Nephrology · Nephrology / Hereditary kidney disease
Branchio-oto-renal syndrome
also: BOR syndrome; Melnick–Fraser syndrome
Branchial arch anomalies, hearing loss and renal malformations.
- Specialty
- Nephrology
- Subspecialty
- Nephrology / Hereditary kidney disease
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- EYA1, SIX1, SIX5
- Alternative names & eponyms
- BOR syndrome; Melnick–Fraser syndrome
Etiology & mechanism
EYA1 and SIX gene haploinsufficiency.
Gene(s) involved (3)
Symptoms & signs (6)
In plain terms, someone with Branchio-oto-renal 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
Barakat syndrome
renal dysplasia, vesicoureteral reflux
2 shared
Kallmann syndrome
hearing loss, renal agenesis
1 shared
Alport syndrome with diffuse leiomyomatosis
hearing loss
1 shared
Alström syndrome
hearing loss
1 shared
Chanarin–Dorfman syndrome
hearing loss
1 shared
CHARGE syndrome
hearing loss
1 shared
Cockayne syndrome
hearing loss
1 shared
Cogan syndrome
hearing loss
1 shared
Cogan syndrome with neurological involvement
hearing loss
1 shared
Cornelia de Lange syndrome
hearing loss
Shares genes with
None.
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