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Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin. [1] Fabry disease is one of a group of conditions known as lysosomal storage diseases .
There are over 6,000 known genetic disorders in humans. ... Fabry disease: GLA (Xq22.1) P ... Genetic and Rare Diseases Information Center ...
Fabry disease is a rare inherited disease linked to the X chromosome and is estimated to affect roughly 1 in 117,000 people in the general population. ... diabetes solutions, human vaccines ...
Lysosomal storage diseases (LSDs; / ˌ l aɪ s ə ˈ s oʊ m əl /) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. [ 1 ] [ 2 ] Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling.
This disease may have late onset and only affect the heart or kidneys. [8] Fabry disease is an X-linked disease, affecting 1 in 40,000 males. However, unlike other X-linked diseases, this condition also creates significant medical problems for females carrying only 1 copy of the defective GLA gene.
Robert J. Desnick is an American human geneticist whose basic and translational research accomplishments include significant discoveries in genomics, pharmacogenetics, gene therapy, personalized medicine, and the treatment of genetic diseases.
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Autosomal dominant A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]
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