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: 272 relevant articles (1 outcomes, 12 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Inborn Genetic Diseases (Disease, Hereditary)
2.	Alstrom Syndrome
3.	Obesity
4.	Ciliopathies
5.	Retinitis Pigmentosa (Pigmentary Retinopathy)

Experts

1.	Sheffield, Val C: 19 articles (01/2022 - 06/2004)
2.	Katsanis, Nicholas: 16 articles (01/2021 - 03/2003)
3.	Leroux, Michel R: 15 articles (12/2016 - 05/2004)
4.	Beales, Philip L: 14 articles (10/2019 - 05/2004)
5.	Rahmouni, Kamal: 10 articles (01/2022 - 04/2008)
6.	Stone, Edwin M: 10 articles (01/2014 - 06/2004)
7.	Badano, Jose L: 9 articles (01/2022 - 05/2004)
8.	Seo, Seongjin: 9 articles (11/2020 - 04/2008)
9.	Leitch, Carmen C: 8 articles (01/2021 - 03/2003)
10.	Guo, Deng-Fu: 6 articles (01/2021 - 04/2009)

Drugs and Biologics

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

1.	setmelanotideIBA 01/01/2023 - "Interview-Based Patient- and Caregiver-Reported Experiences of Hunger and Improved Quality of Life with Setmelanotide Treatment in Bardet-Biedl Syndrome." 01/01/2023 - "This study highlights the need to address the impaired health-related quality of life in Bardet-Biedl syndrome, and supports utility of setmelanotide for reducing this burden. " 01/01/2023 - "This analysis evaluated changes in health-related quality of life in adults and children with Bardet-Biedl syndrome in a Phase 3 trial following 1 year of setmelanotide treatment (ClinicalTrials.gov identifier: NCT03746522). " 01/01/2023 - "Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results." 12/01/2022 - "Setmelanotide for controlling weight and hunger in Bardet-Biedl syndrome."
2.	Proteins (Proteins, Gene)FDA Link 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. " 12/01/2023 - "The BBSome is a protein complex composed of eight Bardet-Biedl syndrome (BBS) proteins including BBS1. " 01/01/2023 - "We assessed the role of the BBSome, a protein complex composed of eight Bardet-Biedl syndrome (BBS) proteins, in the control of mitochondria dynamic and function. " 10/01/2022 - "Bardet-Biedl syndrome (BBS) is a rare genetic condition, characterized by ciliary protein dysfunction, leading to multi-organ damage. " 01/01/2022 - "The BBSome is an octameric protein complex involved in Bardet-Biedl syndrome (BBS), a human pleiotropic, autosomal recessive condition. "
3.	Type 4 Melanocortin Receptor (Melanocortin-4 Receptor)IBA 01/01/2022 - "The aim of this study was to review bariatric procedure outcomes among patients with Prader-Willi syndrome (PWS), melanocortin 4 receptor (MC4R) mutations, Bardet-Biedl syndrome, and hypothalamic obesity. " 01/01/2023 - "Bardet-Biedl syndrome (BBS) is a rare genetic disease associated with hyperphagia, a pathologic insatiable hunger, due to impaired signaling in the melanocortin-4 receptor (MC4R) pathway. " 01/01/2022 - "Systematic published literature review used the following search terms: "Prader-Willi syndrome," "Bardet-Biedl syndrome," "hyperphagia," "bariatric surgery," "MC4R"/"melanocortin 4 receptor", "hypothalamic obesity," and "bariatric procedure." Information collected included demographics, genetics, anthropometry, procedure type, outcomes, and complications, with inclusion of case series and clinical reports given the rarity of the disorders. " 12/01/2022 - "Impaired cilial signalling in the melanocortin-4 receptor (MC4R) pathway might contribute to obesity in patients with Bardet-Biedl syndrome and Alström syndrome, rare genetic diseases associated with hyperphagia and early-onset severe obesity. " 12/01/2022 - "Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period."
4.	DNA (Deoxyribonucleic Acid)IBA 04/01/2017 - "Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing." 01/01/2011 - "Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals." 05/25/2016 - "A biorepository has been established and comprises ~3 200 patient DNA samples archived with many forms of RDD (including retinitis pigmentosa, macular dystrophies, Stargardt disease, Leber congenital amaurosis, Usher syndrome and Bardet Biedl syndrome). " 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.	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. " 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. " 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. "
6.	RNA (Ribonucleic Acid)IBA 07/01/2007 - "Elevated ocular transcripts were confirmed by Northern blotting of RNA from Bbs4(-/-) and three additional mouse models of Bardet-Biedl Syndrome (BBS). " 01/01/2016 - "Here we have used Illumina short-read/high-throughput RNA-Seq to identify 55 genes that exhibit neurally-regulated AIR in the pineal gland, and then used two other complementary experimental platforms to further study and characterize the Ttc8 gene, which is involved in Bardet-Biedl syndrome and non-syndromic retinitis pigmentosa. "
7.	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. "
8.	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. "
9.	CaveolinsIBA 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. "
10.	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. "

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 11/01/2016 - "Renal transplantation in Bardet-Biedl Syndrome." 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." 06/01/1995 - "Obesity and genitourinary anomalies in Bardet-Biedl syndrome after renal transplantation."
3.	Gastrectomy 06/01/2023 - "This case report presents the preoperative evaluation and perioperative outcomes of a 7-year-old pediatric patient with Bardet-Biedl syndrome (BBS) who underwent sleeve gastrectomy. " 06/01/2023 - "Laparoscopic Sleeve Gastrectomy in a Morbidly Obese Pediatric Patient With Bardet-Biedl Syndrome." 04/01/2017 - "Beneficial Outcomes of Sleeve Gastrectomy in a Morbidly Obese Patient With Bardet-Biedl Syndrome." 03/01/2015 - "Erratum to: Adjustable gastric banding and sleeve gastrectomy in Bardet-Biedl syndrome." 10/01/2014 - "Adjustable gastric banding and sleeve gastrectomy in Bardet-Biedl syndrome."
4.	Renal Replacement Therapy (Therapies, Renal Replacement) 07/01/2009 - "Bardet-Biedl syndrome (BBS) is a rare cause of renal failure requiring renal replacement therapy. " 08/15/2011 - "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." 07/01/2007 - "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) 08/15/2011 - "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." 08/15/2011 - "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. "