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Myelofibrosis with myeloid metaplasia
1 OMIM reference -
4 associated genes
241 connected diseases
No signs/symptoms info
Disease Type of connection
Essential thrombocythemia
Polycythemia vera
Familial thrombocytosis
Budd-Chiari syndrome
Congenital amegakaryocytic thrombocytopenia
Acquired idiopathic sideroblastic anemia
Acute myeloid leukemia with multilineage dysplasia
Refractory anemia
Refractory anemia with excess blasts
LEOPARD syndrome
Noonan syndrome
Athyreosis
Thyroid hypoplasia
Giant cell glioblastoma
Gliosarcoma
Precursor B-cell acute lymphoblastic leukemia
Autosomal agammaglobulinemia
Acute promyelocytic leukemia
Pilocytic astrocytoma
Juvenile myelomonocytic leukemia
Metachondromatosis
Immunodeficiency by defective expression of HLA class 1
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Hypothyroidism due to TSH receptor mutations
Behçet disease
Autosomal dominant hypohidrotic ectodermal dysplasia
Chronic myeloid leukemia
Precursor T-cell acute lymphoblastic leukemia
Septo-optic dysplasia
Coffin-Siris syndrome
Familial rhabdoid tumor
Hypohidrotic ectodermal dysplasia with immunodeficiency
Distal 16p11.2 microdeletion syndrome
Proximal 16p11.2 microdeletion syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Primary familial polycythemia
Laron syndrome with immunodeficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Congenital pulmonary alveolar proteinosis
SHORT syndrome
Intermittent hydrarthrosis
TRAPS syndrome
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Autosomal dominant hyper-IgE syndrome
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Complete androgen insensitivity syndrome
Early-onset autosomal dominant Alzheimer disease
Familial hypospadias
Familial pancreatic carcinoma
Familial prostate cancer
Glucocorticoid resistance
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Hereditary site-specific ovarian cancer syndrome
Kennedy disease
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Partial androgen insensitivity syndrome
Primary peritoneal carcinoma
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Cutaneous mastocytoma
Gastrointestinal stromal tumor
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Nodular urticaria pigmentosa
Piebaldism
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
Homozygous familial hypercholesterolemia
Laron syndrome
Short stature due to partial GHR deficiency
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Rabson-Mendenhall syndrome
Renal tubular dysgenesis of genetic origin
Granulomatosis with polyangiitis
Familial hemophagocytic lymphohistiocytosis
Fatal post-viral neurodegenerative disorder
Idiopathic aplastic anemia
Benign familial chorea
Brain-lung-thyroid syndrome
Childhood absence epilepsy
Encephalopathy due to GLUT1 deficiency
Epilepsy with myoclonic-astatic seizures
Hereditary cryohydrocytosis with reduced stomatin
Papillary or follicular thyroid carcinoma
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Paroxysmal exertion-induced dyskinesia
Familial afibrinogenemia
Familial dysfibrinogenemia
Familial hypodysfibrinogenemia
Familial hypofibrinogenemia
Hyper-IgM syndrome type 3
Congenital atransferrinemia
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Obesity due to leptin receptor gene deficiency
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Cerebral sinovenous thrombosis
Congenital factor V deficiency
East Texas bleeding disorder
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 4
Von Willebrand disease type 1
Von Willebrand disease type 2A
Von Willebrand disease type 2B
Von Willebrand disease type 2M
Von Willebrand disease type 2N
Von Willebrand disease type 3
WHIM syndrome
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Williams syndrome
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Distal 22q11.2 microdeletion syndrome
Familial lipoprotein lipase deficiency
Hyperlipoproteinemia type 5
Idiopathic hypereosinophilic syndrome
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
17q11 microdeletion syndrome
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Acute neonatal citrullinemia type I
Adult-onset citrullinemia type I
Alagille syndrome due to 20p12 microdeletion
Alagille syndrome due to a JAG1 point mutation
Anophthalmia / microphthalmia - esophageal atresia
Atelosteogenesis type I
Atelosteogenesis type III
Atypical teratoid tumor
Autosomal dominant Larsen syndrome
Autosomal recessive nonsyndromic intellectual deficit
Boomerang dysplasia
CLN5 disease
Catecholaminergic polymorphic ventricular tachycardia
Chuvash erythrocytosis
Colobomatous microphthalmia
Dedifferentiated liposarcoma
Dubowitz syndrome
Familial isolated dilated cardiomyopathy
Familial multiple meningioma
Familial short QT syndrome
Hartsfield-Bixler-Demyer syndrome
Inflammatory myofibroblastic tumor
Isolated anophthalmia - microphthalmia
Isolated trigonocephaly
Kallmann syndrome
Lethal congenital contracture syndrome type 2
Muscular dystrophy, Selcen type
Myeloid neoplasm associated with FGFR1 rearrangement
Neuroblastoma
Neurofibromatosis type 3
Normosmic congenital hypogonadotropic hypogonadism
Oligodontia
Omenn syndrome
Osteoglophonic dwarfism
Pfeiffer syndrome type 1
Romano-Ward syndrome
Spondylocarpotarsal synostosis
T-B+ severe combined immunodeficiency due to gamma chain deficiency
Tetralogy of Fallot
Von Hippel-Lindau disease
Well-differentiated liposarcoma
Young adult-onset Parkinsonism
Growth delay due to insulin-like growth factor I resistance
Hereditary thrombocytosis with transverse limb defect
Mild hemophilia A
Moderately severe hemophilia A
Severe hemophilia A
Symptomatic form of hemophilia A in female carriers
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Incontinentia pigmenti
Methylmalonic acidemia with homocystinuria, type cblX
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
X-linked non-syndromic intellectual deficit
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Atypical chronic myeloid leukemia
Behavioral variant of frontotemporal dementia
Chronic neutrophilic leukemia
Follicular lymphoma
Hereditary neutrophilia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Intravascular large B-cell lymphoma
Null syndrome
Pelizaeus-Merzbacher disease in female carriers
Pelizaeus-Merzbacher disease, classic form
Pelizaeus-Merzbacher disease, connatal form
Pelizaeus-Merzbacher disease, transitional form
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Spastic paraplegia type 2
Acromicric dysplasia
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Autosomal dominant beta2-microglobulinic amyloidosis
Autosomal dominant macrothrombocytopenia
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Cardiofaciocutaneous syndrome
Familial primary localized cutaneous amyloidosis
Familial thoracic aortic aneurysm and aortic dissection
Fetal and neonatal alloimmune thrombocytopenia
Geleophysic dysplasia
Glanzmann thrombasthenia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Isolated ectopia lentis
Marfan syndrome type 1
Neonatal Marfan syndrome
PLCG2-associated antibody deficiency and immune dysregulation
Progeroid and marfanoid aspect-lipodystrophy syndrome
Shprintzen-Goldberg syndrome
Stiff skin syndrome
Weaver syndrome
Weill-Marchesani syndrome
Chorioretinopathy, Birdshot type
Isolated polycystic liver disease
Pachyonychia congenita
Sebocystomatosis
Synonym(s):
- Agnogenic myeloid metaplasia
- Idiopathic myelofibrosis
- Myelosclerosis with myeloid metaplasia
- Primary myelofibrosis
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Neoplasms -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CALR P27797109091
JAK2 O60674147796
MPL P40238159530
TET2 Q6N021612839
No signs/symptoms info available.