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- Q639203 subject Q6853484.
- Q639203 subject Q7824736.
- Q639203 subject Q8408892.
- Q639203 subject Q8543556.
- 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↑ ↑ ↑ ↑ ↑ ↑ ↑".
- Q639203 icd10 "E83.0".
- Q639203 icd9 "759.89".
- Q639203 icdo "?".
- Q639203 meshId "D007706".
- Q639203 omim "309400".
- Q639203 thumbnail PBB_Protein_ATP7A_image.jpg?width=300.
- Q639203 wikiPageExternalLink br.fcgi?book=gene&part=menkes.
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- Q639203 icd "759.89".
- Q639203 icd "E83.0".
- Q639203 icdo "?".
- Q639203 meshid "D007706".
- Q639203 name "Menkes disease".
- Q639203 omim "309400".
- Q639203 type Disease.
- Q639203 type Thing.
- Q639203 type Q12136.
- Q639203 comment "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.".
- Q639203 label "Menkes disease".
- Q639203 depiction PBB_Protein_ATP7A_image.jpg.
- Q639203 name "Menkes disease".