fragile X-associated primary ovarian insufficiency

GPTKB entity

Statements (21)
Predicate Object
gptkbp:instanceOf gptkb:disease
genetic disorder
gptkbp:abbreviation gptkb:FXPOI
gptkbp:affects ovaries
gptkbp:causedBy FMR1 gene premutation
gptkbp:diagnosedBy FMR1 gene testing
gptkbp:firstDescribed 2001
https://www.w3.org/2000/01/rdf-schema#label fragile X-associated primary ovarian insufficiency
gptkbp:ICD-10_code E28.3
gptkbp:inheritance X-linked dominant
gptkbp:onset before age 40
gptkbp:prevalence 1 in 250 women
gptkbp:relatedTo gptkb:fragile_X-associated_tremor/ataxia_syndrome
gptkb:fragile_X_syndrome
gptkbp:symptom infertility
menopausal symptoms
irregular menstrual cycles
gptkbp:treatment hormone replacement therapy
fertility counseling
gptkbp:bfsParent gptkb:FMR1
gptkbp:bfsLayer 7