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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
罕见病
Thyrotropin-Releasing Hormone Deficiency
Alias:
Hypothalamic Hypothyroidism
Isolated Thyroliberin Deficiency
Isolated Thyrotropin-Releasing Hormone Deficiency
Isolated Thyrotropin-Releasing Factor Deficiency
Hormone Deficiency, Thyrotropin-Releasing
Isolated Tsh-Releasing Factor Deficiency
Isolated Prothyroliberin Deficiency
Isolated Protirelin Deficiency
Thyrotropin-Releasing Hormone
Isolated Trf Deficiency
Isolated Trh Deficiency
Trh Deficiency
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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
促甲状腺激素释放激素缺乏症,又称下丘脑性甲状腺功能减退症,与先天性非原发性甲状腺功能减退症7型和先天性非原发性甲状腺功能减退症4型有关。与促甲状腺激素释放激素缺乏症有关的重要基因是TRH(促甲状腺激素释放激素)。在该疾病的背景下,已提到的药物有地塞米松和地塞米松醋酸酯。相关组织包括甲状腺和垂体,相关表型为智力障碍和便秘。
Related ID:
MALACARDS:THY039
OMIM:275120
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
全年龄段
--
1
7
4
THY039
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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