MYELOF
MCID: MYL005
MIFTS: 70

Myelofibrosis (MYELOF)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Myelofibrosis

MalaCards integrated aliases for Myelofibrosis:

Name: Myelofibrosis 57 12 73 72 36 29 54 6 15 37 39 70
Primary Myelofibrosis 12 20 43 58 54 44 17 70
Agnogenic Myeloid Metaplasia 12 20 43 58 72 54
Myelofibrosis with Myeloid Metaplasia 43 58 72 29 6
Idiopathic Myelofibrosis 20 43 58 72 54
Myeloid Metaplasia 20 43 54 70
Osteomyelofibrosis 58 70 32
Myelofibrosis with Myeloid Metaplasia, Somatic 57 13
Megakaryocytic Myelosclerosis 12 70
Myelosclerosis 12 72
Agnogenic Myeloid Metaplasia with Myelofibrosis 72
Myelosclerosis with Myeloid Metaplasia 72
Chronic Idiopathic Myelofibrosis 43
Myelofibrosis, Somatic 57
Bone Marrow Fibrosis 12
Aleukemic Myelosis 12
Myelof 72
Ammm 72
Mmm 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
somatic mutation

Miscellaneous:
onset first weeks of life


HPO:

31
myelofibrosis:
Inheritance somatic mutation


Classifications:

Orphanet: 58  
Rare haematological diseases


Summaries for Myelofibrosis

MedlinePlus Genetics : 43 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 polycythemia vera. 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 Panobinostat and Lactitol have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and myeloid, 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.

GARD : 20 Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the spongy tissue tissue inside the bone (bone marrow), the tissue that contains the stem cells that will produce blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal 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 : 72 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 : 73 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 634)
# Related Disease Score Top Affiliating Genes
1 myeloproliferative neoplasm 32.5 THPO TET2 SH2B3 MPL KIT JAK2
2 polycythemia vera 32.5 THPO TET2 SRC MPL KIT JAK2
3 essential thrombocythemia 32.4 THPO TET2 SRC SH2B3 MPL MIR223
4 splenomegaly 32.3 MPL JAK2 INSL6 EPO
5 acute megakaryocytic leukemia 32.3 THPO MPL KIT JAK2 GATA1
6 polycythemia 32.1 THPO TET2 SH2B3 MPL JAK2 INSL6
7 thrombocytopenia 31.8 THPO SRC MPL MPIG6B KIT JAK2
8 pancytopenia 31.8 THPO MPL MPIG6B KIT EPO
9 thrombocytosis 31.8 THPO TET2 SH2B3 MPL JAK2 EPO
10 acute leukemia 31.6 THPO MPL KIT JAK2 GATA1 EPO
11 leukemia 31.6 THPO TET2 MPL KIT JAK2 CDKN2B-AS1
12 myelodysplastic syndrome 31.5 THPO TET2 SH2B3 MPL MEG3 KIT
13 deficiency anemia 31.5 THPO SH2B3 MPL KIT JAK2 GATA1
14 neutropenia 31.4 THPO MPL EPO CD177
15 leukemia, acute myeloid 31.3 WT1-AS THPO TET2 SRC MPL MIR223
16 leukemia, chronic myeloid 31.3 THPO SRC MPL MIR223 MEG3 KIT
17 myeloma, multiple 31.2 TET2 SRC SH2B3 MEG3 KIT JAK2
18 chronic myelomonocytic leukemia 31.2 TET2 MPL KIT JAK2 CALR
19 refractory anemia 31.2 TET2 MPL JAK2 EPO
20 mastocytosis 31.1 TET2 KIT JAK2
21 systemic mastocytosis 31.0 TET2 KIT JAK2
22 leukemia, acute lymphoblastic 31.0 THPO SRC MPL MIR223 KIT JAK2
23 aplastic anemia 30.9 THPO TET2 MPL GATA1 FGF2 EPO
24 acute erythroid leukemia 30.9 JAK2 GATA1 EPO
25 paroxysmal nocturnal hemoglobinuria 30.8 THPO MPL EPO
26 budd-chiari syndrome 30.8 MPL JAK2 INSL6 CALR
27 portal vein thrombosis 30.7 MPL JAK2 CALR
28 hematologic cancer 30.7 THPO MPL MIR223 MIR146B KIT JAK2
29 hypersplenism 30.7 THPO EPO BMP6
30 thrombocythemia 1 30.6 THPO SH2B3 MPL CALR
31 acute promyelocytic leukemia 30.6 THPO SRC MIR223 GATA1 CALR
32 acquired polycythemia 30.6 MPL JAK2 EPO CD177
33 myelophthisic anemia 30.5 SH2B3 MPL JAK2 EPO CALR
34 myelodysplastic/myeloproliferative neoplasm 30.5 TET2 KIT JAK2
35 chronic eosinophilic leukemia 30.5 TET2 KIT JAK2
36 splenic sequestration 30.3 THPO MPL EPO
37 thrombocythemia 3 30.2 JAK2 INSL6
38 chronic leukemia 30.2 TET2 KIT JAK2
39 blood platelet disease 30.2 THPO TET2 MPL KIT JAK2 GATA1
40 diamond-blackfan anemia 30.2 THPO MPL JAK2 GATA1 EPO
41 glioma 30.1 MIR146B MEG3 FGF2 CDKN2B-AS1
42 acquired von willebrand syndrome 30.1 JAK2 CALR
43 ovarian cancer 29.7 SRC MIR223 MIR146B MEG3 KIT JAK2
44 acute panmyelosis with myelofibrosis 11.6
45 thrombocytopenia, anemia, and myelofibrosis 11.4
46 thrombocytopenia 6 11.3
47 gray platelet syndrome 11.3
48 cellular phase chronic idiopathic myelofibrosis 11.1
49 specific granule deficiency 2 11.0
50 neutropenia, severe congenital, 5, autosomal recessive 10.9

Graphical network of the top 20 diseases related to Myelofibrosis:



Diseases related to Myelofibrosis

Symptoms & Phenotypes for Myelofibrosis

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®:

57 (Updated 05-Apr-2021)
Hematology:
myeloproliferative disease
reduced hemopoiesis
generalized bone marrow fibrosis
no hemophagocytosis

Clinical features from OMIM®:

254450 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Myelofibrosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.93 CALR EPO FGF2 GATA1 INSL6 JAK2
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

Drugs & Therapeutics for Myelofibrosis

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

(show top 50) (show all 338)
# 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
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
5
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
6
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
7
Palivizumab Approved, Investigational Phase 3 188039-54-5
8
Ribavirin Approved Phase 3 36791-04-5 37542
9
Dalteparin Approved Phase 3 9005-49-6
10
Tinzaparin Approved Phase 3 9041-08-1, 9005-49-6 25244225
11
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
12
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
13
Itraconazole Approved, Investigational Phase 3 84625-61-6 55283
14
Acyclovir Approved Phase 3 59277-89-3 2022
15
Caspofungin Approved Phase 3 179463-17-3, 162808-62-0 468682 2826718
16
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
17
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
18 Orange Approved Phase 3
19
Thalidomide Approved, Investigational, Withdrawn Phase 3 50-35-1 5426
20
Sodium citrate Approved, Investigational Phase 3 68-04-2
21
Hydroxyurea Approved Phase 3 127-07-1 3657
22
Danazol Approved Phase 3 17230-88-5 28417
23
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
24
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
25
Polyestradiol phosphate Approved Phase 3 28014-46-2
26
Moxifloxacin Approved, Investigational Phase 3 354812-41-2, 151096-09-2 152946
27
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
28
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
29
Mercaptopurine Approved Phase 3 50-44-2 667490
30
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
31
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
32
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
33
Tyrosine Approved, Investigational, Nutraceutical Phase 2, Phase 3 60-18-4 6057
34 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
35
Navitoclax Investigational Phase 3 923564-51-6
36
Imetelstat Investigational Phase 3 868169-64-6
37 Antiviral Agents Phase 3
38 Interferon-alpha Phase 3
39 Anesthetics, Dissociative Phase 3
40 Interferon alpha-2 Phase 3
41 Cola Phase 3
42 Heparin, Low-Molecular-Weight Phase 3
43 Neurotransmitter Agents Phase 3
44 Narcotics Phase 3
45 Excitatory Amino Acid Antagonists Phase 3
46 Analgesics, Opioid Phase 3
47 Cytochrome P-450 CYP3A Inhibitors Phase 3
48
Hydroxyitraconazole Phase 3 108222
49 valacyclovir Phase 3
50 Psychotropic Drugs Phase 3

Interventional clinical trials:

(show top 50) (show all 433)
# 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 tablets or oral pediatric formulation, panobinostat capsules;ruxolitinib tablets or oral pediatric formulation
3 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
4 Danish Study of Low-dose Interferon Alpha Versus Hydroxyurea in the Treatment of Philadelphia Chromosome Negative (Ph-)Chronic Myeloid Neoplasms. Unknown status NCT01387763 Phase 3 PegIntron;Pegasys;PegIntron;Pegasys;Hydrea
5 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
6 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
7 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
8 Phase III Study of Captopril in Patients Undergoing Autologous Bone Marrow/Stem Cell Transplantation Completed NCT00004230 Phase 3 captopril;cyclophosphamide
9 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
10 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
11 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
12 Does Hypericum Reduce Fatigue in Cancer Patients on Chemotherapy? A Randomized, Double-Blind, Placebo-Controlled Clinical Trial Completed NCT00005805 Phase 3
13 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
14 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
15 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
16 Music Video and Adolescent/Young Adult Resilience During Transplant Completed NCT00305851 Phase 3
17 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
18 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
19 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
20 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
21 HSCT-CHESS to Enhance Hematopoietic Transplant Recovery Completed NCT00782145 Phase 3
22 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
23 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
24 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)
25 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
26 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
27 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
28 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
29 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)
30 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
31 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
32 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
33 INSPIRE: An Internet-based RCT for Long-term Survivors of Hematopoietic Stem Cell Transplantation Completed NCT00799461 Phase 3
34 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)
35 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
36 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 Including a Sub-study With Concomitant Luspatercept for Subjects With Anemia Recruiting NCT03755518 Phase 3 FEDRATINIB;Luspatercept
37 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
38 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)
39 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)
40 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) Refractory to Janus Kinase (JAK)-Inhibitor Recruiting NCT04576156 Phase 3 Imetelstat;Best Available Therapy (BAT)
41 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study Of Navitoclax In Combination With Ruxolitinib Versus Ruxolitinib In Subjects With Myelofibrosis (TRANSFORM-1) Recruiting NCT04472598 Phase 3 Navitoclax;Ruxolitinib;Placebo for Navitoclax
42 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
43 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
44 A Phase 3, Randomized, Double-blind, Active-Control Study of CPI-0610 and Ruxolitinib vs. Placebo and Ruxolitinib in JAKi Treatment Naive MF Patients Recruiting NCT04603495 Phase 3 CPI-0610;Ruxolitinib;Placebo
45 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
46 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 JAK2 Inhibitor Therapy and Who Require Red Blood Cell Transfusions Recruiting NCT04717414 Phase 3 ACE-536
47 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
48 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
49 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
50 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

Search NIH Clinical Center for Myelofibrosis

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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 29 CALR JAK2 MPL SH2B3
2 Myelofibrosis with Myeloid Metaplasia 29

Anatomical Context for Myelofibrosis

MalaCards organs/tissues related to Myelofibrosis:

40
Bone Marrow, Bone, Myeloid, Spleen, Liver, Endothelial, Neutrophil

Publications for Myelofibrosis

Articles related to Myelofibrosis:

(show top 50) (show all 6855)
# Title Authors PMID Year
1
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. 54 61 57 6
15781101 2005
2
MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. 57 6 61
16868251 2006
3
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. 6 61 57
16834459 2006
4
A gain-of-function mutation of JAK2 in myeloproliferative disorders. 6 57 61
15858187 2005
5
Neuropathy of haematopoietic stem cell niche is essential for myeloproliferative neoplasms. 6 57
25043017 2014
6
Mesenchymal and haematopoietic stem cells form a unique bone marrow niche. 57 6
20703299 2010
7
Haematopoietic stem cell release is regulated by circadian oscillations. 6 57
18256599 2008
8
Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis. 6 54 61
20151976 2010
9
New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition. 6 54 61
18528423 2008
10
V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis. 54 6 61
16293597 2006
11
The JAK2 V617F mutation in de novo acute myelogenous leukemias. 6 54 61
16247455 2006
12
Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. 54 6 61
16325696 2005
13
Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis. 6 61
24986690 2014
14
JAK inhibitor in CALR-mutant myelofibrosis. 61 57
24645955 2014
15
JAK inhibitor in CALR-mutant myelofibrosis. 57 61
24645956 2014
16
Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. 61 6
24325359 2013
17
Somatic mutations of calreticulin in myeloproliferative neoplasms. 61 6
24325356 2013
18
Familial idiopathic myelofibrosis and multiple hemangiomas. 61 57
9766805 1998
19
Familial myelofibrosis. 61 57
7436463 1980
20
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
21
Effect of mutation order on myeloproliferative neoplasms. 6
25671252 2015
22
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 6
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. 6
21489838 2011
27
Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. 6
20404132 2010
28
MicroRNA expression profiling of megakaryocytes in primary myelofibrosis and essential thrombocythemia. 61 47
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. 6
19293426 2009
31
No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage. 6
19036091 2009
32
JAK2 V617F mutation in unexplained loss of first pregnancy. 6
17989398 2007
33
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. 6
16762626 2006
34
Case records of the Massachusetts General Hospital. Case 15-2006. A 46-year-old woman with sudden onset of abdominal distention. 6
16707754 2006
35
The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. 6
16603627 2006
36
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. 6
16470591 2006
37
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. 6
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. 54 61
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. 54 61
20042850 2010
40
Therapeutic potential of Janus-activated kinase-2 inhibitors for the management of myelofibrosis. 54 61
20215535 2010
41
Efficacy of the JAK2 inhibitor INCB16562 in a murine model of MPLW515L-induced thrombocytosis and myelofibrosis. 54 61
20154217 2010
42
Mutational analysis in BCR-ABL-negative classic myeloproliferative neoplasms: impact on prognosis and therapeutic choices. 61 54
20214447 2010
43
Therapy of myelofibrosis (excluding JAK2 inhibitors). 54 61
20178012 2010
44
JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms. 61 54
19643476 2010
45
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
46
Phase 2 study of CEP-701, an orally available JAK2 inhibitor, in patients with primary or post-polycythemia vera/essential thrombocythemia myelofibrosis. 61 54
20008298 2010
47
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. 61 54
19847199 2010
48
Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycythemia vera patient carrying the JAK2 V617F mutation. 54 61
20013324 2010
49
Peripheral T-cell lymphoma presenting as myelofibrosis with the expression of basic fibroblast growth factor. 54 61
20002760 2009
50
Identification of a novel inhibitor of JAK2 tyrosine kinase by structure-based virtual screening. 61 54
19447617 2009

Variations for Myelofibrosis

ClinVar genetic disease variations for Myelofibrosis:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SH2B3 NM_005475.2(SH2B3):c.603_607del (p.Arg202fs) Deletion Pathogenic 30444 rs587776885 GRCh37: 12:111856549-111856553
GRCh38: 12:111418745-111418749
2 MPL NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) SNV Pathogenic 14164 rs121913615 GRCh37: 1:43815009-43815009
GRCh38: 1:43349338-43349338
3 MPL NM_005373.2(MPL):c.1543_1544delinsAA (p.Trp515Lys) Indel Pathogenic 14165 rs121913616 GRCh37: 1:43815008-43815009
GRCh38: 1:43349337-43349338
4 CALR NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) Deletion Pathogenic 97006 rs1555760738 GRCh37: 19:13054565-13054616
GRCh38: 19:12943751-12943802
5 JAK2 , INSL6 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) SNV Pathogenic 14662 rs77375493 GRCh37: 9:5073770-5073770
GRCh38: 9:5073770-5073770
6 MPL NM_005373.3(MPL):c.79+2T>A SNV Pathogenic 135563 rs146249964 GRCh37: 1:43803600-43803600
GRCh38: 1:43337929-43337929
7 MPL NM_005373.3(MPL):c.79+2T>A SNV Pathogenic 135563 rs146249964 GRCh37: 1:43803600-43803600
GRCh38: 1:43337929-43337929
8 JAK2 , INSL6 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) SNV Pathogenic/Likely pathogenic 14662 rs77375493 GRCh37: 9:5073770-5073770
GRCh38: 9:5073770-5073770
9 JAK2 , INSL6 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) SNV Likely pathogenic 14662 rs77375493 GRCh37: 9:5073770-5073770
GRCh38: 9:5073770-5073770
10 overlap with 9 genes NC_000014.8:g.96163103_96857129dup Duplication Likely pathogenic 208237 GRCh37: 14:96163103-96857129
GRCh38: 14:95696766-96390792
11 MPL NM_005373.2(MPL):c.1514G>A (p.Ser505Asn) SNV Likely pathogenic 14163 rs121913614 GRCh37: 1:43814979-43814979
GRCh38: 1:43349308-43349308
12 SRC NM_005417.4(SRC):c.1579G>A (p.Glu527Lys) SNV Likely pathogenic 225689 rs879255268 GRCh37: 20:36031750-36031750
GRCh38: 20:37403347-37403347
13 SH2B3 NM_001291424.1(SH2B3):c.592G>A (p.Glu198Lys) SNV Uncertain significance 501686 rs72650673 GRCh37: 12:111885310-111885310
GRCh38: 12:111447506-111447506

UniProtKB/Swiss-Prot genetic disease variations for Myelofibrosis:

72
# 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 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 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
Show member pathways
13.35 THPO SRC MPL KIT JAK2 FGF2
2
Show member pathways
13.08 THPO SRC SH2B3 MPL MPIG6B JAK2
3
Show member pathways
12.19 THPO SRC KIT FGF2 BMP6
4
Show member pathways
12.16 THPO SRC MPL JAK2 EPO
5 11.9 SRC KIT JAK2 FGF2
6 11.71 THPO KIT EPO
7
Show member pathways
11.69 THPO SRC MPL
8
Show member pathways
11.61 SRC SH2B3 JAK2 EPO
9
Show member pathways
11.56 SRC SH2B3 KIT JAK2 EPO
10 11.54 THPO KIT FGF2 BMP6
11 11.33 KIT FGF2 EPO
12
Show member pathways
11.28 SRC JAK2 EPO
13 11.09 THPO SH2B3 MPL KIT EPO
14 10.54 SRC SH2B3 KIT

GO Terms for Myelofibrosis

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 26)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.22 THPO SRC SH2B3 KIT JAK2 INSL6
2 cytokine-mediated signaling pathway GO:0019221 9.91 MPL KIT JAK2 FGF2
3 positive regulation of cell proliferation GO:0008284 9.91 THPO KIT JAK2 FGF2 EPO CALR
4 positive regulation of gene expression GO:0010628 9.87 SRC MIR223 KIT FGF2 CDKN2B-AS1 CALR
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.86 THPO SRC FGF2 EPO
6 positive regulation of protein kinase B signaling GO:0051897 9.83 THPO SRC KIT FGF2
7 blood coagulation GO:0007596 9.8 SH2B3 MPIG6B JAK2 GATA1 CD177
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.76 SRC JAK2 GATA1 BMP6
9 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.75 KIT JAK2 EPO
10 positive regulation of MAP kinase activity GO:0043406 9.71 SRC KIT FGF2
11 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.67 SRC KIT FGF2
12 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.65 SRC KIT JAK2 FGF2 EPO
13 platelet formation GO:0030220 9.63 MPIG6B GATA1
14 positive regulation of SMAD protein signal transduction GO:0060391 9.62 JAK2 BMP6
15 positive regulation of DNA biosynthetic process GO:2000573 9.61 SRC FGF2
16 embryonic hemopoiesis GO:0035162 9.61 SH2B3 KIT GATA1
17 cellular response to thyroid hormone stimulus GO:0097067 9.6 KIT GATA1
18 positive regulation of phospholipase C activity GO:0010863 9.59 KIT FGF2
19 negative regulation of fibroblast migration GO:0010764 9.58 MIR146B FGF2
20 megakaryocyte differentiation GO:0030219 9.57 MPIG6B GATA1
21 neutrophil homeostasis GO:0001780 9.55 SH2B3 MPL
22 erythropoietin-mediated signaling pathway GO:0038162 9.51 KIT EPO
23 monocyte homeostasis GO:0035702 9.48 SH2B3 MPL
24 thrombopoietin-mediated signaling pathway GO:0038163 9.33 THPO SH2B3 MPL
25 megakaryocyte development GO:0035855 9.26 THPO SH2B3 MPIG6B KIT
26 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 BMP receptor binding GO:0070700 9.26 SRC BMP6
3 integrin binding GO:0005178 9.26 SRC FGF2 CD177 CALR
4 SH2 domain binding GO:0042169 8.8 SRC KIT JAK2

Sources for Myelofibrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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