Bardet-Biedl Syndrome

Common Name(s)

Bardet-Biedl Syndrome

Bardet-Biedl syndrome is an inherited condition that affects many parts of the body. People with this condition have progressive visual impairment due to cone-rod dystrophy, extra fingers or toes (polydactyly), truncal obesity, decreased function of the male gonads (hypogonadism), kidney abnormalities, and learning difficulties. At least 14 genes are known to be associated with Bardet-Biedl syndrome. This condition is usually inherited in an autosomal recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bardet-Biedl Syndrome" for support, advocacy or research.

Bardet Biedl Syndrome Family Association

Our Mission: Improve the lives of families affected by BBS through information, support and by advancing research and therapy Our Vision: Effective support, therapy, and treatment for all people affected by Bardet Biedl Syndrome

http://www.bardetbiedl.org/

Last Updated: 14 Mar 2013

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Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

https://www.fightblindness.org

Last Updated: 3 Nov 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bardet-Biedl Syndrome" for support, advocacy or research.

Bardet Biedl Syndrome Family Association

Our Mission: Improve the lives of families affected by BBS through information, support and by advancing research and therapy Our Vision: Effective support, therapy, and treatment for all people affected by Bardet Biedl Syndrome

http://www.bardetbiedl.org/

Last Updated: 14 Mar 2013

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Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

https://www.fightblindness.org

Last Updated: 3 Nov 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Bardet-Biedl Syndrome" returned 92 free, full-text research articles on human participants. First 3 results:

[A case report of rare bardet-biedl syndrome].
 

Author(s): Sheng-Quan Cheng, Yu-Hong Cao, Jin-Song Zhang, Huan Qiang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2013 Nov;15(11):975-6.

 

Last Updated: 15 Nov 2013

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Bardet-Biedl syndrome a rare cause of cardiomyopathy.
 

Author(s): Dinesh Kumar Yadav, Mukesh Kumar Beniwal, Aditi Jain

Journal: Indian Pediatr. 2013 Jun;50(6):599-601.

 

Bardet Biedl syndrome (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, polydactyly, obesity, learning disabilities, hypogonadism and renal anomalies. Cardiomyopathy in association with BBS has previously being reported only twice in literature. ...

Last Updated: 14 Aug 2013

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Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization.
 

Author(s): Victor Hernandez-Hernandez, Priyanka Pravincumar, Anna Diaz-Font, Helen May-Simera, Dagan Jenkins, Martin Knight, Philip L Beales

Journal: Hum. Mol. Genet.. 2013 Oct;22(19):3858-68.

 

Primary cilia are cellular appendages important for signal transduction and sensing the environment. Bardet-Biedl syndrome proteins form a complex that is important for several cytoskeleton-related processes such as ciliogenesis, cell migration and division. However, the mechanisms ...

Last Updated: 9 Sep 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Bardet-Biedl Syndrome" returned 6 free, full-text review articles on human participants. First 3 results:

Molecular basis of the obesity associated with Bardet-Biedl syndrome.
 

Author(s): Deng-Fu Guo, Kamal Rahmouni

Journal: Trends Endocrinol. Metab.. 2011 Jul;22(7):286-93.

 

Bardet-Biedl Syndrome (BBS) is a rare human hereditary disorder associated with several features including obesity, retinopathy, renal defects, polydactyly, learning disabilities and hypogenitalism. This article discusses the abnormalities accounting for energy imbalance leading to ...

Last Updated: 5 Jul 2011

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Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review.
 

Author(s): Luis Jesuino de Oliveira Andrade, Rafael Andrade, Caroline Santos Fran├ža, Alcina Vinhaes Bittencourt

Journal: Arq Bras Oftalmol. ;72(5):694-6.

 

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, ...

Last Updated: 22 Dec 2009

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Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.
 

Author(s): Norann A Zaghloul, Nicholas Katsanis

Journal: J. Clin. Invest.. 2009 Mar;119(3):428-37.

 

Bardet-Biedl syndrome (BBS) is a multisystemic disorder typified by developmental and progressive degenerative defects. A combination of genetic, in vitro, and in vivo studies have highlighted ciliary dysfunction as a primary cause of BBS pathology, which has in turn contributed to ...

Last Updated: 2 Mar 2009

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Molecular Investigations Into Ciliopathies
 

Status: Recruiting

Condition Summary: Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

 

Last Updated: 14 Mar 2014

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UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
 

Status: Recruiting

Condition Summary: Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

 

Last Updated: 12 Jan 2014

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