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ORPHA:627

Nance-Horan syndrome

high confidenceDisorder

Publications

457

73.5th percentile

Trials

0

Interventional, condition-specific

Researchers

1,266

Distinct authors in sample

Gene link

NHS

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare X-linked multiple anomalies/ syndrome characterized by cataracts with microcornea, dental anomalies, and facial dysmorphism.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

nance-horan syndrome, X-linked dominant

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 matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — NHS

  2. LiteraturePresent

    457 matched papers (273 in last 10 years) Source

  3. Phenotype characterisedPresent

    42 HPO annotations (e.g. Cataract; Prominent nose; Microcornea) Source

  4. Animal modelPresent

    6 genotype models (Mus musculus) Source

  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 (NHS).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

42

Associated phenotypes · MONDO:0010545

  • Cataract
  • Prominent nose
  • Microcornea
  • Microphthalmia
  • Nystagmus

Showing 5 of 42 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

Model associations linked to this Mondo ID

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?

457

457 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.

457 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).

273 in the last 10 years · high confidence · 73.5th percentile (publications denominator)

Phrase hits: 317 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,266

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
    Wang Y8 papers · 2026

    Department of Pathology, the First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China.

    Papers in Europe PMC
  2. 02
    Li J7 papers · 2025

    Eye Center, Second Affiliated Hospital of Medical College, Zhejiang University, Hangzhou, Zhejiang, China.

    Papers in Europe PMC
  3. 03
    Craig JE6 papers · 2021

    Department of Ophthalmology, Flinders University, Bedford Park, SA, Australia.

    Papers in Europe PMC
  4. 04
    Krause M6 papers · 2025

    Randall Centre for Cell and Molecular Biophysics, King's College London, New Hunt's House, Guy's Campus, London, SE1 1UL, UK.

    Papers in Europe PMC
  5. 05
    Sharma S6 papers · 2017

    Department of Ophthalmology, Flinders University, Bedford Park, SA 5042, Australia. shiwani.sharma@flinders.edu.au

    Papers in Europe PMC
  6. 06
    Brooks SP5 papers · 2010

    1UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK.

    Papers in Europe PMC
  7. 07
    Hardcastle AJ5 papers · 2010
    Papers in Europe PMC
  8. 08
    Wu J5 papers · 2025

    Department of Ophthalmology and the Eye Institute, Eye and Ear, Nose, and Throat Hospital, Fudan University, 83 Fenyang Rd, Shanghai, People's Republic of China.

    Papers in Europe PMC
  9. 09
    Zhao Y5 papers · 2025

    Department of Translational Medicine Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000 People's Republic of China.

    Papers in Europe PMC
  10. 10
    Burdon KP4 papers · 2021

    Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.

    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 2026-07-29

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).

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 Nance-Horan syndrome — 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.

("Nance-Horan syndrome" OR "nance-horan syndrome, X-linked dominant") OR ("NHS syndrome" OR "NHS-related")

Run this search on Europe PMC

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

"Nance-Horan syndrome" OR "nance-horan syndrome, X-linked dominant"

Study-type breakdown: 0 interventional · 0 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

Ingested 2026-07-26T14:37:00.995Z