The purpose of the adrenoleukodystrophy website is to provide general educational information about ALD. We intend to cover as many aspects of ALD as possible. You should not use our website to diagnose or treat ALD. While we provide information, you should always consult your professional health care provider with any specific disease-related questions or problems you may have.
Contributors are responsible for the reliability of unreviewed data published on this website. While as much effort as possible has been made to ensure that the ABCD1 Variant Database is of high quality, the laboratories/investigators that have identified these variants make no warranty, expressed or implied, as to the accuracy of the information or its suitability for any specific purpose. Users should be very cautious for several reasons:
- A phenotype/genotype correlation in ALD does not exist. It is not possible to predict disease course based on a genetic variant; not even within individual families.
- The ‘variant’ may be a technical artefact.
- For many variants of uncertain significance (VUS) experimental proof demonstrating that the variant is not pathogenic – or benign – is lacking.
- Due to the high percentage of unique variants in the ABCD1 gene, pathogenicity of many variants has not been confirmed by independent findings.
Unpublished variants may not be used for publication purposes without prior approval from the editor of the database and the laboratories/investigators that have identified and reported these variants.
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Last modified | 2022-09-16