About: Fragile X-associated primary ovarian insufficiency

An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Fragile X-associated Primary Ovarian Insufficiency (FXPOI) is the most common genetic cause of premature ovarian failure in women with a normal karyotype 46, XX. The expansion of a CGG repeat in the 5' untranslated region of the FMR1 gene from the normal range of 5-45 repeats to the premutation range of 55-199 CGGs leads to risk of FXPOI for ovary-bearing individuals. About 1:150-1:200 women in the US population carry a premutation. Women who carry an FMR1 premutation have a roughly 20% risk of being diagnosed with FXPOI, compared to 1% for the general population, and an 8-15% risk of developing the neurogenerative tremor/ataxia disorder (FXTAS). FMR1 premutation women are also at increased risk of having a child with a CGG repeat that is expanded to >200 repeats (a full mutation). Individ

Property Value
dbo:abstract
  • Fragile X-associated Primary Ovarian Insufficiency (FXPOI) is the most common genetic cause of premature ovarian failure in women with a normal karyotype 46, XX. The expansion of a CGG repeat in the 5' untranslated region of the FMR1 gene from the normal range of 5-45 repeats to the premutation range of 55-199 CGGs leads to risk of FXPOI for ovary-bearing individuals. About 1:150-1:200 women in the US population carry a premutation. Women who carry an FMR1 premutation have a roughly 20% risk of being diagnosed with FXPOI, compared to 1% for the general population, and an 8-15% risk of developing the neurogenerative tremor/ataxia disorder (FXTAS). FMR1 premutation women are also at increased risk of having a child with a CGG repeat that is expanded to >200 repeats (a full mutation). Individuals with a full mutation, unlike the premutation, produce little to no mRNA or protein from the FMR1 gene and are affected with Fragile X syndrome. (en)
dbo:wikiPageExternalLink
dbo:wikiPageID
  • 39611379 (xsd:integer)
dbo:wikiPageLength
  • 20414 (xsd:nonNegativeInteger)
dbo:wikiPageRevisionID
  • 1118020129 (xsd:integer)
dbo:wikiPageWikiLink
dbp:causes
  • FMR1 premutation (en)
dbp:diagnosis
  • genetic testing (en)
dbp:name
  • Fragile X-associated Primary Ovarian Insufficiency (en)
dbp:pronounce
  • fax-poi (en)
dbp:specialty
  • genetics, reproductive endocrinology (en)
dbp:symptoms
  • Elevated follicle stimulating hormone and loss of menstrual cycles before age 40 (en)
dbp:synonym
  • premature ovarian failure (en)
dbp:treatment
  • infertility: may use assisted reproductive technologies risk of FMR1 premutation expansion: genetic testing for CGG repeat expansion in embryos or fetuses (en)
dbp:wikiPageUsesTemplate
dcterms:subject
rdf:type
rdfs:comment
  • Fragile X-associated Primary Ovarian Insufficiency (FXPOI) is the most common genetic cause of premature ovarian failure in women with a normal karyotype 46, XX. The expansion of a CGG repeat in the 5' untranslated region of the FMR1 gene from the normal range of 5-45 repeats to the premutation range of 55-199 CGGs leads to risk of FXPOI for ovary-bearing individuals. About 1:150-1:200 women in the US population carry a premutation. Women who carry an FMR1 premutation have a roughly 20% risk of being diagnosed with FXPOI, compared to 1% for the general population, and an 8-15% risk of developing the neurogenerative tremor/ataxia disorder (FXTAS). FMR1 premutation women are also at increased risk of having a child with a CGG repeat that is expanded to >200 repeats (a full mutation). Individ (en)
rdfs:label
  • Fragile X-associated primary ovarian insufficiency (en)
owl:sameAs
prov:wasDerivedFrom
foaf:isPrimaryTopicOf
is dbo:wikiPageWikiLink of
is foaf:primaryTopic of
Powered by OpenLink Virtuoso    This material is Open Knowledge     W3C Semantic Web Technology     This material is Open Knowledge    Valid XHTML + RDFa
This content was extracted from Wikipedia and is licensed under the Creative Commons Attribution-ShareAlike 3.0 Unported License