Senior-loken Syndrome 5; Slsn5

Description

Senior-Loken syndrome is an autosomal recessive disorder with the main features of nephronophthisis (NPHP; see {256100}) and Leber congenital amaurosis (LCA; see {204000}).

Clinical Features

Phenotypes and symptoms related to Senior-loken Syndrome 5; Slsn5

  • Rod-cone dystrophy
  • Stage 5 chronic kidney disease
  • Nephronophthisis
  • Congenital blindness

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Senior-loken Syndrome 5; Slsn5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
IQCB1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IQCB1
Specificity
100 %
Genes
100 %
IQCB1 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IQCB1
Specificity
100 %
Genes
100 %
IQCB1 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IQCB1
Specificity
100 %
Genes
100 %
IQCB1 Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IQCB1
Specificity
100 %
Genes
100 %
IQCB1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IQCB1
Specificity
100 %
Genes
100 %
Leber Congential Amaurosis Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, LCA5, AIPL1, GUCY2D, IMPDH1, KCNJ13, LRAT, OTX2
Specificity
6 %
Genes
100 %
Leber Congenital Amaurosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, CLUAP1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, IFT140, LCA5, AIPL1, DTHD1, GDF6, GUCY2D, IMPDH1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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