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1 OMIM reference -
1 associated gene
15 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
3 OMIM references -
5 associated genes
17 signs/symptoms
Primary familial polycythemia
Essential thrombocythemia

EPOR CALR
JAK2
MPL
TET2
TP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EPOR
(0.96)
JAK2



Citations in the biomedical literature:


Primary familial polycythemia
EPOR
Essential thrombocythemia
CALR JAK2 MPL TET2 TP53



Primary familial polycythemia
Essential thrombocythemia

Synonym(s):
- Congenital erythrocytosis due to erythropoietin receptor mutation
- Congenital polycythemia due to erythropoietin receptor mutation
- Familial erythrocytosis
- PFCP
- Primary congenital erythrocytosis
- Primary familial and congenital polycythemia

Synonym(s):
- ET
- Essential thrombocytosis

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Neoplasms -

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

External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D013920


COMMON
SIGNS
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Transient cerebral ischemia / stroke
- Venous thrombosis / phlebitis / thrombophlebitis


Primary familial polycythemia
Essential thrombocythemia

Very frequent
- Asthenia / fatigue / weakness
- Dizziness
- Epistaxis / nose bleeding
- Facial pain / cephalalgia / migraine
- Hemoglobinosis / hemoglobinopathy
- Red cell disorders
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Frequent
- Acute abdominal pain / colic
- Articular / joint pain / arthralgia
- Pruritus / itching

Occasional
- Apnea / sleep apnea
- Cough


Very frequent
- Acute ischemic syndrome
- Angor pectoris / myocardial infarction
- Arterial embolism / thrombosis
- Bone marrow anomalies
- Cerebral vascular anomalies
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Platelet disorders / thrombopathies
- Platelets shape anomalies
- Thoracic / chest pain
- Transient amaurosis / acute visual trouble

Frequent
- Splenomegaly

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