Cranioectodermal dysplasia: genes and variants
Cranioectodermal dysplasia is linked to 1 analyzed protein (WDR19). 1 DNA variants are known to cause it; 84 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: Cranioectodermal dysplasia 4
Genes linked to Cranioectodermal dysplasia
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.
1 disease-causing and 84 uncertain variants in WDR19 are linked to Cranioectodermal dysplasia.
Known disease-causing variants in Cranioectodermal dysplasia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| WDR19 I478M | 478 | Disease-causing |
Same protein, different disease
- Senior-Loken syndrome is also caused by WDR19 variants; they fall mostly in different places as the Cranioectodermal dysplasia variants (8 disease-causing).
- Asphyxiating thoracic dystrophy 5 is also caused by WDR19 variants; they fall mostly in different places as the Cranioectodermal dysplasia variants (7 disease-causing).
- Nephronophthisis is also caused by WDR19 variants; they fall mostly in different places as the Cranioectodermal dysplasia variants (7 disease-causing).
- Spermatogenic failure 72 is also caused by WDR19 variants; they fall mostly in different places as the Cranioectodermal dysplasia variants (3 disease-causing).
Diseases related to Cranioectodermal dysplasia
- Connective tissue disorder, also linked to WDR19
- Senior-Loken syndrome, also linked to WDR19
- Nephronophthisis, also linked to WDR19
- Asphyxiating thoracic dystrophy 5, also linked to WDR19
- Spermatogenic failure 72, also linked to WDR19
Frequently asked questions
Which genes are linked to Cranioectodermal dysplasia?
In CATVariant, Cranioectodermal dysplasia is linked to 1 analyzed protein: WDR19 (WD repeat-containing protein 19).
How many genetic variants are linked to Cranioectodermal dysplasia?
95 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 84 are of uncertain significance or have conflicting reports.
Which uncertain variants in Cranioectodermal dysplasia 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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