Isolated Growth Hormone Deficiency (IGHD)

孤立性生长激素缺乏症(来自翻译大模型)

别称:

Non-Acquired Isolated Growth Hormone Deficiency

Congenital Isolated Growth Hormone Deficiency

Congenital Isolated Gh Deficiency

Congenital Ighd

Isolated Somatotropin Deficiency

Dwarfism, Pituitary

Pituitary Dwarfism

Isolated Congenital Growth Hormone Deficiency

Familial Isolated Growth Hormone Deficiency

Isolated Somatotropin Deficiency Disorder

Isolated Human Growth Hormone Deficiency

Dwarfism, Growth Hormone Deficiency

Growth Hormone Deficiency Dwarfism

Isolated Hgh Deficiency

Isolated Gh Deficiency

Dwarfism Pituitary

Ighd

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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

孤立性生长激素缺乏症，又称非获得性孤立性生长激素缺乏症，与孤立性生长激素缺乏症、类型ib和孤立性生长激素缺乏症类型iii有关。与孤立性生长激素缺乏症有关的重要基因是POU1F1（POU类1同源框1），其相关通路/超级通路包括激素控制青春期生长突增。在该疾病的背景下提到了精氨酸和激素。附属组织包括垂体和b细胞，相关表型为延迟骨骼成熟和身材矮小。

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