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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
Adermatoglyphia (ADERM)
Alias:
Immigration Delay Disease
Aderm
Isolated Congenital Adermatoglyphia
Congenital Absence of Fingerprints
Absence of Fingerprints
Adg
Fingerprints, Absence of
Skin Abnormalities
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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
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:
MALACARDS:ADR038
OMIM:136000
MESH:D012868
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
--
26
237
6
ADR038
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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