MYELOF
MCID: MYL005
MIFTS: 71

Myelofibrosis (MYELOF)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Myelofibrosis

MalaCards integrated aliases for Myelofibrosis:

Name: Myelofibrosis 57 11 75 73 28 53 5 14 36 38 71
Primary Myelofibrosis 11 19 42 58 28 53 5 43 16 71 75 33
Agnogenic Myeloid Metaplasia 11 19 42 58 73 53
Idiopathic Myelofibrosis 19 42 58 73 53
Myeloid Metaplasia 19 42 53 71
Myelofibrosis with Myeloid Metaplasia 42 58 73
Osteomyelofibrosis 58 71 31
Chronic Idiopathic Myelofibrosis 42 33
Megakaryocytic Myelosclerosis 11 71
Myelofibrosis, Idiopathic 75 12
Myelosclerosis 11 73
Agnogenic Myeloid Metaplasia with Myelofibrosis 73
Myelofibrosis with Myeloid Metaplasia, Somatic 57
Myelosclerosis with Myeloid Metaplasia 73
Myelofibrosis, Somatic 57
Bone Marrow Fibrosis 11
Aleukemic Myelosis 11
Myelofibrosis Nos 33
Myelof 73
Ammm 73
Mmm 73

Characteristics:


Inheritance:

Somatic mutation 57

Prevelance:

Primary Myelofibrosis: 1-9/100000 (Europe, Europe) 58

Age Of Onset:

Primary Myelofibrosis: Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset first weeks of life


Classifications:

Orphanet: 58  
Rare haematological diseases


Summaries for Myelofibrosis

MedlinePlus Genetics: 42 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 acute megakaryocytic leukemia and thrombocytosis. An important gene associated with Myelofibrosis is MPL (MPL Proto-Oncogene, Thrombopoietin Receptor), and among its related pathways/superpathways are TGF-Beta Pathway and Response to elevated platelet cytosolic Ca2+. The drugs Panobinostat and Lactitol have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, myeloid and bone, and related phenotypes are fatigue and anemia

GARD: 19 Primary myelofibrosis is characterized by the buildup of scar tissue (fibrosis) in the spongy tissue tissue inside the bone (bone marrow). The spongy tissue inside bone contains the stem cells that will produce blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. This may lead to anemia, weakness, fatigue, and often, swelling of the liver and spleen. The disorder occurs when blood stem cells develop somatic genetic changes in the JAK2, MPL, CALR, and TET2 genes. Other genes may also be involved. The disorder is generally not inherited because this type of genetic change does not affect the reproductive cells (sperm and egg) only certain cells of the body (somatic).

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.

Orphanet: 58 A rare myeloproliferative neoplasm characterized by stem-cell derived clonal over proliferation of mature myeloid lineages, such as erythrocytes, leukocytes, and megakaryocytes, with variable degrees of megakaryocyte atypia, associated with reticulin and/or collagen bone marrow fibrosis, osteosclerosis, ineffective erythropoiesis, angiogenesis, extramedullary hematopoiesis, and abnormal cytokine expression.

Disease Ontology: 11 A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.

Wikipedia: 75 Primary myelofibrosis (PMF) is a rare bone marrow blood cancer. It is classified by the World Health... more...

More information from OMIM: 254450

Related Diseases for Myelofibrosis

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

(show top 50) (show all 795)
# Related Disease Score Top Affiliating Genes
1 acute megakaryocytic leukemia 32.5 THPO MPL KIT JAK2 GATA1
2 thrombocytosis 31.9 THPO TET2 MPL JAK2 EPO CD177
3 myeloproliferative neoplasm 31.9 THPO TET2 SH2B3 MPL KIT JAK2
4 splenomegaly 31.9 MPL JAK2 INSL6 EPO
5 thrombocytopenia 31.9 THPO SRC MPL MPIG6B KIT JAK2
6 pancytopenia 31.8 THPO MPL MPIG6B KIT EPO
7 thrombocythemia 1 31.8 THPO SH2B3 MPL CALR
8 polycythemia vera 31.7 THPO TET2 SRC MPL KIT JAK2
9 myelodysplastic syndrome 31.7 THPO TET2 MPL MEG3 KIT JAK2
10 aplastic anemia 31.6 THPO MPL GATA1 EPO
11 acute leukemia 31.6 THPO MPL KIT JAK2 GATA1 EPO
12 essential thrombocythemia 31.5 THPO TET2 SH2B3 MPL MIR223 KIT
13 deficiency anemia 31.4 THPO SH2B3 MPL KIT JAK2 GATA1
14 polycythemia 31.3 THPO TET2 SH2B3 MPL JAK2 INSL6
15 neutropenia 31.3 THPO MPL JAK2 EPO CD177
16 refractory anemia 31.2 TET2 MPL EPO
17 myelophthisic anemia 31.1 TET2 SH2B3 MPL JAK2 EPO CALR
18 mastocytosis 31.1 TET2 KIT JAK2
19 leukemia, chronic myeloid 31.1 THPO TET2 SRC MPL MIR223 MEG3
20 systemic mastocytosis 31.0 TET2 KIT JAK2
21 wernicke encephalopathy 31.0 MPL JAK2 CALR
22 blood platelet disease 31.0 THPO TET2 MPL KIT JAK2 GATA1
23 hemoglobinuria 30.9 THPO MPL EPO
24 portal vein thrombosis 30.9 THPO MPL JAK2
25 myeloma, multiple 30.9 TET2 SH2B3 MEG3 JAK2 FGF2 EPO
26 acute erythroid leukemia 30.9 KIT JAK2 GATA1 EPO
27 hematologic cancer 30.8 THPO MPL MIR223 MIR146B KIT JAK2
28 acquired polycythemia 30.8 MPL JAK2 EPO CALR
29 chronic myelomonocytic leukemia 30.8 TET2 SH2B3 MPL KIT JAK2 CALR
30 peripheral nervous system disease 30.8 SRC KIT JAK2 FGF2 EPO
31 splenic sequestration 30.6 THPO MPL EPO
32 chronic neutrophilic leukemia 30.6 TET2 JAK2 CALR
33 leukemia, chronic lymphocytic 30.5 THPO TET2 SRC MIR223 MIR146B KIT
34 myelodysplastic/myeloproliferative neoplasm 30.5 TET2 KIT JAK2 CALR
35 leukemia, acute lymphoblastic 30.5 THPO MPL MIR223 KIT JAK2 GATA1
36 diamond-blackfan anemia 30.4 THPO MPL KIT JAK2 GATA1 EPO
37 leukemia, acute myeloid 30.4 WT1-AS THPO TET2 SRC MPL MIR223
38 bone marrow cancer 30.4 THPO TET2 MPL MIR146B KIT JAK2
39 budd-chiari syndrome 30.3 MPL JAK2 INSL6 CALR
40 wilms tumor 1 30.3 WT1-AS TET2 MEG3 KIT
41 atypical chronic myeloid leukemia, bcr-abl1 negative 30.2 TET2 JAK2 CALR
42 chronic leukemia 30.2 TET2 KIT JAK2
43 beta-thalassemia major 30.2 GATA1 EPO BMP6
44 rasopathy 30.1 SRC KIT JAK2 FGF2
45 glioma 30.1 MIR146B MEG3 FGF2 CDKN2B-AS1 BMP6
46 acquired von willebrand syndrome 30.1 JAK2 CALR
47 acute promyelocytic leukemia 30.1 TET2 MIR223 MIR146B KIT GATA1
48 thrombocytopenia 1 30.1 THPO GATA1
49 chronic eosinophilic leukemia 30.1 TET2 SH2B3 MPL KIT JAK2 CALR
50 connective tissue disease 30.0 SRC MIR223 MIR146B KIT JAK2 FGF2

Graphical network of the top 20 diseases related to Myelofibrosis:



Diseases related to Myelofibrosis

Symptoms & Phenotypes for Myelofibrosis

Human phenotypes related to Myelofibrosis:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Hematology:
myeloproliferative disease
reduced hemopoiesis
generalized bone marrow fibrosis
no hemophagocytosis

Clinical features from OMIM®:

254450 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Myelofibrosis according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in HMC1.1 cells GR00105-A-0 8.62 KIT SRC

MGI Mouse Phenotypes related to Myelofibrosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 CALR EPO FGF2 GATA1 INSL6 JAK2
2 immune system MP:0005387 9.97 CD177 EPO GATA1 JAK2 KIT MIR146B
3 respiratory system MP:0005388 9.61 EPO GATA1 JAK2 KIT MEG3 MIR223
4 hematopoietic system MP:0005397 9.5 BMP6 CD177 EPO FGF2 GATA1 JAK2

Drugs & Therapeutics for Myelofibrosis

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

(show top 50) (show all 279)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Panobinostat Approved, Investigational Phase 4 404950-80-7 6918837
2
Lactitol Approved, Investigational Phase 4 585-86-4 157355
3 Histone Deacetylase Inhibitors Phase 4
4 Pharmaceutical Solutions Phase 4
5
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4
6
Pomalidomide Approved Phase 3 19171-19-8 134780
7
Thalidomide Approved, Investigational, Withdrawn Phase 3 50-35-1 5426
8 Orange Approved Phase 3
9
Alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
10
Peginterferon alfa-2b Approved Phase 3 215647-85-1, 99210-65-8
11
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
12
Mycophenolic acid Approved, Investigational Phase 3 24280-93-1 446541
13
Lenograstim Approved, Investigational Phase 3 135968-09-1
14
Apixaban Approved Phase 3 503612-47-3 10182969
15
Acetylsalicylic acid Approved, Vet_approved Phase 3 50-78-2 2244
16
Luspatercept Approved, Investigational Phase 3 1373715-00-4
17
Sodium citrate Approved, Investigational Phase 3 68-04-2 23431961
18
Rivaroxaban Approved Phase 3 366789-02-8 9875401
19
Danazol Approved Phase 3 17230-88-5 28417
20
D-Tyrosine Approved, Experimental, Investigational, Nutraceutical Phase 2, Phase 3 133585-56-5, 60-18-4, 556-02-5 1153 6057
21
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
22
Imetelstat Investigational Phase 3 868169-64-6
23 Angiogenesis Inhibitors Phase 3
24 Interferon alpha-2 Phase 3
25 Interferon-alpha Phase 3
26 Adjuvants, Immunologic Phase 3
27 Anti-Bacterial Agents Phase 3
28 Anti-Infective Agents Phase 3
29 Cyclooxygenase Inhibitors Phase 3
30 Anti-Inflammatory Agents, Non-Steroidal Phase 3
31 Androgens Phase 2, Phase 3
32 Analgesics, Non-Narcotic Phase 3
33 Anti-Inflammatory Agents Phase 3
34 Analgesics Phase 3
35 Antibiotics, Antitubercular Phase 3
36 Antitubercular Agents Phase 3
37 Fibrinolytic Agents Phase 3
38 Antipyretics Phase 3
39 Platelet Aggregation Inhibitors Phase 3
40 Anticoagulants Phase 3
41 Hematinics Phase 3
42 Motesanib diphosphate Phase 3
43 Citrate Phase 3
44 Estrogens Phase 3
45 Estrogen Receptor Antagonists Phase 3
46 Estrogen Antagonists Phase 3
47 Hepcidins Phase 3
48 Janus Kinase Inhibitors Phase 3
49
Everolimus Approved Phase 1, Phase 2 159351-69-6 70789204 6442177
50
Pembrolizumab Approved Phase 2 1374853-91-4 254741536

Interventional clinical trials:

(show top 50) (show all 369)
# 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 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;panobinostat
3 A New Prognostic Stratification-based Safety and Efficacy Study of Ruxolitinib in Myelofibrosis: a Multicenter, Prospective, Single-arm Clinical Study Recruiting NCT05447260 Phase 4 Ruxolitinib
4 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)
5 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
6 INSPIRE: An Internet-based RCT for Long-term Survivors of Hematopoietic Stem Cell Transplantation Completed NCT00799461 Phase 3
7 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
8 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
9 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)
10 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
11 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
12 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
13 Eltrombopag for the Management of Thrombocytopenia Associated With Tyrosine Kinase Therapy in Patients With Chronic Myeloid Leukemia (CML) and Myelofibrosis (MF) Completed NCT01428635 Phase 2, Phase 3 Eltrombopag Olamine
14 Danish Study of Low-dose Interferon Alpha Versus Hydroxyurea in the Treatment of Philadelphia Chromosome Negative (Ph-)Chronic Myeloid Neoplasms. Completed NCT01387763 Phase 3 PegIntron;Pegasys;Hydrea
15 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
16 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
17 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
18 A Randomized, Double-blind, Double-simulated, Parallel-controlled, Multicenter Phase III Study Evaluating the Efficacy and Safety of Jaktinib Versus Hydroxycarbamide in Patients With Intermediate-2 or High-risk Myelofibrosis Recruiting NCT04617028 Phase 3 Jaktinib;Placebo to match Hydroxycarbamide;Hydroxycarbamide Tablets;Placebo to match Jaktinib
19 A Phase 3, Double-blind, Randomized Study to Compare the Efficacy and Safety of Luspatercept (ACE-536) Versus Placebo in Subjects With Myeloproliferative Neoplasm-Associated Myelofibrosis on Concomitant JAK Inhibitor Therapy and Who Require Red Blood Cell Transfusions Recruiting NCT04717414 Phase 3 ACE-536
20 A Randomized Open-Label, Phase 3 Study to Evaluate Imetelstat (GRN163L) Versus Best Available Therapy (BAT) in Patients With Intermediate-2 or High-risk Myelofibrosis (MF) Relapsed / Refractory (R/R) to Janus Kinase (JAK) Inhibitor Recruiting NCT04576156 Phase 3 Imetelstat;Best Available Therapy (BAT)
21 A Randomized, Double-Blind, Placebo-Controlled Study of the PI3Kδ Inhibitor Parsaclisib Plus Ruxolitinib in Participants With Myelofibrosis Who Have Suboptimal Response to Ruxolitinib Recruiting NCT04551053 Phase 3 parsaclisib;ruxolitinib;placebo
22 A Phase 3, Randomized, Double-blind, Active-Control Study of Pelabresib (CPI-0610) and Ruxolitinib vs. Placebo and Ruxolitinib in JAKi Treatment Naive MF Patients Recruiting NCT04603495 Phase 3 Pelabresib;Ruxolitinib;Placebo
23 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study of the Combination of PI3Kδ Inhibitor Parsaclisib and Ruxolitinib in Participants With Myelofibrosis Recruiting NCT04551066 Phase 3 parsaclisib;ruxolitinib;placebo
24 A Phase 2/3 Randomized, Controlled, Open-Label Study of KRT 232 in Subjects With Primary Myelofibrosis (PMF), Post Polycythemia Vera MF (Post-PV-MF), Or Post Essential Thrombocythemia MF (Post-ET-MF) Who Are Relapsed or Refractory to Janus Kinase (JAK) Inhibitor Treatment Recruiting NCT03662126 Phase 2, Phase 3 KRT-232;Best Available Therapy (BAT)
25 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
26 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
27 AVAJAK: Apixaban/Rivaroxaban Versus Aspirin for Primary Prevention of Thrombo-embolic Complications in JAK2V617F-positive Myeloproliferative Neoplasms Recruiting NCT05198960 Phase 3 Direct Oral Anticoagulants;Low-dose aspirin
28 A Randomized, Open-Label, Phase 3 Study Evaluating Efficacy and Safety of Navitoclax in Combination With Ruxolitinib Versus Best Available Therapy in Subjects With Relapsed/Refractory Myelofibrosis (TRANSFORM-2) Recruiting NCT04468984 Phase 3 Navitoclax;Ruxolitinib;Best Available Therapy (BAT)
29 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)
30 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
31 A Phase 3b, Multicenter, Single-Arm, Open-Label Efficacy and Safety Study of Fedratinib 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 Active, not recruiting NCT03755518 Phase 3 FEDRATINIB
32 A Randomized, Double-blind, Phase 3 Study to Evaluate the Activity of Momelotinib (MMB) Versus Danazol (DAN) in Symptomatic, Anemic Subjects With Primary Myelofibrosis (PMF), Post-polycythemia Vera (PV) Myelofibrosis, or Post-essential Thrombocythemia (ET) Myelofibrosis Who Were Previously Treated With JAK Inhibitor Therapy Active, not recruiting NCT04173494 Phase 3 Momelotinib;Danazol;Placebo to match momelotinib;Placebo to match danazol
33 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study Of Navitoclax In Combination With Ruxolitinib Versus Ruxolitinib In Subjects With Myelofibrosis (TRANSFORM-1) Active, not recruiting NCT04472598 Phase 3 Navitoclax;Ruxolitinib;Placebo for Navitoclax
34 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
35 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
36 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
37 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)
38 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
39 An Open-Label Study to Evaluate the Long-Term Effects of Orally Administered SAR302503 in Patients With Primary or Secondary Myelofibrosis Completed NCT00724334 Phase 1, Phase 2 SAR302503 (TG101348)
40 A Phase 2, Prospective Study Of PRM-151 In Subjects With Primary Myelofibrosis (PMF), Post-Polycythemia Vera MF (Post-PV MF), Or Post-Essential Thrombocythemia MF (Post-ET MF) Completed NCT01981850 Phase 2 Ruxolitinib
41 Prevention of DMSO-Related Nausea and Vomiting by Prophylactic Administration of Ondansetron for Patients Receiving Autologous Cryopreserved Peripheral Blood Stem Cells Completed NCT00795769 Phase 2 ondansetron
42 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
43 Low-Dose TBI Dose Escalation to Decrease Risks of Progression and Graft Rejection After Hematopoietic Cell Transplantation With Nonmyeloablative Conditioning as Treatment for Untreated Myelodysplastic Syndrome or Myeloproliferative Disorders - A Multi-Center Trial Completed NCT00397813 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
44 A Phase I/II, Prospective, Open-Label Study to Determine the Safety and Efficacy of CC-4047 in Patients With Primary, Post Polycythemia Vera, or Post Essential Thrombocythemia Myelofibrosis® Completed NCT00669578 Phase 1, Phase 2 CC-4047
45 Evaluation of Ruxolitinib and Pracinostat Combination as a Therapy for Patients With Myelofibrosis Completed NCT02267278 Phase 2 Ruxolitinib;Pracinostat
46 Phase 1/2 Randomized Trial Combination of Ruxolitinib and Peg-interferon Alpha-2a in Patients With Primary Myelofibrosis Post-polycythemia Vera-myelofibrosis or Post-essential Thrombocythemia-myelofibrosis Completed NCT02742324 Phase 1, Phase 2 Ruxolotinib;peg-IFN alpha -2a
47 Phase II Clinical Trial of the Use of Post-Transplant Cyclophosphamide for Graft Versus Host Disease (GvHD) Prophylaxis Following Matched Unrelated Donor (MUD) and Mismatched Unrelated Donor (MMUD)Hematopoietic Stem Cell Transplant (HSCT) Completed NCT02065154 Phase 2 Cyclophosphamide
48 A Phase II Study to Evaluate the Efficacy of Oral Beclomethasone Dipropionate for Prevention of Acute GVHD After Hematopoietic Cell Transplantation With Myeloablative Conditioning Regimens Completed NCT00489203 Phase 2 beclomethasone dipropionate;placebo;tacrolimus;methotrexate
49 Allogeneic Stem Cell Transplantation for Myelofibrosis and Myelodysplastic Syndrome Using Reduced Intensity Busulfan and Fludarabine Conditioning Completed NCT00475020 Phase 2 Busulfan;Fludarabine;Thymoglobulin (ATG)
50 A Phase 2 Study of the Safety, Tolerability, and Efficacy of INCB050465 in Combination With Ruxolitinib in Subjects With Myelofibrosis Completed NCT02718300 Phase 2 Parsaclisib;Ruxolitinib

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

Genetic Tests for Myelofibrosis

Genetic tests related to Myelofibrosis:

# Genetic test Affiliating Genes
1 Myelofibrosis 28 CALR JAK2 MPL SH2B3
2 Primary Myelofibrosis 28

Anatomical Context for Myelofibrosis

Organs/tissues related to Myelofibrosis:

MalaCards : Bone Marrow, Myeloid, Bone, Spleen, Liver, T Cells, Kidney

Publications for Myelofibrosis

Articles related to Myelofibrosis:

(show top 50) (show all 8552)
# Title Authors PMID Year
1
MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. 62 57 5
16868251 2006
2
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. 62 57 5
16834459 2006
3
A gain-of-function mutation of JAK2 in myeloproliferative disorders. 62 57 5
15858187 2005
4
Neuropathy of haematopoietic stem cell niche is essential for myeloproliferative neoplasms. 57 5
25043017 2014
5
Mesenchymal and haematopoietic stem cells form a unique bone marrow niche. 57 5
20703299 2010
6
Haematopoietic stem cell release is regulated by circadian oscillations. 57 5
18256599 2008
7
Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis. 53 62 5
20151976 2010
8
New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition. 53 62 5
18528423 2008
9
V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis. 53 62 5
16293597 2006
10
The JAK2 V617F mutation in de novo acute myelogenous leukemias. 53 62 5
16247455 2006
11
Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. 53 62 5
16325696 2005
12
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. 53 62 57
15781101 2005
13
Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis. 62 5
24986690 2014
14
JAK inhibitor in CALR-mutant myelofibrosis. 62 57
24645956 2014
15
JAK inhibitor in CALR-mutant myelofibrosis. 62 57
24645955 2014
16
Somatic mutations of calreticulin in myeloproliferative neoplasms. 62 5
24325356 2013
17
Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. 62 5
24325359 2013
18
Familial idiopathic myelofibrosis and multiple hemangiomas. 62 57
9766805 1998
19
Familial myelofibrosis. 62 57
7436463 1980
20
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
21
Effect of mutation order on myeloproliferative neoplasms. 5
25671252 2015
22
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 5
25157968 2014
23
Interferon alfa therapy in CALR-mutated essential thrombocythemia. 57
25006741 2014
24
MPN patients harbor recurrent truncating mutations in transcription factor NF-E2. 57
23589569 2013
25
A novel murine model of myeloproliferative disorders generated by overexpression of the transcription factor NF-E2. 57
22231305 2012
26
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. 5
21489838 2011
27
Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. 5
20404132 2010
28
MicroRNA expression profiling of megakaryocytes in primary myelofibrosis and essential thrombocythemia. 62 46
19811223 2009
29
Mutation in TET2 in myeloid cancers. 57
19474426 2009
30
The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome. 5
19293426 2009
31
No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage. 5
19036091 2009
32
JAK2 V617F mutation in unexplained loss of first pregnancy. 5
17989398 2007
33
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. 5
16762626 2006
34
Case records of the Massachusetts General Hospital. Case 15-2006. A 46-year-old woman with sudden onset of abdominal distention. 5
16707754 2006
35
The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. 5
16603627 2006
36
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. 5
16470591 2006
37
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. 5
15793561 2005
38
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. 53 62
20113333 2010
39
Postsplenectomy sclerosing extramedullary hematopoietic tumor with unexpected good clinical evolution: morphologic, immunohistochemical, and molecular analysis of one case and review of the literature. 53 62
20042850 2010
40
Efficacy of the JAK2 inhibitor INCB16562 in a murine model of MPLW515L-induced thrombocytosis and myelofibrosis. 53 62
20154217 2010
41
Therapeutic potential of Janus-activated kinase-2 inhibitors for the management of myelofibrosis. 53 62
20215535 2010
42
Mutational analysis in BCR-ABL-negative classic myeloproliferative neoplasms: impact on prognosis and therapeutic choices. 53 62
20214447 2010
43
JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms. 53 62
19643476 2010
44
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. 53 62
19274616 2010
45
Therapy of myelofibrosis (excluding JAK2 inhibitors). 53 62
20178012 2010
46
Phase 2 study of CEP-701, an orally available JAK2 inhibitor, in patients with primary or post-polycythemia vera/essential thrombocythemia myelofibrosis. 53 62
20008298 2010
47
Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycythemia vera patient carrying the JAK2 V617F mutation. 53 62
20013324 2010
48
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. 53 62
19847199 2010
49
Peripheral T-cell lymphoma presenting as myelofibrosis with the expression of basic fibroblast growth factor. 53 62
20002760 2009
50
Identification of a novel inhibitor of JAK2 tyrosine kinase by structure-based virtual screening. 53 62
19447617 2009

Variations for Myelofibrosis

ClinVar genetic disease variations for Myelofibrosis:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MPL NM_005373.3(MPL):c.1543_1544delinsAA (p.Trp515Lys) INDEL Pathogenic
14165 rs121913616 GRCh37: 1:43815008-43815009
GRCh38: 1:43349337-43349338
2 SH2B3 NM_005475.3(SH2B3):c.603_607del (p.Arg202fs) DEL Pathogenic
30444 rs587776885 GRCh37: 12:111856549-111856553
GRCh38: 12:111418745-111418749
3 CALR NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) DEL Pathogenic
97006 rs1555760738 GRCh37: 19:13054565-13054616
GRCh38: 19:12943751-12943802
4 MPL NM_005373.3(MPL):c.1653+1del DEL Pathogenic
632897 rs755257605 GRCh37: 1:43817974-43817974
GRCh38: 1:43352303-43352303
5 MPL NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) SNV Pathogenic
14164 rs121913615 GRCh37: 1:43815009-43815009
GRCh38: 1:43349338-43349338
6 MPL NM_005373.3(MPL):c.79+2T>A SNV Pathogenic
Pathogenic
135563 rs146249964 GRCh37: 1:43803600-43803600
GRCh38: 1:43337929-43337929
7 JAK2, INSL6 NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) SNV Pathogenic
Pathogenic/Likely Pathogenic
Likely Pathogenic
14662 rs77375493 GRCh37: 9:5073770-5073770
GRCh38: 9:5073770-5073770
8 SRC NM_198291.3(SRC):c.1579G>A (p.Glu527Lys) SNV Likely Pathogenic
225689 rs879255268 GRCh37: 20:36031750-36031750
GRCh38: 20:37403347-37403347
9 overlap with 9 genes NC_000014.8:g.96163103_96857129dup DUP Likely Pathogenic
208237 GRCh37: 14:96163103-96857129
GRCh38: 14:95696766-96390792
10 MPL NM_005373.3(MPL):c.1514G>A (p.Ser505Asn) SNV Likely Pathogenic
14163 rs121913614 GRCh37: 1:43814979-43814979
GRCh38: 1:43349308-43349308
11 SH2B3 NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) SNV Uncertain Significance
501686 rs72650673 GRCh37: 12:111885310-111885310
GRCh38: 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:

6 (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 EEIG2 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 NOTCH2NLA Myelofibrosis
20 18948 1 148000000 149600000 Amplification without LOH Myelofibrosis
21 18949 1 148000000 149600000 Amplification without LOH NBPF15 Myelofibrosis
22 18952 1 148000000 149600000 Deletion without LOH FCGR1CP 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 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 CCDC190 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 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 PRRC2C Myelofibrosis
49 23060 1 171200000 174300000 Deletion without LOH DNM3 Myelofibrosis
50 23061 1 171200000 174300000 Deletion without LOH SLC9C2 Myelofibrosis

Expression for Myelofibrosis

Search GEO for disease gene expression data for Myelofibrosis.

Pathways for Myelofibrosis

Pathways related to Myelofibrosis according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.3 THPO SRC MPL KIT JAK2 FGF2
2
Show member pathways
12.92 THPO SRC SH2B3 MPL MPIG6B JAK2
3 12.59 SRC SH2B3 KIT JAK2 FGF2
4 12.37 MPL KIT JAK2 GATA1
5
Show member pathways
12.2 THPO SRC KIT JAK2 FGF2 EPO
6 11.88 SRC KIT JAK2 FGF2
7 11.77 SRC KIT JAK2
8 11.72 THPO MPL JAK2
9
Show member pathways
11.68 THPO SRC MPL
10 11.67 SRC JAK2 FGF2
11
Show member pathways
11.66 SRC SH2B3 KIT JAK2
12
Show member pathways
11.65 SH2B3 JAK2 EPO
13 11.6 THPO KIT FGF2 BMP6
14
Show member pathways
11.42 SRC SH2B3 KIT JAK2 EPO
15 11.29 EPO FGF2 KIT
16 11.09 THPO SH2B3 MPL KIT EPO
17 10.85 SRC FGF2
18 10.71 SRC JAK2

GO Terms for Myelofibrosis

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of MAPK cascade GO:0043410 10.19 THPO KIT JAK2 FGF2
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 10.11 SRC JAK2 GATA1 BMP6
3 positive regulation of gene expression GO:0010628 10.1 BMP6 CALR CDKN2B-AS1 FGF2 KIT MIR223
4 positive regulation of cell population proliferation GO:0008284 10.1 BMP6 CALR EPO FGF2 JAK2 KIT
5 cellular response to lipopolysaccharide GO:0071222 10.09 THPO SRC MIR223 JAK2 GATA1
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 10.06 FGF2 JAK2 KIT SRC
7 positive regulation of vascular associated smooth muscle cell proliferation GO:1904707 10.03 SRC JAK2 FGF2
8 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 10.01 SRC KIT FGF2
9 cell population proliferation GO:0008283 9.97 THPO SRC KIT GATA1 FGF2
10 neutrophil homeostasis GO:0001780 9.89 SH2B3 MPL
11 myeloid cell apoptotic process GO:0033028 9.88 GATA1 EPO
12 cellular response to interleukin-3 GO:0036016 9.87 SH2B3 JAK2
13 erythropoietin-mediated signaling pathway GO:0038162 9.85 EPO KIT
14 monocyte homeostasis GO:0035702 9.83 SH2B3 MPL
15 megakaryocyte differentiation GO:0030219 9.8 THPO MPIG6B GATA1
16 myeloid cell differentiation GO:0030099 9.78 TET2 JAK2 GATA1
17 negative regulation of myeloid cell apoptotic process GO:0033033 9.77 GATA1 EPO
18 embryonic hemopoiesis GO:0035162 9.77 SH2B3 KIT GATA1
19 thrombopoietin-mediated signaling pathway GO:0038163 9.63 THPO SH2B3 MPL
20 megakaryocyte development GO:0035855 9.56 THPO SH2B3 MPIG6B KIT
21 erythrocyte differentiation GO:0030218 9.32 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 9.56 SRC FGF2 CD177 CALR
2 SH2 domain binding GO:0042169 9.1 SRC KIT JAK2

Sources for Myelofibrosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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