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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
Androgen Insensitivity Syndrome (AIS)
Alias:
Androgen Resistance Syndrome
Testicular Feminization Syndrome
Ais
Androgen Receptor Deficiency
Dihydrotestosterone Receptor Deficiency
Goldberg-Maxwell Syndrome
Testicular Feminization
Dhtr Deficiency
Ar Deficiency
Androgen-Insensitivity Syndrome
Androgen Insensitivity
Morris Syndrome
Tfm
Complete Androgen Insensitivity Syndrome
Insensitivity Syndrome, Androgen
Goldberg - Maxwell Syndrome
Androgen Insensitivity Nos
Feminisation - Testicular
Cais
Ary
Ar
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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
雄激素不敏感综合症,也称为雄激素抵抗综合症,与雄激素不敏感、部分雄激素不敏感和完全雄激素不敏感有关。与雄激素不敏感综合症相关的重要基因是AR(雄激素受体),其相关通路/超级通路包括信号转导和葡萄糖/能量代谢。在该疾病的背景下提到了药物Temsirolimus和(R)-Bicalutamide。附属组织包括睾丸和子宫,相关表型是腹股沟疝和原发性闭经。
Related ID:
MALACARDS:AND002
OMIM:300068
MESH:D013734
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X显
胎儿期
1-9/100000
35
356
310
AND002
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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