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Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene.
Features include always present findings: Bone spicule pigmentation of the retina, Brachydactyly, Hyperglycemia, and Irregular menstruation and others; and common findings: Astigmatism, Strabismus, Reduced kidney function (renal insufficiency), and Polydactyly and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 4 | Strabismus, Cataract, Attenuation of retinal blood vessels |
BBS9 encodes Bardet-Biedl syndrome 9 (887 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 Pituitary (16.3 TPM) and Thyroid (15.2 TPM).
Bardet-Biedl syndrome 9 is associated with mutations in the BBS9 gene on chromosome 7.
The BBS9 protein participates in BBSome-mediated cargo-targeting to cilium pathway.
BBS9 is classified as a druggable target with score 0.0.
Genetic testing for BBS9 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Bardet-Biedl syndrome 9 has been reported in the published literature.
Phenotype severity distribution: 16 always present features, 7 common features.
No clinical trials have been registered for Bardet-Biedl syndrome 9.
21 publications have been identified in PubMed for Bardet-Biedl syndrome 9. Research spans Epidemiology / Natural History (45%), Case Report / Case Series (20%), and Basic Science / Preclinical (15%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 9 | 45% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Bardet-Biedl syndrome 9
Brain and nerves |
3 |
Intellectual disability, Delayed speech and language development, Global developmental delay |
Arms and legs | 2 | Postaxial hand polydactyly, Postaxial foot polydactyly |
Bones and joints | 1 | Bone spicule pigmentation of the retina |
Kidneys and urinary system | 1 | Reduced kidney function (renal insufficiency) |
Digestive system | 1 | Excessive hunger (polyphagia) |
Patient case studies
4 |
20% |
Laboratory research | 3 | 15% |
Research summaries | 2 | 10% |
Testing and diagnosis research | 1 | 5% |
Clinical study results | 1 | 5% |
Guo DF (2026). [PMID: 41915029](https://pubmed.ncbi.nlm.nih.gov/41915029/). *Am J Physiol Cell Physiol*. [Basic Science / Preclinical]
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]
Zmysłowska-Polakowska E (2025). [PMID: 41304128](https://pubmed.ncbi.nlm.nih.gov/41304128/). *Microorganisms*. [Epidemiology / Natural History]
Seyedtaghia MR (2025). [PMID: 40252141](https://pubmed.ncbi.nlm.nih.gov/40252141/). *Biochem Genet*. [Case Report / Case Series]
Rustad CF (2025). [PMID: 40087798](https://pubmed.ncbi.nlm.nih.gov/40087798/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Li JM (2025). [PMID: 39618083](https://pubmed.ncbi.nlm.nih.gov/39618083/). *Ophthalmic Genet*. [Basic Science / Preclinical]
Haggerty K (2025). [PMID: 41333852](https://pubmed.ncbi.nlm.nih.gov/41333852/). *Obes Pillars*. [Case Report / Case Series]
Fan X (2025). [PMID: 39856360](https://pubmed.ncbi.nlm.nih.gov/39856360/). *Sci Rep*. [Epidemiology / Natural History]
Guo Z (2025). [PMID: 41331888](https://pubmed.ncbi.nlm.nih.gov/41331888/). *Zhonghua Wei Zhong Bing Ji Jiu Yi Xue*. [Epidemiology / Natural History]
AI-curated news mentioning Bardet-Biedl syndrome 9
Updated Jul 8, 2026
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.