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4 OMIM references -
3 associated genes
26 signs/symptoms
COMMON GENES: 2
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 10
1 OMIM reference -
3 associated genes
25 signs/symptoms
Familial thrombocytosis
Polycythemia vera

JAK2 JAK2
MPL MPL
THPO TET2


COMMON
GENES
JAK2
MPL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
JAK2
THPO
(0.66)
(0.62)
MPL
MPL



Citations in the biomedical literature:


Familial thrombocytosis
JAK2 MPL THPO
Polycythemia vera
TET2



Familial thrombocytosis
Polycythemia vera

Synonym(s):
- Familial thrombocythemia
- Hereditary thrombocythemia

Synonym(s):
- Acquired primary erythocytosis
- Erythremia
- Osler-Vaquez disease
- PV
- Polycythemia rubra vera
- Vaquez disease

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: sporadic

External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D011087


COMMON
SIGNS
- Acute leukemia
- Arterial embolism / thrombosis
- Dizziness
- Facial pain / cephalalgia / migraine
- Myelodysplastic syndrome
- Pruritus / itching
- Splenomegaly
- Transient cerebral ischemia / stroke
- Venous thrombosis / phlebitis / thrombophlebitis
- Weight loss / loss of appetite / break in weight curve / general health alteration


Familial thrombocytosis
Polycythemia vera

Very frequent
- Autosomal dominant inheritance
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Platelet disorders / thrombopathies
- Platelets shape anomalies

Frequent
- Acute ischemia of the lower limbs
- Acute ischemic syndrome
- Hyperhidrosis / increased sweating
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Thoracic / chest pain

Occasional
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Early death / lethality
- Elocution disorders / dysarthria / dysphonia
- Myeloproliferative syndrome / chronic leukemia
- Pulmonary hypertension
- Seizures / epilepsy / absences / spasms / status epilepticus
- Spontaneous abortions


Very frequent
- Acute abdominal pain / colic
- Angor pectoris / myocardial infarction
- Chronic arterial hypertension
- Ecchymoses
- Epistaxis / nose bleeding
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Gingivorrhagia / gingival bleeding
- Hepatomegaly / liver enlargement (excluding storage disease)
- Tinnitus

Frequent
- Articular / joint pain / arthralgia
- Asthenia / fatigue / weakness
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Occasional
- Claudication / pain on mastication / while chewing
- Portal hypertension