ORPHA:79431
Oculocutaneous albinism type 1A
Also known as: OCA1A · Tyrosinase-negative oculocutaneous albinism
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
252
69.5th percentile
Trials
0
Interventional, condition-specific
Researchers
879
Distinct authors in sample
Gene link
TYR
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A severe form of oculocutaneous albinism type 1 (OCA1) characterized by complete absence of melanin and manifesting as white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.
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:0008745
- OMIM:203100
- UMLS:C4551504
- NCIT:C168731
Additional Mondo synonyms (6)
TYR oculocutaneous albinism · Tyr oculocutaneous albinism · oculocutaneous albinism caused by mutation in TYR · oculocutaneous albinism caused by mutation in Tyr · oculocutaneous albinism, tyrosinase-negative · tyrosinase-negative 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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — TYR
- LiteraturePresent
252 matched papers (120 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; 6 for broader category oculocutaneous albinism
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 (TYR).
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?
252
252 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.
252 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).
120 in the last 10 years · high confidence · 69.5th percentile (publications denominator)
Phrase hits: 252 · MeSH hits: 0
Who's working on it?
879
Distinct author names in 200 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.
- 01Sergeev YV14 papers · 2026
National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Papers in Europe PMC - 02Tomita Y12 papers · 2005
Department of Applied Physiology, Tohoku University School of Medicine, Miyagi, Japan.
Papers in Europe PMC - 03Shimizu H11 papers · 2004
Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
Papers in Europe PMC - 04Dolinska MB10 papers · 2026
National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Papers in Europe PMC - 05King RA9 papers · 2003
Department of Medicine, University of Minnesota, Minneapolis, Minn. 55455, USA. kingx002@umn.edu
Papers in Europe PMC - 06Matsunaga J8 papers · 2002
Department of Dermatology, Tohoku University School of Medicine, Sendai, Japan.
Papers in Europe PMC - 07Nishikawa T7 papers · 2000Papers in Europe PMC
- 08Oetting WS7 papers · 2003
Department of Medicine, University of Minnesota, Minneapolis 55455.
Papers in Europe PMC - 09Summers CG7 papers · 2021
Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota, USA; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
Papers in Europe PMC - 10Brooks BP5 papers · 2026
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD, USA.
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). 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
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.
6 interventional trials matched oculocutaneous albinism, the broader category — listed below. Those studies are not counted in the condition-specific total.
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 1A" OR "OCA1A" OR "Tyrosinase-negative oculocutaneous albinism" OR "TYR oculocutaneous albinism" OR "oculocutaneous albinism caused by mutation in TYR" OR "oculocutaneous albinism, tyrosinase-negative"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Oculocutaneous albinism type 1A" OR "OCA1A" OR "Tyrosinase-negative oculocutaneous albinism" OR "TYR oculocutaneous albinism" OR "oculocutaneous albinism caused by mutation in TYR" OR "oculocutaneous albinism, tyrosinase-negative" OR "TYR"
Recall-expansion terms: TYR
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"oculocutaneous albinism"
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 2026-07-27T02:24:23.614Z