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autosomal recessive inherited pseudoxanthoma elasticum

Disease Summary
Associated Targets (6)
Tbio

3

Tchem

2

Tclin

1


Explore Associated Targets
Mondo Description An autosomal recessive form of PXE.
Uniprot Description A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings.
Disease Ontology Description A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.
Mondo Term and Equivalent IDs
MONDO:0009925:  autosomal recessive inherited pseudoxanthoma elasticum
MESH:D011561: 
NCIT:C85036: 
Orphanet:758: 
SCTID:402782006: 
SCTID:72744008: 
UMLS:C0033847: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)