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Scott syndrome
rareA blood coagulation disorder caused by a variant in the ANO6 gene, characterized by impaired externalization of phosphatidylserine on activated platelets, resulting in a reduced procoagulant platelet surface, diminished thrombin generation, and mucocutaneous bleeding. Platelet counts and morphology are generally normal, but affected individuals show markedly reduced platelet procoagulant activity with defective membrane scrambling in response to calcium‑dependent stimuli.
- Identifiers
- MONDO:0009885 OMIM:262890Orphanet:806
- Causal genes
- ANO6
- Also known as
- BDPLT7 · Platelet factor X receptor deficiency · prothrombin consumption deficiency · SCTS
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