Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

familial thrombocytosis (THCYT) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial thrombocytosis

MONDO:0019111

Also known as:THCYTfamilial thrombocythemiahereditary thrombocythemia

Overview

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.

OnsetADULT

ResearchLimited published research (9 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Abnormal bleeding tendency (abnormal bleeding), Elevated platelet count (thrombocytosis), Arterial thrombosis, and Venous thrombosis; and common findings: Excessive sweating (hyperhidrosis), Pruritus, Enlarged spleen (splenomegaly), and Headache and others. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Headache, Transient ischemic attack, Cerebral ischemia

Diagnosis

Biomarker and diagnostic research for familial thrombocytosis has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 very common features, 9 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for familial thrombocytosis.

9 publications have been identified in PubMed for familial thrombocytosis. Research spans Case Report / Case Series (56%), Basic Science / Preclinical (22%), and Other (11%).

Recent Publications

O'Reilly E (2026). [PMID: 42009590](https://pubmed.ncbi.nlm.nih.gov/42009590/). *Pathology*. [Other]
Kodimyala R (2026). [PMID: 41863814](https://pubmed.ncbi.nlm.nih.gov/41863814/). *Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society*. [Case Report / Case Series]
Meggendorfer M (2025). [PMID: 39323414](https://pubmed.ncbi.nlm.nih.gov/39323414/). *Haematologica*. [Basic Science / Preclinical]
Stewart BL (2025). [PMID: 39657124](https://pubmed.ncbi.nlm.nih.gov/39657124/). *Blood advances*. [Basic Science / Preclinical]
Franco S (2025). [PMID: 41053421](https://pubmed.ncbi.nlm.nih.gov/41053421/). *BJC reports*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:71493

GARD

Genetic and Rare Diseases Info Center

GARD:16688

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

familial thrombocytosis

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features