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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
Chylomicron Retention Disease (CMRD)
Alias:
Anderson Disease
Cmrd
Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein in Intestinal Cells
Lipid Transport Defect of Intestine
Andd
Crd
Malabsorption Syndrome
Anderson Syndrome
Andersons 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
乳糜微粒滞留病,又称安德森病,与低脂蛋白血症和低β脂蛋白血症,家族性,2有关,症状包括腹痛、便秘和腹泻。与乳糜微粒滞留病有关的重要基因是SAR1B(分泌相关Ras相关GTP酶1B),其相关通路/超通路包括代谢和囊泡介导的运输。在该疾病的背景下提到了苯佐卡因和异丙酚。附属组织包括肝脏和心脏,相关表型为低胆固醇血症和腹泻。
Related ID:
MALACARDS:CHY002
OMIM:246700
MESH:C535460
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
<1/1000000
28
177
15
CHY002
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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