ORPHA:79432
Oculocutaneous albinism type 2
Also known as: OCA2
Publications
192
68.7th percentile
Trials
2
Interventional, condition-specific
Researchers
1,112
Distinct authors in sample
Gene link
MC1R, OCA2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A form of oculocutaneous albinism characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008746
- MeSH:C537730
- OMIM:203200
- UMLS:C0268495
Additional Mondo synonyms (3)
albinism, oculocutaneous, type II, modifier of · oculocutaneous albinism type 2 · oculocutaneous albinism, tyrosinase-positive
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — MC1R, OCA2
- LiteraturePresent
192 matched papers (114 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 trialPresent
2 matched on ClinicalTrials.gov (1 recruiting in sample)
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 (MC1R, OCA2).
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?
192
192 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.
192 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).
114 in the last 10 years · medium confidence · 68.7th percentile (publications denominator)
Phrase hits: 192 · MeSH hits: 7
Who's working on it?
1,112
Distinct author names in 192 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Manga P9 papers · 2024
The Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, NY, USA. prashiela.manga@nyumc.org
Papers in Europe PMC - 02Orlow SJ7 papers · 2013Papers in Europe PMC
- 03Brilliant MH6 papers · 2012
Department of Pediatrics, University of Arizona College of Medicine, Tucson 85724, USA. mhb@peds.arizona.edu
Papers in Europe PMC - 04Li H6 papers · 2023
BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.
Papers in Europe PMC - 05Arveiler B5 papers · 2024
Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, Bordeaux, France.
Papers in Europe PMC - 06Lasseaux E5 papers · 2024
CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
Papers in Europe PMC - 07Sviderskaya EV5 papers · 2024
Molecular Cell Sciences Research Centre, St. George's, University of London, London SW17 0RE, England, UK.
Papers in Europe PMC - 08Wang J5 papers · 2025
BGI-Shenzhen, Shenzhen, China Department of Biology, University of Copenhagen, Copenhagen, Denmark sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
Papers in Europe PMC - 09Zippin JH5 papers · 2024
Department of Dermatology, Weill Cornell Medical College, New York, NY 10021, USA. jhzippin@med.cornell.edu.
Papers in Europe PMC - 10Bennett DC4 papers · 2015
Molecular Cell Sciences Research Centre, St. George's, University of London, London SW17 0RE, England, UK.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 6 trials are registered for oculocutaneous albinism, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
medium confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT05655312·RECRUITING·MC1R-targeted Alpha-particle Monotherapy and Combination Therapy Trial With Nivolumab in Adults With Advanced Melanoma
Conditions: Recurrent Melanoma (Skin) · Metastatic Melanoma · Melanoma Stage IV · Melanoma Stage III·Matched via recall expansion
Broader category: oculocutaneous albinism
6
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
- NCT07313618·RECRUITING·Safety and Efficacy of a Single Suprachoroidal Injection of JWK010 Gene Therapy in Subjects With Oculocutaneous Albinism Type 1 (OCA1)
Conditions: Oculocutaneous Albinism (OCA)·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.
"Oculocutaneous albinism type 2" OR "albinism, oculocutaneous, type II, modifier of" OR "oculocutaneous albinism, tyrosinase-positive"
MeSH descriptor terms unioned into the query: Oculocutaneous albinism type 2
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Oculocutaneous albinism type 2" OR "albinism, oculocutaneous, type II, modifier of" OR "oculocutaneous albinism, tyrosinase-positive" OR "MC1R" OR "OCA2"
Recall-expansion terms: MC1R, OCA2
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"oculocutaneous albinism"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: OCA2
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 2026-07-27T02:24:37.886Z