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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
Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant (ECTD10A)
Alias:
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Ectd10a
Ectodermal Dysplasia Hypohidrotic Autosomal Dominant
Autosomal Dominant Anhidrotic Ectodermal Dysplasia
Ectodermal Dysplasia 10a
Ad-Hed
Hed
Dysplasia, Ectodermal, Type 10a, Hypohidrotic/hair/nail, Autosomal Dominant
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant
Ectodermal Dysplasia, Anhidrotic, Autosomal Dominant
Ectodermal Dysplasia 3
Eda3
Ed3
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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
表皮发育不良10a,无汗/毛发/指甲型,常染色体显性,也称为常染色体显性无汗性表皮发育不良,与表皮发育不良11a,无汗/毛发/牙型,常染色体显性和表皮发育不良11b,无汗/毛发/牙型,常染色体隐性有关。与表皮发育不良10a,无汗/毛发/指甲型,常染色体显性相关的基因是EDAR(表皮发育素A受体),其相关通路/超级通路包括先天免疫系统和免疫系统中的细胞因子信号通路。相关组织包括皮肤和眼睛,相关表型为牙齿异常和无汗症。
Related ID:
MALACARDS:ECT061
OMIM:129490
MESH:D053359
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
12
108
32
ECT061
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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