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ORPHA:198

Occipital horn syndrome

low confidenceDisorder

Publications

5,040

Trials

2

Interventional, condition-specific

Researchers

1,056

Distinct authors in sample

Gene link

ATP7A

Definitive

Readiness

4/6

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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ATP7A

  2. LiteraturePresent

    5,040 matched papers (3,315 in last 10 years) Source

  3. Phenotype characterisedPresent

    116 HPO annotations (e.g. Large fontanelles; Delayed cranial suture closure; Abnormality of the face) 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

    2 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)

116

Associated phenotypes · MONDO:0010572

  • Large fontanelles
  • Delayed cranial suture closure
  • Abnormality of the face
  • Abnormal skull morphology
  • Hyperextensible skin

Showing 5 of 116 — 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

2

Drugs / clinical candidates · MONDO_0010572

CTD chemicals (MyDisease.info)

1 associated chemical · 11 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Copper · marker/mechanism

Pathways: Platinum drug resistance; Mineral absorption; Innate Immune System; Immune System; Cellular responses to stress; Detoxification of Reactive Oxygen Species; Transmembrane transport of small molecules; Antimicrobial peptides

MyDisease.info · MONDO:0010572

Literature

Is anyone studying this?

5,040

5,040 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,040 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).

3,315 in the last 10 years · low confidence

Phrase hits: 352 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,056

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
    Zhang J11 papers · 2026

    Department of Oral and Maxillofacial Surgery, Hospital of Stomatology, Guanghua School of Stomatology, Sun Yat-sen University, 56 Lingyuan Road West, Guangzhou 510055, China; Guangdong Provincial Key Laboratory of Stomatology, Guanghua School of Stomatology, Sun Yat-sen University, Guangzhou 510080, China.

    Papers in Europe PMC
  2. 02
    Liu Y10 papers · 2026

    Basic and Translational Research Center, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310009, China.

    Papers in Europe PMC
  3. 03
    Wang Y10 papers · 2026

    Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.

    Papers in Europe PMC
  4. 04
    Yang Y9 papers · 2026

    Department of Neurology, The First Affiliated Hospital of Harbin Medical University, No. 23, Postal Street, Nangang District, Harbin, 150001, Heilongjiang, China.

    Papers in Europe PMC
  5. 05
    Zhang X8 papers · 2026

    Department of Medical Technology, Zhengzhou Railway Vocational and Technical College, Zhengzhou, China.

    Papers in Europe PMC
  6. 06
    Chen Y7 papers · 2026

    Department of Breast Surgery, General Surgery Center, First Hospital of Jilin University, Changchun, China.

    Papers in Europe PMC
  7. 07
    Li X7 papers · 2026

    School of Computer and Big Data Science, Jiujiang University, Jiujiang, China.

    Papers in Europe PMC
  8. 08
    Petris MJ7 papers · 2026

    Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, Missouri, USA.

    Papers in Europe PMC
  9. 09
    Wang J7 papers · 2026

    Department of Cardiovascular Surgery, Institute of Chronic Diseases, The Affiliated Hospital of Qingdao University, College of Medicine, Qingdao University, Qingdao, Shandong 266021, P.R. China.

    Papers in Europe PMC
  10. 10
    Chen X6 papers · 2026

    The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200030, China; Shanghai Key Laboratory of Embryo Original Diseases, Shanghai 200030, China. Electronic address: superstarcxl@126.com.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

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

Data as of 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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.

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 Occipital horn 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.

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

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"

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: 2 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
  • Publication count (5040) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

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