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ORPHA:357058

Autosomal recessive cutis laxa type 2A

high confidenceDisorder

Also known as: ARCL2A

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

Publications

87

54.3th percentile

Trials

0

Interventional, condition-specific

Researchers

552

Distinct authors in sample

Gene link

ATP6V0A2

Definitive

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, , mild to moderate , late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include , , hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.

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 (9)

autosomal recessive cutis laxa type 2A · cutis laxa with Joint laxity and retarded development · cutis laxa with bone dystrophy · cutis laxa with congenital disorder of glycosylation · cutis laxa with growth and developmental delay · cutis laxa, autosomal recessive type 2A · cutis laxa, autosomal recessive, type 2A · cutis laxa, autosomal recessive, type IIA · cutis laxa, debre 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.”

2/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — ATP6V0A2

  2. LiteraturePresent

    87 matched papers (53 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (ATP6V0A2).

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?

87

87 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.

87 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).

53 in the last 10 years · high confidence · 54.3th percentile (publications denominator)

Phrase hits: 87 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

552

Distinct author names in 87 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
    Kornak U11 papers · 2024

    1] Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany [2] FG Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.

    Papers in Europe PMC
  2. 02
    Morava E10 papers · 2018

    Department of Paediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. E.Morava@cukz.umcn.nl

    Papers in Europe PMC
  3. 03
    Mundlos S7 papers · 2023

    Institut für medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.

    Papers in Europe PMC
  4. 04
    Gardeitchik T5 papers · 2017

    Department of Pediatrics, Institute for Metabolic and Genetic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.

    Papers in Europe PMC
  5. 05
    Urban Z5 papers · 2015

    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
  6. 06
    Wevers RA5 papers · 2017

    Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands. Electronic address: ron.wevers@radboudumc.nl.

    Papers in Europe PMC
  7. 07
    Davis EC4 papers · 2015

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

    Papers in Europe PMC
  8. 08
    Fischer-Zirnsak B4 papers · 2024

    Institute of Medical Genetics and Human Genetics, Charité - Universitaetsmedizin Berlin, Berlin 13353, Germany; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany.

    Papers in Europe PMC
  9. 09
    Jaeken J4 papers · 2018

    Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, Leuven, B-3000, Belgium.

    Papers in Europe PMC
  10. 10
    Lefeber DJ4 papers · 2017

    Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Department of Neurology, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.

    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).

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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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

Likely covered — the policy lists Osteogenesis imperfecta as a category (Group 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 2 — long-term / lifelong lower-cost interventions

NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.

Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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 2A" OR "ARCL2A" OR "cutis laxa with Joint laxity and retarded development" OR "cutis laxa with bone dystrophy" OR "cutis laxa with congenital disorder of glycosylation" OR "cutis laxa with congenital disorder of the glycosylation" OR "cutis laxa with growth and developmental delay" OR "cutis laxa, autosomal recessive type 2A" OR "cutis laxa, autosomal recessive, type 2A" OR "cutis laxa, autosomal recessive, type IIA" OR "cutis laxa, debre type"

Run this search on Europe PMC

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

"Autosomal recessive cutis laxa type 2A" OR "ARCL2A" OR "cutis laxa with Joint laxity and retarded development" OR "cutis laxa with bone dystrophy" OR "cutis laxa with congenital disorder of glycosylation" OR "cutis laxa with congenital disorder of the glycosylation" OR "cutis laxa with growth and developmental delay" OR "cutis laxa, autosomal recessive type 2A" OR "cutis laxa, autosomal recessive, type 2A" OR "cutis laxa, autosomal recessive, type IIA" OR "cutis laxa, debre type" OR "ATP6V0A2" OR "autosomal recessive cutis laxa type 2" OR "inherited cutis laxa"

Recall-expansion terms: ATP6V0A2, autosomal recessive cutis laxa type 2, inherited cutis laxa

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

Query health: suspect — strategies attempted: phrase, 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 2026-07-27T14:31:20.912Z