Bardet-biedl Syndrome

Description

Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

Clinical Features

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

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Cryptorchidism
  • Hypertension
  • Skeletal muscle atrophy
  • Downslanted palpebral fissures
  • Short neck
  • Obesity

And another 15 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available BARDET-BIEDL SYNDROME have a estimated birth prevalence of 0.5 per 100k worldwide.
No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Bardet-biedl Syndrome extracted from public data.

Bardet-biedl Syndrome Experts map



Current Researchs and researchers

  • PARIS — Pr Philippe BASTIN

    Investigator of research project

    • Institution/s:
      — Institut Pasteur
    • Research area/topic::

      Molecular bases for the role of IFT172 in ciliogenesis and in ciliopathy


  • STRASBOURG — Pr Hélène DOLLFUS

    Coordinator of expert centre - Clinical expert - Clinical geneticist - Investigator of research project - Manager of registry - Coordinator of expert centre network

    • Institution/s:
      — CHU de Strasbourg - Hôpital Civil
      — CHU de Strasbourg - Hôpital de Hautepierre
      — Faculté de médecine de Strasbourg - Louis Pasteur
    • Research area/topic::

      Bardet-Biedl syndrome: new genes identification and biological characterization of a new gene BBS10


  • TÜBINGEN — Pr Bernd WISSINGER

    Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of research network - Director of laboratory

    • Institution/s:
      — Forschungsinstitut für Augenheilkunde, Department für Augenheilkunde Tübingen
    • Research area/topic::

      RETNET: European Retinal Research Training Network


  • NAPOLI — Pr Brunella FRANCO

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — TIGEM - Telethon Institute of Genetics and Medicine
    • Research area/topic::

      EUCILIA: thorough analysis of animal models with mutant BBS, OFD1, or NPHP protein (WP1)


  • SANTA MARIA IMBARO — Dr Alberto LUINI

    Investigator of research project

    • Institution/s:
      — Consorzio Mario Negri Sud
    • Research area/topic::

      EUCILIA: study of the ciliary protein interaction network to establish a hierarchy of temporal and spatial interactions of BBS, OFD1, and NPHP proteins (WP3)


  • STOCKHOLM — Pr Magnus NORDENSKJOLD

    Coordinator of expert centre - Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Karolinska University Hospital, Karolinska Universitetsjukhuset - Klinisk Genetik
      — Karolinska Institutet - Solna
    • Research area/topic::

      Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods


  • BIRMINGHAM — Pr Timothy G BARRETT

    Coordinator of expert centre - Clinical expert - Investigator of research project - Manager of registry - Coordinator of patient registry network

    • Institution/s:
      — College of Medical and Dental Sciences, University of Birmingham
      — Birmingham Children's Hospital NHS Foundation Trust
      — Birmingham Children's Hospital NHS Foundation Trust
      — Birmingham Children's Hospital NHS Foundation Trust
      — University Hospitals Birmingham, New Queen Elizabeth Hospital Birmingham
    • Research area/topic::

      EURO-WABB: EURO-Rare Diabetes Project (coordination)


  • LONDON — Pr Philip L BEALES

    Coordinator of expert centre - Clinical expert - Investigator of research project - Manager of registry

    • Institution/s:
      — Great Ormond Street Hospital for Children NHS Trust, UCL Institute of Child Health, University College London
      — 7th floor, Borough Wing, Guy's Hospital
    • Research area/topic::

      The relationship of BBS (Bardet-Biedl Syndrome) proteins to the Wnt pathways


  • BERKELEY — Seongjin SEO

    Investigator of research project

    • Institution/s:
      — University Of California Berkeley
    • Research area/topic::

      Molecular pathophysiology of retinal degeneration in bardet-biedl syndrome


  • CLEVELAND — Yoshikazu IMANISHI

    Investigator of research project

    • Institution/s:
      — Case Western Reserve University
    • Research area/topic::

      Illuminating the process of rod outer segment morphogenesis



Mendelian

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Bardet-biedl Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®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
3 %
Genes
73 %
Congenital Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, TRIM32, CFL2, CNTN1, MEGF10, DNM2, KLHL40, KBTBD13, MTM1, MYBPC3, MYH2, MYH7 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
5 %
Limb Girdle Muscular Dystrophy Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, TRIM32, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5, DES, DYSF, FKTN , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
5 %
Muscular Dystrophy Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
5 %
Neuromuscular Disorders Panel.

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

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
5 %
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
81 %
Genes
96 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
5 %
Ciliopathies.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32 , (...)

View the complete list with 73 more genes
Specificity
18 %
Genes
73 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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