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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
Pancreatitis
Alias:
Mumps Pancreatitis
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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
胰腺炎,又称腮腺炎性胰腺炎,与胰腺炎、遗传性热带钙化性胰腺炎有关,症状包括腹痛、便秘和腹泻。与胰腺炎相关的重要基因是REG3A(再生家族成员3α),其相关通路/超级通路包括水溶性维生素和辅因子代谢以及钴胺素(Cbl,维生素B12)运输和代谢。在该疾病的背景下提到了甲硝唑和肾上腺素。相关组织包括胰腺和小肠,相关表型为稳态/代谢和内分泌/外分泌腺。
Related ID:
MALACARDS:PNC044
MESH:D010195
ICD11:1732807739
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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59
545
61
PNC044
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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