Scott syndrome

Summary
Synonym
  • BDPLT7
  • SCTS
  • bleeding abnormality due to deficiency of platelet biding of factor X
  • familial prothrombin consumption inhibitor
  • familial prothrombin conversion defect
  • platelet-type bleeding disorder 7
  • prothrombin consumption deficiency
Definition
A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12.
Super Class
blood coagulation disease
External Links
Disease Ontology
DOID:0111052
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
308 ANXA5 annexin A5
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P08758 Annexin A5

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024