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MCID: TRN020
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Turner Syndrome malady |
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Sources: 30NIH Rare Diseases, 23MedlinePlus, 17Genetics Home Reference, 44Wikipedia, 22MalaCards See all sources Export this MalaCard |
MedlinePlus: Turner syndrome is a genetic disorder that affects a girl's development. the cause is a missing or incomplete x chromosome. girls who have it are short, and their ovaries don't work properly. most are infertile. they are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis and thyroid problems.
other physical features typical of turner syndrome are
short, "webbed" neck with folds of skin from tops of shoulders to sides of neck
low hairline in the back
low-set ears
swollen hands and feet
there is no cure for turner syndrome, but there are some treatments for the symptoms. growth hormone often helps girls reach heights that are close to average. hormone replacement can stimulate sexual development. assisted reproduction techniques can help some women with turner syndrome get pregnant.
nih: national institute of child health and human development23
MalaCards: Turner Syndrome, also known as bonnevie-ullrich syndrome, is related to swyer syndrome and noonan syndrome. An important gene associated with Turner Syndrome is RPS4Y1 (ribosomal protein S4, Y-linked 1), and among its related pathways are Tyrosine metabolism p.1 (dopamine) and Tyrosine metabolism p.1 (dopamine). The compounds c-peptide and 25-hydroxyvitamin d have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and liver, and related mouse phenotypes are hematopoietic system and endocrine/exocrine gland. NIH Rare Diseases: Turner syndrome is a chromosomal disorder that usually affects development in females. Symptoms differ among individuals, but may include shortened stature, infertility, extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects, and kidney problems. Females without Turner syndrome have 2 full X chromosomes in each of their cells. An individual with Turner syndrome is missing all or part of one X chromosome. Although it is genetic, it is typically not inherited. Treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. Assisted reproduction techniques can help some women with Turner syndrome become pregnant.30 Genetics Home Reference: Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood.17 Wikipedia: Turner syndrome or Ullrich–Turner syndrome (also known as \"Gonadal dysgenesis\"), 45,X, encompasses...44 more... |
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Sources: 43UMLS, 6Disease Ontology, 44Wikipedia, 30NIH Rare Diseases, 17Genetics Home Reference, 23MedlinePlus, 8DISEASES, 32Novoseek , 24MeSH, 40SNOMED-CT, 27NCIt See all sources |
Aliases & Descriptions:
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for turner syndrome Drug clinical trials:Search ClinicalTrials for turner syndrome Search NIH Clinical Center for turner syndrome Search CenterWatch for turner syndrome |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to turner syndrome:22Heart, Kidney, Liver, Thyroid, Skin, Ovary, Monocytes, T cells, Endothelial, Fetal liver, Fetal thyroid, Pituitary
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to turner syndrome:25 (show all 24)
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Sources: 35PubMed See all sources |
Articles related to turner syndrome:(show top 50) (show all 149)
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Sources: 1BioGPS See all sources |
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Sources: 41Thomson Reuters, 10EMD Millipore, 20KEGG, 36QIAGEN, 38Reactome See all sources |
Pathways related to turner syndrome according to GeneDecks:(show all 27)
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Sources: 32Novoseek , 9DrugBank, 18HMDB, 42Tocris Bioscience, 34PharmGKB See all sources |
Compounds related to turner syndrome according to GeneDecks:(show top 50) (show all 361)
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Sources: 12Gene Ontology See all sources |
Cellular components related to turner syndrome according to GeneDecks:
Biological processes related to turner syndrome according to GeneDecks:(show all 22)
Molecular functions related to turner syndrome according to GeneDecks:
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