thrombocytopenia 12 with or without myopathy
Findings
No curated finding names thrombocytopenia 12 with or without myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited thrombocytopenia caused by a variation in the GNE gene, characterized by reduced platelet count, enlarged platelets, and a bleeding tendency, with onset in childhood or early adulthood. Clinical studies describe abnormal megakaryocyte maturation and a defect in platelet surface sialylation, resulting from impaired activity of the bifunctional GNE enzyme responsible for the initial steps of sialic-acid biosynthesis. Additional work in patient-derived cells shows altered GNE protein expression and reduced surface sialylation, leading to defective proplatelet formation and shortened platelet survival.
Definition from the Mondo Disease Ontology (MONDO:0958325), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Childhood onset
HPO, annotations 2026-09-02
Features
11 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
- 9 of 9 reported patients
- Increased mean platelet volumeHPOHP:0011877
- 12 of 12 reported patients
- MenorrhagiaHPOHP:0000132
- 5 of 5 reported patients · Female
- PetechiaeHPOHP:0000967
- 2 of 2 reported patients
- Spontaneous, recurrent epistaxisHPOHP:0004406
- 1 of 1 reported patient
- ThrombocytopeniaHPOHP:0001873
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.
- GNEHGNC:23657
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- Narrower terms (1)
Other names
1 name
Resolves to: thrombocytopenia 12 with or without myopathy
- Also called
- GNE-related macrothrombocytopenia