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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08758 | Annexin A5 |
