KEGG   DISEASE: May-Hegglin anomaly
Entry
H02051                      Disease                                
Name
May-Hegglin anomaly
  Supergrp
MYH9-related disease [DS:H00233]
Macrothrombocytopenia [DS:H01740]
Description
The May-Hegglin anomaly (MHA) is a rare autosomal dominant disease characterized by neutrophils with abnormal cytoplasmic inclusions, large platelets, and variable thrombocytopenia. It has been suggested that mutations in MYH9 result in this disease.
Category
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Immune system disorders involving white cell lineages
   4B0Y  Other specified immune system disorders involving white cell lineages
    H02051  May-Hegglin anomaly
Pathway
hsa04270  Vascular smooth muscle contraction
hsa04810  Regulation of actin cytoskeleton
hsa04530  Tight junction
Gene
MYH9 [HSA:4627] [KO:K10352]
Other DBs
ICD-11: 4B0Y
OMIM: 155100
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:28722981
  Authors
Untanu RV, Vajpayee N
  Title
May Hegglin Anomaly
  Journal
StatPearls (2020)
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