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Hypogonadotropic Hypogonadism
别称:
Klinefelter Syndrome
|
Klinefelter's Syndrome
|
Xxy Syndrome
|
Xxy Trisomy
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Hypogonadotropism
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Congenital Idiopathic Hypogonadotropic Hypogonadism
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Klinefelter Syndrome with Karyotype 47,xxy, Regular
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Isolated Congenital Gonadotropin Deficiency
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Klinefelter Syndrome Karyotype 47, Xxy
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Other Specified Klinefelter Syndrome
|
Klinefelter Syndrome, Unspecified
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Klinefelter Syndrome in Males
|
Klinefelter Syndrome Nos
|
Klinefelters Syndrome
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47,xxy Syndrome
|
Hypogonadism
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47, Xxy
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Hypogonadotropic hypogonadism (HH) is a condition caused by issues in the hypothalamus or pituitary gland, affecting the hypothalamic-pituitary-gonadal axis (HPG axis). It results from a deficiency in the release of gonadotropic releasing hormone (GnRH) or gonadotropins. GnRH is crucial for reproductive function and sexual development, acting on the anterior pituitary to release LH and FSH, which then act on the gonads. This leads to the secretion of sex steroids and the initiation of folliculogenesis and spermatogenesis. HH is associated with impaired signaling by GnRH. Klinefelter syndrome (KS) is a genetic condition where males have an extra X chromosome, leading to infertility and small testicles. It can affect physical, language, and social development, causing primary testicular insufficiency due to reduced testosterone production. Individuals with KS may have subtle physical changes like increased height, and may experience delays in speech and language development. They are at risk for learning disabilities, anxiety, depression, and metabolic syndrome. KS is a chromosomal duplication syndrome that affects male development and can have various physical and cognitive effects depending on the number of extra X chromosomes present.
相关ID:
MALACARDS: HYP730
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MESH: D007713
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ICD11: 1472503127
基础信息
遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
Ot
其他
未知
--
303
2841
4
HYP730
疾病表征
当前疾病关联的表型信息:
分类:疾病表征所属解剖分类;
HPO概率/Orphanet概率:对应表征在当前疾病的发生概率,可根据发生概率进行排序;
HPO来源:跳转至HPO查看表征详情。
数据来源:HPO、Orphanet
基因 & 突变
当前疾病关联的基因及其突变:
作用分类:基因的主要生物学作用;
分值:疾病与基因之间的关联强度,分值越高,关联越紧密;
突变数量:疾病与基因相关的突变数量,括号内数字为同一Clinvar ID关联的数据总量,点击数字即可查看突变详情。
数据来源:Clinvar
靶点药物
与当前基因相关药物,展示CAS号、研发与临床试验状态。
数据来源:Clinical Trials
相关模型
当前基因相关的小鼠模型,点击模型名称,可查看模型详情。
数据来源:MGI
文献报道
当前基因最为密切相关的文献,可按年份、文献类型筛选,并可根据影响因子排序。
数据来源:Uniprot、PubMed
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