|
MCID: KLN001
|
Klinefelter's Syndrome malady |
|
Sources: 30NIH Rare Diseases, 23MedlinePlus, 17Genetics Home Reference, 44Wikipedia, 33OMIM, 22MalaCards See all sources Export this MalaCard |
MedlinePlus: Klinefelter's syndrome is a condition that occurs in men who have an extra x chromosome
in most of their cells. the syndrome can affect different stages of physical, language and
social development. the most common symptom is infertility. because they often don't make as much of the male hormone testosterone as other boys, teenagers with klinefelter's syndrome
may have less facial and body hair and may be less muscular than other boys. they may have
trouble using language to express themselves. they may be shy and have trouble fitting
in.
it is important to start treatment as early as possible. with treatment, most boys grow
up to have normal sex lives, successful careers and normal social relationships.
treatments include
educational services
physical, speech and occupational therapy
medical treatments including testosterone replacement
nih: national institute of child health and human development23
MalaCards: Klinefelter's Syndrome, also known as hypogonadotropic hypogonadism, is related to adrenal hypoplasia and isolated gonadotropin-releasing hormone (gnrh) deficiency. An important gene associated with Klinefelter's Syndrome is IGFL3 (IGF-like family member 3), and among its related pathways are Development_Leptin signaling via JAK/STAT and MAPK cascades and Bacterial infections in CF airways. The drugs estropipate and polyestradiol and the compounds goserelin and nafarelin have been mentioned in the context of this disorder. Affiliated tissues include breast, prostate and t cells, and related mouse phenotypes are respiratory system and hematopoietic system. NIH Rare Diseases: Klinefelter syndrome is a chromosomal disorder that occurs in men and is typically caused by the presence of an additional X chromosome. Men with Klinefelter syndrome have two copies of the X chromosome, instead of the usual one copy. The extra chromosome X may affect physical, social, and language development. Symptoms differ from person to person. Treatment may include testosterone replacement therapy.30 Genetics Home Reference: Klinefelter syndrome is a chromosomal condition that affects male sexual development. Males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development before birth and during puberty. A shortage of testosterone during puberty can lead to breast enlargement (gynecomastia), reduced facial and body hair, and an inability to father children (infertility). Older children and adults with Klinefelter syndrome tend to be taller than other males their age. Compared with other men, adult males with Klinefelter syndrome have an increased risk of developing breast cancer and a chronic inflammatory disease called systemic lupus erythematosus. Their chance of developing these disorders is similar to that of normal adult females.17 Wikipedia: Klinefelter syndrome or Klinefelter\'s syndrome, also 47,XXY or XXY syndrome, is a genetic disorder in...44 more... OMIM: 146110 |
|
Sources: 6Disease Ontology, 30NIH Rare Diseases, 17Genetics Home Reference, 23MedlinePlus, 44Wikipedia, 7diseasecard, 33OMIM, 43UMLS, 8DISEASES, 32Novoseek , 24MeSH, 40SNOMED-CT, 27NCIt, 19ICD9CM See all sources |
|
Sources: 33OMIM See all sources |
Clinical features from OMIM: 146110
|
|
Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for klinefelter's syndrome Drug clinical trials:Search ClinicalTrials for klinefelter's syndrome Search NIH Clinical Center for klinefelter's syndrome Search CenterWatch for klinefelter's syndrome Inferred drug relations via UMLS/NDF-RT:43 28 black cohosh, black cohosh extract, bromocriptine, bromocriptine mesylate, chlorotrianisene, estradiol, estradiol 17-beta, estradiol acetate, estradiol cypionate, estradiol pwdr [va product], estradiol valerate, estrogens, estrogens,conjugated, estrogens,conjugated synthetic a, estrogens,conjugated synthetic b, estrogens,esterified, estrone, estrone sodium sulfate, estropipate, ethinyl estradiol, ethynodiol diacetate, fluoxymesterone, methyltestosterone, methyltestosterone pwdr [va product], norethindrone, norethindrone acetate, polyestradiol, polyestradiol phosphate, testosterone, testosterone cypionate, testosterone enanthate, testosterone propionate, testosterone propionate pwdr [va product], testosterone pwdr [va product] |
|
|
|
Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to klinefelter's syndrome:22Breast, Prostate, T cells, B cells
|
|
Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to klinefelter's syndrome:25 (show all 23)
|
|
Sources: 35PubMed See all sources |
Articles related to klinefelter's syndrome:(show all 44)
|
|
Sources: 1BioGPS See all sources |
  |
|
Sources: 41Thomson Reuters, 10EMD Millipore, 38Reactome, 20KEGG, 36QIAGEN, 37R&D Systems See all sources |
Pathways related to klinefelter's syndrome according to GeneDecks:(show all 21)
|
|
Sources: 32Novoseek , 9DrugBank, 42Tocris Bioscience, 18HMDB, 34PharmGKB See all sources |
Compounds related to klinefelter's syndrome according to GeneDecks:(show top 50) (show all 235)
|
|
Sources: 12Gene Ontology See all sources |
Cellular components related to klinefelter's syndrome according to GeneDecks:
Biological processes related to klinefelter's syndrome according to GeneDecks:(show all 19)
Molecular functions related to klinefelter's syndrome according to GeneDecks:
|