46,xy Sex Reversal

Alias:
Swyer Syndrome
Pure Gonadal Dysgenesis 46,xy
Gonadal Dysgenesis, 46,xy
Gonadal Dysgenesis, Xy Female Type
46,xy Complete Gonadal Dysgenesis
46,xy Pure Gonadal Dysgenesis
Female with 46,xy Karyotype
Xy Pure Gonadal Dysgenesis
46 Xy Gonadal Dysgenesis
Xy Females
46,xy Cgd
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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
46,xy性别反转,也被称为Swyer综合症,与46,xy性别反转1和46,xy性别反转11有关。与46,xy性别反转相关的基因是AR(雄激素受体),其相关通路/超通路包括信号转导和神经系统发育。附属组织包括子宫和睾丸,相关表型包括shRNA丰度增加(Z-score>2)和乳腺囊泡形成减少。
Related ID:
MESH:D006061
ICD11:1844256276

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
X染色体
X显
常隐
青少年
--
24
256
2

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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