Premature Ovarian Failure 1 (POF1)

卵巢功能早衰1型(来自ICD-11)

别称:

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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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

早发性卵巢功能不全1，也称为脆弱X相关性原发性卵巢功能不全，与佩罗特综合症和眼睑下垂、上睑下垂和反向内眦有关，症状包括盆腔疼痛。与早发性卵巢功能不全1有关的重要基因是FMR1（脆弱X信使核糖核酸1），其相关通路/超级通路包括原发性卵巢功能不全和卵巢中的Kisspeptin/kisspeptin受体系统。在该疾病的背景下，已提到的药物有诺雷酮和甘瑞列克斯。附属组织包括脂肪、脐带和骨髓，相关表型为循环性促性腺激素水平升高和早发性卵巢功能不全。

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