| domain | finding | quantitative detail | evidence type/source |
|---|---|---|---|
| Disease identity | ODAD3/CCDC151-related primary ciliary dyskinesia corresponds to a gene-specific form of PCD; ODAD3 is the current HGNC-approved symbol for the former CCDC151 gene product name “outer dynein arm docking complex subunit 3” | Open Targets links ODAD3 to primary ciliary dyskinesia; historical literature uses CCDC151 | Curated disease-target association plus primary human gene-discovery paper (pqac-00000000, pqac-00000002) |
| Inheritance | Inheritance is autosomal recessive | Segregation consistent with recessive disease in reported families | Human clinical genetics/segregation study (pqac-00000009, pqac-00000012) |
| Causal variants | Two recurrent truncating variants were identified in the foundational series | c.925G>T (p.Glu309*) and c.1256C>A (p.Ser419*); both absent from 1000 Genomes and EVS in the 2014 report | Human NGS/exome plus Sanger confirmation (pqac-00000009) |
| Reported patients/families | Foundational disease-specific evidence base is very small | 5 affected individuals from 3 unrelated families | Human case series/gene-discovery study (pqac-00000002, pqac-00000009) |
| Core respiratory phenotype | All reported affected individuals had a phenotype consistent with PCD | Recurrent upper and lower airway disease, chronic respiratory symptoms, bronchiectasis, nasal blockage/polyps, otitis media reported across the 5-person series | Human clinical case series (pqac-00000009) |
| Neonatal onset | Early presentation is typical in the reported gene-specific cases | 4/5 had very early involvement with neonatal respiratory distress syndrome | Human clinical case series (pqac-00000009) |
| Laterality phenotype | Laterality defects are common in this gene-specific form | 4/5 had laterality defects; one had congenital heart disease (ventricular septal defect) | Human clinical case series (pqac-00000009) |
| Ultrastructure | Hallmark ciliary defect is isolated outer dynein arm loss | Respiratory cilia showed complete ODA loss and specific loss of ODAs on TEM | Human TEM plus conserved model-organism data (pqac-00000002, pqac-00000003) |
| Protein localization defect | ODAD3/CCDC151 loss disrupts axonemal assembly of ODA machinery | CCDC151 severely reduced or absent from axonemes; axonemal DNAH5, CCDC114, and ARMC4 fail to localize properly | Human immunofluorescence and protein-interaction data (pqac-00000002, pqac-00000008) |
| Mechanism | Disease mechanism is failure of outer dynein arm docking-complex formation | CCDC151 interacts with CCDC114 and is required for assembly of ODA docking components and ODAs onto axonemes | Human co-immunoprecipitation, IF, TEM; mouse/zebrafish corroboration (pqac-00000002, pqac-00000008) |
| Ciliary function | Ciliary beating is severely impaired because ODA force-generating machinery is lost | Report described severely impaired ciliary beating or dysmotility associated with ODA deficiency | Human respiratory cilia studies with animal corroboration (pqac-00000002) |
| Model-organism support | Conservation across species strongly supports causality | CCDC151-deficient zebrafish and mouse show ciliary dysmotility, situs defects, and complex heart defects; prior work also cites Chlamydomonas and Drosophila relevance | Model-organism evidence integrated with human genetics (pqac-00000002, pqac-00000003) |
| General PCD epidemiology (extrapolated, not CCDC151-specific) | PCD is rare and underdiagnosed | Approximate prevalence cited as ~1 in 10,000 in iPCD cohort background; other reviews cite 1:15,000 to 30,000 | Large disease-level cohort/review; extrapolated to this subtype with caution (pqac-00000004, pqac-00000006) |
| General PCD laterality (extrapolated, not CCDC151-specific) | Laterality defects occur in about half of all PCD cases overall | Around 50% with laterality defects; about 12% may have heterotaxy or complex isomerism in general PCD literature | Disease-level review/background; extrapolated only (pqac-00000009, pqac-00000006) |
| General PCD lung burden (extrapolated, not CCDC151-specific) | Lung disease begins early and can be progressive | In iPCD, children 6–9 years had mean FEV1 z-score -0.84; review cites average FEV1 decline about 0.8% per year | International cohort and review; not subtype-specific (pqac-00000005, pqac-00000006) |
| Evidence limitation | Natural history, prevalence, prognosis, and treatment-response data specific to ODAD3/CCDC151 are not yet established | No robust 2023–2024 gene-specific cohorts identified; most management is inferred from general PCD practice | Evidence-gap statement based on available literature set (pqac-00000002, pqac-00000004, pqac-00000006) |


*Table: This table summarizes the core disease-specific evidence for ODAD3/CCDC151-related PCD30 and distinguishes it from broader primary ciliary dyskinesia data. It is useful for quickly separating directly observed subtype facts from extrapolated general PCD knowledge.*