Matches in DBpedia 2016-04 for { ?s ?p "Menkes disease (MNK), also known as Menkes syndrome, is a X-linked recessive disorder that affects copper levels in the body, leading to copper deficiency. The onset of Menkes disease typically begins during infancy, affecting about 1 in 100,000 to 250,000 newborns. Infants with MNK syndrome often do not live past the age of 3. It is more common in males than females, because it only takes one copy of the X-linked recessive gene to be expressed for a male to develop the disease. In order for females to develop the disorder they would need to express two copies of the gene, one on each X chromosome to develop the disorder. MNK is characterized by kinky hair, growth failure, and deterioration of the nervous system. It is caused by mutations in the copper transport gene, ATP7A, which is responsible for making a protein that is important for regulating the copper levels in the body.The disorder was originally described by John Hans Menkes (1928–2008) et al. in 1962.Alternative names: Copper Transport Disease Steely Hair Disease Kinky Hair Disease Menkes Kinky Hair Syndrome↑ ↑ ↑ ↑ ↑ ↑ ↑"@en }
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- Menkes_disease abstract "Menkes disease (MNK), also known as Menkes syndrome, is a X-linked recessive disorder that affects copper levels in the body, leading to copper deficiency. The onset of Menkes disease typically begins during infancy, affecting about 1 in 100,000 to 250,000 newborns. Infants with MNK syndrome often do not live past the age of 3. It is more common in males than females, because it only takes one copy of the X-linked recessive gene to be expressed for a male to develop the disease. In order for females to develop the disorder they would need to express two copies of the gene, one on each X chromosome to develop the disorder. MNK is characterized by kinky hair, growth failure, and deterioration of the nervous system. It is caused by mutations in the copper transport gene, ATP7A, which is responsible for making a protein that is important for regulating the copper levels in the body.The disorder was originally described by John Hans Menkes (1928–2008) et al. in 1962.Alternative names: Copper Transport Disease Steely Hair Disease Kinky Hair Disease Menkes Kinky Hair Syndrome↑ ↑ ↑ ↑ ↑ ↑ ↑".
- Q639203 abstract "Menkes disease (MNK), also known as Menkes syndrome, is a X-linked recessive disorder that affects copper levels in the body, leading to copper deficiency. The onset of Menkes disease typically begins during infancy, affecting about 1 in 100,000 to 250,000 newborns. Infants with MNK syndrome often do not live past the age of 3. It is more common in males than females, because it only takes one copy of the X-linked recessive gene to be expressed for a male to develop the disease. In order for females to develop the disorder they would need to express two copies of the gene, one on each X chromosome to develop the disorder. MNK is characterized by kinky hair, growth failure, and deterioration of the nervous system. It is caused by mutations in the copper transport gene, ATP7A, which is responsible for making a protein that is important for regulating the copper levels in the body.The disorder was originally described by John Hans Menkes (1928–2008) et al. in 1962.Alternative names: Copper Transport Disease Steely Hair Disease Kinky Hair Disease Menkes Kinky Hair Syndrome↑ ↑ ↑ ↑ ↑ ↑ ↑".