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Results 1 - 5 of 5 for Hypermanganesemia with dystonia 1
  1. Hypermanganesemia with dystonia 
    ... certain specific features.In HMDPC (also known as hypermanganesemia with dystonia 1), manganese accumulates in the blood, brain, and liver. ... hypermanganesemia syndrome National Organization for Rare Disorders (NORD) ... PubMed Mukhopadhyay ...
    https://medlineplus.gov/.../hypermanganesemia-with-dystonia - Genetics
  2. SLC30A10 gene 
    ... dystonia, polycythemia, and cirrhosis (HMDPC, also known as hypermanganesemia with dystonia 1). This inherited disorder is characterized by high levels ...
    https://medlineplus.gov/genetics/gene/slc30a10 - Genetics
  3. How are genetic conditions and genes named?: MedlinePlus Genetics 
    ... defect that causes the condition (for example, alpha-1 antitrypsin ... polycythemia vera , and cryptogenic cirrhosis ); The parts of ...
    https://medlineplus.gov/.../mutationsanddisorders/naming - Genetics
  4. SLC39A14 gene 
    ... SLC39A14 gene mutations have been found to cause hypermanganesemia with dystonia 2, a condition that begins in early childhood ... levels of manganese in the blood and brain (hypermanganesemia), involuntary tensing of the muscles (dystonia), and other movement problems. These mutations impair the ...
    https://medlineplus.gov/genetics/gene/slc39a14 - Genetics
  5. Movement Disorders (National Library of Medicine)  
    Movement disorders are neurologic conditions that cause problems with movement, such as: Increased movement that can be voluntary (intentional) or involuntary ( ...
    https://medlineplus.gov/movementdisorders.html - Health Topics