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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
Gastritis, Familial Giant Hypertrophic
Alias:
Menetrier Disease
Giant Hypertrophic Gastritis
Gastric Mucosal Hypertrophy
Hypoproteinemic Hypertrophic Gastropathy
Gastritis, Hypertrophic
Giant Hypertrophic Hypersecretory Gastritis
Familial Giant Hypertrophic Gastritis
Giant Rugal Hypertrophy of Stomach
Hypertrophic Gastropathy
Hypertrophic Gastritis
Menetrier's Disease
Ménétrier Disease
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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
胃炎,家族性巨大增生,也被称为门特里病,与蛋白质丢失性肠病和淋巴细胞性胃炎有关,症状包括消化不良。与胃炎,家族性巨大增生相关的基因是TGFA(转化生长因子α),其相关通路/超级通路包括胰岛素样生长因子(IGF)的运输和摄取的调节,由胰岛素样生长因子结合蛋白(IGFBPs)介导。在该疾病的背景下,已提到的药物包括西妥昔单抗和抗肿瘤免疫药物。相关组织包括结肠和胰腺,相关表型为巨大增生性胃炎和胃黏膜形态异常。
Related ID:
MALACARDS:GST095
OMIM:137280
MESH:D005758
ICD11:1343994188
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
孩童期
--
12
96
5
GST095
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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