Papillon-Lefevre Syndrome (PALS)

Alias:
Papillon-Lefèvre Syndrome
Papillon-Lefevre Disease
Pls
Keratosis Palmoplantar-Periodontopathy Syndrome
Keratosis Palmoplantaris with Periodontopathia
Pals
Keratosis Palmoplantar-Periodontopathy
Papillon Lefevre Syndrome
Papillon-Lefvre Syndrome
Palsy
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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
Papillon-Lefevre Syndrome, also known as papillon-lefèvre syndrome, is related to periodontitis and periodontosis. An important gene associated with Papillon-Lefevre Syndrome is CTSC (Cathepsin C), and among its related pathways/superpathways are Innate Immune System and Defensins. The drugs Levodopa and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include skin and bone marrow, and related phenotypes are abnormality of the dentition and palmoplantar keratoderma.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
1-9/1000000
23
204
49

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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