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GTR Home > Conditions/Phenotypes > Autosomal recessive inherited pseudoxanthoma elasticum

Autosomal recessive inherited pseudoxanthoma elasticum

Synonyms
Gronblad Strandberg syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Pseudoxanthoma Elasticum
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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Sharon F Terry
Jouni Uitto
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Available tests

64 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (64 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABC34, ARA, EST349056, GACI2, MLP1, MOAT-E, MOATE, MRP6, PXE, PXE1, URG7, ABCC6
    Summary: ATP binding cassette subfamily C member 6

  • Also known as: DBQD2, PXYLT1, XT-I, XT1, XTI, XYLTI, xylT-I, XYLT1
    Summary: xylosyltransferase 1

  • Also known as: PXYLT2, SOS, XT-II, XT2, xylT-II, XYLT2
    Summary: xylosyltransferase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Suggested reading

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

Clinical resources

Molecular resources

Consumer resources

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