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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
Central Diabetes Insipidus (CDI)
Alias:
Neurogenic Diabetes Insipidus
Cdi
Diabetes Insipidus Secondary to Vasopressin Deficiency
Adh - [antidiuretic Hormone Secretion] Deficiency
Primary Central Diabetes Insipidus
Antidiuretic Hormone Hyposecretion
Vasopressin Deficiency Syndrome
Diabetes Mellitus Insipidus
Familial Diabetes Insipidus
Di - [diabetes Insipidus]
Vasopressin Hyposecretion
Vasopressin Deficiency
Diabetes Insipidus
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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
中枢性尿崩症,又称神经性尿崩症,与渴感性尿崩症和神经垂体性尿崩症有关。与中枢性尿崩症相关的基因是AVP(精氨酸加压素),其相关通路/超级通路包括A类/1(视黄醇受体样受体)和水通道介导的运输。在该疾病的背景下提到了药物咪达唑仑和氨氯地平。附属组织包括垂体和下丘脑,相关表型为生长发育不良和脱水。
Related ID:
MALACARDS:CNT122
ICD11:1009553897
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X隐
常隐
常显
X染色体
孩童期
1-9/100000
18
128
--
CNT122
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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