Fetal Akinesia Deformation Sequence 2 (FADS2)

Alias:
Fads2
Fetal Akinesia Deformation Sequence Syndrome 2
Akinesia, Fetal, Deformation Sequence, Type 2
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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
胎儿不动症变形序列2,也称为fads2,与胎儿不动症变形序列1和2型糖尿病有关。与胎儿不动症变形序列2有关的重要基因是RAPSN(突触相关蛋白)。附属组织包括肺和肝,相关表型为高腭和肌张力低下。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
6
6

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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