primary ciliary dyskinesia 34
Findings
No curated finding names primary ciliary dyskinesia 34 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 DNAJB13 gene.
Definition from the Mondo Disease Ontology (MONDO:0014909), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
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.
- BronchiectasisHPOHP:0002110
- 3 of 3 reported patients
- Chronic rhinitisHPOHP:0002257
- 3 of 3 reported patients
- Decreased nasal nitric oxideHPOHP:0033036
- 3 of 3 reported patients
- Immotile spermHPOHP:0012208
- 1 of 1 reported patient · Male
- Male infertilityHPOHP:0003251
- 1 of 1 reported patient · Male
- Recurrent sinusitisHPOHP:0011108
- 3 of 3 reported patients
- Reduced respiratory ciliary beating frequencyHPO
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.
- DNAJB13HGNC:30718
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · G2P · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: primary ciliary dyskinesia 34
- Also called
- CILD34ciliary dyskinesia, primary, 34ciliary dyskinesia, primary, type 34DNAJB13 primary ciliary dyskinesiaprimary ciliary dyskinesia caused by mutation in DNAJB13primary ciliary dyskinesia type 34