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Results 1 - 10 of 320 for Chromosome 17 disorder
  1. Frontotemporal dementia with parkinsonism-17 
    ... the MAPT gene. This gene is located on chromosome 17, which is how the disease got its name.The MAPT gene provides instructions ... Frontotemporal dementia Frontotemporal dementia National ... Boeve BF, Hutton M. Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN). ...
    https://medlineplus.gov/...ntotemporal-dementia-with-parkinsonism-17 - Genetics
  2. Chromosome 17 
    ... small amount of genetic material (a microdeletion) on chromosome 17 can cause Koolen-de Vries syndrome. This disorder is characterized by developmental delays, intellectual disabilities, a ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  3. Smith-Magenis syndrome 
    Smith-Magenis syndrome is a developmental disorder that affects behavior, emotions, and learning processes. The major features of this condition include distinctive ...
    https://medlineplus.gov/genetics/condition/smith-magenis-syndrome - Genetics
  4. Hyperimmunoglobulin E syndrome 
    ... that takes place in the STAT3 gene on chromosome 17. How this gene abnormality causes the symptoms of the disease is not well understood. However, people with the ...
    https://medlineplus.gov/ency/article/001311.htm - Medical Encyclopedia
  5. Yuan-Harel-Lupski syndrome 
    ... duplicated region contribute to other features of the disorder, such as kidney abnormalities. PMP22 RAI1 chromosome 17 YUHAL syndrome follows an autosomal dominant pattern of ...
    https://medlineplus.gov/.../condition/yuan-harel-lupski-syndrome - Genetics
  6. Miller-Dieker syndrome 
    ... missing genetic material from the short arm of chromosome 17, which results in the health problems that are seen in people with this disorder. Lissencephaly due to 17p13.3 deletion MDLS MDS ...
    https://medlineplus.gov/genetics/condition/miller-dieker-syndrome - Genetics
  7. PMP22 gene 
    ... caused by a duplication of genetic material on chromosome 17 is the most common genetic change that causes Charcot-Marie-Tooth disease type 1A (CMT1A). The extra gene leads to ...
    https://medlineplus.gov/genetics/gene/pmp22 - Genetics
  8. Potocki-Lupski syndrome 
    ... likely also contribute to the features of this disorder; the role of these genes is under study. RAI1 chromosome 17 This condition has an autosomal dominant pattern of ...
    https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome - Genetics
  9. RNF213 gene 
    ... changes may be necessary for development of moyamoya disease. More About This Health Condition ALK lymphoma oligomerization partner on chromosome 17 ALO17 C17orf27 E3 ubiquitin-protein ligase RNF213 KIAA1554 ...
    https://medlineplus.gov/genetics/gene/rnf213 - Genetics
  10. Charcot-Marie-Tooth disease 
    ... from a small duplication of genetic material on chromosome 17. Another 10 to 12 percent of individuals with CMT1 have mutations in the MPZ gene. MPZ gene mutations are also occasionally identified in people with other forms of the disorder. The most common cause of CMT2 is mutations ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
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