ORPHA:90349
Autosomal recessive cutis laxa type 1
Also known as: ARCL1 · Autosomal recessive cutis laxa with severe systemic involvement · Autosomal recessive cutis laxa, pulmonary emphysema type
Publications
47
38.6th percentile
Trials
0
Interventional, condition-specific
Researchers
364
Distinct authors in sample
Gene link
EFEMP1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019572
- MeSH:C536225
- UMLS:C0268351
Additional Mondo synonyms (3)
autosomal recessive cutis laxa type 1 · autosomal recessive cutis laxa with severe systemic involvement · autosomal recessive cutis laxa, pulmonary emphysema type
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.
- Gene identifiedPresent
Strong — EFEMP1
- LiteraturePresent
47 matched papers (22 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
Yes — we know a specific gene responsible (EFEMP1).
GenCC classification: Strong.
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?
47
47 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=5449) is 41.
47 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).
22 in the last 10 years · high confidence · 38.6th percentile (publications denominator)
Phrase hits: 46 · MeSH hits: 1
Who's working on it?
364
Distinct author names in 47 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.
- 01Urban Z8 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 - 02Callewaert B6 papers · 2025
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Papers in Europe PMC - 03Kornak U6 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 - 04Davis EC5 papers · 2014
Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, H3A 0C7 Canada.
Papers in Europe PMC - 05Hucthagowder V4 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 - 06Morava E4 papers · 2017
Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, Gelderland 9102-6500, The Netherlands. emoravakozicz@tulane.edu.
Papers in Europe PMC - 07Beyens A3 papers · 2025
Center for Medical Genetics Ghent, Department of Dermatology, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium.
Papers in Europe PMC - 08Coucke PJ3 papers · 2013Papers in Europe PMC
- 09Gardeitchik T3 papers · 2017
Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, Gelderland 9102-6500, The Netherlands. Thatjana.Gardeitchik@radboudumc.nl.
Papers in Europe PMC - 10Symoens S3 papers · 2025
Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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
- NCT07614997·RECRUITING·Effectiveness and Safety of the Ulthera® System for Skin Laxity in the Lower Face, Submentum and Neck
Conditions: Cutis Laxa·Matched via name phrase
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 2026-07-26This 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 recessive cutis laxa type 1" OR "ARCL1" OR "Autosomal recessive cutis laxa with severe systemic involvement" OR "Autosomal recessive cutis laxa, pulmonary emphysema type"
MeSH descriptor terms unioned into the query: Cutis laxa, recessive
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive cutis laxa type 1" OR "ARCL1" OR "Autosomal recessive cutis laxa with severe systemic involvement" OR "Autosomal recessive cutis laxa, pulmonary emphysema type" OR "Cutis laxa, recessive" OR "EFEMP1" OR "inherited cutis laxa" OR "autosomal genetic disease"
Recall-expansion terms: EFEMP1, inherited cutis laxa, autosomal genetic disease
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: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T03:45:53.042Z