Nephrology · Nephrology / Hereditary kidney disease
Epstein syndrome
also: Macrothrombocytopenia with nephritis and deafness
MYH9-related disorder with macrothrombocytopenia, nephritis and hearing loss.
- Specialty
- Nephrology
- Subspecialty
- Nephrology / Hereditary kidney disease
- Sex & age distribution
- Male: affected; Female: affected; Children: yes
- Gene(s) involved
- MYH9
- Alternative names & eponyms
- Macrothrombocytopenia with nephritis and deafness
Etiology & mechanism
Non-muscle myosin heavy chain IIA defect.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Epstein syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Alport syndrome
hematuria, proteinuria
2 shared
Alport syndrome with diffuse leiomyomatosis
hearing loss, hematuria
2 shared
Marshall syndrome
cataract, hearing loss
2 shared
Nail–patella syndrome
hematuria, proteinuria
2 shared
Nephritic syndrome
hematuria, proteinuria
2 shared
Nutcracker syndrome
hematuria, proteinuria
2 shared
Pulmonary–renal syndrome
hematuria, proteinuria
1 shared
Action myoclonus–renal failure syndrome
proteinuria
1 shared
Alström syndrome
hearing loss
1 shared
Branchio-oto-renal syndrome
hearing loss
Shares genes with
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