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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
Dyschromatosis Symmetrica Hereditaria (DSH)
Alias:
Dyschromatosis Symmetrica Hereditaria 1
Reticulate Acropigmentation of Dohi
Acropigmentation of Dohi
Symmetric Dyschromatosis of the Extremities
Symmetrical Dyschromatosis of Extremities
Dsh1
Dsh
Rad
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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
遗传性对称性色素异常症,也称为多希网状掌跖色素沉着症,与Aicardi-Goutieres综合症6和北村网状掌跖色素沉着症有关。与遗传性对称性色素异常症有关的重要基因是ADAR(腺苷脱氨酶RNA特异性),其相关通路/超级通路包括人类冠状病毒-干扰素诱导的宿主-病原体相互作用和ATP/ITP代谢。附属组织包括皮肤和脊髓,相关表型为斑点和斑点性色素减退。
Related ID:
MALACARDS:DYS022
OMIM:127400
MESH:C535729
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
1-9/100000
21
179
41
DYS022
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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