Fragile X-associated primary ovarian insufficiency
定义 英文原文（暂无中文）
A rare, genetic premature ovarian failure characterized by decreased, abnormal or loss of ovarian function prior to age 40 in women bearing a premutation in FMR1 gene, defined as an expansion of 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Clinical features include irregular or absent menstrual cycles (amenorrhea), irregular ovulation and altered hormone profile (hypoestrogenism, and elevated serum gonadotropin levels) associated to fragile X premutation. Most of the patients have fertility problems (subfertility or infertility) and undergo early menopause.
别名
FXPOI、Fragile X-associated POF、Fragile X-associated POI、Fragile X-associated premature ovarian failure、POF associated with fragile X premutation、POI associated with fragile X premutation、Premature ovarian failure associated with fragile X premutation、Primary ovarian insufficiency associated with fragile X premutation
基本事实
- 遗传方式
- 常染色体隐性
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| FMR1 | fragile X messenger ribonucleoprotein 1 | Disease-causing germline mutation(s) in |
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）