thrombocytopenia 7
MONDO:0030867Mondo
Findings
No curated finding names thrombocytopenia 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Reduced platelet alpha granulesHPOHP:0033536
- 7 of 7 reported patients
- Reduced platelet dense granulesHPOHP:0033535
- 2 of 2 reported patients
- ThrombocytopeniaHPOHP:0001873
- 23 of 23 reported patients
- Impaired ADP-induced platelet aggregationHPOHP:0004866
- 2 of 5 reported patients
- Impaired arachidonic acid-induced platelet aggregationHPOHP:0011870
- 2 of 5 reported patients
- Impaired collagen-induced platelet aggregationHPOHP:0008320
- 2 of 5 reported patients
- Impaired ristocetin-induced platelet aggregationHPOHP:0011871
- 1 of 5 reported patients
- Post-partum hemorrhageHPOHP:0011891
- 1 of 5 reported patients · Female
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.
- IKZF5HGNC:14283
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2026
Where it sits
- A kind of
Other names
2 names
Resolves to: thrombocytopenia 7
- Also called
- THC7Thrombocytopenia, Autosomal Dominant, 7