Details of Disease

General Information of Disease (ID: DIS4N4IB)

• Disease Name: Scott syndrome
• Synonyms: bleeding disorder, Platelet-type, 7; prothrombin consumption inhibitor, familial; bleeding Abnormality due to deficiency of Platelet binding of Factor 10; Platelet factor X receptor deficiency; prothrombin conversion defect, familial; bleeding abnormality due to deficiency of platelet biding of factor X; BDPLT7; SCTS; familial prothrombin consumption inhibitor; platelet-type bleeding disorder 7; prothrombin consumption deficiency; familial prothrombin conversion defect; Scott syndrome
• Definition: Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.
• Disease Hierarchy:
  DIS1DL2M: Inherited blood coagulation disorder
  DISIUNXT: Inherited bleeding disorder, platelet-type
  DIS4N4IB: Scott syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009885
  MESH ID: C563120
  UMLS CUI: C0796149
  OMIM ID: 262890
  MedGen ID: 167107
  Orphanet ID: 806
  SNOMED CT ID: 128098009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANO10	OTG3BNOU	Strong	Genetic Variation	[1]
ANO5	OTOW8R6H	Strong	Genetic Variation	[1]
ANO6	OTTA5KQJ	Strong	Autosomal recessive	[2]
MMD	OTB5I4OC	Strong	Genetic Variation	[1]
MYH3	OTOCCGEB	Strong	Genetic Variation	[3]

References

• [1] Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?.Acta Pharmacol Sin. 2011 Jun;32(6):685-92. doi: 10.1038/aps.2011.48.
• [2] Calcium-dependent phospholipid scrambling by TMEM16F. Nature. 2010 Dec 9;468(7325):834-8. doi: 10.1038/nature09583. Epub 2010 Nov 24.
• [3] Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. Am J Hum Genet. 2018 Jun 7;102(6):1115-1125. doi: 10.1016/j.ajhg.2018.04.008. Epub 2018 May 24.