platelet-type bleeding disorder 20
Findings
No curated finding names platelet-type bleeding disorder 20 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene, characterized by moderate thrombocytopenia, enlarged platelets in some individuals, and a mucocutaneous bleeding diathesis including bruising, epistaxis, gum bleeding, menorrhagia, and postpartum hemorrhage. Human platelet studies consistently show reduced aggregation in response to ADP, collagen, and PAR-1, accompanied by decreased ATP secretion and markedly reduced dense-granule numbers, indicating a secretion defect. SLFN14 missense variants impair protein stability and disrupt ribosomal RNA-regulatory pathways in megakaryocytes, leading to defective proplatelet formation, impaired megakaryocyte maturation, and reduced platelet output.
Definition from the Mondo Disease Ontology (MONDO:0014830), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 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.
- ThrombocytopeniaHPOHP:0001873
- 8 of 8 reported patients
- Bruising susceptibilityHPOHP:0000978
- EpistaxisHPOHP:0000421
- MenorrhagiaHPOHP:0000132
Genes
1 gene
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.
- SLFN14HGNC:32689
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · ClinGen · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: platelet-type bleeding disorder 20
- Also called
- autosomal dominant thrombocytopenia with platelet secretion defectBDPLT20bleeding disorder, platelet-type, 20inherited bleeding disorder, platelet-type caused by mutation in SLFN14SLFN14 inherited bleeding disorder, platelet-typeSLFN14-related thrombocytopenia