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An X-linked genetic disease is a disease inherited through a genetic defect on the X chromosome. In human cells, there is a pair of non-matching sex chromosomes, labelled X and Y. Females carry two X chromosomes, whereas males have one X and one Y chromosome. A disease or trait determined by a gene on the X chromosome demonstrates X-linked ...
Phosphate diabetes. Phosphate diabetes is a rare, congenital, hereditary disorder associated with inadequate tubular reabsorption that affects the way the body processes and absorbs phosphate. [ 1] Also named as X-linked dominant hypophosphatemic rickets ( XLH ), [ 2] this disease is caused by a mutation in the X-linked PHEX (phosphate ...
Adrenoleukodystrophy. Other names. X-linked adrenoleukodystrophy, ALD, X-ALD, Siemerling–Creutzfeldt disease, bronze Schilder disease. White matter, with reduced volume and increased signal intensity. The anterior white matter is spared. Features are consistent with X-linked adrenoleukodystrophy. Pronunciation.
The most common X-linked recessive disorders are: [7] Red–green color blindness, also known as daltonism, [8] which affects roughly 7% to 10% of men and 0.49% to 1% of women. Its relative benignity may explain its commonness. Hemophilia A, a blood clotting disorder caused by a mutation of the Factor VIII gene and leading to a deficiency of ...
1 in 100,000 to 150,000 male births [1] Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a rare genetic disorder in which large sugar molecules called glycosaminoglycans (or GAGs or mucopolysaccharides) build up in body tissues. It is a form of lysosomal storage disease. Hunter syndrome is caused by a deficiency of the lysosomal ...
Polygenic. Genetic cause and mechanism of type 2 diabetes is largely unknown. However, single nucleotide polymorphism (SNP) is one of many mechanisms that leads to increased risk for type 2 diabetes. To locate genes and loci that are responsible for the risk of type 2 diabetes, genome wide association studies (GWAS) was utilized to compare the ...
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