familial thrombocytosis
Findings
No curated finding names familial thrombocytosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.
Definition from the Mondo Disease Ontology (MONDO:0019111), read 2026-09-29. CC BY 4.0.
- Onset and course
- Miscarriage
HPO, annotations 2026-09-02
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal bleedingHPOHP:0001892
- Very frequent (80% to 99% of cases)
- Arterial thrombosisHPOHP:0004420
- Very frequent (80% to 99% of cases)
- ThrombocytosisHPOHP:0001894
- Very frequent (80% to 99% of cases)
- Venous thrombosisHPOHP:0004936
- Very frequent (80% to 99% of cases)
- Cerebral ischemiaHPOHP:0002637
- Frequent (30% to 79% of cases)
- Chest painHPOHP:0100749
- Frequent (30% to 79% of cases)
- Headache
Show the remaining 11
- Transient ischemic attackHPOHP:0002326
- Frequent (30% to 79% of cases)
- Acute myeloid leukemiaHPOHP:0004808
- Occasional (5% to 29% of cases)
- Chronic myelogenous leukemiaHPOHP:0005506
- Occasional (5% to 29% of cases)
- DysarthriaHPOHP:0001260
- Occasional (5% to 29% of cases)
- MyelodysplasiaHPOHP:0002863
- Occasional (5% to 29% of cases)
- Pulmonary arterial hypertensionHPOHP:0002092
- Occasional (5% to 29% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- Narrower terms (3)
Other names
5 names
Resolves to: familial thrombocytosis
- Also called
- familial thrombocythemiahereditary thrombocythemiahereditary thrombocytosishereditary thrombocytosis diseaseTHCYT