bleeding disorder, platelet-type, 22
MONDO:0032765Mondo
Findings
No curated finding names bleeding disorder, platelet-type, 22 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
9 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.
- Bleeding with minor or no traumaHPOHP:0011889
- 2 of 2 reported patients
- Excessive bleeding from superficial cutsHPOHP:0030138
- 2 of 2 reported patients
- Impaired ADP-induced platelet aggregationHPOHP:0004866
- 2 of 2 reported patients
- Impaired arachidonic acid-induced platelet aggregationHPOHP:0011870
- 2 of 2 reported patients
- Impaired collagen-induced platelet aggregationHPOHP:0008320
- 2 of 2 reported patients
- Subcutaneous hemorrhageHPOHP:0001933
- 2 of 2 reported patients
- Gastrointestinal hemorrhageHPOHP:0002239
- 1 of 2 reported patients
- ThrombocytopeniaHPOHP:0001873
- 1 of 2 reported patients
- Impaired ristocetin-induced platelet aggregationHPOHP:0011871
- 0 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.
- EPHB2HGNC:3393
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021