Auriculocondylar syndrome: genes and variants
Auriculocondylar syndrome is linked to 1 analyzed protein (EDN1). 2 DNA variants are known to cause it; 1 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: Auriculocondylar syndrome 3
Genes linked to Auriculocondylar syndrome
EDN1: Endothelin-1
It is processed to endothelin-1, a potent vasoconstrictor that regulates vascular tone, blood pressure, and vascular remodeling. Excess signaling contributes to pulmonary arterial hypertension and other cardiovascular diseases and is targeted by endothelin-receptor antagonists.
2 disease-causing and 1 uncertain variants in EDN1 are linked to Auriculocondylar syndrome.
Known disease-causing variants in Auriculocondylar syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| EDN1 P77H | 77 | Disease-causing | |
| EDN1 K91E | 91 | Disease-causing |
Frequently asked questions
Which genes are linked to Auriculocondylar syndrome?
In CATVariant, Auriculocondylar syndrome is linked to 1 analyzed protein: EDN1 (Endothelin-1).
How many genetic variants are linked to Auriculocondylar syndrome?
5 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in Auriculocondylar syndrome 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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