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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
Mikulicz Disease
Alias:
Igg4-Related Dacryoadenitis and Sialadenitis
Chronic Dacryoadenitis and Sialadenitis
Mikulicz' Disease
Mikulicz's Disease
Mikulicz 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
米库利奇病,又称IgG4相关泪腺炎和唾液腺炎,与甲状腺炎和慢性鼻炎有关,症状包括面部肿块。与米库利奇病相关的重要基因是IL4(白细胞介素4),其相关通路/超级通路包括先天免疫系统和Akt信号通路。相关组织包括眼睛和唾液腺,相关表型为异常唾液腺形态和扩大的泪腺。
Related ID:
MALACARDS:MKL001
MESH:D008882
ICD11:2012865457
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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全年龄段
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14
139
--
MKL001
Medical Symptom
#
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
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
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PMID
Journal
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IF
No Data Found!
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