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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
Wolfram Syndrome
Alias:
Didmoad Syndrome
Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome
Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness
Didmoadud
Didmoad
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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
沃尔夫-帕金森-白质营养不良症,也称为迪姆奥多综合征,与沃尔夫-帕金森-白质营养不良症2型和沃尔夫-帕金森-白质营养不良症1型有关,症状包括共济失调、癫痫发作和震颤。与沃尔夫-帕金森-白质营养不良症相关的基因是WFS1(沃尔夫林内质网跨膜糖蛋白),其相关通路/超通路包括葡萄糖/能量代谢和未折叠蛋白质反应(UPR)。在该疾病的背景下,已提到的药物有乙酰半胱氨酸和去铁酮。相关组织包括眼和垂体,相关表型为糖尿病和感觉神经性听力障碍。
Related ID:
MALACARDS:WLF004
MESH:D014929
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
1-9/100000
41
429
--
WLF004
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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