1. Mendelian
  2. Rare Diseases
  3. SENIOR-LOKEN SYNDROME 9; SLSN9

Senior-loken Syndrome 9; Slsn9

Table of contents:

Description

Senior-Loken syndrome-9 is an autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. Additional more variable features can include liver defects, skeletal anomalies, and obesity (summary by Bizet et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see {266900}.

Genes related to Senior-loken Syndrome 9; Slsn9

  • TRAF3IP1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Senior-loken Syndrome 9; Slsn9

  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Abnormality of the skeletal system
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism
  • Polydactyly
  • Pallor
  • Retinopathy

And another 10 symptoms. If you need more information about this disease we can help you.

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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.

Senior-loken Syndrome 9; Slsn9 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Nephronophthisis and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

SDCCAG8, CEP41, NEK8, ZNF423, TRAF3IP1, INVS, CEP83, DCDC2, WDR19, NPHP4, AHI1, TMEM216, TTC21B, OFD1, ANKS6, TMEM138, XPNPEP3, TMEM67, IQCB1, CEP290 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Nephronophthisis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SDCCAG8, CEP41, NEK8, ZNF423, TRAF3IP1, INVS, CEP83, DCDC2, WDR19, NPHP4, AHI1, TMEM216, TTC21B, OFD1, ANKS6, TMEM138, XPNPEP3, TMEM67, IQCB1, CEP290 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Nephronophthisis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SDCCAG8, CEP41, NEK8, ZNF423, TRAF3IP1, INVS, CEP83, DCDC2, WDR19, NPHP4, AHI1, TMEM216, TTC21B, OFD1, ANKS6, TMEM138, XPNPEP3, TMEM67, IQCB1, CEP290 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Senior Loken Syndrome Panel.

By CeGaT GmbH (Germany).

SDCCAG8, IFT81, ZNF423, TRAF3IP1, INVS, WDR19, NPHP4, IQCB1, CEP290, CEP164, NPHP1, NPHP3
Specificity
9 %
Genes
100 %
Senior Loken Syndrome Panel.

By CeGaT GmbH (Germany).

SDCCAG8, IFT81, ZNF423, TRAF3IP1, INVS, WDR19, NPHP4, IQCB1, CEP290, CEP164, NPHP1, NPHP3
Specificity
9 %
Genes
100 %
Senior-Loken Syndrome Panel.

By CeGaT GmbH (Germany).

SDCCAG8, IFT81, ZNF423, TRAF3IP1, INVS, WDR19, NPHP4, IQCB1, CEP290, CEP164, NPHP1, NPHP3
Specificity
9 %
Genes
100 %
Senior-Loken Syndrome.

By Asper Biogene Asper Biogene LLC (Estonia).

SDCCAG8, TRAF3IP1, INVS, WDR19, NPHP4, IQCB1, CEP290, NPHP1, NPHP3
Specificity
12 %
Genes
100 %
TRAF3IP1.

By Fulgent Genetics Fulgent Genetics (United States).

TRAF3IP1
Specificity
100 %
Genes
100 %

You can get up to 5 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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