bleeding disorder, platelet-type, 13, susceptibility to
MONDO:0800447Mondo
Findings
No curated finding names bleeding disorder, platelet-type, 13, susceptibility to yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
6 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.
- Bruising susceptibilityHPOHP:0000978
- 1 of 1 reported patient
- EcchymosisHPOHP:0031364
- 1 of 1 reported patient
- EpistaxisHPOHP:0000421
- 1 of 1 reported patient
- Impaired arachidonic acid-induced platelet aggregationHPOHP:0011870
- 1 of 1 reported patient
- Impaired thromboxane A2 agonist-induced platelet aggregationHPOHP:0011894
- 4 of 4 reported patients
- Abnormal platelet countHPOHP:0011873
- 0 of 1 reported patient
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.
- TBXA2RHGNC:11608
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: bleeding disorder, platelet-type, 13, susceptibility to
- Also called
- BDPLT13bleeding disorder, susceptibility to, due to defective platelet thromboxane A2 receptorsusceptibility to platelet-type bleeding disorder 13