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ORPHA:85320

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

low confidenceDisorder

Also known as: Johnson syndrome

Publications

21,240

Trials

19

Interventional, condition-specific

Researchers

1,078

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

An X-linked syndromic characterized by , macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.

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.

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

    21,240 matched papers (10,222 in last 10 years) Source

  3. Phenotype characterisedPresent

    3 HPO annotations (e.g. Macroorchidism; Macrocephaly; Moderate intellectual disability) 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

    19 matched on ClinicalTrials.gov (2 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)

3

Associated phenotypes · MONDO:0019419

  • Macroorchidism
  • Macrocephaly
  • Moderate intellectual disability

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?

21,240

21,240 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.

21,240 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).

10,222 in the last 10 years · low confidence

Phrase hits: 21,240 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,078

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
    Gomes JÁP5 papers · 2026

    Department of Ophthalmology and Visual Sciences, Escola Paulista de Medicina, Universidade Federal de São Paulo, Botucatu Street 822, São Paulo 04023-062, Brazil.

    Papers in Europe PMC
  2. 02
    Phillips EJ5 papers · 2026

    Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Australia; Department of Medicine, Vanderbilt University Medical Centre, Nashville, USA.

    Papers in Europe PMC
  3. 03
    Ueta M5 papers · 2026

    Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.

    Papers in Europe PMC
  4. 04
    de Alcântara RJA4 papers · 2025

    Department of Ophthalmology and Visual Sciences, Escola Paulista de Medicina, Universidade Federal de São Paulo, Botucatu Street 822, São Paulo 04023-062, Brazil.

    Papers in Europe PMC
  5. 05
    Frizon L4 papers · 2025

    Department of Ophthalmology and Visual Sciences, Escola Paulista de Medicina, Universidade Federal de São Paulo, Botucatu Street 822, São Paulo 04023-062, Brazil.

    Papers in Europe PMC
  6. 06
    Sotozono C4 papers · 2026

    Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.

    Papers in Europe PMC
  7. 07
    Ardern-Jones M3 papers · 2026

    University Hospital Southampton, Southampton, UK.

    Papers in Europe PMC
  8. 08
    Chen CB3 papers · 2026

    Department of Dermatology, Drug Hypersensitivity Clinical and Research Center, Chang Gung Memorial Hospital, Linkou, Taipei, and Keelung, Taiwan; Department of Dermatology, Xiamen Chang Gung Hospital, Xiamen, China; School of Medicine, National Tsing-Hua University, Hsinchu, Taiwan; Immune-Oncology Center of Excellence, Chang Gung Memorial Hospital, Linkou, Taoyuan, Taiwan; Department of Medicine, College of Medicine, Chang Gung University, Taoyuan, Taiwan.

    Papers in Europe PMC
  9. 09
    Chung WH3 papers · 2026

    Department of Dermatology, Drug Hypersensitivity Clinical and Research Center, Chang Gung Memorial Hospital, Linkou, Taipei, and Keelung, Taiwan; Department of Dermatology, Xiamen Chang Gung Hospital, Xiamen, China; School of Medicine, National Tsing-Hua University, Hsinchu, Taiwan; Immune-Oncology Center of Excellence, Chang Gung Memorial Hospital, Linkou, Taoyuan, Taiwan; Department of Medicine, College of Medicine, Chang Gung University, Taoyuan, Taiwan.

    Papers in Europe PMC
  10. 10
    de Paiva CS3 papers · 2025

    Department of Ophthalmology, Baylor College of Medicine, Baylor Plz, Houston, TX 77030, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

19

interventional trials for this specific condition

19 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026

19 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.6th percentile).

low confidence · 94.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

9 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 38 · after dedupe 38 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 38 · 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).

Uncertain / not reviewed (38)

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 X-linked intellectual disability-macrocephaly-macroorchidism 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.

"X-linked intellectual disability-macrocephaly-macroorchidism syndrome" OR "Johnson syndrome"

Run this search on Europe PMC

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

"X-linked intellectual disability-macrocephaly-macroorchidism syndrome" OR "Johnson syndrome"

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: 19 interventional · 9 observational · 1 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 (21240) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T02:54:28.409Z