primary ciliary dyskinesia 30
Findings
No curated finding names primary ciliary dyskinesia 30 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 CCDC151 gene.
Definition from the Mondo Disease Ontology (MONDO:0014465), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital 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.
- Ciliary dyskinesiaHPOHP:0012265
- 5 of 5 reported patients
- Decreased nasal nitric oxideHPOHP:0033036
- 1 of 1 reported patient
- Recurrent respiratory infectionsHPOHP:0002205
- 4 of 5 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 4 of 5 reported patients · Neonatal onset
- BronchiectasisHPOHP:0002110
- 2 of 3 reported patients
- Chronic sinusitisHPOHP:0011109
- 3 of 5 reported patients
- Situs inversus totalisHPO
Show the remaining 3
- Nasal congestionHPOHP:0001742
- Nasal polyposisHPOHP:0100582
- 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.
- ODAD3HGNC:28303
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · G2P · Autosomal recessive · 2015
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 30
- Also called
- CCDC151 primary ciliary dyskinesiaCILD30ciliary dyskinesia, primary, type 30primary ciliary dyskinesia caused by mutation in CCDC151primary ciliary dyskinesia type 30