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GTR Home > Tests > Abnormal Mineralization Panel

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from GeneReviews

Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Angina pectoris
  • Angioid streaks
  • Restrictive cardiomyopathy
  • Coronary artery atherosclerosis
  • Cutis laxa
  • Gastrointestinal hemorrhage
  • Congestive heart failure
  • Hypertensive disorder
  • Renovascular hypertension
  • Intermittent claudication
  • Macular degeneration
  • Mitral valve prolapse
  • Mitral stenosis
  • Optic disc drusen
  • Retinal hemorrhage
  • Stroke disorder
  • Weak pulse
  • Reduced visual acuity
  • Civatte bodies
  • Choroidal neovascularization
  • Accelerated atherosclerosis
  • Yellow papule
  • Visual impairment
  • Decreased DLCO
  • White oral mucosal macule
  • Retinal peau d'orange
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Conditions tested

Target population

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Not provided

Clinical validity

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This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.

Citations

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Clinical utility

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Not provided

Suggested reading

  • Uitto et al., 2012
    Pseudoxanthoma Elasticum: Progress in Diagnostics and Research Towards Treatment Summary of the 2010 PXE International Research Meeting

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.