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Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene.
Features include always present findings: Micropenis, Mild intellectual disability, Nyctalopia, and Brachydactyly and others; and common findings: Bone spicule pigmentation of the retina, Delayed speech and language development, Postaxial polydactyly, and Macular atrophy and others. 20 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 5 | Macular atrophy, Macular dystrophy, Optic disc pallor |
BBS5 encodes Bardet-Biedl syndrome 5 (341 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 Testis (31.8 TPM) and Pituitary (26.3 TPM).
Bardet-Biedl syndrome 5 is associated with mutations in the BBS5 gene on chromosome 2.
The BBS5 protein participates in BBSome-mediated cargo-targeting to cilium and ARL6:GTP and the BBSome bind ciliary cargo pathways.
BBS5 is classified as a druggable target with score 0.0.
Genetic testing for BBS5 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Bardet-Biedl syndrome 5 has been reported in the published literature.
Phenotype severity distribution: 11 always present features, 6 common features.
No clinical trials have been registered for Bardet-Biedl syndrome 5.
21 publications have been identified in PubMed for Bardet-Biedl syndrome 5. Research spans Epidemiology / Natural History (33%), Gene Therapy / Novel Therapeutics (24%), and Case Report / Case Series (19%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 7 | 33% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Bardet-Biedl syndrome 5
Brain and nerves | 2 | Delayed speech and language development, Mild intellectual disability |
Bones and joints | 1 | Bone spicule pigmentation of the retina |
Arms and legs | 1 | Clinodactyly of the 5th finger |
Muscles | 1 | Macular atrophy |
Hormones | 1 | Hypogonadism |
New treatment approaches
5 |
24% |
Patient case studies | 4 | 19% |
Testing and diagnosis research | 2 | 10% |
Laboratory research | 2 | 10% |
Clinical study results | 1 | 5% |
Varughese RS (2026). [PMID: 42044156](https://pubmed.ncbi.nlm.nih.gov/42044156/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]
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/). *Clinical endocrinology*. [Epidemiology / Natural History]
Pons MR (2026). [PMID: 41894554](https://pubmed.ncbi.nlm.nih.gov/41894554/). *Obes Facts*. [Case Report / Case Series]
Hühne T (2026). [PMID: 40903014](https://pubmed.ncbi.nlm.nih.gov/40903014/). *The Journal of clinical endocrinology and metabolism*. [Gene Therapy / Novel Therapeutics]
Fan X (2025). [PMID: 39856360](https://pubmed.ncbi.nlm.nih.gov/39856360/). *Scientific reports*. [Diagnostic / Biomarker]
Argente J (2025). [PMID: 39549719](https://pubmed.ncbi.nlm.nih.gov/39549719/). *The lancet. Diabetes & endocrinology*. [Epidemiology / Natural History]
Ercoskun P (2025). [PMID: 39731278](https://pubmed.ncbi.nlm.nih.gov/39731278/). *Clinical genetics*. [Epidemiology / Natural History]
Pomeroy J (2025). [PMID: 40847358](https://pubmed.ncbi.nlm.nih.gov/40847358/). *Orphanet journal of rare diseases*. [Diagnostic / Biomarker]
Clément K (2025). [PMID: 40744503](https://pubmed.ncbi.nlm.nih.gov/40744503/). *Clinical obesity*. [Gene Therapy / Novel Therapeutics]
AI-curated news mentioning Bardet-Biedl syndrome 5
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.