Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl)

An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)

Also Known As:

Networked: 185 relevant articles (0 outcomes, 7 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Prader-Willi Syndrome (Syndrome, Prader-Willi)
2.	Neoplasms (Cancer)
3.	Osteoporosis
4.	Liver Diseases (Liver Disease)
5.	Turner Syndrome (Turner's Syndrome)

Experts

1.	Sheffield, Val C: 16 articles (08/2015 - 06/2004)
2.	Katsanis, Nicholas: 11 articles (01/2012 - 05/2004)
3.	Leroux, Michel R: 10 articles (12/2014 - 05/2004)
4.	Beales, Philip L: 10 articles (11/2014 - 05/2004)
5.	Stone, Edwin M: 10 articles (01/2014 - 06/2004)
6.	Seo, Seongjin: 7 articles (08/2015 - 04/2008)
7.	Badano, Jose L: 6 articles (06/2014 - 05/2004)
8.	Stoetzel, Corinne: 5 articles (08/2015 - 01/2007)
9.	Zhang, Qihong: 5 articles (06/2015 - 09/2007)
10.	Leitch, Carmen C: 5 articles (06/2014 - 05/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Bardet-Biedl Syndrome:

1.	Proteins (Proteins, Gene)IBA 10/15/2005 - "Clues may come from studies of related syndromes, including Bardet-Biedl syndrome and nephronophthisis, for which all of the encoded proteins localize to primary cilia. " 10/02/2015 - "Furthermore, we show that only IFT-B components, including IFT20 and IFT57, but not IFT-A and Bardet-Biedl syndrome (BBS) proteins, amass with IFT88 in these distended tips in Cby-/- ciliated cells. " 08/11/2015 - "Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome." 06/01/2015 - "Here, we show that Bardet Biedl Syndrome (BBS) proteins are necessary for IR localization to the cell surface. " 12/01/2014 - "The BBSome is a coat-like ciliary trafficking complex composed of proteins mutated in Bardet-Biedl syndrome (BBS). "
2.	Meckel syndrome type 1IBA 01/01/2013 - "Cilia are comprised of distinct structural and functional subregions including the basal body, transition zone (TZ) and inversin (Inv) compartments, and defects in this organelle are associated with an expanding spectrum of inherited disorders including Bardet-Biedl syndrome (BBS), Meckel-Gruber Syndrome (MKS), Joubert Syndrome (JS) and Nephronophthisis (NPHP). " 10/15/2012 - "Mutations in components of these complexes are at the heart of human ciliopathies such as Nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), Bardet-Biedl syndrome (BBS) and Joubert syndrome (JBTS). " 04/15/2011 - "CEP290 has also been implicated in several cilia-related syndromic disorders including Meckel-Gruber syndrome, Joubert syndrome, Senor-Loken syndrome and Bardet-Biedl syndrome (BBS). " 04/01/2011 - "The ciliopathies include several partially overlapping syndromes such as Joubert syndrome, Bardet-Biedl syndrome and Meckel-Gruber syndrome, all of which have pronounced neurodevelopmental features. " 12/01/2008 - "CEP290 mutations are also associated with Meckel-Gruber syndrome and Bardet-Biedl syndrome (BBS). "
3.	Insulin (Novolin)FDA Link 02/01/2011 - "Despite equivalent levels of obesity, patients with Alström syndrome are more likely than those with Bardet-Biedl syndrome to develop childhood type 2 diabetes mellitus (T2DM), suggesting that ALMS1 might have a specific role in β-cell function and/or peripheral insulin signaling pathways. " 05/01/2007 - "Currently, the zebrafish model is used for the study of human genetic disease, caveolin-associated muscle disease, homeostasis, kidney development and disease, cancer, cardiovascular disorders, oxidative stress, caloric restriction, insulin-like pathways, angiogenesis, neurological diseases, liver disease, hemophilia, bacterial pathogenesis, apoptosis, osteoporosis, immunological studies, germ cell study, Bardet-Biedl syndrome gene (BBS11), Alzheimer's disease, virology studies and vaccine development. " 09/01/1998 - "[A case of familial Bardet-Biedl syndrome (obesity, slight mental retardation, polydactyly, retinitis pigmentosum and renal failure) with insulin-resistant diabetes mellitus]." 09/01/1998 - "A case of familial Bardet-Biedl syndrome (BBS) in a 64-year-old woman is presented; it is characterized by abdominal obesity (BMI: 38.28; WHR: 0.98), slight mental retardation, polydactyly, pigmentary retinopathy and moderate renal failure, with insulin-resistant diabetes mellitus and severe inflammation of the left limb with necrosis of the last toe (the sixth) of the left foot. "
4.	DNA (Deoxyribonucleic Acid)IBA 01/01/2011 - "Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals." 01/01/1995 - "In this study, we we utilized a DNA pooling approach using DNA samples from a highly inbred Bedouin kindred to identify a new Bardet-Biedl syndrome locus on chromosome 15. "
5.	HSP27 Heat-Shock ProteinsIBA 04/01/2013 - "Furthermore, several heat shock proteins (Hsp27, Hsp60, Hsc70, and Hsp90) were identified in blastocoel fluid together with zona pellucida proteins (ZP2-4), Vitamin D-binding protein, and Retinol-binding protein 4. Proteins that regulate ciliary assembly and function were also identified, including Bardet-Biedl syndrome protein 7. This study has identified numerous proteins that cells from the ICM of the human blastocyst are exposed to via the blastocoel fluid. "
6.	A-Form DNA (A-DNA)IBA 01/01/1995 - "In this study, we we utilized a DNA pooling approach using DNA samples from a highly inbred Bedouin kindred to identify a new Bardet-Biedl syndrome locus on chromosome 15. "
7.	rab GTP-Binding ProteinsIBA 01/01/2014 - "Recent studies have identified several key regulators of these processes, including Rab GTPases such as Rab8 and Rab11, the Rab8 guanine nucleotide exchange factor Rabin8, and the transport protein particle (TRAPP) components TRAPPC3, -C9, and -C10, which physically interact with each other and function together with Bardet Biedl syndrome (BBS) proteins in ciliary membrane biogenesis. "
8.	Guanine Nucleotide Exchange Factors (Guanine Nucleotide Exchange Factor)IBA 01/01/2014 - "Recent studies have identified several key regulators of these processes, including Rab GTPases such as Rab8 and Rab11, the Rab8 guanine nucleotide exchange factor Rabin8, and the transport protein particle (TRAPP) components TRAPPC3, -C9, and -C10, which physically interact with each other and function together with Bardet Biedl syndrome (BBS) proteins in ciliary membrane biogenesis. "
9.	Vitamin D-Binding ProteinIBA 04/01/2013 - "Furthermore, several heat shock proteins (Hsp27, Hsp60, Hsc70, and Hsp90) were identified in blastocoel fluid together with zona pellucida proteins (ZP2-4), Vitamin D-binding protein, and Retinol-binding protein 4. Proteins that regulate ciliary assembly and function were also identified, including Bardet-Biedl syndrome protein 7. This study has identified numerous proteins that cells from the ICM of the human blastocyst are exposed to via the blastocoel fluid. "
10.	Vitamin A (Retinol)FDA LinkGeneric 04/01/2013 - "Furthermore, several heat shock proteins (Hsp27, Hsp60, Hsc70, and Hsp90) were identified in blastocoel fluid together with zona pellucida proteins (ZP2-4), Vitamin D-binding protein, and Retinol-binding protein 4. Proteins that regulate ciliary assembly and function were also identified, including Bardet-Biedl syndrome protein 7. This study has identified numerous proteins that cells from the ICM of the human blastocyst are exposed to via the blastocoel fluid. "

Therapies and Procedures

1.	Caloric Restriction 05/01/2007 - "Currently, the zebrafish model is used for the study of human genetic disease, caveolin-associated muscle disease, homeostasis, kidney development and disease, cancer, cardiovascular disorders, oxidative stress, caloric restriction, insulin-like pathways, angiogenesis, neurological diseases, liver disease, hemophilia, bacterial pathogenesis, apoptosis, osteoporosis, immunological studies, germ cell study, Bardet-Biedl syndrome gene (BBS11), Alzheimer's disease, virology studies and vaccine development. "
2.	Kidney Transplantation 07/01/2007 - "Renal transplantation in patients with Bardet-Biedl syndrome." 12/01/2005 - "Laurence-Moon-Bardet-Biedl syndrome represents a very rare indication for kidney transplantation. " 12/01/2005 - "Laurence-Moon-Bardet-Biedl syndrome for kidney transplantation at the age of 57 years." 10/01/2011 - "Renal transplantation in a patient with Bardet-Biedl syndrome, situs inversus totalis and bifid epiglottis: Anesthetic management." 06/01/1995 - "Obesity and genitourinary anomalies in Bardet-Biedl syndrome after renal transplantation."
3.	Transplants (Transplant) 01/01/2009 - "Bardet-Biedl syndrome, renal transplant and percutaneous nephrolithotomy: a case report and review of the literature." 07/01/2009 - "Renal transplant in a child with Bardet-Biedl syndrome: A rare cause of end-stage renal disease." 03/01/2011 - "He was a known case of Laurence-Moon-Bardet-Biedl syndrome and had received a renal transplant 2 years ago and was receiving tacrolimus since then. " 01/01/2015 - "We present a 16-year-old boy with Bardet-Biedl syndrome, with comorbidities including chronic renal impairment requiring renal transplant, isolated growth hormone (GH) deficiency and obesity, who presented on routine follow-up with new onset T2DM and in HHS. "
4.	Renal Replacement Therapy (Therapies, Renal Replacement) 01/01/2011 - "Close follow-up for renal involvement in patients with Bardet-Biedl syndrome and Alström syndrome from an early age is highly recommended to prevent end-stage renal disease and so renal replacement therapy can be started immediately." 07/01/2009 - "Bardet-Biedl syndrome (BBS) is a rare cause of renal failure requiring renal replacement therapy. " 07/01/2007 - "Renal transplantation is a safe and successful procedure and renal replacement therapy of choice in patients with Bardet-Biedl syndrome and end-stage renal failure, but special attention should be paid to body mass index and steroid-free immunosuppression if other suitable drugs, such as sirolimus and basiliximab are affordable."
5.	Continuous Ambulatory Peritoneal Dialysis (CAPD) 01/01/2011 - "He met the major and minor criteria for the diagnosis of Bardet-Biedl syndrome and underwent continuous ambulatory peritoneal dialysis. " 10/01/2008 - "Continuous ambulatory peritoneal dialysis for a patient with Bardet-Biedl syndrome." 01/01/2011 - "Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome, but the onset of end-stage renal disease at an early age and continuous ambulatory peritoneal dialysis, however, are not commonly mentioned in the literature. "