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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
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (STAR)
Alias:
Star Syndrome
Syndactyly-Telecanthus-Anogenital and Renal Malformations Syndrome
Syndactyly with Renal and Anogenital Malformations
Star
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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
脚趾并指、眼距增宽和生殖泌尿系统畸形,也被称为星状综合征,与脂质性先天性肾上腺增生和星缺乏引起的先天性脂质性肾上腺增生有关。与脚趾并指、眼距增宽和生殖泌尿系统畸形有关的重要基因是CCNQ(周期蛋白Q)。相关组织包括脊髓和骨骼,相关表型为身材矮小和第五手指的屈指畸形。
Related ID:
MALACARDS:TSY002
OMIM:300707
MESH:C567475
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X隐
新生儿
<1/1000000
15
83
3
TSY002
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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