General Information of Disease (ID: DISWSHA7)

Disease Name Inherited pseudoxanthoma elasticum
Synonyms inherited PXE; inherited Gronblad Strandberg syndrome
Definition
An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician.|Pathophysiology: In PXE, there is mineralization (accumulation of calcium and other minerals) and fragmentation of the elastin-containing fibers in connective tissue, but primarily in the midlaminar layer of the dermis, Bruch's membrane and the midsized arteries.[12] Recent studies hypothesize that PXE is a metabolic disease, and that its features arise because metabolites of vitamin K cannot reach peripheral tissues
Disease Hierarchy
DIS8WUQG: Pseudoxanthoma elasticum
DISYKSRF: Genetic disease
DISWSHA7: Inherited pseudoxanthoma elasticum
Disease Identifiers
MONDO ID
MONDO_0100091
UMLS CUI
C1274225
MedGen ID
697574
SNOMED CT ID
402782006