platelet-type bleeding disorder 17
Findings
No curated finding names platelet-type bleeding disorder 17 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A platelet type bleeding disorder caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a reduction in platelet count, often accompanied by enlarged platelets and abnormalities in α-granule formation, platelet surface CD34 expression, and variable defects in platelet aggregation that together produce a mild to moderate bleeding tendency.
Definition from the Mondo Disease Ontology (MONDO:0008553), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
12 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
- 6 of 6 reported patients
- Absence of alpha granulesHPOHP:0012526
- 12 of 12 reported patients
- Bruising susceptibilityHPOHP:0000978
- 8 of 8 reported patients · Childhood onset
- EpistaxisHPOHP:0000421
- 8 of 8 reported patients · Childhood onset
- Impaired collagen-induced platelet aggregationHPOHP:0008320
- 3 of 3 reported patients
- Impaired epinephrine-induced platelet aggregationHPOHP:0008148
- 2 of 2 reported patients
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.
- GFI1BHGNC:4238
- Definitive · ClinGen · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: platelet-type bleeding disorder 17
- Also called
- BDPLT17bleeding disorder, platelet-type 17GFI1B inherited bleeding disorder, platelet-typeGFI1B-related thrombocytopeniainherited bleeding disorder, platelet-type caused by mutation in GFI1B