thrombocytopenia 4
MONDO:0012775Mondo
Findings
No curated finding names thrombocytopenia 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.
Definition from the Mondo Disease Ontology (MONDO:0012775), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
1 feature
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 platelet volumeHPOHP:0011876
- 0 of 29 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.
- CYCSHGNC:19986
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Limited · ClinGen · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: thrombocytopenia 4
- Also called
- CYCS thrombocytopeniathrombocytopenia caused by mutation in CYCSthrombocytopenia type 4