RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:90348

Autosomal dominant cutis laxa

medium confidenceDisorder

Also known as: ADCL

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

131

54th percentile

Trials

0

Interventional, condition-specific

Researchers

902

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

cutis laxa, autosomal dominant

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    131 matched papers (78 in last 10 years) Source

  3. Phenotype characterisedPresent

    114 HPO annotations (e.g. Increased number of skin folds; Fragmented elastic fibers in the dermis; Premature skin wrinkling) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 3 for broader category cutis laxa

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

114

Associated phenotypes · MONDO:0019571

  • Increased number of skin folds
  • Fragmented elastic fibers in the dermis
  • Premature skin wrinkling
  • Inguinal hernia
  • Mitral regurgitation

Showing 5 of 114 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

131

131 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

131 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

78 in the last 10 years · medium confidence · 54th percentile (publications denominator)

Phrase hits: 131 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

902

Distinct author names in 131 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Urban Z18 papers · 2017

    Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, United States. Electronic address: urbanz@pitt.edu.

    Papers in Europe PMC
  2. 02
    Davis EC9 papers · 2022

    Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, H3A 0C7 Canada.

    Papers in Europe PMC
  3. 03
    Kozel BA8 papers · 2025

    Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.

    Papers in Europe PMC
  4. 04
    Mecham RP8 papers · 2018

    Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA.

    Papers in Europe PMC
  5. 05
    Knutsen RH6 papers · 2025

    National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  6. 06
    Callewaert B5 papers · 2022

    Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium. Electronic address: bert.callewaert@ugent.be.

    Papers in Europe PMC
  7. 07
    Coucke PJ5 papers · 2017
    Papers in Europe PMC
  8. 08
    Hucthagowder V5 papers · 2017

    Department of Pediatrics, Washington University School of Medicine, 660 South Euclid Avenue, Campus Box 8208, St Louis, MO 63110, USA.

    Papers in Europe PMC
  9. 09
    Kornak U5 papers · 2015

    Institut fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, 13353 Berlin, Germany; FG Development & Disease, Max-Planck-Institut fuer Molekulare Genetik, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitaetsmedizin Berlin, 13353 Berlin, Germany. Electronic address: uwe.kornak@charite.de.

    Papers in Europe PMC
  10. 10
    Silverman EK5 papers · 2026

    Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 3 trials are registered for cutis laxa, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

3 interventional trials matched cutis laxa, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: cutis laxa

3

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 19 · after dedupe 19 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 19 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (19)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Autosomal dominant cutis laxa — check Associations / patient organisations on that page.

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.

"Autosomal dominant cutis laxa" OR "cutis laxa, autosomal dominant"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Cutis Laxa, Autosomal Dominant

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

"Autosomal dominant cutis laxa" OR "cutis laxa, autosomal dominant"

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

Parent-category trials query:

"cutis laxa"

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ADCL

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 2026-07-27T03:45:43.953Z