Premature Ovarian Failure 1 (POF1)

Alias:
Fragile X-Associated Primary Ovarian Insufficiency
Fmr1-Related Primary Ovarian Insufficiency
Ovarian Failure, Premature
Primary Ovarian Insufficiency, Fragile X-Associated
Hypergonadotropic Ovarian Failure, X-Linked
Primary Ovarian Insufficiency 1
Ovarian Failure Premature
Pof1
Pofx
Pof
X-Linked Hypergonadotropic Ovarian Failure
Hypergonadotropic Ovarian Failure X-Linked
Premature Ovarian Failure, X-Linked
Fragile X Premature Ovarian Failure
Premature Ovarian Failure, Familial
Premature Ovarian Failure X-Linked
Ovarian Failure, Premature, Type 1
Primary Ovarian Insufficiency
Premature Ovarian Failure-1
Primary Hypogonadism
Premature Menopause
Turner Syndrome
Fxpoi
Poi
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Premature Ovarian Failure 1, also known as fragile x-associated primary ovarian insufficiency, is related to perrault syndrome and blepharophimosis, ptosis, and epicanthus inversus, and has symptoms including pelvic pain An important gene associated with Premature Ovarian Failure 1 is FMR1 (Fragile X Messenger Ribonucleoprotein 1), and among its related pathways/superpathways are Primary ovarian insufficiency and Kisspeptin/kisspeptin receptor system in the ovary. The drugs Norethisterone and Ganirelix have been mentioned in the context of this disorder. Affiliated tissues include Adipose, Umbilical Cord and bone marrow, and related phenotypes are increased circulating gonadotropin level and premature ovarian insufficiency
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
XL
XLR
Unknown
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274
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Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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IF
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