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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
Silver-Russell Syndrome 1 (SRS1)
Alias:
Silver-Russell Syndrome
Russell-Silver Syndrome
Silver-Russell Dwarfism
Rss
Srs1
Srs
Silver Russell Dwarfism
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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
银-Russell 综合征1,也称为银- Russell 综合征,与11p15微重复导致的银- Russell 综合征和11p15印记缺陷导致的银- Russell 综合征有关。与银- Russell 综合征1有关的重要基因是IGF2(胰岛素样生长因子2)。Anastrozole和Hormones已在该疾病的背景下被提及。附属组织包括眼睛和骨骼,相关表型为矮小身材和突出的额头。
Related ID:
MALACARDS:SLV027
OMIM:180860
MESH:D056730
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
1-5/10000
55
370
115
SLV027
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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