The X-ALD database was initiated July 1999 by Hugo W. Moser, M.D. and Stephan Kemp, Ph.D. The primary aims of the database are: 1. Catalogue and facilitate the analysis of X-ALD mutations; 2. Provide background information on X-ALD; 3. Provide links to X-ALD patient organizations, and 4. Help with contacting and finding (local) X-ALD health care professionals.
The purpose of the X-linked adrenoleukodystrophy database is to provide general educational information about X-ALD. We intend to cover as many aspects of X-ALD as possible. You should not use our website to diagnose or treat X-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.
X-linked adrenoleukodystrophy (X-ALD) is the most frequent inherited disorder of the central nervous system white matter with a minimum incidence of 1 in 17.000 newborns. It is a progressive, systemic metabolic disease that affects myelin, spinal cord, peripheral nerves, adrenal cortex and testis. The disease is caused by mutations in the ABCD1 gene.
Contributors are responsible for the reliability of unreviewed data published in this database. While as much effort as possible has been made to ensure that this database is of high quality, the Kennedy Krieger Institute and the Academic Medical Center 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 X-ALD does not exist.
* The 'mutation' may be a technical artifact.
* Due to the high percentage of unique mutations in X-ALD, many of the mutations have not been confirmed by independent research groups.
The X-ALD database is a collaboration between the Peroxisomal Diseases Laboratory at the Kennedy Krieger Institute, Baltimore MD, USA and the Laboratory Genetic Metabolic Diseases at the Academic Medical Center / Emma Children's Hospital, Amsterdam, the Netherlands.
Resource Type: Resource
Version: Latest Version
genetic, abcd1 gene, adrenal cortex, testis, adrenoleukodystrophy, central nervous system, disease, genotype, inherited, medical, mutation, myelin, x-ald, x-linked, spinal cord, peripheral nerves, metabolic disease
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Additional Resource Types
disease-related portal, data set, database
Resource PubMed IDs
PMID: 20166112, PMID: 20661612, PMID: 21966424, PMID: 22253809, PMID: 22280810, PMID: 22447153, PMID: 22479560, PMID: 22889154, PMID: 22911730, PMID: 24316281, PMID: 24719134, PMID: 24954351, PMID: 25118695, PMID: 25324868
Created 4 years ago by Anonymous