Scott syndrome

Term ID

DOID:0111052

Synonyms

• BDPLT7
• 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
• SCTS

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. (2)

References

• GARD:4777
• MESH:C563120
• OMIM:262890
• ORDO:806
• SNOMEDCT_US_2023_03_01:128098009
• UMLS_CUI:C0796149

Ontology

Human Disease   ( DOID:0111052 )