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Essential thrombocythemia
3 OMIM references -
5 associated genes
471 connected diseases
17 signs/symptoms
Disease Type of connection
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Familial thrombocytosis
Precursor B-cell acute lymphoblastic leukemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Budd-Chiari syndrome
B-cell chronic lymphocytic leukemia
Li-Fraumeni syndrome
Congenital amegakaryocytic thrombocytopenia
Acquired idiopathic sideroblastic anemia
Acute myeloid leukemia with multilineage dysplasia
Adrenocortical carcinoma
Papilloma of choroid plexus
Refractory anemia
Refractory anemia with excess blasts
Blackfan-Diamond anemia
Hereditary breast and ovarian cancer syndrome
Precursor T-cell acute lymphoblastic leukemia
Amyotrophic lateral sclerosis
Acute promyelocytic leukemia
Coffin-Siris syndrome
Familial prostate cancer
Young adult-onset Parkinsonism
Familial rhabdoid tumor
Chronic myeloid leukemia
Multiple endocrine neoplasia type 1
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
3M syndrome
46,XY partial gonadal dysgenesis
LEOPARD syndrome
Noonan syndrome
Distal 22q11.2 microdeletion syndrome
Papillary or follicular thyroid carcinoma
Athyreosis
Thyroid hypoplasia
Familial isolated dilated cardiomyopathy
Hypohidrotic ectodermal dysplasia with immunodeficiency
Familial thoracic aortic aneurysm and aortic dissection
COFS syndrome
Trichothiodystrophy
Primary peritoneal carcinoma
Acute myeloblastic leukemia with maturation
Glucocorticoid resistance
Squamous cell carcinoma of head and neck
Split hand-split foot malformation
Angelman syndrome
Familial advanced sleep-phase syndrome
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Retinitis pigmentosa
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
UV-sensitive syndrome
Autosomal agammaglobulinemia
Melanoma of soft part
Atypical teratoid tumor
Familial multiple meningioma
Neuroblastoma
Neurofibromatosis type 3
Autosomal dominant progressive external ophthalmoplegia
Pilocytic astrocytoma
Complete androgen insensitivity syndrome
Desmoplastic small round cell tumor
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Juvenile myelomonocytic leukemia
Metachondromatosis
Piebaldism
Immunodeficiency by defective expression of HLA class 1
Renal tubular dysgenesis of genetic origin
Chuvash erythrocytosis
Follicular lymphoma
Intravascular large B-cell lymphoma
Von Hippel-Lindau disease
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Hypothyroidism due to TSH receptor mutations
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Osteogenesis imperfecta type 3
Behçet disease
Autosomal dominant hypohidrotic ectodermal dysplasia
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Oligodontia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Glycogen storage disease due to liver phosphorylase kinase deficiency
Septo-optic dysplasia
Common variable immunodeficiency
Growth delay due to insulin-like growth factor I resistance
Romano-Ward syndrome
X-linked non-syndromic intellectual deficit
Inflammatory myofibroblastic tumor
Shprintzen-Goldberg syndrome
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
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Bloom syndrome
Branchio-oculo-facial syndrome
Combined cervical dystonia
Congenital pulmonary alveolar proteinosis
Familial congenital mirror movements
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Huntington disease
Intellectual deficit, X-linked, Nascimento type
Juvenile Huntington disease
Mantle cell lymphoma
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Seckel syndrome
Spinocerebellar ataxia type 17
Werner syndrome
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Dystonia 16
Fanconi anemia
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Pontocerebellar hypoplasia type 1
SHORT syndrome
Xeroderma pigmentosum complementation group B
Autosomal recessive cutis laxa type 1
Estrogen resistance syndrome
Intermittent hydrarthrosis
Isolated brachycephaly
Isolated scaphocephaly
Lethal arteriopathy syndrome due to FBLN4 deficiency
Saethre-Chotzen syndrome
Severe combined immunodeficiency due to DNA-PKcs deficiency
Spinocerebellar ataxia type 26
TRAPS syndrome
Xeroderma pigmentosum complementation group D
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Bannayan-Riley-Ruvalcaba syndrome
Chronic mucocutaneous candidiasis
Cowden syndrome
Distal hereditary motor neuropathy type 2
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Juvenile polyposis of infancy
Kearns-Sayre syndrome
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Mitochondrial neurogastrointestinal encephalomyopathy
Osteosarcoma
Proteus syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Susceptibility to viral and mycobacterial infections
17p13.3 microduplication syndrome
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
Denys-Drash syndrome
Distal 17p13.3 microdeletion syndrome
Early-onset autosomal dominant Alzheimer disease
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Frasier syndrome
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
Intellectual deficit, X-linked, Turner type
Meacham syndrome
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Miller-Dieker syndrome
Nephroblastoma
Peutz-Jeghers syndrome
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
WAGR syndrome
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
Hyperinsulinism due to HNF4A deficiency
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
MODY syndrome
Nodular urticaria pigmentosa
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
Developmental delay with autism spectrum disorder and gait instability
Homozygous familial hypercholesterolemia
Laron syndrome
Short stature due to partial GHR deficiency
X-linked dystonia-parkinsonism
Aneurysm - osteoarthritis syndrome
Familial melanoma
Generalized resistance to thyroid hormone
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Lennox-Gastaut syndrome
Leprechaunism
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Peripheral resistance to thyroid hormones
Rabson-Mendenhall syndrome
Selective pituitary resistance to thyroid hormone
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Hypotonia with lactic acidemia and hyperammonemia
Syndromic multisystem autoimmune disease due to Itch deficiency
Cerebellar ataxia - hypogonadism
Granulomatosis with polyangiitis
Ataxia - oculomotor apraxia type 1
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
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Paroxysmal exertion-induced dyskinesia
Familial afibrinogenemia
Familial dysfibrinogenemia
Familial hypodysfibrinogenemia
Familial hypofibrinogenemia
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Hyper-IgM syndrome type 3
Congenital atransferrinemia
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Constitutional megaloblastic anemia with severe neurologic disease
Hypocalcemic vitamin D-resistant rickets
Obesity due to leptin receptor gene deficiency
Paternal uniparental disomy of chromosome 6
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Transient neonatal diabetes mellitus
Alpha-crystallinopathy
Cerebellar ataxia-deafness-narcolepsy syndrome
Cerebral sinovenous thrombosis
Congenital factor V deficiency
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
East Texas bleeding disorder
Fatal infantile hypertonic myofibrillar myopathy
Keratosis follicularis spinulosa decalvans
Multiple endocrine neoplasia type 4
Posterior polar cataract
Prader-Willi syndrome due to translocation
Purine nucleoside phosphorylase deficiency
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
Zonular cataract
Burkitt lymphoma
Cornelia de Lange syndrome
Endocrine-cerebro-osteodysplasia syndrome
Ethylmalonic encephalopathy
Familial retinoblastoma
Juvenile rheumatoid factor-negative polyarthritis
Monosomy 13q14
Oligoarticular juvenile arthritis
Unilateral retinoblastoma
Wilson-Turner syndrome
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Williams syndrome
Combined immunodeficiency due to STK4 deficiency
Bilateral striopallidodentate calcinosis
Cabezas syndrome
Chronic myelomonocytic leukemia
Desmosterolosis
Familial lipoprotein lipase deficiency
Hyperlipoproteinemia type 5
Hypodontia - dysplasia of nails
Idiopathic hypereosinophilic syndrome
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Systemic-onset juvenile idiopathic arthritis
Unclassified chronic myeloproliferative disease
17q11 microdeletion syndrome
1p36 deletion syndrome
22q11.2 deletion syndrome
46,XY complete gonadal dysgenesis
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
Alpha-thalassemia - X-linked intellectual deficit syndrome
Alpha-thalassemia - myelodysplastic syndrome
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Anophthalmia / microphthalmia - esophageal atresia
Atelosteogenesis type I
Atelosteogenesis type III
Autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome with recurrent infections
Autosomal dominant Larsen syndrome
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant severe congenital neutropenia
Autosomal dominant spastic paraplegia type 13
Autosomal recessive limb-girdle muscular dystrophy type 2S
Autosomal recessive nonsyndromic intellectual deficit
Autosomal recessive primary microcephaly
Autosomal recessive spastic paraplegia type 45
Autosomal recessive systemic lupus erythematosus
Baraitser-Winter syndrome
Boomerang dysplasia
CLN5 disease
Carpenter-Waziri syndrome
Catecholaminergic polymorphic ventricular tachycardia
Chudley-Lowry-Hoar syndrome
Cleidocranial dysplasia
Colobomatous microphthalmia
Congenital communicating hydrocephalus
Congenital fibrosis of extraocular muscles
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Costello syndrome
Developmental malformations - deafness - dystonia
Dubowitz syndrome
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
FTH1-related iron overload
Familial cortical myoclonus
Familial short QT syndrome
Fatal infantile cytochrome C oxidase deficiency
GCS1-CDG
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Hartsfield-Bixler-Demyer syndrome
Holmes-Gang syndrome
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Hypotrichosis simplex
Infantile onset spinocerebellar ataxia
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Isolated ATP synthase deficiency
Isolated anophthalmia - microphthalmia
Isolated trigonocephaly
Juberg-Marsidi syndrome
Kallmann syndrome
Leigh syndrome with cardiomyopathy
Lethal congenital contracture syndrome type 2
Linear nevus sebaceus syndrome
Lissencephaly due to TUBA1A mutation
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Moyamoya disease
Muscular dystrophy, Selcen type
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Omenn syndrome
Osteoglophonic dwarfism
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Peters anomaly
Pfeiffer syndrome type 1
Phakomatosis pigmentokeratotica
Rare isolated myopia
Schimke immuno-osseous dysplasia
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Smith-Fineman-Myers syndrome
Solitary fibrous tumor
Spinocerebellar ataxia type 18
Spondylocarpotarsal synostosis
T-B+ severe combined immunodeficiency due to gamma chain deficiency
Tetralogy of Fallot
Waardenburg syndrome type 2
Xeroderma pigmentosum complementation group C
Hereditary thrombocytosis with transverse limb defect
Kleefstra syndrome due to 9q34 microdeletion
Kleefstra syndrome due to a point mutation
Mild hemophilia A
Moderately severe hemophilia A
Severe hemophilia A
Symptomatic form of hemophilia A in female carriers
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Focal facial dermal dysplasia
Incontinentia pigmenti
Methylmalonic acidemia with homocystinuria, type cblX
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Zollinger-Ellison syndrome
Atypical chronic myeloid leukemia
Chronic neutrophilic leukemia
Hereditary neutrophilia
Null syndrome
Pelizaeus-Merzbacher disease in female carriers
Pelizaeus-Merzbacher disease, classic form
Pelizaeus-Merzbacher disease, connatal form
Pelizaeus-Merzbacher disease, transitional form
Spastic paraplegia type 2
17q21.31 microdeletion syndrome
Acromicric dysplasia
Acute necrotizing encephalopathy of childhood
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
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Familial acute necrotizing encephalopathy
Familial primary localized cutaneous amyloidosis
Fetal and neonatal alloimmune thrombocytopenia
Geleophysic dysplasia
Glanzmann thrombasthenia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Intermediate nemaline myopathy
Isolated ectopia lentis
Koolen-De Vries syndrome due to a point mutation
Marfan syndrome type 1
Neonatal Marfan syndrome
PLCG2-associated antibody deficiency and immune dysregulation
Progeroid and marfanoid aspect-lipodystrophy syndrome
Severe congenital nemaline myopathy
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Spinocerebellar ataxia type 12
Stiff skin syndrome
Typical nemaline myopathy
Weaver syndrome
Weill-Marchesani syndrome
X-linked agammaglobulinemia
X-linked hyper-IgM syndrome
Chorioretinopathy, Birdshot type
Isolated polycystic liver disease
Pachyonychia congenita
Sebocystomatosis
Synonym(s):
- ET
- Essential thrombocytosis

Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease

Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: sporadic
External references:
3 OMIM references -
1 MeSH reference: D013920

Very frequent
- Acute ischemic syndrome
- Angor pectoris / myocardial infarction
- Arterial embolism / thrombosis
- Bone marrow anomalies
- Cerebral vascular anomalies
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Platelet disorders / thrombopathies
- Platelets shape anomalies
- Thoracic / chest pain
- Transient amaurosis / acute visual trouble
- Transient cerebral ischemia / stroke
- Venous thrombosis / phlebitis / thrombophlebitis

Frequent
- Splenomegaly

Occasional
- Acute leukemia
- Myelodysplastic syndrome
- Myeloproliferative syndrome / chronic leukemia