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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
Vas Deferens, Congenital Bilateral Aplasia of (CBAVD)
Alias:
Congenital Bilateral Absence of Vas Deferens
Cbavd
Cavd
Congenital Bilateral Agenesis of Vas Deferens
Congenital Bilateral Aplasia of Vas Deferens
Congenital Bilateral Absence of the Vas Deferens
Congenital Bilateral Aplasia of Vas Deferens from Cftr Mutation
Vas Deferens, Congenital Bilateral Absence
Congenital Absence of Vas Deferens
Congenital Aplasia of Vas Deferens
Absence of Vas Deferens
Absent Vas Deferens
Absent Vasa
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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
精索静脉,先天性双侧缺如,又称先天性双侧精索静脉缺如,与精索静脉,先天性双侧缺如,X连锁和囊性纤维化有关。与精索静脉,先天性双侧缺如相关的基因是CFTR(CF跨膜传导调节器),其相关通路/超通路包括气道上皮细胞中CFTR依赖的离子通道调节(正常和CF)和NO依赖的CFTR激活(正常和CF)。已提及与这种疾病相关的药物是二肽基肽酶IV抑制剂。附属组织包括睾丸和前列腺,相关表型为无精索静脉和男性不育。
Related ID:
MALACARDS:VSD002
OMIM:277180
MESH:D052801
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
X染色体
X显
青少年
--
54
249
172
VSD002
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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