EHHADH and D-Bifunctional Protein Deficiency: Association Evidence

Gene-Disorder Association · Article

Gene

EHHADH

Enoyl-CoA Hydratase And 3-Hydroxyacyl CoA Dehydrogenase

Disorder

First reported 1995

Supporting publications 7

Key publication · gene–disorder Peroxisomal bifunctional enzyme complex deficiency with associated retinal findings.Journal of pediatric ophthalmology and strabismus · 1995

Key publication · disorder Pharmacological studies on supersensitization. IX. Non-specific supersensitivity of vas deferens of guinea pig induced by tripelennamine, N,N-dimethyl-N',N'-dibenzylethylenediamine and N,N-dibenzyl-N',N'-dimethyl-1,2-propanediamine.Journal of pharmacobio-dynamics · 1982

Manually curated

Association Review

In brief

The association between EHHADH (Enoyl-CoA Hydratase And 3-Hydroxyacyl CoA Dehydrogenase) and D-Bifunctional Protein Deficiency is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1

Clinical variants 0

Symptoms 109

Compounds 0

Trials 0

Publications 7