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Results 1 - 10 of 22 for menkes
  1. Menkes syndrome 
    Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, ... seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy ...
    https://medlineplus.gov/genetics/condition/menkes-syndrome - Genetics
  2. Menkes disease 
    Menkes disease is a genetic disorder in which the body has a problem absorbing and distributing copper ... Menkes disease is caused by a defect in the ATP7A gene. The defect makes it hard for ...
    https://medlineplus.gov/ency/article/001160.htm - Medical Encyclopedia
  3. Menkes Disease From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Menkes ...
    https://www.ninds.nih.gov/.../disorders/menkes-disease - External Health Links
  4. ATP7A gene 
    ... laxa, which is considered a mild form of Menkes syndrome (described below). Occipital horn syndrome is characterized ... 150 mutations in the ATP7A gene that cause Menkes syndrome. Many of these mutations delete part of ...
    https://medlineplus.gov/genetics/gene/atp7a - Genetics
  5. Ceruloplasmin Test: MedlinePlus Medical Test 
    ... Many diseases can cause malabsorption, including celiac disease. Menkes syndrome, also called Menkes disease , a rare, incurable genetic disease that affects ...
    https://medlineplus.gov/lab-tests/ceruloplasmin-test - Medical Tests
  6. CREBBP gene 
    ... the CREBBP gene can cause a condition called Menke-Hennekam syndrome. While this condition shares some features ... as intellectual disability and growth delays, individuals with Menke-Hennekam syndrome do not have the facial features ...
    https://medlineplus.gov/genetics/gene/crebbp - Genetics
  7. EP300 gene 
    ... a very rare cause of a condition called Menke-Hennekam syndrome. While this condition shares some features ... as intellectual disability and growth delays, individuals with Menke-Hennekam syndrome do not have the facial features ...
    https://medlineplus.gov/genetics/gene/ep300 - Genetics
  8. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
    https://medlineplus.gov/geneticbraindisorders.html - Health Topics
  9. Cutis laxa 
    ... the disorder is considered a mild type of Menkes syndrome, which is a condition that affects copper ... PubMed Kaler SG. Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol. ...
    https://medlineplus.gov/genetics/condition/cutis-laxa - Genetics
  10. Trichorrhexis nodosa 
    ... ammonia in the body (argininosuccinic aciduria) Iron deficiency Menkes syndrome ( Menkes kinky hair syndrome ) Ectodermal dysplasia (a group of ...
    https://medlineplus.gov/ency/article/001449.htm - Medical Encyclopedia
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