Cockayne Syndrome a (CSA)

Alias:
Cockayne Syndrome Type 1
Cockayne Syndrome, Type a
Cockayne Syndrome Type I
Csa
Ckn1
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cockayne Syndrome a, also known as cockayne syndrome type 1, is related to uv-sensitive syndrome 2 and cockayne syndrome type 3. An important gene associated with Cockayne Syndrome a is ERCC8 (ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit), and among its related pathways/superpathways are Homology Directed Repair and Chks in Checkpoint Regulation. Affiliated tissues include skin and eye, and related phenotypes are intellectual disability and failure to thrive
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
43
206
68

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!
Wechat
Comparison
Al agent
Tutorials
Back to top