Cutis Laxa

Alias:
Generalized Elastolysis
Cutis Laxa Syndrome
Dermatomegaly
Dermatolysis
Loose Skin
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cutis Laxa, also known as generalized elastolysis, is related to cutis laxa, autosomal dominant 2 and cutis laxa, autosomal dominant 3, and has symptoms including pruritus An important gene associated with Cutis Laxa is PYCR1 (Pyrroline-5-Carboxylate Reductase 1), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Racepinephrine and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are muscle and cardiovascular system
Related ID:
MESH:D003483
ICD11:1227401566

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
AD
AR
XL
Unknown
1-9/1000000
47
421
11

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
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