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ORPHA:79431

Oculocutaneous albinism type 1A

high confidenceSubtype of disorder

Also known as: OCA1A · Tyrosinase-negative oculocutaneous albinism

Publications

424

71.6th percentile

Trials

0

Interventional, condition-specific

Researchers

879

Distinct authors in sample

Gene link

TYR

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — TYR

  2. LiteraturePresent

    424 matched papers (245 in last 10 years) Source

  3. Phenotype characterisedPresent

    56 HPO annotations (e.g. Hypopigmentation of hair; Nystagmus; Strabismus) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

56

Associated phenotypes · MONDO:0008745

  • Hypopigmentation of hair
  • Nystagmus
  • Strabismus
  • Blue irides

Showing 4 of 56 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

424

424 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=3967) is 59.

424 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

245 in the last 10 years · high confidence · 71.6th percentile (publications denominator)

Phrase hits: 252 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Sergeev YV14 papers · 2026

    National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  2. 02
    Tomita Y12 papers · 2005

    Department of Applied Physiology, Tohoku University School of Medicine, Miyagi, Japan.

    Papers in Europe PMC
  3. 03
    Shimizu H11 papers · 2004

    Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  4. 04
    Dolinska MB10 papers · 2026

    National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  5. 05
    King RA9 papers · 2003

    Department of Medicine, University of Minnesota, Minneapolis, Minn. 55455, USA. kingx002@umn.edu

    Papers in Europe PMC
  6. 06
    Matsunaga J8 papers · 2002

    Department of Dermatology, Tohoku University School of Medicine, Sendai, Japan.

    Papers in Europe PMC
  7. 07
    Nishikawa T7 papers · 2000
    Papers in Europe PMC
  8. 08
    Oetting WS7 papers · 2003

    Department of Medicine, University of Minnesota, Minneapolis 55455.

    Papers in Europe PMC
  9. 09
    Summers 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
  10. 10
    Brooks 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Oculocutaneous albinism type 1A — check Associations / patient organisations on that page.

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 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 syndrome" OR "TYR-related")

Run this search on Europe PMC

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"

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: ok — strategies attempted: phrase; 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