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macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.
Uniprot Description An autosomal dominant disorder characterized by thrombocytopenia, giant platelets and Dohle body-like inclusions in peripheral blood leukocytes with variable ultrastructural appearance. Some affected individuals lack leukocyte inclusion bodies on classic staining of peripheral blood smears. Alport syndrome-like features of nephritis, hearing loss, and eye abnormalities are present in some patients.
Disease Ontology Description A 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.
Mondo Term and Equivalent IDs
MONDO:0015912:  macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
GARD:0000179: 
GARD:0000180: 
MESH:C537831: 
Orphanet:182050: 
Orphanet:850: 
SCTID:234484005: 
SCTID:712922002: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)