primary ciliary dyskinesia 28
Findings
No curated finding names primary ciliary dyskinesia 28 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 SPAG1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014216), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
11 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.
- Decreased nasal nitric oxideHPOHP:0033036
- 8 of 8 reported patients
- Dynein arm defect of respiratory motile ciliaHPOHP:0012255
- 14 of 14 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 11 of 13 reported patients · Neonatal onset
- Recurrent sinusitisHPOHP:0011108
- 10 of 12 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 9 of 11 reported patients
- Situs inversus totalisHPOHP:0001696
- 9 of 14 reported patients
- Bronchiectasis
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.
- SPAG1HGNC:11212
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 28
- Also called
- CILD28ciliary dyskinesia, primary, type 28primary ciliary dyskinesia caused by mutation in SPAG1primary ciliary dyskinesia type 28SPAG1 primary ciliary dyskinesia