Senior-Loken syndrome

Summary
Synonym
  • Loken Senior syndrome
  • renal-retinal syndrome
Definition
A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.
Super Class
autosomal recessive disease syndrome
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
26146 TRAF3IP1 TRAF3 interacting protein 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
216274 Cep290 centrosomal protein 290

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024