Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein...
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ceruloplasmin is also found in Menkes disease and aceruloplasminemia, which are related to, but much rarer than Wilson's disease. The combination of neurological...
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Copper in biology (section Menkes disease)
[citation needed] The diseases arise from defects in two similar copper pumps, the Menkes and the Wilson Cu-ATPases. The Menkes ATPase is expressed in...
111 KB (12,727 words) - 19:39, 13 November 2024
Copper toxicity (section Menke's disease)
commonly it is the result of the genetic condition Wilson's disease and Menke's disease, which are associated with mismanaged transport and storage of...
29 KB (3,061 words) - 06:30, 25 November 2024
Copper deficiency (category Animal diseases)
unsteady gait and mild ataxia. Menkes disease is a congenital disease that is a cause of copper deficiency. Menkes disease is a hereditary condition caused...
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165 KDa in human hepatoma cell line, and which is 57% homologous to Menkes disease-associated protein ATP7A. ATP7B consists of several domains: Phosphatase...
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chromosomes, not just one. The disorder is considered a milder variant of Menkes disease. It is characterized by a deficiency in biliary copper excretion that...
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Vincent Meigs Ménétrier's disease – Pierre Eugène Ménétrier Ménière's disease – Prosper Ménière Menkes disease – John Hans Menkes Middleton syndrome – Stephen...
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Camakaris J (2002). "Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease". J Bioenerg Biomembr...
23 KB (2,867 words) - 06:01, 27 May 2024
Menkes is a surname. Notable people with the surname include: John Menkes (1928– 2008), Austrian-American pediatric neurologist and author of fictional...
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Bibudhendra Sarkar (section The discovery of copper-histidine in human blood and invention of Menkes disease treatment)
copper-histidine in human blood, leading to the first treatments for Menkes disease. He served as head of the Division of Biochemistry Research at the Sick...
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indicate the following: Wilson disease (a rare [UK incidence 2/100,000] copper storage disease). Menkes disease (Menkes kinky hair syndrome) (rare – UK...
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cysts Megalencephaly Melkersson–Rosenthal syndrome Menieres disease Meningitis Menkes disease Metachromatic leukodystrophy Microcephaly Micropsia Migraine...
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aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets Menkes disease; sparse and coarse hair, growth failure, and deterioration of the nervous...
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Sex linkage (redirect from X-linked disease)
Fabry disease Glucose-6-phosphate dehydrogenase deficiency Haemophilia A and B Hunter syndrome Inherited nephrogenic diabetes insipidus Menkes disease (kinky...
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eyes and the edges of the eyelids. Menkes kinky hair syndrome is an uncommon X-linked recessive copper metabolism disease. Monilethrix is an uncommon genetic...
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Robert (June 2009), "John Menkes (1928-2008)" (PDF), World Neurology, vol. 30, no. 3, p. 14[permanent dead link] Menkes J H; Hurst P L; Craig J M (May...
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Pili torti (category Hair diseases)
inherited. Many different genetic syndromes such as Björnstad syndrome and Menkes disease can cause pili torti. Different ectodermal dysplasias like Rapp-Hodgkin...
48 KB (4,439 words) - 14:50, 2 October 2024
Split ends can be a symptom of copper transport disorders such as Menkes disease and occipital horn syndrome. Rubbing the hair up towards the scalp does...
2 KB (207 words) - 14:48, 7 November 2023
Elastic fiber (section Defects and disease)
leads most often to emphysema and liver disease in affected individuals. Buschke–Ollendorff syndrome, Menkes disease, pseudoxanthoma elasticum, and Marfan's...
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of the autoimmune thyroid disorder Graves' disease.[citation needed] Other causes include Menkes disease and hypervitaminosis A. It can take about three...
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List of skin conditions (redirect from Sweat gland disease)
Heller, solenonychia) Mees' lines Melanonychia Menkes kinky hair syndrome (kinky hair disease, Menkes disease) Monilethrix (beaded hair) Muehrcke's nails...
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List of genetic disorders (redirect from List of genetic diseases)
type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the...
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where monozygotic female twins had extreme variance in expression of Menkes disease (an X-linked disorder) resulting in the death of one twin while the...
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syndrome Memory distrust syndrome Mendelson's syndrome Ménière's disease Menkes disease MERRF syndrome Metabolic syndrome Michelin tire baby syndrome Michels...
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Ehlers–Danlos syndrome (redirect from Eric the Actor's Disease)
Loeys–Dietz syndrome also has symptoms that overlap with EDS. In the past, Menkes disease, a copper metabolism disorder, was thought to be a form of EDS. People...
111 KB (11,606 words) - 12:17, 18 November 2024
McCune, first described McCune–Albright syndrome John Menkes, first identified Menkes disease Joanna Pearson, psychiatrist and writer Monica E. Peek...
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genetics can answer questions about human nature, can help understand diseases and the development of effective treatment and help us to understand the...
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were Menkes disease and Wilson's disease. Menkes and Wilson's disease are both caused by mutations in copper ATPases that are distinct for each disease. Both...
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Mitochondrial disorders Peroxisomal disorder Glucose transporter defect Menkes disease Congenital disorders of amino acid metabolism Organic acidemia Syndromes...
46 KB (4,286 words) - 23:45, 14 November 2024