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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
Osteoporosis-Pseudoglioma Syndrome (OPPG)
Alias:
Oppg
Ocular Form of Osteogenesis Imperfecta
Osteoporosis with Pseudoglioma
Osteogenesis Imperfecta, Ocular Form
Ops
Osteogenesis Imperfecta Ocular Form
Osteoporosis Pseudoglioma Syndrome
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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
骨质疏松伪脑瘤综合症,也称为OPPG,与视网膜脱离和持续性增生性原始玻璃体有关。与骨质疏松伪脑瘤综合症相关的重要基因是LRP5(LDL受体相关蛋白5),其相关通路/超级通路包括信号转导和RAF/MAP激酶级联反应。在该疾病的背景下提到了柠檬酸钠和碳酸锂。附属组织包括骨和眼,相关表型为骨质疏松和骨折易感性增加。
Related ID:
MALACARDS:OST024
OMIM:259770
MESH:C536063
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
--
20
260
22
OST024
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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