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Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

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Name:
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Description:
A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps.
ORPHAcode:
436274
Synonyms:
PXE-like syndrome with retinitis pigmentosa
XREF(s):
Orphanet
Analyte(s):
GGCX
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