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Young syndrome is characterized by the association of obstructive azoospermia with recurrent sinobronchial infections.
Features include: Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, and Recurrent bronchitis and 1 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Lungs and breathing | 3 | Congenital pulmonary airway malformation, Bronchiectasis, Recurrent bronchitis |
CFAP221 encodes cilia and flagella associated protein 221 (840 aa). May play a role in cilium morphogenesis and ciliary function Highest expression in Testis (20.9 TPM) and Kidney Medulla (7.6 TPM).
Young syndrome is associated with mutations in the CFAP221 gene on chromosome 2.
CFAP221 is classified as a druggable target with score 0.0.
Genetic testing for CFAP221 is available. Testing is considered confirmatory for diagnosis.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for Young syndrome.
5 publications have been identified in PubMed for Young syndrome. Research spans Case Report / Case Series (80%) and Review / Meta-Analysis (20%).
Ito M (2025). [PMID: 38960684](https://pubmed.ncbi.nlm.nih.gov/38960684/). *Internal medicine (Tokyo, Japan)*. [Case Report / Case Series]
Brown M (2025). [PMID: 40287162](https://pubmed.ncbi.nlm.nih.gov/40287162/). *BMJ case reports*. [Case Report / Case Series]
Despotes KA (2024). [PMID: 38891105](https://pubmed.ncbi.nlm.nih.gov/38891105/). *Cells*. [Review / Meta-Analysis]
Hjeij R (2024). [PMID: 38920647](https://pubmed.ncbi.nlm.nih.gov/38920647/). *Cells*. [Case Report / Case Series]
Karnan A (2024). [PMID: 39119117](https://pubmed.ncbi.nlm.nih.gov/39119117/). *The Pan African medical journal*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:00 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Young syndrome
1 |
Recurrent sinopulmonary infections |
Pregnancy and birth | 1 | Congenital pulmonary airway malformation |