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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
Hyperalphalipoproteinemia 1 (HALP1)
Alias:
Hyperalphalipoproteinemia
Cholesterol-Ester Transfer Protein Deficiency
Cholesteryl Ester Transfer Protein Deficiency
Cetp Deficiency
Halp1
Familial Hyperalphalipoproteinemia
Cept Deficiency
Cholesterol Ester Transfer Protein Deficiency
Familial Hyperalphalipoproteinemia Type I
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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
高α-脂蛋白血症1,也称为高α-脂蛋白血症,与载脂蛋白C-III缺乏和冠状动脉狭窄有关。与高α-脂蛋白血症1相关的重要基因是CETP(胆固醇酯转移蛋白),其相关通路/超级通路包括无机离子/氨基酸/寡肽的代谢和运输。在该疾病的背景下提到了阿德诺辛和药物溶液。附属组织包括心脏和脂肪细胞,相关表型为高脂血症和高胆固醇血症。
Related ID:
MALACARDS:HYP732
OMIM:143470
MESH:C564591
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
未知
--
13
109
36
HYP732
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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