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Familial thrombocytosis
4 OMIM references -
3 associated genes
135 connected diseases
26 signs/symptoms
Disease Type of connection
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Congenital amegakaryocytic thrombocytopenia
Budd-Chiari syndrome
Hereditary thrombocytosis with transverse limb defect
LEOPARD syndrome
Noonan syndrome
Giant cell glioblastoma
Acute promyelocytic leukemia
Pilocytic astrocytoma
Juvenile myelomonocytic leukemia
Behçet disease
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
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
Autosomal agammaglobulinemia
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
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
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
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
Laron syndrome
Short stature due to partial GHR deficiency
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Rabson-Mendenhall syndrome
Renal tubular dysgenesis of genetic origin
Granulomatosis with polyangiitis
Obesity due to leptin receptor gene deficiency
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Hypothyroidism due to TSH receptor mutations
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 4
Thyroid hypoplasia
WHIM syndrome
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Williams syndrome
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Distal 22q11.2 microdeletion syndrome
Idiopathic hypereosinophilic syndrome
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Acute neonatal citrullinemia type I
Adult-onset citrullinemia type I
Autosomal dominant hypohidrotic ectodermal dysplasia
Catecholaminergic polymorphic ventricular tachycardia
Chuvash erythrocytosis
Familial isolated dilated cardiomyopathy
Hartsfield-Bixler-Demyer syndrome
Inflammatory myofibroblastic tumor
Isolated trigonocephaly
Kallmann syndrome
Lethal congenital contracture syndrome type 2
Muscular dystrophy, Selcen type
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Omenn syndrome
Osteoglophonic dwarfism
Pfeiffer syndrome type 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Septo-optic dysplasia
T-B+ severe combined immunodeficiency due to gamma chain deficiency
Von Hippel-Lindau disease
Growth delay due to insulin-like growth factor I resistance
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Atypical chronic myeloid leukemia
Behavioral variant of frontotemporal dementia
Chronic neutrophilic leukemia
Hereditary neutrophilia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Familial primary localized cutaneous amyloidosis
PLCG2-associated antibody deficiency and immune dysregulation
Weaver syndrome
- Familial thrombocythemia
- Hereditary thrombocythemia

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

Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
JAK2 O60674147796
MPL P40238159530
THPO P40225600044
Very frequent
- Arterial embolism / thrombosis
- Autosomal dominant inheritance
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Platelet disorders / thrombopathies
- Platelets shape anomalies
- Venous thrombosis / phlebitis / thrombophlebitis

- Acute ischemia of the lower limbs
- Acute ischemic syndrome
- Facial pain / cephalalgia / migraine
- Hyperhidrosis / increased sweating
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Pruritus / itching
- Splenomegaly
- Thoracic / chest pain
- Transient cerebral ischemia / stroke

- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Acute leukemia
- Dizziness
- Early death / lethality
- Elocution disorders / dysarthria / dysphonia
- Myelodysplastic syndrome
- Myeloproliferative syndrome / chronic leukemia
- Pulmonary hypertension
- Seizures / epilepsy / absences / spasms / status epilepticus
- Spontaneous abortions
- Weight loss / loss of appetite / break in weight curve / general health alteration