ORPHA:79433
Oculocutaneous albinism type 3
Also known as: OCA3 · Red oculocutaneous albinism · Rufous oculocutaneous albinism · Xanthous oculocutaneous albinism
Publications
122
60.9th percentile
Trials
1
Interventional, condition-specific
Researchers
773
Distinct authors in sample
Gene link
TYRP1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008747
- MeSH:C537731
- OMIM:203290
- OMIM:278400
- UMLS:C0342683
Additional Mondo synonyms (5)
TYRP1 oculocutaneous albinism · oculocutaneous albinism caused by mutation in TYRP1 · oculocutaneous albinism type 3 · rufous oculocutaneous albinism · xanthous oculocutaneous albinism
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 — TYRP1
- LiteraturePresent
122 matched papers (73 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
1 matched on ClinicalTrials.gov
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 (TYRP1).
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?
122
122 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.
122 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).
73 in the last 10 years · medium confidence · 60.9th percentile (publications denominator)
Phrase hits: 122 · MeSH hits: 0
Who's working on it?
773
Distinct author names in 122 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.
- 01Dolinska MB5 papers · 2026
National Eye Institute, National Institutes of Health, Bethesda, Maryland.
Papers in Europe PMC - 02Liu Y5 papers · 2025
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 03Sergeev YV5 papers · 2026
National Eye Institute, National Institutes of Health, Bethesda, Maryland.
Papers in Europe PMC - 04Boissy RE4 papers · 2013Papers in Europe PMC
- 05Manga P4 papers · 2013
Department of Dermatology, University of Cincinnati, PO Box 670592, Cincinnati, OH 45267-0592, USA.
Papers in Europe PMC - 06Brooks BP3 papers · 2022
National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA. brooksb@mail.nih.gov
Papers in Europe PMC - 07Ferreira PA3 papers · 2011
Departments of Ophthalmology, Duke University Medical Center, Erwin Road, Durham, NC 27710, USA. ferre044@mc.duke.edu
Papers in Europe PMC - 08Hearing VJ3 papers · 2014Papers in Europe PMC
- 09Jenkins T3 papers · 2001Papers in Europe PMC
- 10Kromberg JG3 papers · 1997
MRC Ecogenetics Unit, Department of Human Genetics, School of Pathology, SA Institute for Medical Research, Johannesburg, South Africa.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 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
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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 3" OR "Red oculocutaneous albinism" OR "Rufous oculocutaneous albinism" OR "Xanthous oculocutaneous albinism" OR "TYRP1 oculocutaneous albinism" OR "oculocutaneous albinism caused by mutation in TYRP1"
MeSH descriptor terms unioned into the query: [OBSOLETE] Oculocutaneous albinism type 3
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Oculocutaneous albinism type 3" OR "Red oculocutaneous albinism" OR "Rufous oculocutaneous albinism" OR "Xanthous oculocutaneous albinism" OR "TYRP1 oculocutaneous albinism" OR "oculocutaneous albinism caused by mutation in TYRP1" OR "[OBSOLETE] Oculocutaneous albinism type 3" OR "TYRP1"
Recall-expansion terms: TYRP1
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: 1 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, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: OCA3
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 2026-07-27T02:24:46.872Z