MCID: MYL005
MIFTS: 75

Myelofibrosis

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

Aliases & Classifications for Myelofibrosis

MalaCards integrated aliases for Myelofibrosis:

Name: Myelofibrosis 53 37 12 72 49 71 36 28 51 14 69
Primary Myelofibrosis 12 49 24 55 51 41 69
Agnogenic Myeloid Metaplasia 12 49 24 55 71 51
Idiopathic Myelofibrosis 49 24 55 71 51
Myeloid Metaplasia 49 24 51 69
Myelofibrosis with Myeloid Metaplasia 24 55 71
Myelofibrosis with Myeloid Metaplasia, Somatic 53 13
Megakaryocytic Myelosclerosis 12 69
Osteomyelofibrosis 55 69
Myelosclerosis 12 71
Agnogenic Myeloid Metaplasia with Myelofibrosis 71
Myelosclerosis with Myeloid Metaplasia 71
Chronic Idiopathic Myelofibrosis 24
Myelofibrosis, Somatic 53
Bone Marrow Fibrosis 12
Aleukemic Myelosis 12
Myelof 71
Ammm 71
Mmm 71

Characteristics:

Orphanet epidemiological data:

55
primary myelofibrosis
Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

OMIM:

53
Inheritance:
somatic mutation

Miscellaneous:
onset first weeks of life


HPO:

31

Classifications:



External Ids:

OMIM 53 254450
Disease Ontology 12 DOID:4971
ICD10 32 D47.4 D75.81
ICD9CM 34 238.76 289.83
NCIt 46 C2862 C3248
Orphanet 55 ORPHA824
UMLS via Orphanet 70 C0026987 C0001815
ICD10 via Orphanet 33 D47.4
KEGG 36 H01605

Summaries for Myelofibrosis

NIH Rare Diseases : 49 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.    Last updated: 6/13/2017

MalaCards based summary : Myelofibrosis, also known as primary myelofibrosis, is related to megakaryocytic leukemia and myeloproliferative neoplasm, and has symptoms including myeloproliferative disorder 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 ERK Signaling. The drugs Bupivacaine and Hyaluronic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are hematopoietic system and cellular

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 24 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.

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

Wikipedia : 72 Myelofibrosis, also known as osteomyelofibrosis, is a relatively rare bone marrow cancer. It is... more...

Description from OMIM: 254450

Related Diseases for Myelofibrosis

Diseases in the Myelofibrosis family:

Familial Myelofibrosis

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

(show top 50) (show all 248)
# Related Disease Score Top Affiliating Genes
1 megakaryocytic leukemia 32.6 GATA1 JAK2 THPO
2 myeloproliferative neoplasm 31.9 CALR JAK2 MPL SH2B3 STAT5B TET2
3 splenomegaly 31.3 EPO JAK2 MPL
4 polycythemia 31.1 CALR CD177 EPO JAK2 MPL STAT5A
5 essential thrombocythemia 31.0 CALR CD177 EPO GATA1 IFNA1 JAK2
6 thrombocytosis 30.9 EPO JAK2 MPL TET2 THPO
7 pancytopenia 30.8 EPO MPL THPO
8 chronic myelomonocytic leukemia 30.6 FLT3 JAK2 KIT TET2
9 refractory anemia 30.4 EPO JAK2 MPL TET2
10 systemic mastocytosis 30.4 JAK2 KIT TET2
11 polycythemia vera 30.3 CALR CD177 EPO HMGA2 IFNA1 JAK2
12 myelodysplastic syndrome 30.3 EPO FLT3 GATA1 JAK2 KIT MPL
13 leukemia, acute myeloid 30.1 FLT3 GATA1 JAK2 KIT MPL STAT5A
14 budd-chiari syndrome 30.1 CALR JAK2 MPL
15 ureteral obstruction 30.1 BMP6 EPO TGFB1
16 chronic eosinophilic leukemia 30.0 FLT3 IFNA1 KIT
17 aplastic anemia 29.7 EPO FLT3 GATA1 MPL TET2 THPO
18 leukemia, chronic myeloid 29.2 CD177 EPO FLT3 IFNA1 JAK2 KIT
19 renal cell carcinoma, nonpapillary 29.2 FGF2 FLT3 IFNA1 KIT
20 acute panmyelosis with myelofibrosis 12.5
21 thrombocytopenia, anemia, and myelofibrosis 12.2
22 familial myelofibrosis 12.1
23 cellular phase chronic idiopathic myelofibrosis 11.9
24 thrombocytopenia 6 11.6
25 gray platelet syndrome 11.5
26 specific granule deficiency 2 11.0
27 neutropenia, severe congenital, 5, autosomal recessive 10.9
28 bleeding disorder, platelet-type, 17 10.9
29 folic acid deficiency anemia 10.7 EPO TET2 THPO
30 retinitis pigmentosa and erythrocytic microcytosis 10.6 EPO GATA1 JAK2
31 blood coagulation disease 10.6 JAK2 MPL THPO
32 acute erythroid leukemia 10.6 EPO GATA1 JAK2
33 thrombocytopenia 3 10.6 MPL THPO
34 acute myeloblastic leukemia with maturation 10.6 FLT3 KIT
35 dyskeratosis congenita, autosomal dominant 6 10.6 MPL THPO
36 acute myeloid leukemia with t(8;21)(q22;q22) translocation 10.6 FLT3 KIT
37 blood platelet disease 10.6 JAK2 MPL THPO
38 dupuytren contracture 10.6 BMP6 FGF2 TGFB1
39 amegakaryocytic thrombocytopenia, congenital 10.5 MPL THPO
40 isolated growth hormone deficiency, type ii 10.5 JAK2 STAT5A STAT5B
41 hypertrophic scars 10.5 BMP6 TGFB1 TIMP1
42 core binding factor acute myeloid leukemia 10.5 FLT3 JAK2 KIT
43 anemia of prematurity 10.5 EPO STAT5A STAT5B
44 juvenile nasopharyngeal angiofibroma 10.5 BMP6 FGF2 KIT
45 nephrogenic systemic fibrosis 10.5 EPO TGFB1 TIMP1
46 crouzon syndrome 10.5 BMP6 FGF2 TGFB1
47 deep leiomyoma 10.5 CD177 KIT
48 chromosome 5q deletion syndrome 10.5 EPO TET2
49 thrombocytopenia-absent radius syndrome 10.5 CALR GATA1 JAK2 MPL THPO
50 immune system disease 10.5 EPO JAK2 THPO

Graphical network of the top 20 diseases related to Myelofibrosis:



Diseases related to Myelofibrosis

Symptoms & Phenotypes for Myelofibrosis

Symptoms via clinical synopsis from OMIM:

53
Hematology:
myeloproliferative disease
reduced hemopoiesis
generalized bone marrow fibrosis
no hemophagocytosis


Clinical features from OMIM:

254450

Human phenotypes related to Myelofibrosis:

31
# Description HPO Frequency HPO Source Accession
1 myeloproliferative disorder 31 HP:0005547
2 myelofibrosis 31 HP:0011974

MGI Mouse Phenotypes related to Myelofibrosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.31 JAK2 FGF2 KIT FLT3 GATA1 CD177
2 cellular MP:0005384 10.29 JAK2 FGF2 KIT FLT3 CALR GATA1
3 homeostasis/metabolism MP:0005376 10.25 EPO JAK2 FGF2 FKBP5 KIT FLT3
4 growth/size/body region MP:0005378 10.23 JAK2 BMP6 FLT3 CALR GATA1 TGFB1
5 immune system MP:0005387 10.21 JAK2 KIT FLT3 GATA1 CD177 EPO
6 mortality/aging MP:0010768 10.1 EPO JAK2 FGF2 FKBP5 FLT3 CALR
7 liver/biliary system MP:0005370 9.92 EPO JAK2 GATA1 TGFB1 STAT5A STAT5B
8 neoplasm MP:0002006 9.7 JAK2 FGF2 FLT3 TGFB1 TIMP1 KIT
9 reproductive system MP:0005389 9.61 FGF2 JAK2 FKBP5 BMP6 TGFB1 STAT5A
10 skeleton MP:0005390 9.28 GATA1 EPO FGF2 JAK2 BMP6 FLT3

Drugs & Therapeutics for Myelofibrosis

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

(show top 50) (show all 652)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
2
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 1,Phase 2 9004-61-9 53477741 24759
3
Trazodone Approved, Investigational Phase 4 19794-93-5 5533
4
Etanercept Approved, Investigational Phase 4,Phase 3 185243-69-0
5
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
6
Minocycline Approved, Investigational Phase 4,Phase 1 10118-90-8 5281021
7
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 50-28-2 5757
8
Benzocaine Approved, Investigational Phase 4,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
9
Dopamine Approved Phase 4,Phase 3,Phase 2 51-61-6, 62-31-7 681
10
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2 104632-26-0 119570 59868
11
Aminocaproic Acid Approved, Investigational Phase 4 60-32-2 564
12
Tranexamic Acid Approved Phase 4 1197-18-8 5526
13
Lopinavir Approved Phase 4,Phase 3,Phase 2 192725-17-0 92727
14
Enfuvirtide Approved, Investigational Phase 4,Phase 3 159519-65-0 16130199
15
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
16
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
17 Racepinephrine Approved Phase 4 329-65-7
18
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 124-94-7 31307
19
Ethanol Approved Phase 4,Phase 2,Phase 3,Phase 1 64-17-5 702
20 Piracetam Approved, Investigational Phase 4,Phase 3 7491-74-9
21
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
22
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3 148553-50-8 5486971
23
Hydroxychloroquine Approved Phase 4,Phase 3 118-42-3 3652
24
Leflunomide Approved, Investigational Phase 4,Phase 3 75706-12-6 3899
25
Sulfasalazine Approved Phase 4,Phase 3 599-79-1 5359476 5353980
26
Armodafinil Approved, Investigational Phase 4,Phase 3 112111-43-0
27
Modafinil Approved, Investigational Phase 4,Phase 3 68693-11-8 4236
28
Ropinirole Approved, Investigational Phase 4,Phase 3 91374-20-8, 91374-21-9 5095 497540
29
Adalimumab Approved Phase 4,Phase 3,Phase 2 331731-18-1 16219006
30
Ritonavir Approved, Investigational Phase 4,Phase 3 155213-67-5 392622
31
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2 60142-96-3 3446
32
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3,Phase 2 56-12-2 119
33
Lamotrigine Approved, Investigational Phase 4,Phase 3 84057-84-1 3878
34
Oxcarbazepine Approved Phase 4 28721-07-5 34312
35
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
36
Topiramate Approved Phase 4 97240-79-4 5284627
37
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
38
Capsaicin Approved Phase 4 404-86-4 1548943
39
Ziprasidone Approved Phase 4 146939-27-7 60854
40
Efavirenz Approved, Investigational Phase 4,Phase 3 154598-52-4 64139
41
Lamivudine Approved, Investigational Phase 4,Phase 3 134678-17-4 60825
42
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
43
Aripiprazole Approved, Investigational Phase 4,Phase 3 129722-12-9 60795
44
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
45
Cobicistat Approved Phase 4 1004316-88-4
46
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
47
Emtricitabine Approved, Investigational Phase 4,Phase 3 143491-57-0 60877
48
Insulin Glargine Approved Phase 4 160337-95-1
49
Zinc Approved, Investigational Phase 4 7440-66-6 32051 23994
50
Saquinavir Approved, Investigational Phase 4 127779-20-8 60787

Interventional clinical trials:

(show top 50) (show all 868)

# Name Status NCT ID Phase Drugs
1 Daily Activity and Gait Analysis After Viscosupplement Injection Among Hip Osteoarthritis Patients Unknown status NCT02086474 Phase 4 Hyaluronan;Bupivacaine
2 Comparison of Quetiapine and Trazodone Treatment for Insomnia in Dually Diagnosed Veterans Unknown status NCT01662297 Phase 4 Quetiapine;Trazodone
3 Exploratory Phase II Study of INC424 Patients With Primary Myelofibrosis (PMF) or Post Polycythaemia Myelofibrosis (PPV MF) or Post Essential Thrombocythaemia Myelofibrosis (PET-MF) Completed NCT01558739 Phase 4 INC424
4 A Phase IV Trial With Pramipexole to Investigate the Effects on RLS Symptoms and Sleep Disturbance in Patients With RLS Completed NCT00349531 Phase 4 Pramipexole
5 Community Health Worker Reduces Care Utilization Completed NCT00711152 Phase 4
6 Clinical Efficacy of Tranexamic Acid and ε-Aminocaproic Acid in Reducing Blood Loss Following Total Knee Replacement Completed NCT01873768 Phase 4 Tranexamic Acid (TXA);ε-Aminocaproic Acid (EACA)
7 Value of Urodynamic Evaluation Completed NCT00803959 Phase 4
8 A Comparison Study of Kaletra Soft-Gel Capsules and Kaletra Tablets in an African American Cohort Completed NCT00268827 Phase 4 Kaletra soft-gel capsules switched to Kaletra tablets
9 QUALITE Study - A Study of Fuzeon (Enfuvirtide) in Treatment-Experienced Patients With Human Immunodeficiency Virus-1 (HIV-1) Infection Completed NCT00232908 Phase 4 ARV regimen;enfuvirtide [Fuzeon]
10 Study to Evaluate Nilotinib in Chronic Myelogenous Leukemia (CML) Patients With SubOptimal Response Completed NCT01043874 Phase 4 Nilotinib
11 The Effects of Vitamin D on Transforming Growth Factor-beta1 in Polycystic Ovary Syndrome Completed NCT02460380 Phase 4 Vitamin D3
12 Mometasone Furoate on Sleep Disturbances in Subjects With Seasonal Allergic Rhinitis (Study P04608) (COMPLETED) Completed NCT00358527 Phase 4 Mometasone Furoate Nasal Spray (MFNS)
13 Daily Activity After Corticosteroids Injection Among Knee Osteoarthritis Patients Completed NCT02049879 Phase 4 Corticosteroids injection
14 Quetiapine Sr as Adjunctive Treatment In Mixed States of Bipolar Disorder Completed NCT01195363 Phase 4 quetiapine SR;quetiapine sr placebo
15 Effect of 5 Years of GH Replacement on Atherosclerosis Completed NCT00462475 Phase 4 Recombinant Growth Hormone, Genotropin (Pfizer)
16 The Effects of Levetiracetam on Alcohol Dependent Subjects Completed NCT00325182 Phase 4 Levetiracetam
17 Understanding Treatment Response With Naltrexone Among White Alcoholics Completed NCT00817089 Phase 4 naltrexone;placebo
18 An Efficacy and Safety Study of One Dosage of Paliperidone Extended Release (ER) in Treating Patients With Schizophrenia Completed NCT00524043 Phase 4 Paliperidone ER;Placebo;Paliperidone ER
19 Late-Onset Treatment Study Extension Protocol Completed NCT00455195 Phase 4
20 Immunogenicity Study of an Inactivated Hepatitis A Vaccine in Infants and Young Children Completed NCT00139113 Phase 4
21 Pregabalin for Treatment of Patients With Postherpetic Neuralgia (PHN) Completed NCT01455428 Phase 4 Lyrica (pregabalin);Placebo
22 P4 (Pregabalin for Peripheral Posttraumatic Pain) Completed NCT00292188 Phase 4 pregabalin;Placebo
23 Moderate Rheumatoid Arthritis (RA) With Etanercept (Enbrel) Completed NCT01313208 Phase 4 etanercept;Placebo;DMARD Therapy
24 Efficacy and Safety of Armodafinil for Adults With Excessive Sleepiness Obstructive Sleep Apnea/Hypopnea and Depression Completed NCT00518986 Phase 4 armodafinil;placebo
25 Long-term Study Of Ropinirole In Restless Legs Syndrome Completed NCT00329602 Phase 4 Placebo;Ropinirole
26 A Study to Determine the Effect of Methotrexate (MTX) Dose on Clinical Outcome and Ultrasonographic Signs in Subjects With Moderately to Severely Active Rheumatoid Arthritis (RA) Treated With Adalimumab (MUSICA) Completed NCT01185288 Phase 4 Methotrexate
27 Yoga for the Management of HIV-Metabolic Syndromes Completed NCT00627380 Phase 4
28 Sustained Virological Suppression and Improvement of Adverse Events of Switching to Raltegravir Study Completed NCT01679964 Phase 4 Raltegravir switch
29 Non-Interventional Study With LYRICA (Pregabalin) In Patients With Epilepsy As Adjunctive Therapy Of Partial Seizures To Reduce Seizure Frequency Completed NCT00684424 Phase 4
30 Efficacy Of Pregabalin In Subjects With Post-Stroke Central Neuropathic Pain Completed NCT00313820 Phase 4 Pregabalin;Placebo
31 Comparative Study Of Pregabalin And Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures Completed NCT00537940 Phase 4 Pregabalin;Gabapentin
32 A Prospective, Observational Study On The Effectiveness Of New Antiepileptic Drugs As First Bitherapy In The Daily Clinical Practice Completed NCT00855738 Phase 4 Gabapentin, Lamotrigine, Levetiracetam, Pregabalin, Oxcarbacepine, Tiagabine, Topiramate, Zonisamide
33 A Study to Compare QUTENZA With Pregabalin for the Treatment of Peripheral Neuropathic Pain (PNP) After 8 Weeks of Treatment Completed NCT01713426 Phase 4 Qutenza;Pregabalin
34 Efficacy and Tolerability of Switching to Ziprasidone From Other Antipsychotics Completed NCT00458211 Phase 4 ziprasidone
35 Lyrica (Pregabalin) Administered as an Add-on Therapy for Partial Seizures (LEADER). Completed NCT00288639 Phase 4 Pregabalin
36 Study to Evaluate Armodafinil Treatment in Improving Prefrontal Cortical Activation and Working Memory Performance Completed NCT00711516 Phase 4 Armodafinil;Placebo
37 Switch to Unboosted Atazanavir With Tenofovir Study Completed NCT01351740 Phase 4 atazanavir;atazanavir/ritonavir
38 DART II - A Phase IV Study of 3 Antiretroviral Medicines in Combination, in HIV Patients Who Have Not Been Previously Treated With Antiretroviral Therapy Completed NCT00116116 Phase 4 efavirenz, stavudine extended release, lamivudine
39 Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia Completed NCT00088049 Phase 4 Olanzapine;Aripiprazole
40 Elvitegravir/Cobicistat/Tenofovir DF/Emtricitabine With Darunavir Treatment Simplification Strategy Completed NCT02199613 Phase 4 Treatment simplification
41 A Study of the Efficacy and Safety of Pregabalin for the Treatment of Diabetic Peripheral Neuropathy or Postherpetic Neuralgia Completed NCT00629681 Phase 4 Pregabalin
42 Effect of Glargine Insulin on Glucose Control in Hospitalized Patients Who Receive Tube Feedings Completed NCT00177398 Phase 4 Glargine insulin vs regular insulin
43 Saquinavir/Ritonavir in Single Therapy as Maintenance Treatment Completed NCT00379405 Phase 4 Saquinavir/Ritonavir : 2 capsules (500 mg) / 12 hours
44 Study on the Effect of Kaletra + Nevirapine as Maintenance Bitherapy Compared to a Triple Therapy Including Kaletra + Analogues in HIV Patients Completed NCT00335686 Phase 4 Lopinavir-rtv (Kaletra): 3 capsules (600 mg)/12 h;Nevirapine (Viramune): 1 comp (200mg)/12h
45 Study Evaluating Etanercept for the Treatment of Moderate to Severe Psoriasis Completed NCT00663052 Phase 4 Etanercept;Etanercept
46 HRT Versus MOS for Endometrial Preparation Prior to FET in PCOS Patients Recruiting NCT02273791 Phase 4 Estradiol valerate;Sequential Clomiphene citrate and Gonadotropin
47 HRT Versus MOS for Endometrial Preparation Prior to FET in Non PCOS Patients Recruiting NCT02330757 Phase 4 Estradiol valerate;Sequential Clomiphene citrate and Gonadotropin
48 CINC424A2X01B Rollover Protocol Recruiting NCT02386800 Phase 4 Ruxolitinib
49 Rate of Prolonged Response After Stopping Thrombopoietin-receptor Agonists Treatment in ITP Recruiting NCT03119974 Phase 4 Tpo-RA discontinuation
50 Structured Discontinuation vs Continued Therapy in Suboptimal and Optimal Responders to High-dose Long-term Opioids for Chronic Pain Recruiting NCT02741076 Phase 4 Morphine Sulfate ER;Oxycodone ER;Oxymorphone ER

Search NIH Clinical Center for Myelofibrosis

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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

Anatomical Context for Myelofibrosis

MalaCards organs/tissues related to Myelofibrosis:

38
Bone, Bone Marrow, Myeloid, Breast, T Cells, Liver, Spleen

The Foundational Model of Anatomy Ontology organs/tissues related to Myelofibrosis:

18
The Bone Marrow Which Results_in Bone Marrow Being Replaced By Fibrous (Scar) Tissue

Publications for Myelofibrosis

Articles related to Myelofibrosis:

(show top 50) (show all 1064)
# Title Authors Year
1
Regenerative nodular hyperplasia, portal vein thrombosis and primary myelofibrosis: An unusual triple association. ( 29368941 )
2018
2
Normal karyotype in myelofibrosis: is prognostic integrity affected by the number of metaphases analyzed? ( 29330482 )
2018
3
Mutant calreticulin knockin mice develop thrombocytosis and myelofibrosis without a stem cell self-renewal advantage. ( 29282219 )
2018
4
Prognostic implications of low transferrin saturation in patients with primary myelofibrosis. ( 29407589 )
2018
5
The spleen of patients with myelofibrosis harbors defective mesenchymal stromal cells. ( 29359451 )
2018
6
GATA1 insufficiencies in primary myelofibrosis and other hematopoietic disorders: consequences for therapy. ( 29400094 )
2018
7
Connection between Parameters of Erythron System and Myelofibrosis during Chronic Myeloleukemia, Multiply Mieloma, and Chronic Lymphatic Leukemia. ( 29308562 )
2018
8
Prognostic risk models for transplant decision-making in myelofibrosis. ( 29396714 )
2018
9
Pulmonary Langerhans cell histiocytosis, acute myeloid leukemia, and myelofibrosis in a large family and review of the literature. ( 29428448 )
2018
10
A retrospective survey of exposure history to chemotherapy or radiotherapy in 940 consecutive patients with primary myelofibrosis. ( 29327469 )
2018
11
Thalidomide plus prednisone with or without danazol therapy in myelofibrosis: a retrospective analysis of incidence and durability of anemia response. ( 29335406 )
2018
12
CD8<sup>+</sup>T cells and IFN-I^ induce autoimmune myelofibrosis in mice. ( 29307587 )
2018
13
Allogeneic hematopoietic stem cell transplant overcomes the adverse survival effect of very high risk and unfavorable karyotype in myelofibrosis. ( 29388258 )
2018
14
Distinguishing myelofibrosis from polycythemia vera and essential thrombocythemia: The utility of enumerating circulating stem cells with aberrant hMICL expression by flow cytometry. ( 29427319 )
2018
15
Significance of thrombocytopenia in patients with primary and postessential thrombocythemia/polycythemia vera myelofibrosis. ( 29226426 )
2018
16
Assessing serum albumin concentration, lymphocyte count and prognostic nutritional index might improve prognostication in patients with myelofibrosis. ( 29372410 )
2018
17
p.Y317H is a new JAK2 gain-of function mutation affecting the FERM domain in a myelofibrosis patient with CALR mutation. ( 28473624 )
2017
18
An unusual, activating insertion/deletion MPL mutant in primary myelofibrosis. ( 28529309 )
2017
19
Leptin-receptor-expressing bone marrow stromal cells are myofibroblasts in primary myelofibrosis. ( 28481328 )
2017
20
Non-driver mutations in myeloproliferative neoplasm-associated myelofibrosis. ( 28464892 )
2017
21
How ruxolitinib modified the outcome in myelofibrosis: focus on overall survival, allele burden reduction and fibrosis changes. ( 27983880 )
2017
22
'Janus kinase-ing' up the treatment of primary myelofibrosis: building better combination strategies. ( 28072602 )
2017
23
Calreticulin mutations are exceedingly rare in patients with myelodysplastic syndromes with myelofibrosis. ( 27730343 )
2017
24
Molecular profiling as a novel tool to predict response to interferon-I+2 in MPNs: The proof of concept in early myelofibrosis. ( 28518284 )
2017
25
Pulmonary cryptococcosis in a ruxolitinib-treated patient with primary myelofibrosis. ( 28721333 )
2017
26
BCR-ABL1-positive chronic myeloid leukemia emerging in a patient with secondary myelofibrosis harboring the JAK2-V617F mutation. ( 28484156 )
2017
27
The effect of initial molecular profile on response to recombinant interferon-I+ (rIFNI+) treatment in early myelofibrosis. ( 28518222 )
2017
28
The Amelioration of Myelofibrosis with Thrombocytopenia by a JAK1/2 Inhibitor, Ruxolitinib, in a Post-polycythemia Vera Myelofibrosis Patient with a JAK2 Exon 12 Mutation. ( 28674362 )
2017
29
Myeloid neoplasms with features intermediate between primary myelofibrosis and chronic myelomonocytic leukemia. ( 29192651 )
2017
30
An unusual type of myeloid sarcoma localization following myelofibrosis: A case report and literature review. ( 28794969 )
2017
31
Tumor Lysis Syndrome after the Administration of Ruxolitinib in a Patient with Post-polycythemia Vera Myelofibrosis. ( 28794380 )
2017
32
Detection of driver and subclonal mutations in myelofibrosis: clinical impact on pharmacologic and transplant based treatment strategies. ( 28504024 )
2017
33
Fatal Disseminated Tuberculosis during Treatment with Ruxolitinib Plus Prednisolone in a Patient with Primary Myelofibrosis: A Case Report and Review of the Literature. ( 29279479 )
2017
34
Intravascular large B-cell lymphoma associated with myelofibrosis: A case report. ( 29075489 )
2017
35
Allogeneic Stem Cell Transplantation in Myelofibrosis. ( 28499938 )
2017
36
Clinical course and outcome of essential thrombocythemia and prefibrotic myelofibrosis according to the revised WHO 2016 diagnostic criteria. ( 29254200 )
2017
37
miR-494-3p overexpression promotes megakaryocytopoiesis in primary myelofibrosis hematopoietic stem/progenitor cells by targeting SOCS6. ( 28423484 )
2017
38
A phase 1 study of the Janus kinase 2 (JAK2)(V617F) inhibitor, gandotinib (LY2784544), in patients with primary myelofibrosis, polycythemia vera, and essential thrombocythemia. ( 28934680 )
2017
39
Efficacy and safety of ruxolitinib in intermediate-1 IPSS risk myelofibrosis patients: Results from an independent study. ( 28512865 )
2017
40
Progression of primary myelofibrosis to polycythemia vera: A case report. ( 28700486 )
2017
41
AML with myelodysplasia-related changes masquerades as acute panmyelosis with myelofibrosis. ( 29025719 )
2017
42
Distribution and Impact of Comorbidities on Survival and Leukemic Transformation in Myeloproliferative Neoplasm-Associated Myelofibrosis: A Retrospective Cohort Study. ( 28711573 )
2017
43
Downregulation of GATA1 drives impaired hematopoiesis in primary myelofibrosis. ( 28240607 )
2017
44
Driver mutations' effect in secondary myelofibrosis: an international multicenter study based on 781 patients. ( 27885272 )
2017
45
A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis. ( 28453180 )
2017
46
Ruxolitinib for the Treatment of Portal Hypertension in a Patient With Primary Myelofibrosis. ( 28478151 )
2017
47
Persistent foot ulcer due to ruxolitinib therapy for primary myelofibrosis. ( 28436280 )
2017
48
Investigational Janus kinase inhibitors in development for myelofibrosis. ( 28441920 )
2017
49
Incidence of Myelofibrosis in Chronic Myeloid Leukemia, Multiple Myeloma, and Chronic Lymphoid Leukemia during Various Phases of Diseases. ( 28239786 )
2017
50
Haploidentical hematopoietic stem cell transplantation in a myelofibrosis patient with primary graft failure. ( 29383224 )
2017

Variations for Myelofibrosis

UniProtKB/Swiss-Prot genetic disease variations for Myelofibrosis:

71
# Symbol AA change Variation ID SNP ID
1 MPL p.Trp515Lys VAR_067560 rs121913616
2 MPL p.Trp515Leu VAR_067561 rs121913615

ClinVar genetic disease variations for Myelofibrosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MPL NM_005373.2(MPL): c.1514G> A (p.Ser505Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121913614 GRCh37 Chromosome 1, 43814979: 43814979
2 MPL NM_005373.2(MPL): c.1544G> T (p.Trp515Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913615 GRCh37 Chromosome 1, 43815009: 43815009
3 MPL NM_005373.2(MPL): c.1543_1544delTGinsAA (p.Trp515Lys) indel Pathogenic rs121913616 GRCh37 Chromosome 1, 43815008: 43815009
4 JAK2 NM_004972.3(JAK2): c.1849G> T (p.Val617Phe) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs77375493 GRCh37 Chromosome 9, 5073770: 5073770
5 SH2B3 NM_005475.2(SH2B3): c.603_607delGCGCT (p.Arg202Glnfs) deletion Pathogenic rs587776885 GRCh38 Chromosome 12, 111418748: 111418752
6 CALR NM_004343.3(CALR): c.1092_1143del52 (p.Leu367Thrfs) deletion Pathogenic GRCh37 Chromosome 19, 13054565: 13054616
7 ATG2B NC_000014.9: g.95696766_96390792dup694027 duplication Likely pathogenic GRCh37 Chromosome 14, 96163103: 96857129

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

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 top 50) (show all 60)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 BMP6 FGF2 FLT3 JAK2 KIT STAT5A
2
Show member pathways
13.73 BMP6 FGF2 FLT3 JAK2 KIT STAT5A
3
Show member pathways
13.55 BMP6 EPO FLT3 IFNA1 JAK2 KIT
4
Show member pathways
13.36 BMP6 FGF2 FLT3 JAK2 KIT STAT5A
5
Show member pathways
13.35 FGF2 FLT3 IFNA1 JAK2 KIT STAT5A
6
Show member pathways
13.34 BMP6 FGF2 FLT3 KIT TGFB1 THPO
7
Show member pathways
13.31 BMP6 FGF2 JAK2 KIT TGFB1 THPO
8
Show member pathways
13.29 BMP6 FGF2 FLT3 KIT TGFB1 THPO
9
Show member pathways
13.28 CD177 GATA1 IFNA1 JAK2 MPL SH2B3
10
Show member pathways
13.21 BMP6 EPO FGF2 FLT3 IFNA1 JAK2
11
Show member pathways
13.08 BMP6 FGF2 KIT TGFB1 THPO TIMP1
12
Show member pathways
13.05 FGF2 FLT3 JAK2 KIT STAT5A STAT5B
13
Show member pathways
13.05 BMP6 FGF2 JAK2 KIT TGFB1 THPO
14
Show member pathways
12.99 EPO FGF2 FLT3 IFNA1 JAK2 KIT
15
Show member pathways
12.79 JAK2 MPL STAT5A STAT5B THPO
16
Show member pathways
12.71 BMP6 FGF2 TGFB1 THPO TIMP1
17 12.63 EPO FGF2 FLT3 IFNA1 JAK2 KIT
18
Show member pathways
12.6 FGF2 JAK2 STAT5A STAT5B TIMP1
19
Show member pathways
12.56 FGF2 IFNA1 JAK2 STAT5A STAT5B TGFB1
20 12.46 GATA1 IFNA1 JAK2 KIT MPL STAT5A
21 12.43 CALR STAT5A STAT5B TGFB1
22
Show member pathways
12.34 FLT3 JAK2 STAT5A STAT5B
23
Show member pathways
12.31 IFNA1 JAK2 STAT5A STAT5B
24
Show member pathways
12.23 IFNA1 JAK2 STAT5A STAT5B
25 12.17 GATA1 IFNA1 JAK2 SH2B3
26 12.12 FGF2 FLT3 JAK2 KIT
27 12.06 FGF2 GATA1 TGFB1 THPO
28 11.99 FGF2 JAK2 TGFB1 TIMP1
29
Show member pathways
11.94 JAK2 STAT5A STAT5B TGFB1
30 11.91 JAK2 STAT5A STAT5B TGFB1
31 11.89 EPO FLT3 KIT THPO
32
Show member pathways
11.88 EPO IFNA1 JAK2 MPL STAT5A STAT5B
33
Show member pathways
11.86 FGF2 STAT5A STAT5B
34
Show member pathways
11.86 EPO JAK2 SH2B3 STAT5A STAT5B
35 11.86 EPO FLT3 KIT MPL SH2B3 THPO
36
Show member pathways
11.85 JAK2 STAT5A STAT5B TGFB1
37 11.84 FGF2 TGFB1 TIMP1
38 11.84 EPO IFNA1 JAK2 STAT5A STAT5B
39 11.84 BMP6 FGF2 KIT TGFB1 THPO
40 11.81 FKBP5 STAT5A STAT5B
41 11.77 JAK2 STAT5A STAT5B
42 11.76 FLT3 KIT TGFB1
43 11.7 JAK2 STAT5A STAT5B
44 11.69 BMP6 FGF2 STAT5B TGFB1
45 11.67 JAK2 STAT5A STAT5B
46 11.67 FGF2 TGFB1 TIMP1
47 11.66 FGF2 FKBP5 TET2
48 11.58 FGF2 KIT TGFB1
49 11.55 JAK2 STAT5A STAT5B
50 11.53 EPO GATA1 STAT5A

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 9.28 BMP6 CALR EPO FGF2 IFNA1 KIT

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

(show top 50) (show all 54)
# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.97 BMP6 CALR FLT3 JAK2 TGFB1
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.95 EPO FGF2 TGFB1 THPO
3 positive regulation of protein kinase B signaling GO:0051897 9.91 FGF2 KIT TGFB1 THPO
4 regulation of receptor activity GO:0010469 9.91 BMP6 EPO FGF2 IFNA1 TGFB1 THPO
5 response to estradiol GO:0032355 9.89 CALR STAT5B TGFB1
6 blood coagulation GO:0007596 9.89 CD177 GATA1 IFNA1 JAK2 SH2B3
7 wound healing GO:0042060 9.87 FGF2 TGFB1 TIMP1
8 response to organic substance GO:0010033 9.87 CALR TGFB1 TIMP1
9 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.86 GATA1 JAK2 TGFB1
10 hemopoiesis GO:0030097 9.85 FLT3 KIT SH2B3
11 positive regulation of endothelial cell proliferation GO:0001938 9.83 BMP6 FGF2 STAT5A
12 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.83 FLT3 JAK2 KIT
13 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.76 EPO FLT3 JAK2 KIT
14 positive regulation of blood vessel endothelial cell migration GO:0043536 9.73 FGF2 STAT5A TGFB1
15 positive regulation of transcription regulatory region DNA binding GO:2000679 9.72 HMGA2 TGFB1
16 hyaluronan catabolic process GO:0030214 9.71 FGF2 TGFB1
17 cell activation GO:0001775 9.71 TGFB1 TIMP1
18 negative regulation of cell-cell adhesion GO:0022408 9.71 JAK2 TGFB1
19 positive regulation of MAP kinase activity GO:0043406 9.71 FGF2 FLT3 KIT TGFB1
20 cellular response to thyroid hormone stimulus GO:0097067 9.7 GATA1 KIT
21 positive regulation of superoxide anion generation GO:0032930 9.7 CD177 TGFB1
22 JAK-STAT cascade GO:0007259 9.7 JAK2 STAT5A STAT5B
23 positive regulation of SMAD protein import into nucleus GO:0060391 9.69 BMP6 TGFB1
24 interleukin-15-mediated signaling pathway GO:0035723 9.69 STAT5A STAT5B
25 myeloid cell differentiation GO:0030099 9.69 GATA1 TET2 THPO
26 oxaloacetate metabolic process GO:0006107 9.68 STAT5A STAT5B
27 dendritic cell differentiation GO:0097028 9.68 FLT3 GATA1
28 creatine metabolic process GO:0006600 9.68 STAT5A STAT5B
29 positive regulation of phospholipase C activity GO:0010863 9.67 FGF2 KIT
30 succinate metabolic process GO:0006105 9.66 STAT5A STAT5B
31 germ cell migration GO:0008354 9.66 KIT TGFB1
32 embryonic hemopoiesis GO:0035162 9.65 GA