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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
Pseudomyxoma Peritonei (PMP)
Alias:
Gelatinous Ascites
Adenomucinosis
Pmp
Mucinous Ascites
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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
伪黏液性腹膜炎,又称胶状腹水,与肠梗阻和良性间皮瘤有关。与伪黏液性腹膜炎相关的基因是MUC2(粘蛋白2,寡聚性粘液/凝胶形成),其相关通路/超通路包括糖基化疾病和粘蛋白的O-连接糖基化。在该疾病的背景下提到了药物雷利替尼和顺铂。附属组织包括阑尾和小肠,相关表型为腹水和腹壁异常
Related ID:
MALACARDS:PSD007
MESH:D011553
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
成年期
1-9/1000000
15
153
--
PSD007
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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