primary ciliary dyskinesia
Findings
No curated finding names primary ciliary dyskinesia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).
Definition from the Mondo Disease Ontology (MONDO:0016575), read 2026-09-29. CC BY 4.0.
Features
46 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal sperm motilityHPOHP:0012206
- Frequent (30% to 79% of cases)
- Abnormal sputumHPOHP:0032016
- Frequent (30% to 79% of cases)
- Chronic otitis mediaHPOHP:0000389
- Frequent (30% to 79% of cases)
- Chronic rhinitisHPOHP:0002257
- Frequent (30% to 79% of cases)
- Chronic sinusitisHPOHP:0011109
- Frequent (30% to 79% of cases)
- Male infertilityHPOHP:0003251
- Frequent (30% to 79% of cases)
- Nasal congestionHPOHP:0001742
- Frequent (30% to 79% of cases)
- Nasal polyposisHPOHP:0100582
- Frequent (30% to 79% of cases)
- Neonatal respiratory distressHPOHP:0002643
- Frequent (30% to 79% of cases)
- Productive coughHPOHP:0031245
- Frequent (30% to 79% of cases)
- Recurrent otitis mediaHPOHP:0000403
- Frequent (30% to 79% of cases)
- Recurrent sinopulmonary infectionsHPOHP:0005425
- Frequent (30% to 79% of cases)
Show the remaining 34
- Respiratory tract infectionHPOHP:0011947
- Frequent (30% to 79% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Occasional (5% to 29% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
- Abnormality of the genitourinary systemHPOHP:0000119
- Occasional (5% to 29% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Occasional (5% to 29% of cases)
- Airway obstructionHPOHP:0006536
Genes
61 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:33720HGNC:33720
- Definitive · ClinGen · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2019
- SPEF2HGNC:26293
- Definitive · ClinGen · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- DNAH7HGNC:18661
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2025
- CCDC39HGNC:25244
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (59)
- CFAP46-related primary ciliary dyskinesia
- ciliary discoordination due to random ciliary orientation
- ciliary dyskinesia with defective radial spokes
- ciliary dyskinesia with excessively long cilia
- ciliary dyskinesia with transposition of ciliary microtubules
- ciliary dyskinesia, primary, 36, X-linked
- ciliary dyskinesia, primary, 37
- ciliary dyskinesia, primary, 38
- ciliary dyskinesia, primary, 39
- ciliary dyskinesia, primary, 40
- ciliary dyskinesia, primary, 41
- ciliary dyskinesia, primary, 42
- ciliary dyskinesia, primary, 43
- ciliary dyskinesia, primary, 44
- ciliary dyskinesia, primary, 45
- ciliary dyskinesia, primary, 46
- ciliary dyskinesia, primary, 47, and lissencephaly
Other names
3 names
Resolves to: primary ciliary dyskinesia
- Also called
- Kartagener syndromeKartagener's syndromePCD