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platelet-type bleeding disorder 20 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

platelet-type bleeding disorder 20

MONDO:0014830

Also known as:BDPLT20SLFN14 inherited bleeding disorder, platelet-typeautosomal dominant thrombocytopenia with platelet secretion defect

Overview

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene.

GeneticsAutosomal dominant · SLFN14 (chr 17)

Clinical Presentation

Features include always present findings: Low platelet count (thrombocytopenia). 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	1	Low platelet count (thrombocytopenia)

Explore clinical features

Genetic Landscape

SLFN14 function has not been fully characterized.

Platelet-type bleeding disorder 20 has been associated with mutations in the SLFN14 gene on chromosome 17.

Diagnosis

Genetic testing for SLFN14 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for platelet-type bleeding disorder 20 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 platelet-type bleeding disorder 20.

10 publications have been identified in PubMed for platelet-type bleeding disorder 20. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (20%), and Diagnostic / Biomarker (10%).

Research Type	Count	% of Total
Laboratory research	5	50%

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616913

Orphanet

European rare disease database

Orphanet:466806

GARD

Genetic and Rare Diseases Info Center

GARD:18491

Questions for Your Care Team

→Should I pursue genetic testing for SLFN14, 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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platelet-type bleeding disorder 20

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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