Epstein syndrome

Also known as: Macrothrombocytopenia with nephritis and deafness

MYH9-related disorder with macrothrombocytopenia, nephritis and hearing loss.

Medical specialty: Nephrology
Subspecialty: Nephrology / Hereditary kidney disease
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: MYH9

Etiology & mechanism

Non-muscle myosin heavy chain IIA defect.

Gene(s) involved (1)

MYH9

Symptoms & signs (6)

bleedingcataracthearing losshematuriamacrothrombocytopeniaproteinuria

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.