Classic Ehlers-Danlos Syndrome (CEDS)

Alias:
Ehlers-Danlos Syndrome, Classic Type
Classical Ehlers-Danlos Syndrome
Classical Eds
Ceds
Eds, Classic Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Classic Ehlers-Danlos Syndrome, also known as ehlers-danlos syndrome, classic type, is related to ehlers-danlos syndrome, classic type, 2 and ehlers-danlos syndrome, classic type, 1. An important gene associated with Classic Ehlers-Danlos Syndrome is COL5A1 (Collagen Type V Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. The drug Thrombin has been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are striae distensae and hyperextensible skin
Related ID:
ICD11:1724920772

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
1-9/100000
6
259
98

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
No Data Found!
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