Fabry Disease

Alternative Names

  • Angiokeratoma Corporis Diffusum
  • Anderson-Fabry Disease
  • Hereditary Dystopic Lipidosis
  • Alpha-Galactosidase A Deficiency
  • GLA Deficiency
  • Ceramide Trihexosidase Deficiency
  • Fabry Disease, Cardiac Variant

Associated Genes

Galactosidase, Alpha
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

301500

Mode of Inheritance

X-linked

Gene Map Locus

Xq22

Description

Fabry disease is a rare, X-linked lysosomal storage disorder, caused by an inborn deficiency of alpha-galactosidase A. The resulting inability to catabolize glycosphingolipids causes progressive accumulation of globotriasylceramide (Gb3). The resulting symptoms usually appear during childhood and adolescence, followed by disease progression and premature death. The disease manifests primarily in affected homizygous males and to some extent in heterozygous (carrier) females with a mild or severe degree because of random X-chromosomal inactivation.

Molecular Genetics

 

 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
301500.1United Arab EmiratesUnknownNM_000169.3:c.1277_1278delHemizygousX-linkedAl-Jasmi et al. 2013
301500.2United Arab EmiratesMaleNoNo Elevated circulating creatinine concentr...NM_000169.3:c.1277_1278delHemizygousX-linkedAl-Salam et al. 2012

Other Reports

Saudi Arabia

Moammar et al. (2010) reviewed all patients diagnosed with inborn errors of metabolism (IEM) between the periods of 1983 to 2008 at Saudi Aramco medical facilities in the Eastern province of Saudi Arabia. During the study period, 165530 Saudi infants were born, of whom a total of 248 newborns were diagnosed with 55 IEM. Nine cases were found to have Fabry disease with an estimated incidence of 5 per 100,000 live births. 

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