ORPHA:221145
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Also known as: ARCL1C · Autosomal recessive cutis laxa type 1C · Urban-Rifkin-Davis syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
45
43.1th percentile
Trials
0
Interventional, condition-specific
Researchers
284
Distinct authors in sample
Gene link
LTBP4
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only).
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:0013170
- MeSH:C567716
- OMIM:613177
- UMLS:C2750804
Additional Mondo synonyms (1)
autosomal recessive cutis laxa type 1C
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 — LTBP4
- LiteraturePresent
45 matched papers (29 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 (LTBP4).
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?
45
45 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.
45 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).
29 in the last 10 years · high confidence · 43.1th percentile (publications denominator)
Phrase hits: 45 · MeSH hits: 0
Who's working on it?
284
Distinct author names in 45 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 Z11 papers · 2026
Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA. urban_z@kids.wustl.edu
Papers in Europe PMC - 02Callewaert B5 papers · 2025
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Papers in Europe PMC - 03Baldock C4 papers · 2022
Wellcome Centre for Cell-Matrix Research, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, UK.
Papers in Europe PMC - 04Davis EC4 papers · 2015
Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, H3A 0C7 Canada.
Papers in Europe PMC - 05Su CT4 papers · 2021
Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, 130 DeSoto Street, Crabtree Hall A300, Pittsburgh, PA 15261, USA.
Papers in Europe PMC - 06Alanazi YF3 papers · 2022
Department of Biochemistry, Faculty of Science, University of Tabuk, Tabuk 71491, Saudi Arabia.
Papers in Europe PMC - 07Beyens A3 papers · 2025
Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium.
Papers in Europe PMC - 08Cain SA3 papers · 2021
Wellcome Trust Centre for Cell-Matrix Research, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, M13 9PT, UK; Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, M13 9PT, UK.
Papers in Europe PMC - 09Dabovic B3 papers · 2015
The Department of Cell Biology, New York University School of Medicine, 550 First Avenue, New York, NY 10016, USA.
Papers in Europe PMC - 10Malfait F3 papers · 2022
Center for Metabolic Diseases, Department of Pediatrics, University Hospitals Leuven, Leuven 3000, Belgium. Fransiska.Malfait@UGent.be.
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.
"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies" OR "ARCL1C" OR "Autosomal recessive cutis laxa type 1C" OR "Urban-Rifkin-Davis syndrome"
MeSH descriptor terms unioned into the query: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies" OR "ARCL1C" OR "Autosomal recessive cutis laxa type 1C" OR "Urban-Rifkin-Davis syndrome" OR "Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities" OR "LTBP4" OR "inherited cutis laxa"
Recall-expansion terms: LTBP4, inherited cutis laxa
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, recall-expansion; with hits: phrase
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 2026-07-27T09:58:05.459Z