MYH9-related disorder
ORPHA: 182050
Overview
blood platelet disease that has material basis in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with MYH9-related disorder, sourced from HPO and Orphanet clinical annotations.
Congenital thrombocytopeniaRenal insufficiencyProteinuriaNephropathyNephritisMenorrhagiaSensorineural hearing impairmentBruising susceptibilityGiant plateletsElevated circulating hepatic transaminase concentrationProlonged bleeding timeSpontaneous, recurrent epistaxisPresenile cataractsNeutrophil inclusion bodiesIncreased mean platelet volumeMyocardial infarction
Classification & Codes
Orphanet Code
ORPHA:182050MYH9-related disorder
| Orphanet | ORPHA:182050 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO