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Pseudoxanthoma elasticum (inherited or acquired)

MONDO:0024308

An inherited disorder 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.

Also known as: PXE, pseudoxanthoma elasticum

5 clinical trials for this condition and its sub-types.

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Sub-types

Autosomal recessive inherited pseudoxanthoma elasticum (5) Acquired pseudoxanthoma elasticum (0) Inherited pseudoxanthoma elasticum (0) Pseudoxanthoma elasticum, forme fruste (0)

Broader categories

Disease (618) Human disease (14) Disease by body system or component (0) Integumentary system disorder (0)
Trials to join now! 4 Completed 1
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  • Rare disease mystery: scientists track GACI and ARHR2 to unlock clues

    Knowledge-focused Completed

    This completed study looked at the natural course of two ultra-rare genetic disorders: GACI and ARHR2. Researchers collected medical records and blood samples from 48 affected individuals and their family members. The goal was to better understand how these diseases progress over…

    Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused

    Last updated Jun 27, 2026 14:00 UTC

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