ORPHA:357074
Autosomal recessive cutis laxa type 2, classic type
Also known as: ARCL2, Debré type · ARCL2, classic type · Autosomal recessive cutis laxa type 2, Debré type
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Is anyone studying this?
1
1 paper have ever been indexed 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=183) is 38.
1 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
0 in the last 10 years · high confidence · 2.5th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
3
trials for cutis laxa, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (ATP6V0A2).
GenCC classification: Strong.
Who's working on it?
25
Distinct author names in 1 sampled paper — 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.
- 01Alanay Y1 paper · 2012Papers in Europe PMC
- 02Berry-Kravis E1 paper · 2012Papers in Europe PMC
- 03Daumer-Haas C1 paper · 2012Papers in Europe PMC
- 04Desphande C1 paper · 2012Papers in Europe PMC
- 05Dimopoulou A1 paper · 2012Papers in Europe PMC
- 06Egerer J1 paper · 2012Papers in Europe PMC
- 07Felix E1 paper · 2012Papers in Europe PMC
- 08Fischer B1 paper · 2012
Institut fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC - 09Gardeitchik T1 paper · 2012Papers in Europe PMC
- 10Gupta N1 paper · 2012Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 — see the summary above. Those studies are not counted in the condition-specific total.
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 below but are not added to the query string.
"Autosomal recessive cutis laxa type 2, classic type" OR "ARCL2, Debré type" OR "ARCL2, classic type" OR "Autosomal recessive cutis laxa type 2, Debré type" OR "autosomal recessive cutis laxa type 2, Debre type"
MeSH descriptor terms unioned into the query: Cutis Laxa, Autosomal Recessive, Type IIA
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive cutis laxa type 2, classic type" OR "ARCL2, Debré type" OR "ARCL2, classic type" OR "Autosomal recessive cutis laxa type 2, Debré type" OR "autosomal recessive cutis laxa type 2, Debre type" OR "Cutis Laxa, Autosomal Recessive, Type IIA" OR "ATP6V0A2" OR "inherited cutis laxa"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C562632 UMLS:C5679922
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