Adermatoglyphia (ADERM)

Alias:
Immigration Delay Disease
Aderm
Isolated Congenital Adermatoglyphia
Congenital Absence of Fingerprints
Absence of Fingerprints
Adg
Fingerprints, Absence of
Skin Abnormalities
Favorite
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
无汗症,又称移民延迟病,与全血细胞减少和皮肤病有关,症状包括皮疹和瘙痒。与无汗症有关的重要基因是SMARCAD1(SWI/SNF相关,矩阵相关,依赖于肌动蛋白的染色质调节因子亚家族A,含有DEAD/H盒1),其相关通路/超级通路包括NFE2L2介导的核事件和谷胱甘肽结合。在该疾病的背景下提到了叶酸和泛酸。附属组织包括皮肤和乳腺,相关表型为掌跖角化和无汗症。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
--
26
237
6

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!
微信
信息比对
科研助手
使用教程
回到顶部