autosomal recessive inherited pseudoxanthoma elasticum
MONDO:0009925
An autosomal recessive form of PXE.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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Pseudoxanthoma elasticum
Pseudoxanthoma elasticum (PXE) is a genetic disease that causes mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis. PXE is caused by autosomal recessive mutations in the ABCC6 gene on the short arm of chromosome 16 (16p13.1).
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.