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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
非罕见病
Thyroid Hormone Resistance, Selective Pituitary (PRTH)
Alias:
Selective Pituitary Resistance to Thyroid Hormone
Selective Pituitary Thyroid Hormone Resistance
Prth
Familial Hyperthyroidism Due to Inappropriate Thyrotropin Secretion
Hyperthyroidism, Familial, Due to Inappropriate Thyrotropin Secretion
Pituitary Resistance to Thyroid 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
甲状腺激素抵抗,选择性垂体,也称为选择性垂体对甲状腺激素的抵抗,与甲状腺激素抵抗,泛发性,常染色体隐性以及垂体腺瘤有关。与甲状腺激素抵抗,选择性垂体相关的基因是THRB(甲状腺激素受体β),其相关通路/超通路包括转录作用VDR在调节骨质疏松症涉及的基因以及甲状腺激素的产生和周围下游信号传导效应。在该疾病的背景下,已提及了Pembrolizumab和免疫检查点抑制剂。附属组织包括甲状腺和垂体,相关表型为甲状腺功能亢进和循环中促甲状腺激素浓度升高。
Related ID:
MALACARDS:THY069
OMIM:145650
MESH:C564154
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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13
124
15
THY069
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
Function
Score
Mutations
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Name
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Status
Phase
No data available
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Category
Name
MGI
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