thrombocytopenia 10
MONDO:0957578Mondo
Findings
No curated finding names thrombocytopenia 10 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
- Congenital onset
HPO, annotations 2026-09-02
Features
7 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
- 2 of 2 reported patients
- Decreased mean platelet volumeHPOHP:0005537
- 2 of 2 reported patients
- MenorrhagiaHPOHP:0000132
- 1 of 1 reported patient
- ThrombocytopeniaHPOHP:0001873
- 2 of 2 reported patients · Congenital onset
- Bruising susceptibilityHPOHP:0000978
- 1 of 2 reported patients
- PetechiaeHPOHP:0000967
- 1 of 2 reported patients
- Spontaneous, recurrent epistaxisHPOHP:0004406
- 1 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.
- PTPRJHGNC:9673
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · ClinGen · Autosomal recessive · 2024
Where it sits
- A kind of