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Results 1 - 10 of 18 for menkes syndrome
  1. Menkes syndrome 
    Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky ... seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and ...
    https://medlineplus.gov/genetics/condition/menkes-syndrome - Genetics
  2. Menkes disease 
    ... and blood vessels, and interfere with nerve function. Menkes syndrome is usually inherited, which means it runs in ... More information and support for people with Menkes syndrome and their families can be found at: ... NIH Genetic and Rare Diseases ...
    https://medlineplus.gov/ency/article/001160.htm - Medical Encyclopedia
  3. ATP7A gene 
    ... laxa, which is considered a mild form of Menkes syndrome (described below). Occipital horn syndrome is characterized by ... 150 mutations in the ATP7A gene that cause Menkes syndrome. Many of these mutations delete part of the ...
    https://medlineplus.gov/genetics/gene/atp7a - Genetics
  4. Ceruloplasmin Test: MedlinePlus Medical Test 
    ... Many diseases can cause malabsorption, including celiac disease. Menkes syndrome, also called Menkes disease , a rare, incurable genetic ... a ceruloplasmin test if they have symptoms of Menkes syndrome. Symptoms usually show up when babies are about ...
    https://medlineplus.gov/lab-tests/ceruloplasmin-test - Medical Tests
  5. Trichorrhexis nodosa 
    ... ammonia in the body (argininosuccinic aciduria) Iron deficiency Menkes syndrome ( Menkes kinky hair syndrome ) Ectodermal dysplasia (a group ...
    https://medlineplus.gov/ency/article/001449.htm - Medical Encyclopedia
  6. CREBBP gene 
    ... the CREBBP gene can cause a condition called Menke-Hennekam syndrome. While this condition shares some features with Rubinstein- ... as intellectual disability and growth delays, individuals with Menke-Hennekam syndrome do not have the facial features and thumb ...
    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 with Rubinstein- ... as intellectual disability and growth delays, individuals with Menke-Hennekam syndrome do not have the facial features and thumb ...
    https://medlineplus.gov/genetics/gene/ep300 - Genetics
  8. Cutis laxa 
    ... the disorder is considered a mild type of Menkes syndrome, which is a condition that affects copper levels ... PubMed Kaler SG. Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol. 1998 Jan-Feb;1(1): ...
    https://medlineplus.gov/genetics/condition/cutis-laxa - Genetics
  9. 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
  10. Ceruloplasmin blood test 
    ... absorb copper, but are unable to release it ( Menkes syndrome ) Group of disorders that damage the kidneys ( nephrotic ...
    https://medlineplus.gov/ency/article/003662.htm - Medical Encyclopedia
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