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ORPHA:79434

Oculocutaneous albinism type 1B

high confidenceSubtype of disorder

Also known as: OCA1B · Oculocutaneous albinism, Amish type · Platinum oculocutaneous albinism · Yellow oculocutaneous albinism

Publications

683

81.9th percentile

Trials

0

Interventional, condition-specific

Researchers

1,038

Distinct authors in sample

Gene link

TYR

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of oculocutaneous albinism type 1 (OCA1) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment 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 (3)

albinism, Yellow mutant type · oculocutaneous albinism, Amish type · platinum 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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — TYR

  2. LiteraturePresent

    683 matched papers (440 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Hypopigmentation of hair; Nystagmus; Albinism) 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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: Strong.

Phenotypes (Monarch / HPO)

24

Associated phenotypes · MONDO:0011749

  • Hypopigmentation of hair
  • Nystagmus
  • Albinism
  • Hypopigmentation of the skin
  • Photophobia

Showing 5 of 24 — 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?

683

683 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

683 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).

440 in the last 10 years · high confidence · 81.9th percentile (publications denominator)

Phrase hits: 512 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

1,038

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 YV15 papers · 2026

    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Dr., 31 Center Drive MSC 2510, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  2. 02
    Dolinska MB11 papers · 2026

    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 31 Center Drive MSC 2510, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  3. 03
    Kumar S7 papers · 2026

    Plant Molecular Virology, CSIR-National Botanical Research Institute, Rana Pratap Marg, Lucknow 226001, Uttar Pradesh, India.

    Papers in Europe PMC
  4. 04
    Akram M6 papers · 2026

    Division of Crop Protection, ICAR-Indian Institute of Pulses Research, Kanpur, 208024, India.

    Papers in Europe PMC
  5. 05
    Brooks BP6 papers · 2026

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

    Papers in Europe PMC
  6. 06
    Sirari A6 papers · 2025

    Department of Plant Breeding and Genetics, Punjab Agricultural University, Ludhiana, Punjab 141004 India.

    Papers in Europe PMC
  7. 07
    Chakraborty S5 papers · 2026

    Molecular Virology Laboratory, School of Life Sciences, Jawaharlal Nehru University, New Delhi, 110 067, India. supriyachakrasls@yahoo.com.

    Papers in Europe PMC
  8. 08
    Gupta S5 papers · 2025
    Papers in Europe PMC
  9. 09
    Kumar D5 papers · 2026

    Molecular Virology Laboratory, School of Life Sciences, Jawaharlal Nehru University, New Delhi, 110067 India.

    Papers in Europe PMC
  10. 10
    Pratap A5 papers · 2026

    Crop Improvement Division, ICAR-Indian Institute of Pulses Research, Kanpur 208 024, India.

    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).

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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 1B — 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 1B" OR "OCA1B" OR "Oculocutaneous albinism, Amish type" OR "Platinum oculocutaneous albinism" OR "Yellow oculocutaneous albinism" OR "albinism, Yellow mutant type") OR (MESH:"Oculocutaneous albinism type 1B") OR ("TYR syndrome" OR "TYR-related")

Run this search on Europe PMC

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

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

"Oculocutaneous albinism type 1B" OR "OCA1B" OR "Oculocutaneous albinism, Amish type" OR "Platinum oculocutaneous albinism" OR "Yellow oculocutaneous albinism" OR "albinism, Yellow mutant type"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 2026-07-27T02:25:13.457Z