ciliary dyskinesia, primary, 54
Findings
No curated finding names ciliary dyskinesia, primary, 54 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP54 gene.
Definition from the Mondo Disease Ontology (MONDO:0100607), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
9 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 axoneme morphologyHPOHP:0033524
- 1 of 1 reported patient
- Absent sperm flagellaHPOHP:0032558
- 1 of 1 reported patient
- AsthmaHPOHP:0002099
- 1 of 1 reported patient
- AtelectasisHPOHP:0100750
- 1 of 1 reported patient
- BronchiectasisHPOHP:0002110
- 2 of 2 reported patients
- PneumoniaHPOHP:0002090
- 1 of 1 reported patient
- Productive coughHPOHP:0031245
Genes
1 gene
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.
- CFAP54HGNC:26456
- Strong · ClinGen · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: ciliary dyskinesia, primary, 54
- Also called
- CFAP54-related primary ciliary dyskinesia