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GTR Home > Conditions/Phenotypes > SCOTT SYNDROME

SCOTT SYNDROME

Synonyms
BLEEDING ABNORMALITY DUE TO DEFICIENCY OF PLATELET BINDING OF FACTOR X; BLEEDING DISORDER, PLATELET-TYPE, 7; PROTHROMBIN CONSUMPTION DEFICIENCY; PROTHROMBIN CONSUMPTION INHIBITOR, FAMILIAL; PROTHROMBIN CONVERSION DEFECT, FAMILIAL; Platelet factor X receptor deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Scott syndrome (SCTS) is a mild platelet-type bleeding disorder characterized by impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents (Munnix et al., 2003). [from OMIM]

Available tests

24 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BDPLT7, SCTS, TMEM16F, ANO6
    Summary: anoctamin 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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