Nephrology · Nephrology / Hereditary kidney disease
Renal coloboma syndrome
also: Papillorenal syndrome
Optic nerve coloboma with renal hypodysplasia.
- Specialty
- Nephrology
- Subspecialty
- Nephrology / Hereditary kidney disease
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- PAX2
- Alternative names & eponyms
- Papillorenal syndrome
Etiology & mechanism
PAX2 haploinsufficiency.
Gene(s) involved (1)
Symptoms & signs (5)
In plain terms, someone with Renal coloboma 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
hypertension, proteinuria
2 shared
HELLP syndrome
hypertension, proteinuria
2 shared
Mirror syndrome
hypertension, proteinuria
2 shared
Nephritic syndrome
hypertension, proteinuria
1 shared
Action myoclonus–renal failure syndrome
proteinuria
1 shared
Ask–Upmark kidney syndrome
hypertension
1 shared
Atypical hemolytic uremic syndrome
hypertension
1 shared
Barakat syndrome
vesicoureteral reflux
1 shared
Branchio-oto-renal syndrome
vesicoureteral reflux
1 shared
Conn syndrome
hypertension
Shares genes with
None.
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