primary ciliary dyskinesia 33
MONDO:0014750Mondo
Findings
No curated finding names primary ciliary dyskinesia 33 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 GAS8 gene.
Definition from the Mondo Disease Ontology (MONDO:0014750), read 2026-09-29. CC BY 4.0.
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.
- AtelectasisHPOHP:0100750
- BronchiectasisHPOHP:0002110
- Chronic rhinitisHPOHP:0002257
- Ciliary dyskinesiaHPOHP:0012265
- Conductive hearing impairmentHPOHP:0000405
- CoughHPOHP:0012735
- Recurrent bronchitisHPOHP:0002837
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- Recurrent otitis mediaHPOHP:0000403
- Recurrent pneumoniaHPOHP:0006532
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.
- DRC4HGNC:4166
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
6 names
Resolves to: primary ciliary dyskinesia 33
- Also called
- CILD33ciliary dyskinesia, primary, 33ciliary dyskinesia, primary, type 33GAS8 primary ciliary dyskinesiaprimary ciliary dyskinesia caused by mutation in GAS8primary ciliary dyskinesia type 33