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Disease characteristics

Excerpted from the GeneReview: MYH9-Related Disorders
MYH9-related disorders (MYH9RD) are characterized by large platelets (i.e., >20% of platelets >4 μm in diameter) and thrombocytopenia (platelet count <150x109/L), both of which are present from birth. MYH9RD is variably associated with young-adult onset of progressive high-frequency sensorineural hearing loss, presenile cataract, and renal disease manifesting initially as glomerulonephritis. Before identification of the gene in which mutation is causative, MYH9, individuals with MYH9RD were diagnosed as having Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, or Sebastian syndrome based on the combination of different clinical findings at the time of diagnosis. However, the realization that they all have MYH9 mutations and that their clinical picture often worsens throughout life as a result of late onset of non-hematologic manifestations has led the four conditions to be regarded as one disorder, now known as MYH9RD.

Associated genes

  • Also known as: RP1-68O2.1, BDPLT6, DFNA17, EPSTS, FTNS, MHA, NMHC-II-A, NMMHC-IIA, NMMHCA, MYH9
    Summary: myosin, heavy chain 9, non-muscle

Clinical features

  • Proteinuria
  • Thrombocytopenia
  • Hypertension
  • Cataract
  • Epistaxis
  • Nephritis
  • High-frequency sensorineural hearing impairment
  • Giant platelets
  • Gastrointestinal hemorrhage
  • Microscopic hematuria
  • Stage 5 chronic kidney disease
  • Bilateral sensorineural hearing impairment
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