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ORPHA:198

Occipital horn syndrome

medium confidenceDisorder

Publications

352

76.3th percentile

Trials

3

Interventional, condition-specific

Researchers

1,099

Distinct authors in sample

Gene link

ATP7A

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder of copper metabolism that is principally characterized by bony exostoses (including the pathognomonic occipital horns), and connective tissue manifestations with cutis laxa and bladder diverticula. Central nervous system involvement is variable.

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 (2)

occipital horn syndrome · occipital horn syndrome, X-linked recessive

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 — ATP7A

  2. LiteraturePresent

    352 matched papers (173 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

    3 matched on ClinicalTrials.gov

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 (ATP7A).

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?

352

352 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.

352 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).

173 in the last 10 years · medium confidence · 76.3th percentile (publications denominator)

Phrase hits: 352 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,099

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
    Kaler SG19 papers · 2026

    Clinical Neuroscience Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  2. 02
    Møller LB10 papers · 2023

    Center for Applied Human Genetics, Kennedy Center, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Denmark. Electronic address: Lisbeth.birk.moeller@regionh.dk.

    Papers in Europe PMC
  3. 03
    Kodama H8 papers · 2022

    Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan. hkodama@med.teikyo-u.ac.jp

    Papers in Europe PMC
  4. 04
    Ferreira CR6 papers · 2023

    Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA.

    Papers in Europe PMC
  5. 05
    Donsante A5 papers · 2013

    Unit on Pediatric Genetics, Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, Bethesda, MD20892-1832, USA.

    Papers in Europe PMC
  6. 06
    Horn N5 papers · 2023

    John F. Kennedy Institute, 2600 Glostrup, Denmark.

    Papers in Europe PMC
  7. 07
    Faundez V4 papers · 2025

    Department of Cell Biology, Emory University, Atlanta, GA 30322, USA; Center for Social Translational Neuroscience, Emory University, Atlanta, GA 30322, USA. Electronic address: vfaunde@emory.edu.

    Papers in Europe PMC
  8. 08
    Kennerson ML4 papers · 2026

    Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, Australia. marinak@anzac.edu.au

    Papers in Europe PMC
  9. 09
    Wang Y4 papers · 2025

    Department of Molecular, Cellular and Developmental Biology, University of Michigan, 1105 North University Avenue, Ann Arbor, MI 48109-1085, USA.

    Papers in Europe PMC
  10. 10
    Yi L4 papers · 2018

    Section on Translational Neuroscience, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-3754, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

medium confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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.

"Occipital horn syndrome" OR "occipital horn syndrome, X-linked recessive"

Run this search on Europe PMC

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

"Occipital horn syndrome" OR "occipital horn syndrome, X-linked recessive" OR "ATP7A"

Recall-expansion terms: ATP7A

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: 3 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 (352) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-26T12:52:22.969Z