107000000 111600000 Amplification without LOH GSTM5 Myelofibrosis
7 14308 1 107000000 111600000 Amplification without LOH KCNC4 Myelofibrosis
8 14310 1 107000000 111600000 Deletion without LOH FAM102B Myelofibrosis
9 14311 1 107000000 111600000 Deletion without LOH NBPF6 Myelofibrosis
10 14313 1 107000000 111600000 Deletion without LOH WDR47 Myelofibrosis
11 14960 1 111600000 115900000 Amplification without LOH KCND3 Myelofibrosis
12 14961 1 111600000 115900000 Amplification without LOH TRIM33 Myelofibrosis
13 14962 1 111600000 115900000 Deletion without LOH CTTNBP2NL Myelofibrosis
14 15472 1 115900000 117600000 Amplification without LOH ATP1A1 Myelofibrosis
15 15473 1 115900000 117600000 Amplification without LOH CASQ2 Myelofibrosis
16 15635 1 117600000 120700000 Deletion without LOH PHGDH Myelofibrosis
17 15636 1 117600000 120700000 Deletion without LOH VTCN1 Myelofibrosis
18 15637 1 117600000 120700000 Deletion without LOH ZNF697 Myelofibrosis
19 17279 1 142400000 148000000 Amplification without LOH NOTCH2NL Myelofibrosis
20 18948 1 148000000 149600000 Amplification without LOH LOC388692 Myelofibrosis
21 18949 1 148000000 149600000 Amplification without LOH NBPF16 Myelofibrosis
22 18952 1 148000000 149600000 Deletion without LOH FCGR1C Myelofibrosis
23 19322 1 149600000 153300000 Amplification without LOH LCE1D Myelofibrosis
24 19323 1 149600000 153300000 Amplification without LOH LCE3C Myelofibrosis
25 19324 1 149600000 153300000 Amplification without LOH POGZ Myelofibrosis
26 19325 1 149600000 153300000 Amplification without LOH THEM5 Myelofibrosis
27 20607 1 153300000 154800000 Amplification without LOH KCNN3 Myelofibrosis
28 20845 1 154800000 157300000 Amplification with LOH MIR555 Myelofibrosis
29 20846 1 154800000 157300000 Deletion without LOH LOC645676 Myelofibrosis
30 21201 1 157300000 158800000 Amplification without LOH OR6N2 Myelofibrosis
31 21202 1 157300000 158800000 Amplification without LOH OR6Y1 Myelofibrosis
32 21203 1 157300000 158800000 Deletion without LOH CD5L Myelofibrosis
33 21465 1 158800000 163800000 Amplification without LOH C1orf110 Myelofibrosis
34 21466 1 158800000 163800000 Amplification without LOH VSIG8 Myelofibrosis
35 21734 1 16100000 20300000 Amplification without LOH ARHGEF10L Myelofibrosis
36 21735 1 16100000 20300000 Amplification without LOH NBPF1 Myelofibrosis
37 21736 1 16100000 20300000 Amplification without LOH PAX7 Myelofibrosis
38 21737 1 16100000 20300000 Amplification without LOH RCC2 Myelofibrosis
39 21738 1 16100000 20300000 Amplification without LOH UQCRHL Myelofibrosis
40 21740 1 16100000 20300000 Copy-Neutral LOH ATP13A2 Myelofibrosis
41 21743 1 16100000 23800000 Copy-Neutral LOH MRTO4 Myelofibrosis
42 22129 1 165500000 169100000 Amplification without LOH LOC400794 Myelofibrosis
43 22130 1 165500000 169100000 Amplification without LOH MIR921 Myelofibrosis
44 22131 1 165500000 169100000 Deletion without LOH FMO9P Myelofibrosis
45 22825 1 169100000 171200000 Amplification without LOH NME7 Myelofibrosis
46 22829 1 169100000 171200000 Deletion without LOH KIFAP3 Myelofibrosis
47 23058 1 171200000 174300000 Amplification without LOH C1orf105 Myelofibrosis
48 23059 1 171200000 174300000 Deletion without LOH BAT2L2 Myelofibrosis
49 23060 1 171200000 174300000 Deletion without LOH DNM3 Myelofibrosis
50 23061 1 171200000 174300000 Deletion without LOH SLC9A11 Myelofibrosis
Sources

Expression for Myelofibrosis

About this section
Search GEO for disease gene expression data for Myelofibrosis.
Sources

Pathways for Myelofibrosis

About this section

Pathways related to Myelofibrosis according to KEGG:

36
# Name Kegg Source Accession
1 JAK-STAT signaling pathway hsa04630

Pathways related to Myelofibrosis according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
TGF-Beta Pathway 63
Show member pathways
 13.35 THPO SRC MPL KIT JAK2 FGF2
2
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 13.05 THPO SRC SH2B3 MPL MPIG6B JAK2
3
JAK-STAT signaling pathway 36
Show member pathways
 12.23 THPO SRC MPL JAK2 EPO
4
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.19 THPO SRC KIT FGF2 BMP6
5
Tyrosine Kinases / Adaptors 4
11.88 SRC KIT JAK2 FGF2
6
Hematopoietic cell lineage 36
11.71 THPO KIT EPO
7
Integrin alphaIIb beta3 signaling 65
Show member pathways
 11.69 THPO SRC MPL
8
Development EPO-induced Jak-STAT pathway 22
Show member pathways
 11.61 SRC SH2B3 JAK2 EPO
9
Kit receptor signaling pathway 1
Show member pathways
 11.56 SRC SH2B3 KIT JAK2 EPO
10
Mesenchymal Stem Cells and Lineage-specific Markers 64
11.54 THPO KIT FGF2 BMP6
11
Differentiation Pathway 1
11.33 KIT FGF2 EPO
12
Paxillin-dependent events mediated by a4b1 1
Show member pathways
 11.28 SRC JAK2 EPO
13
Hematopoietic Stem Cells and Lineage-specific Markers 64
11.09 THPO SH2B3 MPL KIT EPO
14
Regulation of KIT signaling 65
10.54 SRC SH2B3 KIT
Sources

GO Terms for Myelofibrosis

About this section

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.23 THPO MIR223 MIR146B KIT FGF2 EPO

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.92 MPL KIT JAK2 FGF2
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.88 THPO SRC FGF2 EPO
3 positive regulation of cell proliferation GO:0008284 9.87 THPO KIT JAK2 FGF2 EPO CALR
4 positive regulation of protein kinase B signaling GO:0051897 9.84 THPO SRC KIT FGF2
5 blood coagulation GO:0007596 9.8 SH2B3 MPIG6B JAK2 GATA1 CD177
6 positive regulation of gene expression GO:0010628 9.8 SRC MIR223 KIT HMGA2 CDKN2B-AS1 CALR
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.76 KIT JAK2 EPO
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.76 SRC JAK2 GATA1 BMP6
9 positive regulation of MAP kinase activity GO:0043406 9.74 SRC KIT FGF2
10 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.73 SRC KIT JAK2 EPO
11 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.69 SRC KIT FGF2
12 myeloid cell differentiation GO:0030099 9.65 THPO TET2 GATA1
13 positive regulation of DNA biosynthetic process GO:2000573 9.62 SRC FGF2
14 positive regulation of SMAD protein signal transduction GO:0060391 9.61 JAK2 BMP6
15 cellular response to thyroid hormone stimulus GO:0097067 9.61 KIT GATA1
16 positive regulation of phospholipase C activity GO:0010863 9.6 KIT FGF2
17 negative regulation of fibroblast migration GO:0010764 9.59 MIR146B FGF2
18 megakaryocyte differentiation GO:0030219 9.56 MPIG6B GATA1
19 neutrophil homeostasis GO:0001780 9.55 SH2B3 MPL
20 embryonic hemopoiesis GO:0035162 9.54 SH2B3 KIT GATA1
21 erythropoietin-mediated signaling pathway GO:0038162 9.52 KIT EPO
22 monocyte homeostasis GO:0035702 9.49 SH2B3 MPL
23 thrombopoietin-mediated signaling pathway GO:0038163 9.33 THPO SH2B3 MPL
24 megakaryocyte development GO:0035855 9.26 THPO SH2B3 MPIG6B KIT
25 erythrocyte differentiation GO:0030218 9.02 MPIG6B KIT JAK2 GATA1 EPO

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.46 THPO FGF2 EPO BMP6
2 C2H2 zinc finger domain binding GO:0070742 9.32 HMGA2 GATA1
3 BMP receptor binding GO:0070700 9.26 SRC BMP6
4 integrin binding GO:0005178 9.26 SRC FGF2 CD177 CALR
5 SH2 domain binding GO:0042169 8.8 SRC KIT JAK2
Sources

Sources for Myelofibrosis

About this section
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
Content
Loading form....