Nephrology · Nephrology / Hereditary kidney disease
Senior–Løken syndrome
also: Renal–retinal syndrome
Nephronophthisis with retinal degeneration.
- Specialty
- Nephrology
- Subspecialty
- Nephrology / Hereditary kidney disease
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- CEP290, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19
- Alternative names & eponyms
- Renal–retinal syndrome
Etiology & mechanism
Ciliary protein defects.
Gene(s) involved (8)
Symptoms & signs (7)
In plain terms, someone with Senior–Løken 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.
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Shares symptoms with
3 shared
Fanconi syndrome
growth failure, polydipsia, polyuria
2 shared
Bartter syndrome
polydipsia, polyuria
2 shared
Conn syndrome
polydipsia, polyuria
2 shared
Primary aldosteronism
polydipsia, polyuria
1 shared
Abetalipoproteinemia
retinitis pigmentosa
1 shared
Alport syndrome
progressive kidney failure
1 shared
Atypical hemolytic uremic syndrome
anemia
1 shared
Bardet–Biedl syndrome
retinitis pigmentosa
1 shared
Cockayne syndrome
growth failure
1 shared
Cornelia de Lange syndrome
growth failure
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