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Features include always present findings: Borderline intellectual disability, Constriction of peripheral visual field, Astigmatism, and Nyctalopia and others; and common findings: Rod-cone dystrophy, Preaxial foot polydactyly, Micropenis, and Hypercholesterolemia and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 3 | Borderline intellectual disability, Delayed speech and language development, Global developmental delay |
IFT172 encodes intraflagellar transport 172 (1,749 aa). Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway Highest expression in Testis (57.3 TPM) and Pituitary (51.2 TPM).
Bardet-Biedl syndrome 20 is associated with mutations in the IFT172 gene on chromosome 2.
IFT172 is classified as a druggable target with score 0.0.
Genetic testing for IFT172 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Bardet-Biedl syndrome 20 has been reported in the published literature.
Phenotype severity distribution: 14 always present features, 12 common features.
No clinical trials have been registered for Bardet-Biedl syndrome 20.
32 publications have been identified in PubMed for Bardet-Biedl syndrome 20. Research spans Epidemiology / Natural History (38%), Basic Science / Preclinical (22%), and Case Report / Case Series (19%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 12 | 38% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:57 AM UTC
Online Mendelian Inheritance in Man
Common questions about Bardet-Biedl syndrome 20
Arms and legs | 3 | Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly |
Digestive system | 2 | Elevated circulating hepatic transaminase concentration, Pancreatitis |
Eyes | 1 | Retinal vascular tortuosity |
Lab test results | 1 | Elevated circulating hepatic transaminase concentration |
Lungs and breathing | 1 | Asthma |
Kidneys and urinary system | 1 | Protein in the urine (proteinuria) |
Hormones | 1 | Male hypogonadism |
Heart and blood vessels | 1 | Atrial septal defect |
Age of onset: adolescence, childhood, at birth.
Laboratory research
7 |
22% |
Patient case studies | 6 | 19% |
Research summaries | 2 | 6% |
Clinical study results | 2 | 6% |
Other research | 1 | 3% |
Testing and diagnosis research | 1 | 3% |
New treatment approaches | 1 | 3% |
Rustad CF (2026). [PMID: 42157030](https://pubmed.ncbi.nlm.nih.gov/42157030/). *Am J Med Genet A*. [Epidemiology / Natural History]
Romo-Aguas JC (2026). [PMID: 42022048](https://pubmed.ncbi.nlm.nih.gov/42022048/). *Ophthalmol Sci*. [Epidemiology / Natural History]
Aziz A (2026). [PMID: 41832542](https://pubmed.ncbi.nlm.nih.gov/41832542/). *J Med Case Rep*. [Case Report / Case Series]
Brewer KM (2026). [PMID: 41512914](https://pubmed.ncbi.nlm.nih.gov/41512914/). *Developmental biology*. [Basic Science / Preclinical]
Milheiro J (2026). [PMID: 41940113](https://pubmed.ncbi.nlm.nih.gov/41940113/). *Clinical nephrology. Case studies*. [Case Report / Case Series]
Finkelberg I (2025). [PMID: 40484968](https://pubmed.ncbi.nlm.nih.gov/40484968/). *Orphanet journal of rare diseases*. [Other]
Ogden T (2025). [PMID: 41140280](https://pubmed.ncbi.nlm.nih.gov/41140280/). *Journal of cell science*. [Review / Meta-Analysis]
Pomeroy J (2025). [PMID: 40456618](https://pubmed.ncbi.nlm.nih.gov/40456618/). *Pediatric obesity*. [Epidemiology / Natural History]
Haggerty K (2025). [PMID: 41333852](https://pubmed.ncbi.nlm.nih.gov/41333852/). *Obesity pillars*. [Case Report / Case Series]
Pomeroy J (2025). [PMID: 40847358](https://pubmed.ncbi.nlm.nih.gov/40847358/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]
AI-curated news mentioning Bardet-Biedl syndrome 20
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.