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Results 1 - 10 of 82 for Chromosome 17 disorder
  1. 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
  2. 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
  3. HNF1B gene 
    ... impaired thinking (cognitive) ability, and behavioral or psychiatric disorders. The health problems associated with 17q12 deletion syndrome vary widely, even among affected members of the same family.The part of chromosome 17 that is deleted is on the long (q) ...
    https://medlineplus.gov/genetics/gene/hnf1b - Genetics
  4. ITM2B gene 
    ... J, Frangione B, Ghiso J. Complement activation in chromosome 13 dementias. Similarities with Alzheimer's disease. J Biol Chem. 2002 Dec 20;277(51):49782-90. doi: 10.1074/jbc.M206448200. Epub 2002 Oct 17. Citation on PubMed Vidal R, Frangione B, Rostagno ...
    https://medlineplus.gov/genetics/gene/itm2b - Genetics
  5. LHX1 gene 
    ... from the deletion of a small piece of chromosome 17 in each cell. Signs and symptoms ... disorders. Some females with this chromosomal change have Mayer- ...
    https://medlineplus.gov/genetics/gene/lhx1 - Genetics
  6. RAI1 gene 
    ... development, mild to moderate intellectual disability, autism spectrum ... the short (p) arm of chromosome 17 at position p11.2. In about two-thirds ...
    https://medlineplus.gov/genetics/gene/rai1 - Genetics
  7. ISCU gene 
    ... M. Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and ... cluster biogenesis and human disease. Trends Genet. 2008 Aug;24(8):398-407. ...
    https://medlineplus.gov/genetics/gene/iscu - Genetics
  8. MIR17HG gene 
    ... 3 microdeletions, remove (delete) a small region of chromosome 13 that ... the amount of miR-17~92 cluster miRNAs available to control the activity ...
    https://medlineplus.gov/genetics/gene/mir17hg - Genetics
  9. COL1A1 gene 
    ... with a rearrangement (translocation) of genetic material between chromosomes 17 and 22. This translocation, written as t(17;22), fuses part of the COL1A1 gene on chromosome 17 with part of a gene on chromosome 22 ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
  10. YWHAE gene 
    ... the end of the short (p) arm of chromosome 17 causes Miller-Dieker syndrome. This region contains numerous ... Other deleted genes in the same region of chromosome 17 likely contribute to the other features of Miller- ...
    https://medlineplus.gov/genetics/gene/ywhae - Genetics
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