Curly Hair-Acral Keratoderma-Caries Syndrome (CHACS)

Alias:
Chacs
Chac Syndrome
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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
卷发-掌跖角化-龋齿综合征,也称为CHACS,与amed综合征有关,是二联性的。与卷发-掌跖角化-龋齿综合征相关的重要基因是VPS13A(Vacuolar Protein Sorting 13 Homolog A)。相关组织包括皮肤和尾状核。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
孩童期
<1/1000000
1
4
1

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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