Insulin-Like Growth Factor I (IGF1RES)

Alias:

Insulin-Like Growth Factor I, Resistance to

Insulin-Like Growth Factor I Deficiency

Igf1 Deficiency

Igf-I Resistance

Igf1res

Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency

Growth Retardation with Sensorineural Deafness and Mental Retardation

Growth Delay Due to Insulin-Like Growth Factor Type 1 Deficiency

Growth Delay Due to Insulin-Like Growth Factor I Resistance

Insulin-Like Growth Factor 1, Resistance to

Resistance to Insulin-Like Growth Factor I

Somatomedin, End-Organ Insensitivity to

Insulin-Like Growth Factor 1 Resistance

End-Organ Insensitivity to Somatomedin

Somatomedin-C, Resistance to

Resistance to Somatomedin-C

Igf1 Resistance

Somatomedin-C

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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

胰岛素样生长因子I，也称为igf1缺乏症，与由于胰岛素样生长因子I抵抗和酸不稳定亚单位缺乏导致的生长延迟有关，其症状包括焦虑。与胰岛素样生长因子I相关的基因是IGF1R（胰岛素样生长因子1受体），其相关通路/超级通路包括蛋白质代谢和ERK信号通路。在该疾病的背景下，已提到的药物有伊立替康和奥沙利铂。附属组织包括骨和平滑肌，相关表型为智力障碍和眼睑下垂。

Related ID：

MALACARDS：INS024

OMIM：270450

MESH：D006130