thrombocytopenia 6
Findings
No curated finding names thrombocytopenia 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndromic constitutional thrombocytopenia caused by a variation in the SRC gene, characterized by congenital thrombocytopenia, small platelets, and an increased bleeding tendency beginning in infancy or childhood. Affected individuals show impaired megakaryocyte maturation, reduced proplatelet formation, and altered cytoskeletal organization in patient-derived megakaryocytes, consistent with dysregulated SRC kinase signaling. Platelet function studies show variable but generally mild platelet defects, with bleeding phenotypes ranging from easy bruising to mucocutaneous bleeding.
Definition from the Mondo Disease Ontology (MONDO:0014837), read 2026-09-29. CC BY 4.0.
- 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.
- Abnormal bleedingHPOHP:0001892
- Bone marrow hypercellularityHPOHP:0031020
- Deeply set eyeHPOHP:0000490
- HypotelorismHPOHP:0000601
- Large foreheadHPOHP:0002003
- MyelofibrosisHPOHP:0011974
- Spontaneous, recurrent epistaxisHPOHP:0004406
- Thrombocytopenia
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.
- SRCHGNC:11283
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
Where it sits
Other names
3 names
Resolves to: thrombocytopenia 6
- Also called
- hereditary thrombocytopenia with early-onset myelofibrosisSRC-related thrombocytopeniaTHC6