Bardet-Biedl syndrome

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Information
Disease name
Bardet-Biedl syndrome
Disease ID
DOID:1935
Description
"A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases." [url:http\://en.wikipedia.org/wiki/Bardet-Biedl_syndrome, url:http\://en.wikipedia.org/wiki/Ciliopathy, url:http\://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
BBS1 11 66,510,635 66,533,598 6
ZDHHC24 11 66,535,626 66,546,048 6
OFD1 X 13,734,748 13,769,357 4
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT00213811 Completed Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults June 2003
NCT04966741 Completed Phase 3 Setmelanotide in Pediatric Patients With Rare Genetic Diseases of Obesity February 16, 2022 September 19, 2023
NCT05194124 Completed Phase 3 Phase 3 Crossover Trial of Two Formulations of Setmelanotide in Patients With Specific Gene Defects in the MC4R Pathway December 21, 2021 October 19, 2023
NCT05400278 Enrolling by invitation Characterizing the Genotype and Phenotype in Adults With Bardet-Biedl Syndrome February 1, 2022 December 31, 2026
NCT04874909 Recruiting N/A Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM) November 8, 2021 November 2024
NCT06239064 Recruiting Early Genetic Identification of Obesity January 24, 2024 March 1, 2027
NCT02329210 Recruiting Clinical Registry Investigating Bardet-Biedl Syndrome June 2014 December 2030
NCT02435940 Recruiting Inherited Retinal Degenerative Disease Registry June 2014 June 2037
NCT04461444 Recruiting N/A COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study June 16, 2020 February 2035
NCT00078091 Terminated Genetics and Clinical Characteristics of Bardet-Biedl Syndrome February 17, 2004 February 5, 2016
NCT03490019 Withdrawn Phase 2 Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement April 1, 2018 August 2020
Disase is a (Disease Ontology)
DOID:225
Cross Reference ID (Disease Ontology)
GARD:6866
Cross Reference ID (Disease Ontology)
ICD10CM:Q87.89
Cross Reference ID (Disease Ontology)
MESH:D020788
Cross Reference ID (Disease Ontology)
MIM:PS209900
Cross Reference ID (Disease Ontology)
NCI:C118632
Cross Reference ID (Disease Ontology)
ORDO:110
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:5619004
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0752166
OMIM Phenotype Series Number (OMIM)
PS209900
OrphaNumber from OrphaNet (Orphanet)
110
MedGen concept unique identifier (MedGen Concept name)
C0752166
MedGen unique identifier (MedGen Concept name)
156019
MeSH unique ID (MeSH (Medical Subject Headings))
D020788