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thrombocytopenia 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thrombocytopenia 6

MONDO:0014837

Also known as:hereditary thrombocytopenia with early-onset myelofibrosisthrombocytopenia type 6THC6

Overview

GeneticsAutosomal dominant · SRC (chr 20)

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 sometimes findings: Weak and brittle bones (osteoporosis). 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Abnormal bleeding tendency (abnormal bleeding), Low platelet count (thrombocytopenia)

Genetic Landscape

SRC function has not been fully characterized.

Thrombocytopenia 6 has been associated with mutations in the SRC gene on chromosome 20.

Diagnosis

Genetic testing for SRC is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for thrombocytopenia 6 has been reported in the published literature.

Prognosis

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 thrombocytopenia 6.

165 publications have been identified in PubMed for thrombocytopenia 6. Research spans Clinical Trial Publication (28%), Epidemiology / Natural History (20%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Clinical study results	46	28%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 5:35 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616937

Orphanet

European rare disease database

Orphanet:480851

GARD

Genetic and Rare Diseases Info Center

GARD:17870

Questions for Your Care Team

→Should I pursue genetic testing for SRC, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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thrombocytopenia 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

thrombocytopenia 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications