Pseudoxanthoma Elasticum (PXE)

Alias:
Pxe
Gronblad-Strandberg Syndrome
Gronblad-Strandberg-Touraine Syndrome
Pseudoxanthoma Elasticum, Modifier of Severity of
Pxe - [pseudoxanthoma Elasticum]
Groenblad-Strandberg Syndrome
Nevus Elasticus
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pseudoxanthoma Elasticum, also known as pxe, is related to arterial calcification of infancy and angioid streaks, and has symptoms including angina pectoris An important gene associated with Pseudoxanthoma Elasticum is ABCC6 (ATP Binding Cassette Subfamily C Member 6), and among its related pathways/superpathways are Glucose / Energy Metabolism and Endochondral ossification with skeletal dysplasias. The drugs Dexlansoprazole and Lansoprazole have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are retinopathy and thickened nuchal skin fold
Related ID:
MESH:D011561
ICD11:1516160852

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
1-9/100000
42
329
118

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
No Data Found!
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