KEGG   DISEASE: H00578Help
Entry
H00578                      Disease                                

Name
MYH9-related kidney diseases, including:
Epstein syndrome;
Fechtner syndrome
Description
Epstein and Fechtner syndromes are rare autosomal dominant progressive nephropathies associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. Fechtner syndrome shows the additional features of cataracts and blue leukocyte inclusion bodies (Doehle-like bodies). Both disorders are linked to mutations in MYH9, the nonmuscle myosin heavy chain.
Category
Kidney disease
BRITE hierarchy
Pathway
Tight junction
Regulation of actin cytoskeleton
Gene
MYH9 [HSA:4627] [KO:K10352]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
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)
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)
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)

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