Ehlers-Danlos Syndrome (EDS)

Alias:
Eds
Cutis Hyperelastica
Elastic Skin
Eds - [ehlers-Danlos Syndrome]
Ehlers Danlos Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ehlers-Danlos Syndrome, also known as eds, is related to ehlers-danlos syndrome, classic type, 1 and ehlers-danlos syndrome, vascular type, and has symptoms including back pain, muscle cramp and sciatica. An important gene associated with Ehlers-Danlos Syndrome is COL3A1 (Collagen Type III Alpha 1 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling pathway. The drugs Celiprolol and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include skin and uterus, and related phenotypes are growth/size/body region and cardiovascular system
Related ID:
MESH:D004535
ICD11:1122707206

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
AD
AR
XL
Newborn
1-9/1000000
77
788
6

Medical Symptom

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

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
No Data Found!
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