Cockayne Syndrome (CS)

Alias:
Cockayne's Syndrome
Dwarfism-Retinal Atrophy-Deafness Syndrome
Neill-Dingwall Syndrome
Cs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cockayne Syndrome, also known as cockayne's syndrome, is related to cockayne syndrome b and cockayne syndrome a. An important gene associated with Cockayne Syndrome is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are Homology Directed Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). The drugs Sirolimus and Sorbitol have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are abnormality of retinal pigmentation and growth delay
Related ID:
MESH:D003057

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
1-9/1000000
86
965
84

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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
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