KEGG DISEASE: Epstein syndrome

KEGG

DISEASE: Epstein syndrome

Entry

H00578                      Disease

Name

Epstein syndrome

Supergrp

MYH9-related disease [DS:H00233]
Macrothrombocytopenia [DS:H01740]

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 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
    H00578  Epstein syndrome

Pathway

Regulation of actin cytoskeleton

Tight junction

Gene

MYH9 [HSA:4627] [KO:K10352]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

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

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

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

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

LinkDB

» Japanese version

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