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Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene.
Features include always present findings: Bone spicule pigmentation of the retina, Polydactyly, Attenuation of retinal blood vessels, and Intellectual disability and others; and very common findings: Rod-cone dystrophy. 7 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 2 | Global developmental delay, Intellectual disability |
MKS1 encodes MKS transition zone complex subunit 1 (559 aa). Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Highest expression in Testis (24.3 TPM) and Ovary (22.3 TPM).
Bardet-Biedl syndrome 13 is associated with mutations in the MKS1 gene on chromosome 17.
MKS1 is classified as a druggable target with score 0.0.
Genetic testing for MKS1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Bardet-Biedl syndrome 13 has been reported in the published literature.
Phenotype severity distribution: 5 always present features, 1 very common feature, 1 common feature.
No clinical trials have been registered for Bardet-Biedl syndrome 13.
35 publications have been identified in PubMed for Bardet-Biedl syndrome 13. Research spans Case Report / Case Series (34%), Basic Science / Preclinical (34%), and Review / Meta-Analysis (11%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 12 | 34% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:11 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Bardet-Biedl syndrome 13
Bones and joints |
1 |
Bone spicule pigmentation of the retina |
Eyes | 1 | Attenuation of retinal blood vessels |
12 |
34% |
Research summaries | 4 | 11% |
Disease patterns and progression | 3 | 9% |
Testing and diagnosis research | 2 | 6% |
Clinical study results | 1 | 3% |
New treatment approaches | 1 | 3% |
Berggreen CR (2026). [PMID: 41742018](https://pubmed.ncbi.nlm.nih.gov/41742018/). *BMC molecular and cell biology*. [Epidemiology / Natural History]
Min J (2026). [PMID: 41659209](https://pubmed.ncbi.nlm.nih.gov/41659209/). *Genes & diseases*. [Review / Meta-Analysis]
Romo-Aguas JC (2026). [PMID: 42022048](https://pubmed.ncbi.nlm.nih.gov/42022048/). *Ophthalmol Sci*. [Epidemiology / Natural History]
AbouZeid AA (2026). [PMID: 40795933](https://pubmed.ncbi.nlm.nih.gov/40795933/). *European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie*. [Basic Science / Preclinical]
Jena D (2026). [PMID: 41641302](https://pubmed.ncbi.nlm.nih.gov/41641302/). *AACE endocrinology and diabetes*. [Basic Science / Preclinical]
Argente J (2025). [PMID: 39549719](https://pubmed.ncbi.nlm.nih.gov/39549719/). *The lancet. Diabetes & endocrinology*. [Clinical Trial Publication]
Mehmood AM (2025). [PMID: 40741115](https://pubmed.ncbi.nlm.nih.gov/40741115/). *Clinical case reports*. [Case Report / Case Series]
Asghar A (2025). [PMID: 40384762](https://pubmed.ncbi.nlm.nih.gov/40384762/). *Molecular vision*. [Basic Science / Preclinical]
Clément K (2025). [PMID: 40744503](https://pubmed.ncbi.nlm.nih.gov/40744503/). *Clinical obesity*. [Case Report / Case Series]
Nitoiu A (2025). [PMID: 40273360](https://pubmed.ncbi.nlm.nih.gov/40273360/). *Human molecular genetics*. [Basic Science / Preclinical]
AI-curated news mentioning Bardet-Biedl syndrome 13
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.