thrombocytopenia 12 with or without myopathy
MONDO:0958325
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.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.