KEGG   DISEASE: Sebastian syndrome
Entry
H02052                      Disease                                
Name
Sebastian syndrome
  Supergrp
MYH9-related disease [DS:H00233]
Macrothrombocytopenia [DS:H01740]
Description
Sebastian platelet syndrome (SPS) is a hereditary giant platelet disorder characterized by thrombocytopenia and the presence of neutrophil inclusions. It has been suggested that mutations in MYH9 result in this disease.
Category
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Coagulation defects, purpura or other haemorrhagic or related conditions
   3B64  Thrombocytopenia
    H02052  Sebastian syndrome
Gene
MYH9 [HSA:4627] [KO:K10352]
Other DBs
ICD-11: 3B64.01
ICD-10: D72.0
OMIM: 605249
Reference
PMID:10973259
  Authors
Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA
  Title
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
  Journal
Nat Genet 26:103-5 (2000)
DOI:10.1038/79063
Reference
PMID:11897048
  Authors
White JG, Mattson JC, Nichols WL, Luban NL, Greinacher A
  Title
A variant of the Sebastian platelet syndrome with unique neutrophil inclusions.
  Journal
Platelets 13:121-7 (2002)
DOI:10.1080/09537100120112549
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