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ORPHA:758

Pseudoxanthoma elasticum

medium confidenceDisorder

Also known as: Gronblad-Strandberg-Touraine syndrome · PXE

Publications

4,115

94.8th percentile

Trials

18

Interventional, condition-specific

Researchers

948

Distinct authors in sample

Gene link

ABCC6

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, disease with connective tissue and eye involvement, characterized by ectopic mineralization and fragmented elastic fibers in the skin, retina and vascular walls.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

AR inherited pseudoxanthoma elasticum · Gronblad-Strandberg syndrome

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ABCC6

  2. LiteraturePresent

    4,115 matched papers (1,616 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    18 matched on ClinicalTrials.gov (6 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (ABCC6).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

4,115

4,115 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

4,115 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

1,616 in the last 10 years · medium confidence · 94.8th percentile (publications denominator)

Phrase hits: 4,115 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

948

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Pfau K15 papers · 2026

    From the Department of Ophthalmology (K.R, P.H, F.H, K.P), University of Bonn, Bonn, Germany; Department of Ophthalmology (M.P, K.P), University of Basel, Basel, Switzerland. Electronic address: Kristina.Pfau@ukbonn.de.

    Papers in Europe PMC
  2. 02
    Pfau M13 papers · 2026

    Institute of Molecular and Clinical Ophthalmology Basel (M.P), Basel, Switzerland; Department of Ophthalmology (M.P, K.P), University of Basel, Basel, Switzerland.

    Papers in Europe PMC
  3. 03
    Spiering W12 papers · 2026

    Department of Vascular Medicine, University Medical Center Utrecht, Utrecht University, 3508 GA Utrecht, The Netherlands.

    Papers in Europe PMC
  4. 04
    de Jong PA11 papers · 2026

    Department of Radiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.

    Papers in Europe PMC
  5. 05
    Martin L10 papers · 2026

    PXE Reference Center, MAGEC Nord, Angers University Hospital, 49000 Angers, France.

    Papers in Europe PMC
  6. 06
    Holz FG8 papers · 2025

    From the Department of Ophthalmology (K.R, P.H, F.H, K.P), University of Bonn, Bonn, Germany.

    Papers in Europe PMC
  7. 07
    Raming K7 papers · 2025

    From the Department of Ophthalmology (K.R, P.H, F.H, K.P), University of Bonn, Bonn, Germany.

    Papers in Europe PMC
  8. 08
    Leftheriotis G6 papers · 2026

    University Côte d'Azur, CNRS, LP2M, Labex ICST, 06107 Nice, France.

    Papers in Europe PMC
  9. 09
    van Leeuwen R6 papers · 2026

    Ophthalmology Department, University Medical Center Utrecht, Utrecht, the Netherlands.

    Papers in Europe PMC
  10. 10
    Vanakker OM6 papers · 2026

    Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

18

interventional trials for this specific condition

18 interventional trials matched this specific condition name; 6 currently recruiting in our sample.

Data as of 27 July 2026

18 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.1th percentile).

medium confidence · 94.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

18 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

15 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Pseudoxanthoma elasticum" OR "Gronblad-Strandberg-Touraine syndrome" OR "AR inherited pseudoxanthoma elasticum" OR "Gronblad-Strandberg syndrome"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Pseudoxanthoma elasticum" OR "Gronblad-Strandberg-Touraine syndrome" OR "AR inherited pseudoxanthoma elasticum" OR "Gronblad-Strandberg syndrome" OR "ABCC6"

Recall-expansion terms: ABCC6

Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 18 interventional · 15 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PXE

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:14:33.899Z