Phenotypes associated with the disease primary ciliary dyskinesia 28 (OMIM:615505):
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: PCS. Frequency: 9/14. (PMID:24055112)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 6/12. (PMID:24055112)
- Decreased nasal nitric oxide (HP:0033036): Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure. Evidence: PCS. Frequency: 8/8. (PMID:24055112)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 10/12. (PMID:24055112)
- Respiratory insufficiency due to defective ciliary clearance (HP:0200073). Evidence: PCS. (PMID:24055112)
- Ciliary dyskinesia (HP:0012265): A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia. Evidence: PCS. (PMID:24055112)
- Dynein arm defect of respiratory motile cilia (HP:0012255): An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy. Evidence: PCS. Frequency: 14/14. (PMID:24055112)
- Rhinitis (HP:0012384): Inflammation of the nasal mucosa with nasal congestion. Evidence: TAS. (OMIM:615505)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:24055112)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 9/11. (PMID:24055112)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. (PMID:24055112)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 11/13. Onset: Neonatal onset (HP:0003623). (PMID:24055112)
- Chronic bronchitis (HP:0004469): Chronic inflammation of the bronchi. Evidence: PCS. (PMID:24055112)