RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:2719

Oculocerebral hypopigmentation syndrome, Cross type

medium confidenceDisorder

Also known as: Cross syndrome

Publications

454

74.2th percentile

Trials

56

Interventional, condition-specific

Researchers

1,012

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Oculocerebral hypopigmentation syndrome, Cross type is a rare syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

Oculocerebral Syndrome with Hypopigmentation

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    454 matched papers (281 in last 10 years) Source

  3. Phenotype characterisedPresent

    53 HPO annotations (e.g. Dandy-Walker malformation; Growth delay; Athetosis) 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 trialPresent

    56 matched on ClinicalTrials.gov (22 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

53

Associated phenotypes · MONDO:0009767

  • Dandy-Walker malformation
  • Growth delay
  • Athetosis
  • Intellectual disability
  • Hypopigmentation of the skin

Showing 5 of 53 — 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?

454

454 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.

454 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).

281 in the last 10 years · medium confidence · 74.2th percentile (publications denominator)

Phrase hits: 454 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,012

Distinct author names in 200 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
    LeDoux MS5 papers · 2024

    Department of Psychology, University of Memphis, Memphis TN and Veracity Neuroscience LLC, Memphis, Tennessee, United States of America.

    Papers in Europe PMC
  2. 02
    Asada K4 papers · 2025

    Faculty of Sociology, Toyo University, Tokyo, Japan.

    Papers in Europe PMC
  3. 03
    Hakuno Y4 papers · 2025

    Global Research Institute, Keio University, Tokyo, Japan.

    Papers in Europe PMC
  4. 04
    Hirai M4 papers · 2025

    Department of Cognitive and Psychological Sciences, Graduate School of Informatics, Nagoya University, Furo-cho, Chikusa-ku, 464-8601, Nagoya, Japan. hirai@i.nagoya-u.ac.jp.

    Papers in Europe PMC
  5. 05
    Ikeda A4 papers · 2025

    Department of Psychology, Senshu University, Kanagawa, Japan.

    Papers in Europe PMC
  6. 06
    Ikeda T4 papers · 2025

    Department of Pediatrics, Jichi Medical University, Tochigi, Japan.

    Papers in Europe PMC
  7. 07
    Kato T4 papers · 2025

    Faculty of Rehabilitation, Kansai Medical University, Hirakata, Osaka, Japan.

    Papers in Europe PMC
  8. 08
    Moss T4 papers · 2023

    Laboratory of Growth and Development, St-Patrick Research Group in Basic Oncology, Cancer Division of the Quebec University Hospital Research Centre, Québec, Canada.

    Papers in Europe PMC
  9. 09
    Yamagata T4 papers · 2025

    Department of Pediatrics, Jichi Medical University, Tochigi, Japan.

    Papers in Europe PMC
  10. 10
    Alfieri P3 papers · 2022

    Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00153 Rome, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

56

interventional trials for this specific condition

56 interventional trials matched this specific condition name; 22 currently recruiting in our sample.

Data as of 11 September 2026

56 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.4th percentile).

medium confidence · 97.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

56 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

4 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (40)

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 Oculocerebral hypopigmentation syndrome, Cross type — 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.

"Oculocerebral hypopigmentation syndrome, Cross type" OR "Cross syndrome" OR "Oculocerebral Syndrome with Hypopigmentation"

Run this search on Europe PMC

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

"Oculocerebral hypopigmentation syndrome, Cross type" OR "Cross syndrome" OR "Oculocerebral Syndrome with Hypopigmentation"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 56 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

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
  • Publication count (454) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-26T20:58:02.707Z