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Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene.
Features include always present findings: Microcephaly, Delayed speech and language development, Large for gestational age, and Excessive hunger (polyphagia) and others; and common findings: Intellectual disability.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 2 | Microcephaly, Macrocephaly |
IFT74 encodes intraflagellar transport 74 (600 aa). Component of the intraflagellar transport (IFT) complex B: together with IFT81, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Highest expression in Testis (49.7 TPM) and Thyroid (23.0 TPM).
Bardet-Biedl syndrome 22 is associated with mutations in the IFT74 gene on chromosome 9.
IFT74 is classified as a druggable target with score 0.0.
Genetic testing for IFT74 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 12 always present features, 1 common feature.
No clinical trials have been registered for Bardet-Biedl syndrome 22.
11 publications have been identified in PubMed for Bardet-Biedl syndrome 22. Research spans Epidemiology / Natural History (55%), Case Report / Case Series (18%), and Clinical Trial Publication (18%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 6 | 55% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:36 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Bardet-Biedl syndrome 22
Brain and nerves
2 |
Delayed speech and language development, Intellectual disability |
Eyes | 2 | Visual impairment, Macular hypopigmentation |
Digestive system | 1 | Excessive hunger (polyphagia) |
Arms and legs | 1 | Postaxial foot polydactyly |
Hormones | 1 | Hypogonadism |
Age of onset: infancy, childhood, at birth.
Patient case studies
2 |
18% |
Clinical study results | 2 | 18% |
Research summaries | 1 | 9% |
Romo-Aguas JC (2026). [PMID: 42022048](https://pubmed.ncbi.nlm.nih.gov/42022048/). *Ophthalmol Sci*. [Epidemiology / Natural History]
Thiriveedi D (2026). [PMID: 41766136](https://pubmed.ncbi.nlm.nih.gov/41766136/). *Clin Endocrinol (Oxf)*. [Epidemiology / Natural History]
Jena D (2026). [PMID: 41641302](https://pubmed.ncbi.nlm.nih.gov/41641302/). *AACE Endocrinol Diabetes*. [Case Report / Case Series]
Guo Z (2025). [PMID: 41331888](https://pubmed.ncbi.nlm.nih.gov/41331888/). *Zhonghua Wei Zhong Bing Ji Jiu Yi Xue*. [Epidemiology / Natural History]
Argente J (2025). [PMID: 39549719](https://pubmed.ncbi.nlm.nih.gov/39549719/). *Lancet Diabetes Endocrinol*. [Clinical Trial Publication]
Feizabadi MH (2025). [PMID: 38407766](https://pubmed.ncbi.nlm.nih.gov/38407766/). *Biochem Genet*. [Epidemiology / Natural History]
Haqq AM (2025). [PMID: 39919037](https://pubmed.ncbi.nlm.nih.gov/39919037/). *J Clin Endocrinol Metab*. [Clinical Trial Publication]
Pomeroy J (2025). [PMID: 40456618](https://pubmed.ncbi.nlm.nih.gov/40456618/). *Pediatr Obes*. [Epidemiology / Natural History]
Yu QX (2024). [PMID: 38840299](https://pubmed.ncbi.nlm.nih.gov/38840299/). *Prenat Diagn*. [Case Report / Case Series]
Cortinhal T (2024). [PMID: 38189974](https://pubmed.ncbi.nlm.nih.gov/38189974/). *Graefes Arch Clin Exp Ophthalmol*. [Epidemiology / Natural History]
AI-curated news mentioning Bardet-Biedl syndrome 22
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.