Thyroid Hormone Resistance, Generalized, Autosomal Dominant (GRTHD)

常染色体显性全身性甲状腺激素抵抗(来自ICD-11)

别称:

Thyroid Hormone Resistance Syndrome

Thyroid Hormone Resistance

Generalized Thyroid Hormone Resistance

Thyroid Hormone Unresponsiveness

Grthd

Gthr

Hyperthyroxinemia, Familial Euthyroid, Secondary to Pituitary and Peripheral Resistance to Thyroid Hormones

Familial Euthyroid Hyperthyroxinemia, Secondary to Pituitary and Peripheral Resistance to Thyroid Hormones

Hyperthyroxinemia, Familial Euthyroid, Secondary to Pituitary and Peripheral Thyroid Hormones

Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Thyroid Hormone Responsiveness Defect

Refetoff Syndrome

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

甲状腺激素抵抗，泛发性，常染色体显性，也称为甲状腺激素抵抗综合症，与甲状腺激素抵抗，泛发性，常染色体隐性，先天性，非胶质性，2型有关。与甲状腺激素抵抗，泛发性，常染色体显性相关的基因是THRB（甲状腺激素受体β），其相关通路/超级通路包括SLITs和ROBOs表达的调节和Angiopoietin-like protein 8调节通路。附属组织包括甲状腺和垂体，相关表型包括语言发育延迟和甲状腺肿大。

查看原文参与反馈