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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
Secondary Hyperparathyroidism
Alias:
Secondary Hyperparathyroidism Nec
Hyperparathyroidism, Secondary
Hyperparathyroidism Secondary
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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
继发性甲状旁腺功能亢进,也称为继发性甲状旁腺功能亢进,与肾源性继发性甲状旁腺功能亢进和维生素D依赖性佝偻病有关。与继发性甲状旁腺功能亢进有关的重要基因是CASR(钙感受器),其相关通路/超级通路包括类固醇代谢和Ca、cAMP和脂质信号转导。在该疾病的背景下提到了醋酸钙和阿托伐他汀。附属组织包括肾脏和骨骼,相关表型为稳态/代谢和生长/大小/身体部位。
Related ID:
MALACARDS:SCN007
MESH:D006962
ICD11:1442752937
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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25
253
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SCN007
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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