Asphyxiating thoracic dystrophy 5: genes and variants
Asphyxiating thoracic dystrophy 5 is linked to 1 analyzed protein (WDR19). 7 DNA variants are known to cause it; 411 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Asphyxiating thoracic dystrophy 3
Genes linked to Asphyxiating thoracic dystrophy 5
WDR19: WD repeat-containing protein 19
Part of the intraflagellar transport A complex, which moves cargo backward through cilia and helps proteins enter the ciliary compartment. By supporting cilium assembly and receptor trafficking, WDR19 contributes to kidney, retinal, skeletal, and reproductive biology.
7 disease-causing and 410 uncertain variants in WDR19 are linked to Asphyxiating thoracic dystrophy 5.
Weakly linked (only a few uncertain records): EPAS1.
Known disease-causing variants in Asphyxiating thoracic dystrophy 5
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| WDR19 G294R | 294 | WD 5 | Disease-causing (★★) |
| WDR19 E1235K | 1235 | Disease-causing (★★) | |
| WDR19 F5S | 5 | Disease-causing (★★) | |
| WDR19 N273D | 273 | WD 5 | Disease-causing (★★) |
| WDR19 G495R | 495 | Disease-causing (★) | |
| WDR19 C1267Y | 1267 | Disease-causing (★) | |
| WDR19 L7P | 7 | Disease-causing |
Same protein, different disease
- Senior-Loken syndrome is also caused by WDR19 variants; they fall mostly in different places as the Asphyxiating thoracic dystrophy 5 variants (8 disease-causing).
- Nephronophthisis is also caused by WDR19 variants; they fall mostly in different places as the Asphyxiating thoracic dystrophy 5 variants (7 disease-causing).
Diseases related to Asphyxiating thoracic dystrophy 5
- Connective tissue disorder, also linked to WDR19
- Senior-Loken syndrome, also linked to WDR19
- Nephronophthisis, also linked to WDR19
- Spermatogenic failure 72, also linked to WDR19
- Cranioectodermal dysplasia, also linked to WDR19
Frequently asked questions
Which genes are linked to Asphyxiating thoracic dystrophy 5?
In CATVariant, Asphyxiating thoracic dystrophy 5 is linked to 1 analyzed protein: WDR19 (WD repeat-containing protein 19).
How many genetic variants are linked to Asphyxiating thoracic dystrophy 5?
449 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 411 are of uncertain significance or have conflicting reports.
Which uncertain variants in Asphyxiating thoracic dystrophy 5 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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