MCID: MYL005
MIFTS: 70

Myelofibrosis

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

Aliases & Classifications for Myelofibrosis

MalaCards integrated aliases for Myelofibrosis:

Name: Myelofibrosis 57 38 12 76 53 75 37 29 55 6 15 40 73
Primary Myelofibrosis 12 53 25 59 55 44 73
Agnogenic Myeloid Metaplasia 12 53 25 59 75 55
Idiopathic Myelofibrosis 53 25 59 75 55
Myelofibrosis with Myeloid Metaplasia 25 59 75 6
Myeloid Metaplasia 53 25 55 73
Myelofibrosis with Myeloid Metaplasia, Somatic 57 13 6
Megakaryocytic Myelosclerosis 12 73
Osteomyelofibrosis 59 73
Myelosclerosis 12 75
Agnogenic Myeloid Metaplasia with Myelofibrosis 75
Myelosclerosis with Myeloid Metaplasia 75
Chronic Idiopathic Myelofibrosis 25
Myelofibrosis, Somatic 57
Bone Marrow Fibrosis 12
Aleukemic Myelosis 12
Myelof 75
Ammm 75
Mmm 75

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
somatic mutation

Miscellaneous:
onset first weeks of life


HPO:

32

Classifications:



External Ids:

OMIM 57 254450
Disease Ontology 12 DOID:4971
ICD10 33 D47.4 D75.81
ICD9CM 35 238.76 289.83
NCIt 50 C2862 C3248
Orphanet 59 ORPHA824
UMLS via Orphanet 74 C0001815 C0026987
ICD10 via Orphanet 34 D47.4
KEGG 37 H01605

Summaries for Myelofibrosis

NIH Rare Diseases : 53 Myelofibrosis is a disorder of the spongy tissue inside the bone (bone marrow) that contains the stem cells that will form blood cells. In myelofibrosis, the bone marrow is replaced by fibrous (scar) tissue. When the bone marrow is scarred, it cannot make enough blood cells. This leads to anemia, weakness, fatigue, and often, swelling of the liver and spleen. The disorder occurs when blood stem cells develop somatic mutations in the JAK2, MPL, CALR, and TET2 genes. Other genes may also be involved. The disorder is generally not inherited because this type of mutation does not affect the reproductive cells (sperm and egg) only certain cells of the body (somatic). Although myelofibrosis can occur at any age, it typically develops after the age of 50 years. In most cases, myelofibrosis gets progressively worse. Treatment is aimed at relieving signs and symptoms and may include medications, blood transfusions, chemotherapy, radiation therapy, and surgery. Bone marrow or stem cell transplant may improve symptoms, and may cure the disease.   

MalaCards based summary : Myelofibrosis, also known as primary myelofibrosis, is related to megakaryocytic leukemia and myeloproliferative neoplasm. An important gene associated with Myelofibrosis is MPL (MPL Proto-Oncogene, Thrombopoietin Receptor), and among its related pathways/superpathways are Jak-STAT signaling pathway and TGF-Beta Pathway. The drugs 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 myeloproliferative disorder and myelofibrosis

UniProtKB/Swiss-Prot : 75 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 : 25 Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis.

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 : 76 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 247)
# Related Disease Score Top Affiliating Genes
1 megakaryocytic leukemia 33.2 GATA1 JAK2 THPO
2 myeloproliferative neoplasm 32.6 CALR JAK2 KIT MPL SH2B3 STAT5B
3 splenomegaly 31.9 EPO JAK2 MPL
4 polycythemia 31.5 CALR CD177 EPO JAK2 MPL TET2
5 pancytopenia 31.4 EPO MPL THPO
6 chronic myelomonocytic leukemia 31.3 JAK2 KIT TET2
7 thrombocytosis 31.3 EPO JAK2 MPL TET2 THPO
8 systemic mastocytosis 30.9 JAK2 KIT TET2
9 polycythemia vera 30.9 CALR CD177 EPO HMGA2 JAK2 KIT
10 refractory anemia 30.8 EPO JAK2 MPL TET2
11 essential thrombocythemia 30.6 CALR CD177 EPO GATA1 JAK2 MIR223
12 myelodysplastic syndrome 30.3 EPO GATA1 JAK2 KIT MEG3 MPL
13 aplastic anemia 30.3 EPO GATA1 MPL TET2 THPO
14 thrombocytopenia 1 30.2 GATA1 THPO
15 leukemia, chronic myeloid 28.1 CD177 EPO GATA1 JAK2 KIT MEG3
16 leukemia, acute myeloid 27.7 CDKN2B-AS1 GATA1 JAK2 KIT MEG3 MIR223
17 acute panmyelosis with myelofibrosis 12.5
18 thrombocytopenia, anemia, and myelofibrosis 12.2
19 familial myelofibrosis 12.1
20 cellular phase chronic idiopathic myelofibrosis 11.9
21 thrombocytopenia 6 11.6
22 gray platelet syndrome 11.5
23 thrombocytopenia 3 11.0 MPL THPO
24 specific granule deficiency 2 11.0
25 amegakaryocytic thrombocytopenia, congenital 11.0 MPL THPO
26 folic acid deficiency anemia 11.0 EPO TET2 THPO
27 blood coagulation disease 11.0 JAK2 MPL THPO
28 chromosome 5q deletion syndrome 11.0 EPO TET2
29 hemorrhagic disease 11.0 JAK2 MPL THPO
30 acute erythroid leukemia 11.0 EPO GATA1 JAK2
31 blood platelet disease 11.0 JAK2 MPL THPO
32 dyskeratosis congenita, autosomal dominant 6 11.0 MPL THPO
33 acquired polycythemia 10.9 EPO JAK2
34 deep leiomyoma 10.9 CD177 KIT
35 retinitis pigmentosa and erythrocytic microcytosis 10.9 EPO JAK2
36 neutropenia, severe congenital, 5, autosomal recessive 10.9
37 immune system disease 10.9 EPO JAK2 THPO
38 thrombocythemia 1 10.9 CALR MPL SH2B3 THPO
39 bleeding disorder, platelet-type, 17 10.9
40 kidney fibrosarcoma 10.9 EPO HMGA2
41 juvenile nasopharyngeal angiofibroma 10.8 BMP6 FGF2 KIT
42 diamond-blackfan anemia 10.8 EPO GATA1 MPL THPO
43 thrombocytopenia-absent radius syndrome 10.8 CALR GATA1 JAK2 MPL THPO
44 erythrocytosis, familial, 1 10.6 EPO JAK2 SH2B3 STAT5B THPO
45 thrombocytopenia due to platelet alloimmunization 10.6 MPL THPO
46 hematologic cancer 10.5 JAK2 KIT MPL STAT5B TET2 THPO
47 leukemia 10.5
48 prostate disease 10.3 CDKN2B-AS1 MEG3
49 melorheostosis 10.2 BMP6 FGF2
50 lymphoma 10.1

Graphical network of the top 20 diseases related to Myelofibrosis:



Diseases related to Myelofibrosis

Symptoms & Phenotypes for Myelofibrosis

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

254450

Human phenotypes related to Myelofibrosis:

32
# Description HPO Frequency HPO Source Accession
1 myeloproliferative disorder 32 HP:0005547
2 myelofibrosis 32 HP:0011974

MGI Mouse Phenotypes related to Myelofibrosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.7 CD177 EPO FGF2 GATA1 JAK2 KIT
2 immune system MP:0005387 9.32 KIT MPL SH2B3 STAT5B TET2 THPO

Drugs & Therapeutics for Myelofibrosis

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

(show top 50) (show all 709)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
2
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 1,Phase 2,Not Applicable 9004-61-9 53477741
3
Fexofenadine Approved, Investigational Phase 4 83799-24-0 3348
4
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 60142-96-3 3446
5
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
6
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 148553-50-8 5486971
7
Trazodone Approved, Investigational Phase 4 19794-93-5 5533
8
Sodium oxybate Approved Phase 4 502-85-2 5360545
9
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 128794-94-5 5281078
10
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 24280-93-1 446541
11
Tacrolimus Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1 104987-11-3 445643 439492
12
Etanercept Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 185243-69-0
13
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1959-05-2, 59-05-2 126941
14
Minocycline Approved, Investigational Phase 4,Phase 1,Not Applicable 10118-90-8 5281021
15
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-28-2 5757
16 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 979-32-8
17
Polyestradiol phosphate Approved Phase 4,Phase 3,Phase 2,Not Applicable 28014-46-2
18
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1994-09-7, 94-09-7 2337
19
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-61-6, 62-31-7 681
20
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2 104632-26-0 59868 119570
21
Aminocaproic Acid Approved, Investigational Phase 4 60-32-2 564
22
Tranexamic Acid Approved Phase 4 1197-18-8 5526
23
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
24
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
25
Racepinephrine Approved Phase 4 329-65-7 838
26
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 124-94-7 31307
27
Ethanol Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 64-17-5 702
28 Piracetam Approved, Investigational Phase 4,Phase 3 7491-74-9
29
Lopinavir Approved Phase 4,Phase 3,Phase 2 192725-17-0 92727
30
Enfuvirtide Approved, Investigational Phase 4,Phase 3 159519-65-0 16130199
31
Naltrexone Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 16590-41-3 5360515
32
alemtuzumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 216503-57-0
33
Basiliximab Approved, Investigational Phase 4,Phase 2,Not Applicable 152923-56-3, 179045-86-4
34
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
35
Clarithromycin Approved Phase 4 81103-11-9 84029
36
Doxycycline Approved, Investigational, Vet_approved Phase 4,Phase 1 564-25-0 54671203
37
Hydroxychloroquine Approved Phase 4,Phase 3 118-42-3 3652
38
Leflunomide Approved, Investigational Phase 4,Phase 3 75706-12-6 3899
39
Sulfasalazine Approved Phase 4,Phase 3 599-79-1 5353980 5359476
40
Armodafinil Approved, Investigational Phase 4,Phase 3 112111-43-0
41
Modafinil Approved, Investigational Phase 4,Phase 3 68693-11-8 4236
42
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
43
Ropinirole Approved, Investigational Phase 4,Phase 3 91374-20-8, 91374-21-9 5095 497540
44
Adalimumab Approved Phase 4,Phase 3,Phase 2 331731-18-1 16219006
45
Ritonavir Approved, Investigational Phase 4,Phase 3 155213-67-5 392622
46
Lamotrigine Approved, Investigational Phase 4,Phase 3 84057-84-1 3878
47
Oxcarbazepine Approved Phase 4 28721-07-5 34312
48
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
49
Topiramate Approved Phase 4 97240-79-4 5284627
50
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734

Interventional clinical trials:

(show top 50) (show all 1104)
# 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 Pregabalin for the Treatment of Uremic Pruritus Unknown status NCT01852318 Phase 4 pregabalin 75mg daily for 12 weeks;fexofenadine 60 mg daily for 12 weeks;placebo
3 Nasal Continuous Positive Airway Pressure (CPAP) in Chronic Fatigue and Sleep-disordered Breathing Unknown status NCT01368718 Phase 4
4 Comparison of Quetiapine and Trazodone Treatment for Insomnia in Dually Diagnosed Veterans Unknown status NCT01662297 Phase 4 Quetiapine;Trazodone
5 Sodium Oxybate in Patients With Chronic Fatigue Syndrome. Unknown status NCT01584934 Phase 4 Sodium oxybate;Placebo
6 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
7 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
8 Community Health Worker Reduces Care Utilization Completed NCT00711152 Phase 4
9 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)
10 Mometasone Furoate on Sleep Disturbances in Subjects With Seasonal Allergic Rhinitis (Study P04608) (COMPLETED) Completed NCT00358527 Phase 4 Mometasone Furoate Nasal Spray (MFNS)
11 Daily Activity After Corticosteroids Injection Among Knee Osteoarthritis Patients Completed NCT02049879 Phase 4 Corticosteroids injection
12 Value of Urodynamic Evaluation Completed NCT00803959 Phase 4
13 The Effects of Levetiracetam on Alcohol Dependent Subjects Completed NCT00325182 Phase 4 Levetiracetam
14 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
15 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]
16 Study to Evaluate Nilotinib in Chronic Myelogenous Leukemia (CML) Patients With SubOptimal Response Completed NCT01043874 Phase 4 Nilotinib
17 The Effects of Vitamin D on Transforming Growth Factor-beta1 in Polycystic Ovary Syndrome Completed NCT02460380 Phase 4 Vitamin D3
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 Quetiapine Sr as Adjunctive Treatment In Mixed States of Bipolar Disorder Completed NCT01195363 Phase 4 quetiapine SR;quetiapine sr placebo
20 Late-Onset Treatment Study Extension Protocol Completed NCT00455195 Phase 4
21 Understanding Treatment Response With Naltrexone Among White Alcoholics Completed NCT00817089 Phase 4 naltrexone;placebo
22 Safety/Efficacy of Induction Agents With Tacrolimus, MMF, and Rapid Steroid Withdrawal in Renal Transplant Recipients Completed NCT00113269 Phase 4 basiliximab;rabbit anti-thymocyte globulin;tacrolimus;alemtuzumab;mycophenolate mofetil;steroids
23 Persistent Lyme Empiric Antibiotic Study Europe Completed NCT01207739 Phase 4 Doxycycline;Clarithromycin and hydroxychloroquine;Placebo
24 Pregabalin for Treatment of Patients With Postherpetic Neuralgia (PHN) Completed NCT01455428 Phase 4 Lyrica (pregabalin);Placebo
25 Moderate Rheumatoid Arthritis (RA) With Etanercept (Enbrel) Completed NCT01313208 Phase 4 etanercept;Placebo;DMARD Therapy
26 Efficacy and Safety of Armodafinil for Adults With Excessive Sleepiness Obstructive Sleep Apnea/Hypopnea and Depression Completed NCT00518986 Phase 4 armodafinil;placebo
27 The Effects of Milnacipran on Sleep Disturbance in Fibromyalgia Completed NCT01234675 Phase 4 Milnacipran;Milnacipran
28 P4 (Pregabalin for Peripheral Posttraumatic Pain) Completed NCT00292188 Phase 4 pregabalin;Placebo
29 Long-term Study Of Ropinirole In Restless Legs Syndrome Completed NCT00329602 Phase 4 Placebo;Ropinirole
30 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
31 Sustained Virological Suppression and Improvement of Adverse Events of Switching to Raltegravir Study Completed NCT01679964 Phase 4 Raltegravir switch
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 Comparative Study Of Pregabalin And Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures Completed NCT00537940 Phase 4 Pregabalin;Gabapentin
34 Immunogenicity Study of an Inactivated Hepatitis A Vaccine in Infants and Young Children Completed NCT00139113 Phase 4
35 Study to Evaluate Armodafinil Treatment in Improving Prefrontal Cortical Activation and Working Memory Performance Completed NCT00711516 Phase 4 Armodafinil;Placebo
36 Efficacy and Safety of Two Pharmacologic Strategies on Neurocognitive Impairment in HIV Infection. The TRIANT-TE Study Completed NCT01348282 Phase 4 Lithium;Rivastigmine
37 Efficacy Of Pregabalin In Subjects With Post-Stroke Central Neuropathic Pain Completed NCT00313820 Phase 4 Pregabalin;Placebo
38 Switch to Unboosted Atazanavir With Tenofovir Study Completed NCT01351740 Phase 4 atazanavir;atazanavir/ritonavir
39 Yoga for the Management of HIV-Metabolic Syndromes Completed NCT00627380 Phase 4
40 Elvitegravir/Cobicistat/Tenofovir DF/Emtricitabine With Darunavir Treatment Simplification Strategy Completed NCT02199613 Phase 4 Treatment simplification
41 Efficacy and Tolerability of Switching to Ziprasidone From Other Antipsychotics Completed NCT00458211 Phase 4 ziprasidone
42 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
43 Lyrica (Pregabalin) Administered as an Add-on Therapy for Partial Seizures (LEADER). Completed NCT00288639 Phase 4 Pregabalin
44 A Longitudinal 2-year Bone Marrow Study of Eltrombopag in Previously Treated Adults, With Chronic Immune (Idiopathic) Thrombocytopenic Purpura (ITP) Completed NCT01098487 Phase 4 Eltrombopag olamine
45 High Dose or High Dose Frequency Study of Alglucosidase Alfa Completed NCT00483379 Phase 4
46 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
47 Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia Completed NCT00088049 Phase 4 Olanzapine;Aripiprazole
48 A Study of the Efficacy and Safety of Pregabalin for the Treatment of Diabetic Peripheral Neuropathy or Postherpetic Neuralgia Completed NCT00629681 Phase 4 Pregabalin
49 Effect of Glargine Insulin on Glucose Control in Hospitalized Patients Who Receive Tube Feedings Completed NCT00177398 Phase 4 Glargine insulin vs regular insulin
50 Saquinavir/Ritonavir in Single Therapy as Maintenance Treatment Completed NCT00379405 Phase 4 Saquinavir/Ritonavir : 2 capsules (500 mg) / 12 hours

Search NIH Clinical Center for Myelofibrosis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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

Anatomical Context for Myelofibrosis

MalaCards organs/tissues related to Myelofibrosis:

41
Bone, Bone Marrow, Myeloid, Brain, T Cells, Lung, Heart

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

19
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 1243)
# Title Authors Year
1
Significance of thrombocytopenia in patients with primary and postessential thrombocythemia/polycythemia vera myelofibrosis. ( 29226426 )
2018
2
The spleen of patients with myelofibrosis harbors defective mesenchymal stromal cells. ( 29359451 )
2018
3
Regenerative nodular hyperplasia, portal vein thrombosis and primary myelofibrosis: An unusual triple association. ( 29368941 )
2018
4
Molecular Markers and Prognosis of Myelofibrosis in the Genomic Era: A Meta-analysis. ( 29970342 )
2018
5
How we treat myelofibrosis after failure of JAK inhibitors. ( 29866811 )
2018
6
Assessing serum albumin concentration, lymphocyte count and prognostic nutritional index might improve prognostication in patients with myelofibrosis. ( 29372410 )
2018
7
Phenotype variability of patients with post polycythemia vera and post essential thrombocythemia myelofibrosis is associated with the time to progression from polycythemia vera and essential thrombocythemia. ( 29734070 )
2018
8
Normal karyotype in myelofibrosis: is prognostic integrity affected by the number of metaphases analyzed? ( 29330482 )
2018
9
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice. ( 29898956 )
2018
10
Distinguishing myelofibrosis from polycythemia vera and essential thrombocythemia: The utility of enumerating circulating stem cells with aberrant hMICL expression by flow cytometry. ( 29427319 )
2018
11
CD8<sup>+</sup>T cells and IFN-I^ induce autoimmune myelofibrosis in mice. ( 29307587 )
2018
12
Tc-99m Sulfur Colloid Bone Marrow Scintigraphy in Diagnosis of Diffuse Pulmonary Extramedullary Hematopoesis Secondary to Myelofibrosis: Experience of a Tertiary Hospital. ( 29884685 )
2018
13
Renal complications of primary myelofibrosis. ( 29966471 )
2018
14
Early thrombotic events and preemptive systemic anticoagulation following splenectomy for myelofibrosis. ( 29981287 )
2018
15
Mutant calreticulin knockin mice develop thrombocytosis and myelofibrosis without a stem cell self-renewal advantage. ( 29282219 )
2018
16
Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis? ( 29945135 )
2018
17
Non-pseudomonal Ecthyma Gangrenosum and Idiopathic Myelofibrosis in a Two-Year-Old Girl. ( 29881654 )
2018
18
Focal segmental glomerulosclerosis in a patient with prefibrotic primary myelofibrosis. ( 29728434 )
2018
19
A retrospective survey of exposure history to chemotherapy or radiotherapy in 940 consecutive patients with primary myelofibrosis. ( 29327469 )
2018
20
Thalidomide plus prednisone with or without danazol therapy in myelofibrosis: a retrospective analysis of incidence and durability of anemia response. ( 29335406 )
2018
21
Numb chin syndrome as a presenting symptom of diffuse large B-cell lymphoma with secondary myelofibrosis. ( 29930179 )
2018
22
Connection between Parameters of Erythron System and Myelofibrosis during Chronic Myeloleukemia, Multiply Mieloma, and Chronic Lymphatic Leukemia. ( 29308562 )
2018
23
Safety and efficacy of combination therapy of interferon-I+2 and ruxolitinib in polycythemia vera and myelofibrosis. ( 29932310 )
2018
24
Pulmonary Langerhans cell histiocytosis, acute myeloid leukemia, and myelofibrosis in a large family and review of the literature. ( 29428448 )
2018
25
Outcome of patients with Myelofibrosis relapsing after allogeneic stem cell transplant: a retrospective study by the Chronic Malignancies Working Party of EBMT. ( 29808926 )
2018
26
Combining information on C reactive protein and serum albumin into the Glasgow Prognostic Score strongly discriminates survival of myelofibrosis patients. ( 29891442 )
2018
27
Allogeneic hematopoietic stem cell transplant overcomes the adverse survival effect of very high risk and unfavorable karyotype in myelofibrosis. ( 29388258 )
2018
28
Value of cytogenetic abnormalities in post-polycythemia vera and post-essential thrombocythemia myelofibrosis: a study of the MYSEC project. ( 29622658 )
2018
29
Management of Myelofibrosis-Related Cytopenias. ( 29796726 )
2018
30
GATA1 insufficiencies in primary myelofibrosis and other hematopoietic disorders: consequences for therapy. ( 29400094 )
2018
31
Prognostic risk models for transplant decision-making in myelofibrosis. ( 29396714 )
2018
32
Diagnosis and management of prefibrotic myelofibrosis. ( 29862872 )
2018
33
An unusual presentation of primary myelofibrosis. ( 29933872 )
2018
34
Predicting pathogenic genes for primary myelofibrosis based on a systema89network approach. ( 29115418 )
2018
35
Comparison of reduced intensity conditioning regimens used in patients undergoing hematopoietic stem cell transplantation for myelofibrosis. ( 29795431 )
2018
36
Primary myelofibrosis but not autoimmune myelofibrosis accompanied by SjAPgren's syndrome and primary biliary cirrhosis in a patient with trisomy 8 mosaic: a case report and literature review. ( 29745886 )
2018
37
Validation of the WHO-defined 20% circulating blasts threshold for diagnosis of leukemic transformation in primary myelofibrosis. ( 29891917 )
2018
38
Peritransplantation Ruxolitinib Prevents Acute Graft-versus-Host Disease in Patients with Myelofibrosis Undergoing Allogenic Stem Cell Transplantation. ( 29800615 )
2018
39
Understanding Splenomegaly in Myelofibrosis: Association with Molecular Pathogenesis. ( 29562644 )
2018
40
Captopril mitigates splenomegaly and myelofibrosis in the Gata1<sup>low</sup> murine model of myelofibrosis. ( 29971909 )
2018
41
Prognostic implications of low transferrin saturation in patients with primary myelofibrosis. ( 29407589 )
2018
42
Aggressive B-cell lymphomas in patients with myelofibrosis receiving JAK1/2 inhibitor therapy. ( 29907599 )
2018
43
Neutropenia caused by hairy cell leukemia in a patient with myelofibrosis secondary to polycythemia vera: a case report. ( 29685167 )
2018
44
Comparison of the Mutational Profiles of Primary Myelofibrosis, Polycythemia Vera, and Essential Thrombocytosis. ( 28419183 )
2017
45
Intravascular large B-cell lymphoma associated with myelofibrosis: A case report. ( 29075489 )
2017
46
Pre-fibrotic/early primary myelofibrosis vs. WHO-defined essential thrombocythemia: The impact of minor clinical diagnostic criteria on the outcome of the disease. ( 28543356 )
2017
47
[Clinical features of essential thrombocythemia and primary myelofibrosis, depending on the molecular characteristics of disease]. ( 28766534 )
2017
48
Clinical course and outcome of essential thrombocythemia and prefibrotic myelofibrosis according to the revised WHO 2016 diagnostic criteria. ( 29254200 )
2017
49
Leptin-receptor-expressing bone marrow stromal cells are myofibroblasts in primary myelofibrosis. ( 28481328 )
2017
50
Impact of molecular residual disease post allografting in myelofibrosis patients. ( 28714945 )
2017

Variations for Myelofibrosis

UniProtKB/Swiss-Prot genetic disease variations for Myelofibrosis:

75
# 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
(show all 14)
# 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.1514G> A (p.Ser505Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121913614 GRCh38 Chromosome 1, 43349308: 43349308
3 MPL NM_005373.2(MPL): c.1544G> T (p.Trp515Leu) single nucleotide variant Pathogenic rs121913615 GRCh37 Chromosome 1, 43815009: 43815009
4 MPL NM_005373.2(MPL): c.1544G> T (p.Trp515Leu) single nucleotide variant Pathogenic rs121913615 GRCh38 Chromosome 1, 43349338: 43349338
5 MPL NM_005373.2(MPL): c.1543_1544delTGinsAA (p.Trp515Lys) indel Pathogenic rs121913616 GRCh37 Chromosome 1, 43815008: 43815009
6 MPL NM_005373.2(MPL): c.1543_1544delTGinsAA (p.Trp515Lys) indel Pathogenic rs121913616 GRCh38 Chromosome 1, 43349337: 43349338
7 JAK2 NM_004972.3(JAK2): c.1849G> T (p.Val617Phe) single nucleotide variant Pathogenic rs77375493 GRCh37 Chromosome 9, 5073770: 5073770
8 JAK2 NM_004972.3(JAK2): c.1849G> T (p.Val617Phe) single nucleotide variant Pathogenic rs77375493 GRCh38 Chromosome 9, 5073770: 5073770
9 SH2B3 NM_005475.2(SH2B3): c.603_607delGCGCT (p.Arg202Glnfs) deletion Pathogenic rs587776885 GRCh37 Chromosome 12, 111856552: 111856556
10 SH2B3 NM_005475.2(SH2B3): c.603_607delGCGCT (p.Arg202Glnfs) deletion Pathogenic rs587776885 GRCh38 Chromosome 12, 111418748: 111418752
11 CALR NM_004343.3(CALR): c.1092_1143del52 (p.Leu367Thrfs) deletion Pathogenic GRCh37 Chromosome 19, 13054565: 13054616
12 CALR NM_004343.3(CALR): c.1092_1143del52 (p.Leu367Thrfs) deletion Pathogenic GRCh38 Chromosome 19, 12943751: 12943802
13 ATG2B; BDKRB1; BDKRB2; C14orf132; GSKIP; LOC107984703; TCL1A; TUNAR NC_000014.9: g.95696766_96390792dup duplication Likely pathogenic GRCh37 Chromosome 14, 96163103: 96857129
14 ATG2B; BDKRB1; BDKRB2; C14orf132; GSKIP; LOC107984703; TCL1A; TUNAR NC_000014.9: g.95696766_96390792dup duplication Likely pathogenic GRCh38 Chromosome 14, 95696766: 96390792

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:

37
# 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
13.27 BMP6 EPO FGF2 JAK2 KIT MPL
2 12.61 EPO FGF2 JAK2 KIT STAT5B
3
Show member pathways
12.32 EPO JAK2 MPL STAT5B THPO
4 12.28 GATA1 JAK2 KIT MPL STAT5B
5 11.67 EPO KIT THPO
6
Show member pathways
11.56 EPO JAK2 KIT SH2B3 STAT5B
7 11.53 JAK2 MPL STAT5B THPO
8 11.47 BMP6 FGF2 STAT5B
9
Show member pathways
11.44 EPO JAK2 SH2B3 STAT5B
10 11.43 FGF2 FKBP5 TET2
11 11.26 EPO FGF2 KIT
12 11.09 EPO KIT MPL SH2B3 THPO
13 10.82 JAK2 STAT5B
14 10.73 KIT SH2B3

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 BMP6 CALR EPO FGF2 KIT MIR146B

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.96 EPO GATA1 HMGA2 KIT STAT5B
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.83 EPO FGF2 KIT THPO
3 blood coagulation GO:0007596 9.78 CD177 GATA1 JAK2 SH2B3
4 cytokine-mediated signaling pathway GO:0019221 9.77 FGF2 JAK2 KIT MPL STAT5B
5 peptidyl-tyrosine phosphorylation GO:0018108 9.76 FGF2 JAK2 KIT STAT5B
6 positive regulation of DNA binding transcription factor activity GO:0051091 9.74 HMGA2 JAK2 KIT
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.67 EPO JAK2 KIT
8 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.55 JAK2 STAT5B
9 cellular response to thyroid hormone stimulus GO:0097067 9.54 GATA1 KIT
10 positive regulation of phospholipase C activity GO:0010863 9.51 FGF2 KIT
11 positive regulation of cell proliferation GO:0008284 9.5 BMP6 CALR EPO FGF2 JAK2 KIT
12 negative regulation of intracellular steroid hormone receptor signaling pathway GO:0033144 9.43 CALR HMGA2
13 myeloid cell differentiation GO:0030099 9.43 GATA1 TET2 THPO
14 erythropoietin-mediated signaling pathway GO:0038162 9.4 EPO KIT
15 embryonic hemopoiesis GO:0035162 9.33 GATA1 KIT SH2B3
16 thrombopoietin-mediated signaling pathway GO:0038163 9.32 MPL THPO
17 erythrocyte differentiation GO:0030218 8.92 EPO GATA1 JAK2 KIT

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.54 CALR CD177 FGF2
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.5 FGF2 JAK2 KIT
3 DNA binding, bending GO:0008301 9.26 GATA1 HMGA2
4 cytokine activity GO:0005125 9.26 BMP6 EPO FGF2 THPO
5 C2H2 zinc finger domain binding GO:0070742 9.16 GATA1 HMGA2
6 protein tyrosine kinase activity GO:0004713 8.92 FGF2 JAK2 KIT STAT5B

Sources for Myelofibrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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