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Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene.
Features include always present findings: Dilatation of the renal pelvis, Nyctalopia, Chronic kidney disease, and Moderate myopia and others; and very common findings: Diabetes mellitus and Postaxial foot polydactyly. 39 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 4 | Bicuspid aortic valve, Enlarged and weakened heart (dilated cardiomyopathy), Hypertension |
BBS2 encodes Bardet-Biedl syndrome 2 (721 aa). The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. Highest expression in Nerve Tibial (125.2 TPM) and Adrenal Gland (84.1 TPM).
Bardet-Biedl syndrome 2 is associated with mutations in the BBS2 gene on chromosome 16.
The BBS2 protein participates in BBSome-mediated cargo-targeting to cilium and ARL6:GTP and the BBSome bind ciliary cargo pathways.
BBS2 is classified as a druggable target (Druggable Genome category) with score 3.3.
Genetic testing for BBS2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Bardet-Biedl syndrome 2 has been reported in the published literature.
Phenotype severity distribution: 18 always present features, 2 very common features, 5 common features.
6 clinical trials registered, 4 recruiting. Interventions under study include other interventions, gene therapy, and drug therapy. Pipeline includes 1 PHASE4, 1 EARLY_PHASE1, 1 NA. Research is sponsored by a mix of industry and academic institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT04461444](https://clinicaltrials.gov/study/NCT04461444) |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 10:41 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Bardet-Biedl syndrome 2
Arms and legs |
3 |
3-4 finger cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly |
Kidneys and urinary system | 3 | Dilatation of the renal pelvis, Chronic kidney disease, Multicystic kidney dysplasia |
Brain and nerves | 3 | Intellectual disability, Global developmental delay, Depressed nasal bridge |
Hormones | 2 | Diabetes mellitus, Hypogonadism |
Eyes | 2 | Ultra-low vision with retained light projection, Retinal degeneration |
Head and neck | 1 | Round face |
Growth and development | 1 | Intrauterine growth retardation |
COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study |
NA |
University Hospital, Strasbourg, France |
RECRUITING |
[NCT06239064](https://clinicaltrials.gov/study/NCT06239064) | Early Genetic Identification of Obesity | — | Rolfs Consulting und Verwaltungs-GmbH (RCV) | ACTIVE_NOT_RECRUITING |
[NCT07269665](https://clinicaltrials.gov/study/NCT07269665) | First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration | EARLY_PHASE1 | Axovia Therapeutics | UNKNOWN |
[NCT02435940](https://clinicaltrials.gov/study/NCT02435940) | Inherited Retinal Degenerative Disease Registry | — | Foundation Fighting Blindness | RECRUITING |
[NCT02329210](https://clinicaltrials.gov/study/NCT02329210) | Clinical Registry Investigating Bardet-Biedl Syndrome | — | Marshfield Clinic Research Foundation | RECRUITING |
33 publications have been identified in PubMed for Bardet-Biedl syndrome 2. Research spans Case Report / Case Series (30%), Epidemiology / Natural History (30%), and Basic Science / Preclinical (21%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 10 | 30% |
Disease patterns and progression | 10 | 30% |
Laboratory research | 7 | 21% |
Testing and diagnosis research | 2 | 6% |
Clinical study results | 2 | 6% |
Other research | 1 | 3% |
Research summaries | 1 | 3% |
Pons MR (2026). [PMID: 41894554](https://pubmed.ncbi.nlm.nih.gov/41894554/). *Obes Facts*. [Case Report / Case Series]
Zou J (2026). [PMID: 41654259](https://pubmed.ncbi.nlm.nih.gov/41654259/). *Mol Cell Proteomics*. [Diagnostic / Biomarker]
Thiriveedi D (2026). [PMID: 41766136](https://pubmed.ncbi.nlm.nih.gov/41766136/). *Clin Endocrinol (Oxf)*. [Epidemiology / Natural History]
Hühne T (2026). [PMID: 40903014](https://pubmed.ncbi.nlm.nih.gov/40903014/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]
Milheiro J (2026). [PMID: 41940113](https://pubmed.ncbi.nlm.nih.gov/41940113/). *Clin Nephrol Case Stud*. [Case Report / Case Series]
Guo DF (2026). [PMID: 41915029](https://pubmed.ncbi.nlm.nih.gov/41915029/). *Am J Physiol Cell Physiol*. [Basic Science / Preclinical]
Varughese RS (2026). [PMID: 42044156](https://pubmed.ncbi.nlm.nih.gov/42044156/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]
Zmysłowska-Polakowska E (2025). [PMID: 41304128](https://pubmed.ncbi.nlm.nih.gov/41304128/). *Microorganisms*. [Epidemiology / Natural History]
Harvengt J (2025). [PMID: 40822950](https://pubmed.ncbi.nlm.nih.gov/40822950/). *Front Endocrinol (Lausanne)*. [Epidemiology / Natural History]
Tomlinson JW (2025). [PMID: 40519161](https://pubmed.ncbi.nlm.nih.gov/40519161/). *J Clin Invest*. [Other]