primary ciliary dyskinesia 1
Findings
No curated finding names primary ciliary dyskinesia 1 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 DNAI1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009484), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
7 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.
- Absent outer dynein armsHPOHP:0012256
- 1 of 1 reported patient
- AtelectasisHPOHP:0100750
- 1 of 1 reported patient
- Chronic otitis mediaHPOHP:0000389
- 1 of 1 reported patient
- Chronic sinusitisHPOHP:0011109
- 1 of 1 reported patient
- Immotile ciliaHPOHP:0012263
- 1 of 1 reported patient
- Recurrent bronchitisHPOHP:0002837
- 1 of 1 reported patient
- Ciliary dyskinesiaHPOHP:0012265
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.
- DNAI1HGNC:2954
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 1
- Also called
- CILD1ciliary dyskinesia, primary, type 1DNAI1 primary ciliary dyskinesiaprimary ciliary dyskinesia caused by mutation in DNAI1primary ciliary dyskinesia type 1