primary ciliary dyskinesia 15
Findings
No curated finding names primary ciliary dyskinesia 15 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 CCDC40 gene.
Definition from the Mondo Disease Ontology (MONDO:0013435), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
16 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.
- Chronic bronchitisHPOHP:0004469
- 35 of 35 reported patients
- CoughHPOHP:0012735
- 35 of 35 reported patients
- Immotile spermHPOHP:0012208
- 2 of 2 reported patients
- WheezingHPOHP:0030828
- 35 of 35 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 34 of 36 reported patients
- Chronic sinusitisHPOHP:0011109
- 31 of 34 reported patients
- RhinorrheaHPOHP:0031417
Show the remaining 4
- Nasal polyposisHPOHP:0100582
- 4 of 34 reported patients
- Abnormal axonemal organization of respiratory motile ciliaHPOHP:0012258
- Ciliary dyskinesiaHPOHP:0012265
- InfertilityHPOHP:0000789
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.
- CCDC40HGNC:26090
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 15
- Also called
- CCDC40 primary ciliary dyskinesiaCILD15ciliary dyskinesia, primary, type 15primary ciliary dyskinesia caused by mutation in CCDC40primary ciliary dyskinesia type 15