Isolated Growth Hormone Deficiency, Type Ia (IGHD1A)

单纯性生长激素缺乏症1A型(来自ICD-11)

别称:

Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism I

Growth Hormone Deficiency, Isolated, Type Ia

Illig-Type Growth Hormone Deficiency

Sexual Ateleiotic Dwarfism

Primordial Dwarfism

Ighd Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Ighd Type Ia

Ighd1a

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Growth Hormone Deficiency Isolated Autosomal Recessive

Growth Hormone Deficiency, Isolated, 1a

Pituitary Dwarfism 1

Dwarfism, Primordial

Ateleiotic Dwarfism

Dwarfism

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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，类型Ia，也称为孤立性生长激素缺乏症类型ia，与微小头骨发育不良，类型I和Seckel综合症有关，其症状包括背痛，肌肉痉挛和坐骨神经痛。与孤立性生长激素缺乏症，类型Ia有关的重要基因是GH1（生长激素1），其相关通路/超级通路包括间充质干细胞和特异性标记物和G蛋白信号传导_RhoA调节通路。在该疾病的背景下提到了Anastrozole和Letrozole。附属组织包括垂体和骨骼，相关表型为低血糖和生长延迟。

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