European Journal of Human Genetics - Clinical utility gene card for: Adrenoleukodystrophy

Clinical Utility Gene Card
European Journal of Human Genetics advance online publication 9 November 2011; doi: 10.1038/ejhg.2011.193
Clinical utility gene card for: AdrenoleukodystrophyErnst Krasemann1, Stephan Kemp2 and Andreas Gal3

1MVZ Fenner & Krasemann, Hamburg, Germany
2Amsterdam Center for Metabolism, Academic Medical Center, Amsterdam, The Netherlands
3Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Correspondence: Professor A Gal, Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany. Tel: +49 40 7410 52120; Fax: +49 40 7410 55138; E-mail: gal@uke.de

. DISEASE CHARACTERISTICS
1.1 Name of the disease (synonyms)
Adrenoleukodystrophy (ALD), adrenomyeloneuropathy (AMN), Addison disease and cerebral sclerosis, melanodermic leukodystrophy.

1.2 OMIM# of the disease
300100 (ALD).

1.3 Name of the analysed genes or DNA/chromosome segments
ABCD1.

1.4 OMIM# of the gene(s)
300371 (ABCD1).

full-text:
European Journal of Human Genetics - Clinical utility gene card for: Adrenoleukodystrophy