Bardet-biedl Syndrome 17; Bbs17

Description

BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Bardet-biedl Syndrome 17; Bbs17

  • Global developmental delay
  • Cognitive impairment
  • Brachydactyly
  • Renal insufficiency
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism
  • Polydactyly
  • Micropenis
  • Stage 5 chronic kidney disease

And another 16 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.


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Bardet-biedl Syndrome 17; Bbs17 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bardet-Biedl Syndrome Panel.

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

SDCCAG8, ARL6, TRIM32, IFT27, BBS7, TTC8, INPP5E, ADIPOR1, BBS10, BBS12, C8orf37, WDPCP, BBIP1, CCDC28B, TMEM67, CEP290, BBS9, KCNJ13, LZTFL1, MKKS , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Bardet-Biedl syndrome 17 (sequence analysis of LZTFL1 gene).

By CGC Genetics (Portugal).

LZTFL1
Specificity
100 %
Genes
100 %
Bardet-Biedl syndrome (NGS panel for 22 genes).

By CGC Genetics (Portugal).

SDCCAG8, ARL6, TRIM32, IFT27, BBS7, TTC8, BBS10, BBS12, WDPCP, BBIP1, CCDC28B, TMEM67, CEP290, BBS9, ALMS1, LZTFL1, MKKS, MKS1, BBS1, BBS2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Ciliopathies (NGS panel for 90 genes).

By CGC Genetics (Portugal).

SDCCAG8, SPAG1, CEP41, RSPH1, CFAP298, ARL6, NEK8, TMEM237, TRIM32, NME8, LRRC6, ZNF423, INVS, CEP83, DCDC2, WDR19, CCNO, IFT27, DNAI2, BBS7 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Bardet-Biedl Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SDCCAG8, ARL6, TRIM32, IFT27, BBS7, TTC8, IFT74, BBS10, BBS12, C8orf37, WDPCP, BBIP1, TMEM67, CEP290, BBS9, IFT172, LZTFL1, MKKS, MKS1, NPHP1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %
Ciliopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RPGR, SDCCAG8, SPAG1, CEP41, RSPH1, ZIC3, CFAP298, ARL6, NEK8, TMEM237, TRIM32, NME8, LRRC6, ZNF423, ACVR2B, INVS, CEP83, DCDC2, WDR19, CCNO , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Comprehensive Monogenic Obesity Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BDNF, SDCCAG8, SIM1, TUB, UCP3, KDM6A, ARL6, RAB23, TRIM32, PHF6, KSR2, IFT27, BBS7, TTC8, MRAP2, IFT74, VPS13B, CPE, CUL4B, BBS10 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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