| Entry |
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| Name |
MYH9-related kidney diseases, including:
Epstein syndrome;
Fechtner syndrome
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| 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.
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| Category |
Kidney disease
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| Pathway |
| Tight junction | | Regulation of actin cytoskeleton |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Gubler MC |
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| Title |
Inherited diseases of the glomerular basement membrane. |
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| Journal |
Nat Clin Pract Nephrol 4:24-37 (2008) |
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| Reference |
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| Authors |
Kashtan CE, Segal Y |
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| Title |
Genetic disorders of glomerular basement membranes. |
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| Journal |
Nephron Clin Pract 118:c9-c18 (2011) |
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| Reference |
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| Authors |
Han KH, Lee H, Kang HG, Moon KC, Lee JH, Park YS, Ha IS, Ahn HS, Choi Y, Cheong HI |
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| Title |
Renal manifestations of patients with MYH9-related disorders. |
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| Journal |
Pediatr Nephrol 26:549-55 (2011) |
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