Hypothyroidism, Congenital, Nongoitrous, 1 (CHNG1)

非结节型先天性甲状腺功能低下1型(来自ICD-11)

别称:

Tsh Resistance

Hypothyroidism Due to Tsh Receptor Mutations

Chng1

Hypothyroidism Due to Unresponsiveness to Thyrotropin

Congenital Nongoitrous Hypothyroidism 1

Thyrotropin Resistance

Rtsh

Hypothyroidism, Congenital, Due to Tsh Resistance

Congenital Hypothyroidism Due to Tsh Resistance

Hypothyroidism, Congenital, Nongoitrous, Type 1

Hypothyroidism, Congenital, Non-Goitrous, 1

Thyroid-Stimulating Hormone, Resistance to

Hypothyroidism, Congenital, Nongoitrous, 3

Thyroid-Stimulating Hormone Resistance

Thyroid Hormone Resistance Syndrome

Hypothyroidism, Nonautoimmune

Non-Autoimmune Hypothyroidism

Thyroid-Stimulating Hormone

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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

甲状腺功能减退症，先天性，非胶质性，1型，也称为TSH抵抗，与TSH受体突变引起的家族性甲状腺功能亢进有关。与甲状腺功能减退症，先天性，非胶质性，1型相关的基因是TSHR（甲状腺刺激素受体），其相关通路/超级通路包括信号转导和G蛋白偶联受体下游信号转导。在该疾病的背景下，已提到甲硫咪唑和抗甲状腺药物。附属组织包括甲状腺和垂体，相关表型为对甲状腺刺激素的敏感性降低和先天性甲状腺功能减退症。

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