H01162 | |
H number | H01162 |
Name | Scott syndrome |
Description | Scott syndrome is a rare autosomal recessive congenital bleeding disorder caused by a defect in blood coagulation. When platelets are activated, a calcium-induced rearrangement of the platelet membrane phospholipids takes place, exposing negatively charged phosphatidylserine (PS) at the outer surface of the platelets, where it can anchor coagulation factors. This phenomenon is mediated by lipid scramblase. In patients with Scott syndrome this mechanism is defective, resulting in impaired blood clotting. A mutation in the gene encoding scramblase TMEM16F has been found. |
Category | Hematologic disease |
Network | - |
Gene | ANO6 [HSA:196527] [KO:K19500] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 3B62.Y ICD-10: D69.8 OMIM: 262890 |
Reference | PMID:18180086 AUTHORS Salles II, Feys HB, Iserbyt BF, De Meyer SF, Vanhoorelbeke K, Deckmyn H TITLE Inherited traits affecting platelet function. JOURNAL Blood Rev 22:155-72 (2008) DOI:10.1016/j.blre.2007.11.002 PMID:21642943 AUTHORS Duran C, Hartzell HC TITLE Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels? JOURNAL Acta Pharmacol Sin 32:685-92 (2011) DOI:10.1038/aps.2011.48 PMID:21107324 AUTHORS Suzuki J, Umeda M, Sims PJ, Nagata S TITLE Calcium-dependent phospholipid scrambling by TMEM16F. JOURNAL Nature 468:834-8 (2010) DOI:10.1038/nature09583 |