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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
Burning Mouth Syndrome (BMS)
Alias:
Orodynia
Stomatopyrosis
Stomatodynia
Oral Dysesthesia
Bms
Bms - [burning Mouth Syndrome]
Sore Mouth Syndrome
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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
灼口症,又称为口腔痛,与三叉神经痛和焦虑有关,症状包括口腔表现。与灼口症相关的重要基因是TRPV1(瞬时受体电位阳离子通道家族V成员1),其相关通路/超级通路包括猝死易感性通路和消化吸收通路。在该疾病的背景下,已提到过辣椒素和硫辛酸这两种药物。附属组织包括舌和前额叶皮层,相关表型为灼口和抑郁。
Related ID:
MALACARDS:BRN009
MESH:D002054
ICD11:618998878
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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成年期
--
16
108
--
BRN009
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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