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Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene.
Features include always present findings: Deeply set eye, Narrow mouth, Malar flattening, and 2-3 toe syndactyly and others; and very common findings: Rod-cone dystrophy.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 2 | Depressed nasal bridge, Intellectual disability |
BBS7 encodes Bardet-Biedl syndrome 7 (715 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 Cells Cultured fibroblasts (22.0 TPM) and Brain Cerebellar Hemisphere (21.1 TPM).
Bardet-Biedl syndrome 7 is associated with mutations in the BBS7 gene on chromosome 4.
The BBS7 protein participates in BBSome-mediated cargo-targeting to cilium, ARL6:GTP and the BBSome bind ciliary cargo, and Formation of the BBSome pathways.
BBS7 is classified as a druggable target with score 0.0.
Genetic testing for BBS7 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Bardet-Biedl syndrome 7 has been reported in the published literature.
Phenotype severity distribution: 12 always present features, 1 very common feature.
No clinical trials have been registered for Bardet-Biedl syndrome 7.
27 publications have been identified in PubMed for Bardet-Biedl syndrome 7. Research spans Basic Science / Preclinical (33%), Epidemiology / Natural History (22%), and Case Report / Case Series (15%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 9 | 33% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 5:20 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Bardet-Biedl syndrome 7
1 |
2-3 toe syndactyly |
Hormones | 1 | Hypogonadism |
6 |
22% |
Patient case studies | 4 | 15% |
Research summaries | 3 | 11% |
New treatment approaches | 3 | 11% |
Testing and diagnosis research | 1 | 4% |
Clinical study results | 1 | 4% |
Mahler EA (2026). [PMID: 41238926](https://pubmed.ncbi.nlm.nih.gov/41238926/). *Die Ophthalmologie*. [Review / Meta-Analysis]
Min J (2026). [PMID: 41659209](https://pubmed.ncbi.nlm.nih.gov/41659209/). *Genes & diseases*. [Epidemiology / Natural History]
Hühne T (2026). [PMID: 40903014](https://pubmed.ncbi.nlm.nih.gov/40903014/). *The Journal of clinical endocrinology and metabolism*. [Basic Science / Preclinical]
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*. [Case Report / Case Series]
Liu X (2025). [PMID: 40914337](https://pubmed.ncbi.nlm.nih.gov/40914337/). *Experimental eye research*. [Epidemiology / Natural History]
Vázquez-Folch SJ (2025). [PMID: 41552087](https://pubmed.ncbi.nlm.nih.gov/41552087/). *Cureus*. [Basic Science / Preclinical]
Yang X (2025). [PMID: 41064051](https://pubmed.ncbi.nlm.nih.gov/41064051/). *Molecular syndromology*. [Basic Science / Preclinical]
McEntee KE (2025). [PMID: 41279107](https://pubmed.ncbi.nlm.nih.gov/41279107/). *bioRxiv : the preprint server for biology*. [Gene Therapy / Novel Therapeutics]
AI-curated news mentioning Bardet-Biedl syndrome 7
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.