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ORPHA:352731

Oculocutaneous albinism type 1

medium confidenceDisorder

Also known as: OCA1

Publications

179

68.8th percentile

Trials

1

Interventional, condition-specific

Researchers

1,025

Distinct authors in sample

Gene link

TYR

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigementation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

oculocutaneous albinism type 1

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.

  1. Gene identifiedPresent

    Definitive — TYR

  2. LiteraturePresent

    179 matched papers (115 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 trialPresent

    1 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 (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?

179

179 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.

179 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).

115 in the last 10 years · medium confidence · 68.8th percentile (publications denominator)

Phrase hits: 179 · MeSH hits: 7

Open Europe PMC search

Who's working on it?

1,025

Distinct author names in 179 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.

  1. 01
    Sergeev YV18 papers · 2026

    National Eye Institute, NIH, Bethesda, Maryland, United States of America.

    Papers in Europe PMC
  2. 02
    Dolinska MB14 papers · 2026

    National Eye Institute, NIH, Bethesda, Maryland, United States of America.

    Papers in Europe PMC
  3. 03
    Arveiler B9 papers · 2026

    CHU Bordeaux, Bordeaux, F-33404, France.

    Papers in Europe PMC
  4. 04
    Lasseaux E6 papers · 2026

    Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.

    Papers in Europe PMC
  5. 05
    Michaud V6 papers · 2026

    Service de génétique médicale, CHU de Bordeaux, Bordeaux, France.

    Papers in Europe PMC
  6. 06
    Summers CG6 papers · 2024

    Department of Ophthalmology & Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota, United States.

    Papers in Europe PMC
  7. 07
    Wingfield PT6 papers · 2020

    National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland, United States of America.

    Papers in Europe PMC
  8. 08
    Brooks BP5 papers · 2022

    National Eye Institute, NIH, Bethesda, Maryland, United States of America.

    Papers in Europe PMC
  9. 09
    Hearing VJ5 papers · 2014

    Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  10. 10
    Javerzat S5 papers · 2026

    Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University INSERM U1211, Bordeaux, France.

    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; 1 currently recruiting in our sample. 5 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.

Broader category: oculocutaneous albinism

5

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.

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

This 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 1"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Oculocutaneous albinism type 1

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

"Oculocutaneous albinism type 1" OR "TYR"

Recall-expansion terms: TYR

Interventional trials matched via: both (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, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: OCA1

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 2026-07-27T14:21:06.456Z