Details of Disease

General Information of Disease (ID: DISGBSGP)

Disease Name Senior-Loken syndrome
Synonyms Senior Loken syndrome; renal dysplasia retinal aplasia; nephronophthisis with retinal dystrophy; SLSN; Loken Senior syndrome; renal dysplasia-retinal aplasia syndrome; renal-retinal syndrome
Definition Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.
Disease Hierarchy
DISZ75RJ: Inherited renal tubular disease
DISCPWH9: Autosomal recessive disease
DIS10G4I: Ciliopathy
DISGBSGP: Senior-Loken syndrome
Disease Identifiers
MONDO ID
MONDO_0017842
MESH ID
C537580
UMLS CUI
C0403553
MedGen ID
96045
Orphanet ID
3156
SNOMED CT ID
236531005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 15 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WDR19 OTP5X5WA Supportive Autosomal recessive [1]
SCLT1 OT2ZSSP4 Limited Autosomal recessive [5]
INF2 OT8ZM13C Disputed Biomarker [6]
RPGRIP1L OT6Z069I Disputed Genetic Variation [7]
CEP164 OTLNRPAR Supportive Autosomal recessive [8]
CEP290 OTVN52VH Supportive Autosomal recessive [2]
INVS OT8KPESR Supportive Autosomal recessive [9]
IQCB1 OTYQ28V9 Supportive Autosomal recessive [2]
NPHP1 OTZHCFFQ Supportive Autosomal recessive [2]
NPHP3 OT8U8ELA Supportive Autosomal recessive [2]
NPHP4 OTBNOA7U Supportive Autosomal recessive [2]
SDCCAG8 OTV2ZGV9 Supportive Autosomal recessive [2]
TRAF3IP1 OTLCC64B Supportive Autosomal recessive [10]
DNAJC13 OTYAVVJ6 moderate Biomarker [11]
TMEM218 OTM46L89 Strong Biomarker [12]
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⏷ Show the Full List of 15 DOT(s)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CEP290 TT3XBOV Supportive Autosomal recessive [2]
ALDH3A2 TTB6UM0 Strong Biomarker [3]
CEP290 TT3XBOV Strong Biomarker [4]
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References

1 WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. Clin Genet. 2013 Aug;84(2):150-9. doi: 10.1111/cge.12196.
2 Senior-L?ken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis. Vision Res. 2012 Dec 15;75:88-97. doi: 10.1016/j.visres.2012.07.003. Epub 2012 Jul 20.
3 Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. Hum Mutat. 2008 Mar;29(3):418-26. doi: 10.1002/humu.20669.
4 Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration.J Clin Invest. 2013 Oct;123(10):4525-39. doi: 10.1172/JCI69448. Epub 2013 Sep 24.
5 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
6 Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy.Clin Transplant. 2014 Sep;28(9):995-1003. doi: 10.1111/ctr.12408. Epub 2014 Jul 18.
7 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.Nat Genet. 2007 Jul;39(7):882-8. doi: 10.1038/ng2069. Epub 2007 Jun 10.
8 Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell. 2012 Aug 3;150(3):533-48. doi: 10.1016/j.cell.2012.06.028.
9 Retinitis pigmentosa and renal failure in a patient with mutations in INVS. Nephrol Dial Transplant. 2006 Jul;21(7):1989-91. doi: 10.1093/ndt/gfl088. Epub 2006 Mar 7.
10 Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization. Nat Commun. 2015 Oct 21;6:8666. doi: 10.1038/ncomms9666.
11 Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-Lken syndrome type 3.Cytogenet Genome Res. 2002;97(3-4):163-6. doi: 10.1159/000066617.
12 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.