primary ciliary dyskinesia 5
Findings
No curated finding names primary ciliary dyskinesia 5 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 HYDIN gene.
Definition from the Mondo Disease Ontology (MONDO:0012088), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
15 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.
- Bronchial wall thickeningHPOHP:0033542
- 1 of 1 reported patient
- BronchiectasisHPOHP:0002110
- 9 of 9 reported patients
- Chronic bronchitisHPOHP:0004469
- 9 of 9 reported patients
- Chronic rhinitisHPOHP:0002257
- 9 of 9 reported patients
- Ciliary dyskinesiaHPOHP:0012265
- 12 of 12 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 11 of 11 reported patients
- Recurrent sinusitisHPOHP:0011108
Show the remaining 3
- Recurrent pneumoniaHPOHP:0006532
- Recurrent respiratory infectionsHPOHP:0002205
- Respiratory insufficiency due to defective ciliary clearanceHPOHP:0200073
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.
- HYDINHGNC:19368
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 5
- Also called
- CILD5ciliary dyskinesia, primary, type 5HYDIN primary ciliary dyskinesiaprimary ciliary dyskinesia caused by mutation in HYDINprimary ciliary dyskinesia type 5