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ENMyh-9 Related Disease
Alias:
Myh9-Related Disorder
Myh9-Related Disease
Myh9-Related Syndromic Thrombocytopenia
Myh9-Related Syndrome
Myh9-Rd
Autosomal Dominant Myh9 Spectrum Disorders
Myh9-Related Macrothrombocytopenias
Sebastian Syndrome
Myh9rd
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Myh-9 Related Disease, also known as myh9-related disorder, is related to macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss and deafness, autosomal dominant 17. An important gene associated with Myh-9 Related Disease is MYH9 (Myosin Heavy Chain 9), and among its related pathways/superpathways are PAK Pathway and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include kidney and liver, and related phenotypes are congenital thrombocytopenia and sensorineural hearing impairment
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