Details of Disease

General Information of Disease (ID: DISRY70P)

Disease Name Senior-Loken syndrome 4
Synonyms SLSN4; SENIOR-Loken syndrome 4; Senior-Loken syndrome 4; NPHP4 Senior-Loken syndrome; Senior-Loken syndrome caused by mutation in NPHP4; Senior-Loken syndrome type 4
Definition Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene.
Disease Hierarchy
DISGBSGP: Senior-Loken syndrome
DISRY70P: Senior-Loken syndrome 4
Disease Identifiers
MONDO ID
MONDO_0011756
UMLS CUI
C1846979
OMIM ID
606996
MedGen ID
337697

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TMEM218 OTM46L89 Strong Biomarker [1]
NPHP4 OTBNOA7U Definitive Autosomal recessive [2]
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References

1 Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-L?ken syndrome?. Vet Pathol. 2015 May;52(3):580-95. doi: 10.1177/0300985814547392. Epub 2014 Aug 26.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.