{"Name":"Premature ovarian failure 1","DiseaseID__c":"GARD:0002811","id":2811,"encodedName":"premature-ovarian-failure-1","IsDeleted":false,"Disease_Name_Full__c":"Premature ovarian failure 1","Xref_IDs__c":"C4552079; DOID:0080857; MEDGEN:1644269; MONDO:0010706; OMIM:311360; ORPHA:642691","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010706","Disease_Description__c":"Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene.","GARD_Name__c":"Premature ovarian failure 1","GARD_Synonym__c":"fmr1 primary ovarian failure; fmr1-related primary ovarian insufficiency; fragile x associated primary ovarian insufficiency; fragile x premature ovarian failure; fragile x-associated primary ovarian insufficiency; hypergonadotropic ovarian failure, x-linked; pof1; premature ovarian failure type 1; premature ovarian failure, x-linked; primary ovarian failure caused by mutation in fmr1; primary ovarian insufficiency, fragile x-associated","Curated_Disease_Description_Source__c":"MONDO:0010706","Curated_Disease_Description__c":"Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that affects women and is characterized by reduced function of the ovaries. The ovaries are the female reproductive organs in which egg cells are produced. As a form of primary ovarian insufficiency, FXPOI can cause irregular menstrual cycles, early menopause, an inability to have children (infertility), and elevated levels of a hormone known as follicle stimulating hormone (FSH). FSH is produced in both males and females and helps regulate the development of reproductive cells (eggs in females and sperm in males). In females, the level of FSH rises and falls, but overall it increases as a woman ages. In younger women, elevated levels may indicate early menopause and fertility problems. The severity of FXPOI is variable. The most severely affected women have overt POI (formerly called premature ovarian failure). These women have irregular or absent menstrual periods and elevated FSH levels before age 40. Overt POI often causes infertility. Other women have occult POI; they have normal menstrual periods but reduced fertility, and they may have elevated levels of FSH (in which case, it is called biochemical POI). The reduction in ovarian function caused by FXPOI results in low levels of the hormone estrogen, which leads to many of the common signs and symptoms of menopause, such as hot flashes, insomnia, and thinning of the bones (osteoporosis). Women with FXPOI undergo menopause an average of 5 years earlier than women without the condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010706","ORPHANET_ID__c":"ORPHA:642691","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Insuficiencia ovárica primaria asociada al cromosoma x frágil","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"insuficiencia ovárica primaria asociada al cromosoma x frágil","Spanish_GARD_Synonym__c":"fallo ovárico precoz asociado a una premutación del cromosoma x frágil; fallo ovárico precoz asociado al cromosoma x frágil; fop asociado a una premutación del cromosoma x frágil; fop asociado al cromosoma x frágil; insuficiencia ovárica primaria asociada a una premutación del cromosoma x frágil; iop asociada a una premutación del cromosoma x frágil; iop asociada al cromosoma x frágil","Category_Linearization__c":"ORPHA:97978","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that affects women and is characterized by reduced function of the ovaries. The ovaries are the female reproductive organs in which egg cells are produced. As a form of primary ovarian insufficiency, FXPOI can cause irregular menstrual cycles, early menopause, an inability to have children (infertility), and elevated levels of a hormone known as follicle stimulating hormone (FSH). FSH is produced in both males and females and helps regulate the development of reproductive cells (eggs in females and sperm in males). In females, the level of FSH rises and falls, but overall it increases as a woman ages. In younger women, elevated levels may indicate early menopause and fertility problems. The severity of FXPOI is variable. The most severely affected women have overt POI (formerly called premature ovarian failure). These women have irregular or absent menstrual periods and elevated FSH levels before age 40. Overt POI often causes infertility. Other women have occult POI; they have normal menstrual periods but reduced fertility, and they may have elevated levels of FSH (in which case, it is called biochemical POI). The reduction in ovarian function caused by FXPOI results in low levels of the hormone estrogen, which leads to many of the common signs and symptoms of menopause, such as hot flashes, insomnia, and thinning of the bones (osteoporosis). Women with FXPOI undergo menopause an average of 5 years earlier than women without the condition.","Curated_Disease_Description_Source__c":"MONDO:0010706","GARD_Synonym__c":"fmr1 primary ovarian failure; fmr1-related primary ovarian insufficiency; fragile x associated primary ovarian insufficiency; fragile x premature ovarian failure; fragile x-associated primary ovarian insufficiency; hypergonadotropic ovarian failure, x-linked; pof1; premature ovarian failure type 1; premature ovarian failure, x-linked; primary ovarian failure caused by mutation in fmr1; primary ovarian insufficiency, fragile x-associated","Name":"Premature ovarian failure 1","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080857","Source__c":"MONDO:0010706","Xref__c":"DOID:0080857"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4552079","Source__c":"C4552079","Xref__c":"C4552079"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1644269","Source__c":"C4552079","Xref__c":"MEDGEN:1644269"},{"URL__c":"https://www.orpha.net/en/disease/detail/642691","Source__c":"MONDO:0010706","Xref__c":"ORPHA:642691"},{"URL__c":"https://www.omim.org/entry/311360","Source__c":"C4552079; MONDO:0010706; ORPHA:642691","Xref__c":"OMIM:311360"},{"URL__c":"https://medlineplus.gov/genetics/condition/fragile-x-associated-primary-ovarian-insufficiency","Source__c":"GARD:0002811","Xref__c":"https://medlineplus.gov/genetics/condition/fragile-x-associated-primary-ovarian-insufficiency"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1332509007","Source__c":"C4552079","Xref__c":"1332509007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010706","Source__c":"GARD:0002811","Xref__c":"MONDO:0010706"},{"URL__c":"https://www.nichd.nih.gov/health/topics/fxpoi"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FMR1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fmr1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:311360","Feature__r":{"HPO_Description__c":"Abnormally high variation in the amount of time between periods.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000858","HPO_Synonym__c":"Irregular menses; Irregular periods; Menstrual irregularities; Menstrual irregularity","HPO_Name__c":"Irregular menstruation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:311360","Feature__r":{"HPO_Description__c":"Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008209","HPO_Synonym__c":"Climacterium praecox; Early menopause; Hypergonadotropic amenorrhea; Menopause praecox; Premature menopause; Premature ovarian failure; Primary ovarian insufficiency","HPO_Name__c":"Premature ovarian insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:311360","Feature__r":{"HPO_Description__c":"Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000837","HPO_Synonym__c":"Elevated gonadotropins; Elevated serum gonadotropins; Gonadotropin excess; Increased circulating gonadotropin level","HPO_Name__c":"Increased circulating gonadotropin level","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology"]},"synonyms":["fmr1 primary ovarian failure"," fmr1-related primary ovarian insufficiency"," fragile x associated primary ovarian insufficiency"," fragile x premature ovarian failure"," fragile x-associated primary ovarian insufficiency"," hypergonadotropic ovarian failure, x-linked"," pof1"," premature ovarian failure type 1"," premature ovarian failure, x-linked"," primary ovarian failure caused by mutation in fmr1"," primary ovarian insufficiency, fragile x-associated"]}