# Senior-Loken syndrome

> autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease

**Wikidata**: [Q4354267](https://www.wikidata.org/wiki/Q4354267)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Senior–Løken_syndrome)  
**Source**: https://4ort.xyz/entity/senior-loken-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. UniProt
5. Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus
6. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
7. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution
8. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
9. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)