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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
非罕见病
Hypervitaminosis a
Alias:
Hypervitaminosis a, Susceptibility to
Hyperalimentation of Vitamin a
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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
维生素A过量,也称为维生素A超营养,与颅内高压、特发性和乳头状瘤有关,症状包括肝大。与维生素A过量有关的重要基因是RBP4(视黄醇结合蛋白4),其相关通路/超级通路包括代谢和信号转导。在该疾病的背景下提到了维生素A和维生素。附属组织包括肝脏和骨骼,相关表型为神经系统和内分泌/外分泌腺。
Related ID:
MALACARDS:HYP058
OMIM:240150
MESH:D006986
ICD11:1465667896
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
16
149
2
HYP058
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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