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4 OMIM references -
3 associated genes
26 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Familial thrombocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

JAK2 KIT
MPL
THPO


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
JAK2
(0.85)
KIT



Citations in the biomedical literature:


Familial thrombocytosis
JAK2 MPL THPO
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
KIT



Familial thrombocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

Synonym(s):
- Familial thrombocythemia
- Hereditary thrombocythemia

Synonym(s):
(no synonyms)

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: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic

External references:
4 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references


COMMON
SIGNS
- Acute leukemia
- Myeloproliferative syndrome / chronic leukemia


Familial thrombocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

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

Frequent
- 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

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


Very frequent
- Eosinophils anomalies / hypereosinophilia
- Mastocytosis