primary ciliary dyskinesia
SaudiVarKB evidence summary derived from retained literature mentions.
28Phenotype mentions
28Publications
31Associated gene records
16Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| RSPH9 | HGNC:21057 | 4 | 4 |
| DNAH5 | HGNC:2950 | 3 | 3 |
| CFTR | HGNC:1884 | 2 | 2 |
| CCDC39 | HGNC:25244 | 2 | 2 |
| CCNO | HGNC:18576 | 2 | 2 |
| DNAH11 | HGNC:2942 | 2 | 2 |
| NEK10 | HGNC:18592 | 2 | 2 |
| CTSC | HGNC:2528 | 1 | 1 |
| DNAI2 | HGNC:18744 | 1 | 1 |
| LRRC56 | HGNC:25430 | 1 | 1 |
| DNAH9 | HGNC:2953 | 1 | 1 |
| DNAI1 | HGNC:2954 | 1 | 1 |
| CCDC40 | HGNC:26090 | 1 | 1 |
| AKNA | HGNC:24108 | 1 | 1 |
| GOLGA3 | HGNC:4426 | 1 | 1 |
| ITCH | HGNC:13890 | 1 | 1 |
| CEP164 | HGNC:29182 | 1 | 1 |
| FSHR | HGNC:3969 | 1 | 1 |
| DNAH1 | HGNC:2940 | 1 | 1 |
| PLK1 | HGNC:9077 | 1 | 1 |
| DCDC2 | HGNC:18141 | 1 | 1 |
| TLE6 | HGNC:30788 | 1 | 1 |
| NLRP7 | HGNC:22947 | 1 | 1 |
| ZP1 | HGNC:13187 | 1 | 1 |
| NLRP5 | HGNC:21269 | 1 | 1 |
| CCDC68 | HGNC:24350 | 1 | 1 |
| CBX3 | HGNC:1553 | 1 | 1 |
| CENPH | HGNC:17268 | 1 | 1 |
| PABPC1L | HGNC:15797 | 1 | 1 |
| PIF1 | HGNC:26220 | 1 | 1 |
| REXO4 | HGNC:12820 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| c.508C>T | c.508C>T | 1 | 1 |
| c.2230_2233del | c.2230_2233del | 1 | 1 |
| c.804_806del | c.804_806del | 1 | 1 |
| c.2190del | c.2190del | 1 | 1 |
| p.Gly21Val | p.Gly21Val | 1 | 1 |
| p.Arg113Ter | p.Arg113Ter | 1 | 1 |
| rs558323413 | rs558323413 | 1 | 1 |
| p.Gly3102Asp | p.Gly3102Asp | 1 | 1 |
| p.Leu3127Arg | p.Leu3127Arg | 1 | 1 |
| p.Tyr1134* | p.Tyr1134* | 1 | 1 |
| c.899G>A | c.899G>A | 1 | 1 |
| p.Lys1154Gln | p.Lys1154Gln | 1 | 1 |
| p.G300D | p.G300D | 1 | 1 |
| c.925G>T | c.925G>T | 1 | 1 |
| E309* | E309* | 1 | 1 |
| c.558del | c.558del | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 3 | 3 |
| Population record | Cohort 25 | 2 | 2 |
| Population record | Cohort 0 | 1 | 1 |
| Population record | Cohort 353 | 1 | 1 |
| Saudi Arabia | Cohort 2,023 | 1 | 1 |
| Saudi Arabia | Cohort 16 | 1 | 1 |
| Population record | Cohort 66 | 1 | 1 |
| Saudi Arabia · Jazan | — | 1 | 1 |
| Saudi Arabia | Cohort 18 | 1 | 1 |
| Population record | Cohort 81 | 1 | 1 |
| Saudi Arabia | Cohort 10 | 1 | 1 |
| Saudi Arabia | Cohort 256 | 1 | 1 |
| Population record | Cohort 238 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 22 | 1 | 1 |
Supporting publications
28 records- 2026Bronchiectasis in a child with a homozygous DCDC2 gene mutation: A case report.Journal of Taibah University Medical Sciences1 mentions
- 2026Physical inactivity in chronic airways disease: an important candidate in the treatable traits paradigm.European respiratory review : an official journal of the European Respiratory Society1 mentions
- 2025A Rare Tetrad of Sickle Cell Disease, Vascular Ehlers-Danlos Syndrome, Primary Ciliary Dyskinesia, and Phelan-McDermid Syndrome in a Saudi Child: A Complex Multisystem Pediatric Case Report.Pediatric reports1 mentions
- 2025CCDC39 Mutation-Related Primary Ciliary Dyskinesia with Congenitally Corrected Transposition of the Great Arteries: A Case Report.The American journal of case reports1 mentions
- 2025Beyond bacteria and breaking the norm: Pulmonary mucormycosis due to Absidia corymbifera in a child with primary ciliary dyskinesia.The Journal of international medical research1 mentions
- 2025Novel homozygous C3orf67 gene variant associated with primary ciliary dyskinesia in a Saudi pediatric patient: A case report.World journal of experimental medicine1 mentions
- 2024Cystic Lung Changes, Bronchiectasis, and a Heterozygous-Primary Ciliary Dyskinesia-Associated Variant in the DNAH5 Gene: A Diagnostic Challenge.The American journal of case reports1 mentions
- 2024Novel CYCLIN-O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia.Respirology case reports1 mentions
- 2023In children with primary ciliary dyskinesia, which type of lung function test is the earliest determinant of decline in lung health: A systematic review.Pediatric pulmonology1 mentions
- 2023Olfaction and Gustation in Children With Primary Ciliary Dyskinesia.OTO open1 mentions
- 2023Clinical and Genetic Characterization of Patients with Primary Ciliary Dyskinesia in Southwest Saudi Arabia: A Cross Sectional Study.Children (Basel, Switzerland)1 mentions
- 2022Otolaryngology Manifestations of Primary Ciliary Dyskinesia: A Multicenter Study.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery1 mentions
- 2022Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.Journal of human genetics1 mentions
- 2022Vestibular and Balance Impairment Is Common in Children With Primary Ciliary Dyskinesia.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology1 mentions
- 2022An Under-Recognized Disease: A Rare Case of Idiopathic CD4 Lymphopenia Mislabeled as Primary Ciliary Dyskinesia.Children (Basel, Switzerland)1 mentions
- 2022A Novel DNAH9 Gene Mutation Causing Primary Ciliary Dyskinesia With an Unusual Association of Jejunal Atresia in a Bahraini Child.Cureus1 mentions
- 2021Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience.International journal of pediatrics & adolescent medicine1 mentions
- 2021A Study on the Genetics of Primary Ciliary Dyskinesia.Journal of clinical medicine1 mentions
- 2020A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance.Nature medicine1 mentions
- 2020A genomics approach to females with infertility and recurrent pregnancy loss.Human genetics1 mentions
- 2020An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.Human genetics1 mentions
- 2020Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report.BMC pulmonary medicine1 mentions
- 2019Primary ciliary dyskinesia among Arabs: Where do we go from here?Paediatric respiratory reviews1 mentions
- 2015Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.PloS one1 mentions
- 2015Variation in DNAH1 may contribute to primary ciliary dyskinesia.BMC medical genetics1 mentions
- 2014Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.Human mutation1 mentions
- 2013Significance of fractional exhaled nitric oxide measurements in detecting primary ciliary dyskinesia in Saudi children.Saudi medical journal1 mentions
- 2012From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula.Annals of human genetics1 mentions