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Features include always present findings: Nyctalopia and Cryptorchidism; and common findings: Syndactyly and Intellectual disability. 14 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 2 | Abnormality of the kidney, Renal cyst |
BBS4 encodes Bardet-Biedl syndrome 4 (519 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 (36.2 TPM) and Pituitary (34.1 TPM).
Bardet-Biedl syndrome 4 is associated with mutations in the BBS4 gene on chromosome 15.
The BBS4 protein participates in BBSome-mediated cargo-targeting to cilium and ARL6:GTP and the BBSome bind ciliary cargo pathways.
BBS4 is classified as a druggable target with score 6.5.
Genetic testing for BBS4 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features, 2 common features.
No clinical trials have been registered for Bardet-Biedl syndrome 4.
1 publication has been identified in PubMed for Bardet-Biedl syndrome 4. Research spans Basic Science / Preclinical (100%).
Li K (2025). [PMID: 40801568](https://pubmed.ncbi.nlm.nih.gov/40801568/). *Cells*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:06 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Bardet-Biedl syndrome 4
1 |
Retinal degeneration |
Hormones | 1 | Hypogonadism |
Brain and nerves | 1 | Intellectual disability |
Age of onset: adolescence.
AI-curated news mentioning Bardet-Biedl syndrome 4
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.