Hypothyroidism, Congenital, Nongoitrous, 4 (CHNG4)

Alias:
Tsh Deficiency
Chng4
Congenital Nongoitrous Hypothyroidism 4
Thyroid-Stimulating Hormone Deficiency
Thyrotropin Deficiency, Isolated
Pituitary Cretinism
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothyroidism, Congenital, Nongoitrous, Type 4
Tsh - [thyroid Stimulating Hormone] Deficiency
Hypothyroidism, Congenital, Non-Goitrous, 4
Hypothyroidism, Congenital, Nongoitrous 4
Isolated Thyrotropin Deficiency
Secondary Hypothyroidism
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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,4型,也称为TSH缺乏症,与甲状腺功能减退症,先天性,非胶质性,1型和格雷夫斯病1型有关。与甲状腺功能减退症,先天性,非胶质性,4型相关的重要基因是TSHB(促甲状腺激素亚基β),其相关通路/超通路包括肽激素代谢和生长激素受体信号转导。在该疾病的背景下提到了柠檬酸钠和柠檬酸。附属组织包括甲状腺和垂体,相关表型为甲状腺功能减退症和甲状腺刺激素水平降低。
Related ID:
MESH:D003409
ICD11:1424380846

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
--
11
91
23

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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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