primary ciliary dyskinesia 17
Findings
No curated finding names primary ciliary dyskinesia 17 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 CCDC103 gene.
Definition from the Mondo Disease Ontology (MONDO:0013854), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
10 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.
- Dynein arm defect of respiratory motile ciliaHPOHP:0012255
- 6 of 6 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 5 of 11 reported patients
- Chronic rhinitisHPOHP:0002257
- 4 of 11 reported patients
- Situs inversus totalisHPOHP:0001696
- 4 of 11 reported patients
- DextrocardiaHPOHP:0001651
- 3 of 11 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 1 of 11 reported patients
- BronchiectasisHPO
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.
- DNAAF19HGNC:32700
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 17
- Also called
- CCDC103 primary ciliary dyskinesiaCILD17ciliary dyskinesia, primary, type 17primary ciliary dyskinesia caused by mutation in CCDC103primary ciliary dyskinesia type 17