Hypoparathyroidism

Alias:
Hypoparathyroidism Due to Impaired Pth - [parathyroid Hormone] Secretion
Deficiency of Parathyroid Hormone
Syndrome with Hypoparathyroidism
Parathyroid Gland Insufficiency
Parathyroid Insufficiency
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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
甲状旁腺功能减退症,也被称为甲状旁腺激素缺乏症,与甲状旁腺功能减退-发育迟缓-畸形综合症和X连锁甲状旁腺功能减退症有关。与甲状旁腺功能减退症相关的基因是GCM2(神经胶质细胞缺失转录因子2),其相关通路/超级通路包括信号转导和软骨化骨与骨骼发育不良。在该疾病的背景下,已经提到了贝美前列素和柠檬酸钠。附属组织包括甲状腺和肾脏,相关表型包括稳态/新陈代谢和生长/大小/身体部位。
Related ID:
MESH:D007011
ICD11:129706072

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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28
366
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Medical Symptom

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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

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CAS Number
Status
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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
No Data Found!
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