1. Diseases
  2. Pseudoxanthoma elasticum

Pseudoxanthoma elasticum

Disease Export to PDF
Name:
Pseudoxanthoma elasticum
Description:
A rare, genetic, metabolic disease with connective tissue and eye involvement, characterized by progressive ectopic mineralization and fragmented elastic fibers in the skin, retina and vascular walls.
ORPHAcode:
758
Synonyms:
Gronblad-Strandberg-Touraine syndrome
PXE
XREF(s):
Orphanet
ICD-10
OMIM
OMIM
MeSH
MedDRA
Analyte(s):
ABCC6
ENPP1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Pseudoxanthoma Elasticum - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC6 100.00 1
    ENPP1 100.00 1
    GGCX 100.00 1
    VEGFA 100.00 1
    CYP2U1 100.00 1