Ehlers-Danlos Syndrome, Classic Type, 1 (EDSCL1)

Alias:
Ehlers-Danlos Syndrome, Type I
Ehlers-Danlos Syndrome Classic Type 1
Ehlers-Danlos Syndrome Type 1
Edscl1
Ehlers-Danlos Syndrome, Severe Classic Type, Formerly
Ehlers-Danlos Syndrome, Gravis Type, Formerly
Ehlers-Danlos Syndrome, Severe Classic Type
Ehlers-Danlos Syndrome, Type I, Formerly
Ehlers-Danlos, Classic Syndrome, Type 1
Ehlers-Danlos Syndrome, Gravis Type
Ehlers-Danlos Syndrome, Type 1
Type I Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome Type 2
Ehlers-Danlos Syndrome 1
Eds I, Formerly
Eds1, Formerly
Eds I
Eds1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ehlers-Danlos Syndrome, Classic Type, 1, also known as ehlers-danlos syndrome, type i, is related to ehlers-danlos syndrome, classic type, 2 and ehlers-danlos syndrome, vascular type. An important gene associated with Ehlers-Danlos Syndrome, Classic Type, 1 is COL5A1 (Collagen Type V Alpha 1 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling pathway. Affiliated tissues include skin and bone marrow, and related phenotypes are cigarette-paper scars and recurrent lower respiratory tract infections
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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16
306
180

Medical Symptom

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

Gene & Mutation

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Function
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
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