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MYELOF
MCID: MYL005
MIFTS: 69

Myelofibrosis (MYELOF)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Myelofibrosis

About this section

MalaCards integrated aliases for Myelofibrosis:

Name: Myelofibrosis 57 12 75 53 74 37 29 55 6 15 38 40 72
Primary Myelofibrosis 12 53 25 59 55 44 17 72
Agnogenic Myeloid Metaplasia 12 53 25 59 74 55
Idiopathic Myelofibrosis 53 25 59 74 55
Myelofibrosis with Myeloid Metaplasia 25 59 74 6
Myeloid Metaplasia 53 25 55 72
Osteomyelofibrosis 59 72 33
Myelofibrosis with Myeloid Metaplasia, Somatic 57 13
Megakaryocytic Myelosclerosis 12 72
Myelosclerosis 12 74
Agnogenic Myeloid Metaplasia with Myelofibrosis 74
Myelosclerosis with Myeloid Metaplasia 74
Chronic Idiopathic Myelofibrosis 25
Myelofibrosis, Somatic 57
Bone Marrow Fibrosis 12
Aleukemic Myelosis 12
Myelof 74
Ammm 74
Mmm 74

Characteristics:

Orphanet epidemiological data:

59
primary myelofibrosis
Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

OMIM:

57
Inheritance:
somatic mutation

Miscellaneous:
onset first weeks of life


HPO:

32
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: 33 34
Orphanet: 59  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:4971
OMIM 57 254450
KEGG 37 H01605
ICD9CM 35 238.76 289.83
NCIt 50 C2862 C3248
ICD10 33 D47.4 D75.81
ICD10 via Orphanet 34 D47.4
UMLS via Orphanet 73 C0001815 C0026987
Orphanet 59 ORPHA824
UMLS 72 C0001815 C0026987 C0027013 more
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 myeloproliferative neoplasm and megakaryocytic leukemia. 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 Response to elevated platelet cytosolic Ca2+. The drugs Parathyroid hormone and Calcium 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 : 53 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 : 37
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 : 74 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 : 75 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 613)
# Related Disease Score Top Affiliating Genes
1 myeloproliferative neoplasm 33.4 TET2 SH2B3 MPL KIT JAK2 CALR
2 megakaryocytic leukemia 33.3 THPO JAK2 GATA1
3 splenomegaly 32.7 MPL JAK2 EPO
4 polycythemia vera 32.6 THPO TET2 MPL KIT JAK2 HMGA2
5 pancytopenia 32.2 THPO MPL EPO
6 thrombocytopenia 32.1 THPO MPL MPIG6B GATA1
7 thrombocytosis 32.1 THPO TET2 MPL JAK2 EPO
8 polycythemia 32.0 THPO TET2 MPL JAK2 EPO CD177
9 deficiency anemia 31.9 THPO GATA1 EPO
10 essential thrombocythemia 31.8 THPO TET2 SH2B3 MPL MIR223 JAK2
11 refractory anemia 31.4 TET2 MPL JAK2 EPO
12 chronic myelomonocytic leukemia 31.4 TET2 KIT JAK2
13 systemic mastocytosis 31.3 TET2 KIT JAK2
14 myelodysplastic syndrome 31.1 THPO TET2 MPL MEG3 KIT JAK2
15 aplastic anemia 31.1 THPO TET2 MPL GATA1 EPO
16 myeloma, multiple 31.0 MEG3 KIT JAK2 FGF2 EPO
17 hematologic cancer 30.9 THPO TET2 MPL KIT JAK2
18 acquired polycythemia 30.9 JAK2 EPO
19 chromosome 5q deletion syndrome 30.6 TET2 EPO
20 blood platelet disease 30.6 THPO MPL JAK2
21 thrombocythemia 1 30.6 THPO SH2B3 MPL CALR
22 erythrocytosis, familial, 1 30.5 THPO SH2B3 JAK2 EPO
23 diamond-blackfan anemia 30.4 THPO MPL GATA1 EPO
24 primary polycythemia 30.2 TET2 MPL JAK2 EPO CD177 CALR
25 leukemia, chronic myeloid 29.5 THPO MPL MIR223 MEG3 KIT JAK2
26 glioma 29.3 MIR146B MEG3 FGF2 CDKN2B-AS1
27 leukemia, acute myeloid 29.2 WT1-AS THPO TET2 MPL MIR223 MEG3
28 acute panmyelosis with myelofibrosis 12.8
29 thrombocytopenia, anemia, and myelofibrosis 12.5
30 cellular phase chronic idiopathic myelofibrosis 12.3
31 thrombocytopenia 6 12.1
32 gray platelet syndrome 11.9
33 neutropenia, severe congenital, 5, autosomal recessive 11.5
34 specific granule deficiency 2 11.3
35 bleeding disorder, platelet-type, 17 11.2
36 subacute myeloid leukemia 10.9 TET2 JAK2
37 thrombocytopenia 3 10.8 THPO MPL
38 folic acid deficiency anemia 10.8 THPO TET2 EPO
39 blood coagulation disease 10.8 THPO MPL JAK2
40 sm-ahnmd 10.7 TET2 KIT
41 deep leiomyoma 10.7 KIT CD177
42 dyskeratosis congenita, autosomal dominant 6 10.7 THPO MPL
43 myeloid leukemia 10.6
44 kidney fibrosarcoma 10.6 HMGA2 EPO
45 juvenile nasopharyngeal angiofibroma 10.6 KIT FGF2 BMP6
46 endosteal hyperostosis, autosomal dominant 10.6
47 hematopoietic stem cell transplantation 10.6
48 thrombocytopenia-absent radius syndrome 10.6 THPO MPL JAK2 GATA1 CALR
49 retinitis pigmentosa and erythrocytic microcytosis 10.6 JAK2 EPO
50 leukemia 10.6

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:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
2 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
3 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
4 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
5 pallor 59 32 frequent (33%) Frequent (79-30%) HP:0000980
6 thrombocytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001873
7 hepatosplenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001433
8 abnormal megakaryocyte morphology 59 32 frequent (33%) Frequent (79-30%) HP:0012143
9 portal hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0001409
10 pancytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001876
11 venous thrombosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004936
12 anorexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002039
13 easy fatigability 59 32 occasional (7.5%) Occasional (29-5%) HP:0003388
14 thrombocytosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001894
15 leukocytosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001974
16 petechiae 59 32 occasional (7.5%) Occasional (29-5%) HP:0000967
17 arterial thrombosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004420
18 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
19 low-grade fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0011134
20 extramedullary hematopoiesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001978
21 flank pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0030157
22 poikilocytosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004447
23 bone marrow hypercellularity 59 32 occasional (7.5%) Occasional (29-5%) HP:0031020
24 ecchymosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0031364
25 cachexia 59 32 very rare (1%) Very rare (<4-1%) HP:0004326
26 increased lactate dehydrogenase activity 59 32 very rare (1%) Very rare (<4-1%) HP:0025435
27 hemangioma 59 32 very rare (1%) Very rare (<4-1%) HP:0001028
28 hematological neoplasm 59 32 very rare (1%) Very rare (<4-1%) HP:0004377
29 fever 59 32 Occasional (29-5%) HP:0001945
30 purpura 59 32 Occasional (29-5%) HP:0000979
31 abnormal bleeding 59 Occasional (29-5%)
32 abnormal thrombosis 59 Occasional (29-5%)
33 abnormality of blood and blood-forming tissues 59 Frequent (79-30%)
34 abnormality of bone marrow cell morphology 59 Very frequent (99-80%)
35 autoimmune antibody positivity 59 Excluded (0%)
36 constitutional symptom 59 Frequent (79-30%)
37 myeloproliferative disorder 32 HP:0005547
38 myelofibrosis 32 HP:0011974

Symptoms via clinical synopsis from OMIM:

57
Hematology:
myeloproliferative disease
reduced hemopoiesis
generalized bone marrow fibrosis
no hemophagocytosis

Clinical features from OMIM:

254450

MGI Mouse Phenotypes related to Myelofibrosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.7 CD177 EPO FGF2 GATA1 JAK2 KIT
2 immune system MP:0005387 9.32 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 351)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
2
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
3
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
4
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
6
Lactitol Investigational Phase 4 585-86-4, 585-88-6 493591
7 Hormones Phase 4
8 Bone Density Conservation Agents Phase 4
9 Micronutrients Phase 4
10 Trace Elements Phase 4
11 Vitamins Phase 4
12 Nutrients Phase 4
13 Mitogens Phase 4
14 Calcium, Dietary Phase 4
15 Vitamin D2 Phase 4
16 Ergocalciferols Phase 4
17 Angiogenesis Inducing Agents Phase 4
18 Endothelial Growth Factors Phase 4
19 Calciferol Phase 4
20 Cariostatic Agents Phase 4
21
Tin Phase 4 7440-31-5
22 Tin Fluorides Phase 4
23 Fluorides Phase 4
24
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
25
Ribavirin Approved Phase 3 36791-04-5 37542
26
Palivizumab Approved, Investigational Phase 3 188039-54-5
27
Dalteparin Approved Phase 3 9005-49-6
28
Captopril Approved Phase 3 62571-86-2 44093
29
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
30
Itraconazole Approved, Investigational Phase 3 84625-61-6 55283
31
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
32
Acyclovir Approved Phase 3 59277-89-3 2022
33
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
34
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
35
Caspofungin Approved Phase 3 179463-17-3, 162808-62-0 468682 2826718
36
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
37
Thiotepa Approved, Investigational Phase 2, Phase 3 52-24-4 5453
38
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 498142 38904
39
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
40
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
41
Anagrelide Approved Phase 3 68475-42-3 2182
42
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
43
Mercaptopurine Approved Phase 3 50-44-2 667490
44
Danazol Approved Phase 3 17230-88-5 28417
45
Hydroxyurea Approved Phase 3 127-07-1 3657
46
Moxifloxacin Approved, Investigational Phase 3 354812-41-2, 151096-09-2 152946
47
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
48
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
49
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
50
Polyestradiol phosphate Approved Phase 3 28014-46-2

Interventional clinical trials:

(show top 50) (show all 488)
# 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 An Open Label, Multi-center, Phase IV Roll-over Protocol for Patients Who Have Completed a Prior Global Novartis or Incyte Sponsored Ruxolitinib (INC424) Study and Are Judged by the Investigator to Benefit From Continued Treatment Recruiting NCT02386800 Phase 4 Ruxolitinib
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 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
10 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
11 Phase III Study of Captopril in Patients Undergoing Autologous Bone Marrow/Stem Cell Transplantation Completed NCT00004230 Phase 3 captopril;cyclophosphamide
12 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
13 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
14 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)
15 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
16 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
17 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
18 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
19 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
20 Randomized Study for Comparison of Reduced Intensity Conditioning Protocols Containing Either Thymoglobuline or Alemtuzumab in Patients Undergoing Allogeneic Transplant From Voluntary Unrelated Donors Completed NCT00354120 Phase 2, Phase 3 Alentuzumab;Globulina antilinfocitaria
21 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
22 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
23 INSPIRE: An Internet-based RCT for Long-term Survivors of Hematopoietic Stem Cell Transplantation Completed NCT00799461 Phase 3
24 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
25 HSCT-CHESS to Enhance Hematopoietic Transplant Recovery Completed NCT00782145 Phase 3
26 Music Video and Adolescent/Young Adult Resilience During Transplant Completed NCT00305851 Phase 3
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 Does Hypericum Reduce Fatigue in Cancer Patients on Chemotherapy? A Randomized, Double-Blind, Placebo-Controlled Clinical Trial Completed NCT00005805 Phase 3
29 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
30 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
31 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
32 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
33 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
34 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
35 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
36 Haploidentical Allogeneic Peripheral Blood Transplantation: Clinical Trial and Laboratory Correlates Examining Checkpoint Immune Regulators' Expression Recruiting NCT03480360 Phase 3 Cyclophosphamide;Fludarabine;Tacrolimus;cellcept;g-csf
37 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) Active, not recruiting NCT01969838 Phase 3 Momelotinib;Ruxolitinib;Placebo to match momelotinib;Placebo to match ruxolitinib
38 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 Active, not recruiting NCT02101268 Phase 3 Momelotinib;Best Available Therapy (BAT)
39 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
40 Allogeneic Blood or Marrow Transplantation for Hematologic Malignancy and Aplastic Anemia Active, not recruiting NCT00003816 Phase 2, Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;fludarabine phosphate;melphalan;thiotepa
41 A MULTICENTER, OPEN-LABEL, RANDOMIZED STUDY TO EVALUATE THE EFFICACY AND SAFETY OF FEDRATINIB COMPARED TO BEST AVAILABLE THERAPY IN SUBJECTS WITH DIPSS-INTERMEDIATE OR HIGH-RISK PRIMARY MYELOFIBROSIS, POST-POLYCYTHEMIA VERA MYELOFIBROSIS, OR POST-ESSENTIAL THROMBOCYTHEMIA MYELOFIBROSIS AND PREVIOUSLY TREATED WITH RUXOLITINIB Not yet recruiting NCT03952039 Phase 3 FEDRATINIB;Best Available Therapy (BAT)
42 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
43 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
44 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
45 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
46 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
47 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
48 A Multicenter, Open Label Phase I/II Study of CEP-701 (Lestaurtinib) in Adults With Myelofibrosis Unknown status NCT00668421 Phase 1, Phase 2 CEP-701 (Lestaurtinib)
49 A Multiinstitutional Trial To Evaluate The Prophylactic Use Of NASA-Developed Light Emitting Diodes For The Prevention Of Oral Mucositis In Bone Marrow Transplant Patients Unknown status NCT00036712 Phase 2
50 A Phase II Study of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia. Unknown status NCT00866762 Phase 2 HDAC inhibitor (MK-0683)

Search NIH Clinical Center for Myelofibrosis

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Busulfan
Fedratinib
Oxymetholone
ruxolitinib
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
Sources

Anatomical Context for Myelofibrosis

About this section

MalaCards organs/tissues related to Myelofibrosis:

41
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 6274)
# Title Authors PMID Year
1
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. 9 38 8 71
15781101 2005
2
MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. 38 8 71
16868251 2006
3
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. 38 8 71
16834459 2006
4
A gain-of-function mutation of JAK2 in myeloproliferative disorders. 38 8 71
15858187 2005
5
Neuropathy of haematopoietic stem cell niche is essential for myeloproliferative neoplasms. 8 71
25043017 2014
6
Mesenchymal and haematopoietic stem cells form a unique bone marrow niche. 8 71
20703299 2010
7
Haematopoietic stem cell release is regulated by circadian oscillations. 8 71
18256599 2008
8
The JAK2 V617F mutation in de novo acute myelogenous leukemias. 9 38 71
16247455 2006
9
Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. 9 38 71
16325696 2005
10
JAK inhibitor in CALR-mutant myelofibrosis. 38 8
24645955 2014
11
JAK inhibitor in CALR-mutant myelofibrosis. 38 8
24645956 2014
12
Somatic mutations of calreticulin in myeloproliferative neoplasms. 38 71
24325356 2013
13
Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. 38 71
24325359 2013
14
Familial idiopathic myelofibrosis and multiple hemangiomas. 38 8
9766805 1998
15
Familial myelofibrosis. 38 8
7436463 1980
16
Effect of mutation order on myeloproliferative neoplasms. 71
25671252 2015
17
Interferon alfa therapy in CALR-mutated essential thrombocythemia. 8
25006741 2014
18
MPN patients harbor recurrent truncating mutations in transcription factor NF-E2. 8
23589569 2013
19
A novel murine model of myeloproliferative disorders generated by overexpression of the transcription factor NF-E2. 8
22231305 2012
20
Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. 71
20404132 2010
21
MicroRNA expression profiling of megakaryocytes in primary myelofibrosis and essential thrombocythemia. 38 88
19811223 2009
22
Mutation in TET2 in myeloid cancers. 8
19474426 2009
23
The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome. 71
19293426 2009
24
No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage. 71
19036091 2009
25
JAK2 V617F mutation in unexplained loss of first pregnancy. 71
17989398 2007
26
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. 71
16762626 2006
27
Case records of the Massachusetts General Hospital. Case 15-2006. A 46-year-old woman with sudden onset of abdominal distention. 71
16707754 2006
28
The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. 71
16603627 2006
29
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. 71
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. 9 38
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. 9 38
20042850 2010
32
Efficacy of the JAK2 inhibitor INCB16562 in a murine model of MPLW515L-induced thrombocytosis and myelofibrosis. 9 38
20154217 2010
33
Therapeutic potential of Janus-activated kinase-2 inhibitors for the management of myelofibrosis. 9 38
20215535 2010
34
Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis. 9 38
20151976 2010
35
Mutational analysis in BCR-ABL-negative classic myeloproliferative neoplasms: impact on prognosis and therapeutic choices. 9 38
20214447 2010
36
JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms. 9 38
19643476 2010
37
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. 9 38
19274616 2010
38
Therapy of myelofibrosis (excluding JAK2 inhibitors). 9 38
20178012 2010
39
Phase 2 study of CEP-701, an orally available JAK2 inhibitor, in patients with primary or post-polycythemia vera/essential thrombocythemia myelofibrosis. 9 38
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. 9 38
19847199 2010
41
Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycythemia vera patient carrying the JAK2 V617F mutation. 9 38
20013324 2010
42
Peripheral T-cell lymphoma presenting as myelofibrosis with the expression of basic fibroblast growth factor. 9 38
20002760 2009
43
Identification of a novel inhibitor of JAK2 tyrosine kinase by structure-based virtual screening. 9 38
19447617 2009
44
Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. 9 38
19387008 2009
45
MPLW515L mutation in acute megakaryoblastic leukaemia. 9 38
19194467 2009
46
JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. 9 38
19287382 2009
47
Novel strategies for patients with chronic myeloproliferative disorders. 9 38
19468275 2009
48
Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1. 9 38
19175693 2009
49
Extramedullary peritoneal hematopoiesis combined with tuberculosis in a patient with primary myelofibrosis. 9 38
18850308 2009
50
The 2008 WHO diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis. 9 38
20425436 2009
Sources

Variations for Myelofibrosis

About this section

ClinVar genetic disease variations for Myelofibrosis:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 JAK2 NM_004972.3(JAK2): c.1849G> T (p.Val617Phe) single nucleotide variant Pathogenic rs77375493 9:5073770-5073770 9:5073770-5073770
2 SH2B3 NM_005475.2(SH2B3): c.603_607del (p.Arg202fs) deletion Pathogenic rs587776885 12:111856552-111856556 12:111418748-111418752
3 CALR NM_004343.3(CALR): c.1092_1143del52 (p.Leu367Thrfs) deletion Pathogenic rs1555760738 19:13054565-13054616 19:12943751-12943802
4 MPL NM_005373.2(MPL): c.1543_1544delinsAA (p.Trp515Lys) indel Pathogenic rs121913616 1:43815008-43815009 1:43349337-43349338
5 MPL NM_005373.2(MPL): c.1544G> T (p.Trp515Leu) single nucleotide variant Pathogenic rs121913615 1:43815009-43815009 1:43349338-43349338
6 MPL NM_005373.2(MPL): c.1514G> A (p.Ser505Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121913614 1:43814979-43814979 1:43349308-43349308
7 MPL NM_005373.2(MPL): c.79+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs146249964 1:43803600-43803600 1:43337929-43337929
8 ATG2B ; BDKRB1 ; BDKRB2 ; C14orf132 ; GSKIP ; LOC107984703 ; LOC112272571 ; TCL1A ; TUNAR NC_000014.8: g.96163103_96857129dup duplication Likely pathogenic 14:96163103-96857129 14:95696766-96390792
9 SH2B3 NM_005475.2(SH2B3): c.1198G> A (p.Glu400Lys) single nucleotide variant Uncertain significance rs72650673 12:111885310-111885310 12:111447506-111447506

UniProtKB/Swiss-Prot genetic disease variations for Myelofibrosis:

74
# 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 Chromosom 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 withou t LOH ARHGEF10L Myelofibrosis
36 21735 1 16100000 20300000 Amplification withou t LOH NBPF1 Myelofibrosis
37 21736 1 16100000 20300000 Amplification withou t LOH PAX7 Myelofibrosis
38 21737 1 16100000 20300000 Amplification withou t LOH RCC2 Myelofibrosis
39 21738 1 16100000 20300000 Amplification withou t 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:

37
# Name Kegg Source Accession
1 JAK-STAT signaling pathway hsa04630

Pathways related to Myelofibrosis according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 12.94 THPO SH2B3 MPL MPIG6B JAK2 GATA1
2
NF-kappaB Signaling 4
12.33 MPL KIT JAK2 GATA1
3
JAK-STAT signaling pathway (KEGG) 37
Show member pathways
 12.1 THPO MPL JAK2 EPO
4
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.03 THPO KIT FGF2 BMP6
5
Visual Cycle in Retinal Rods 64
11.64 THPO MPL JAK2
6
Hematopoietic cell lineage 37
11.57 THPO KIT EPO
7
Development EPO-induced Jak-STAT pathway 22
Show member pathways
 11.53 SH2B3 JAK2 EPO
8
Kit receptor signaling pathway 1
Show member pathways
 11.46 SH2B3 KIT JAK2 EPO
9
MECP2 and Associated Rett Syndrome 1
11.23 TET2 FKBP5 FGF2
10
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.09 THPO SH2B3 MPL KIT EPO
11
Development_Thrombopoetin signaling via JAK-STAT pathway 22
11.01 THPO MPL JAK2
12
Differentiation Pathway 1
11.01 KIT FGF2 EPO
13
Regulation of KIT signaling 66
10.66 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 9.17 THPO MIR223 KIT FGF2 EPO CALR

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.85 MPL KIT JAK2 FGF2
2 positive regulation of gene expression GO:0010628 9.85 MIR223 KIT HMGA2 CDKN2B-AS1 CALR
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.8 THPO KIT FGF2 EPO
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.65 KIT JAK2 EPO
5 blood coagulation GO:0007596 9.65 SH2B3 MPIG6B JAK2 GATA1 CD177
6 platelet formation GO:0030220 9.56 MPIG6B GATA1
7 megakaryocyte development GO:0035855 9.54 MPIG6B KIT
8 cellular response to thyroid hormone stimulus GO:0097067 9.52 KIT GATA1
9 positive regulation of phospholipase C activity GO:0010863 9.51 KIT FGF2
10 myeloid cell differentiation GO:0030099 9.5 THPO TET2 GATA1
11 positive regulation of cell proliferation GO:0008284 9.5 THPO KIT JAK2 FGF2 EPO CALR
12 megakaryocyte differentiation GO:0030219 9.43 MPIG6B GATA1
13 thrombopoietin-mediated signaling pathway GO:0038163 9.4 THPO MPL
14 erythropoietin-mediated signaling pathway GO:0038162 9.37 KIT EPO
15 embryonic hemopoiesis GO:0035162 9.33 SH2B3 KIT GATA1
16 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 integrin binding GO:0005178 9.33 FGF2 CD177 CALR
2 C2H2 zinc finger domain binding GO:0070742 8.96 HMGA2 GATA1
3 cytokine activity GO:0005125 8.92 THPO FGF2 EPO BMP6
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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