KEGG   DISEASE: Epstein syndromeHelp
Entry
H00578                      Disease                                

Name
Epstein syndrome
  Supergrp
MYH9-related disease [DS:H00233]
Description
Epstein syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. It is linked to mutations in MYH9, the nonmuscle myosin heavy chain. It has been suggested that renoprotective treatment by renin-angiotensin system blockade is effective in reducing proteinuria in patients with MYH9 nephropathy.
Category
Cardiovascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00578  Epstein syndrome
Human diseases in ICD-10 classification [BR:br08403]
 3. Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50-D89)
  D65-D69  Coagulation defects, purpura and other haemorrhagic conditions
   D69  Purpura and other haemorrhagic conditions
    H00578  Epstein syndrome
BRITE hierarchy
Pathway
hsa04530  Tight junction
hsa04810  Regulation of actin cytoskeleton
Gene
MYH9 [HSA:4627] [KO:K10352]
Other DBs
ICD-10: D69.4
MeSH: C535507
OMIM: 153650
Reference
PMID:18094725 (gene, description)
  Authors
Gubler MC
  Title
Inherited diseases of the glomerular basement membrane.
  Journal
Nat Clin Pract Nephrol 4:24-37 (2008)
DOI:10.1038/ncpneph0671
Reference
PMID:21071975 (gene, description)
  Authors
Kashtan CE, Segal Y
  Title
Genetic disorders of glomerular basement membranes.
  Journal
Nephron Clin Pract 118:c9-c18 (2011)
DOI:10.1159/000320876
Reference
PMID:21210153 (gene, description)
  Authors
Han KH, Lee H, Kang HG, Moon KC, Lee JH, Park YS, Ha IS, Ahn HS, Choi Y, Cheong HI
  Title
Renal manifestations of patients with MYH9-related disorders.
  Journal
Pediatr Nephrol 26:549-55 (2011)
DOI:10.1007/s00467-010-1735-3
Reference
PMID:18503011 (drug)
  Authors
Pecci A, Granata A, Fiore CE, Balduini CL
  Title
Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome).
  Journal
Nephrol Dial Transplant 23:2690-2 (2008)
DOI:10.1093/ndt/gfn277

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