ORPHA:85320
X-linked intellectual disability-macrocephaly-macroorchidism syndrome
Also known as: Johnson syndrome
Publications
21,240
Trials
19
Interventional, condition-specific
Researchers
1,078
Distinct authors in sample
Gene link
—
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019419
- UMLS:C4304406
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
21,240 matched papers (10,222 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
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=5449) is 41.
21,240 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).
10,222 in the last 10 years · low confidence
Phrase hits: 21,240 · MeSH hits: 0
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.
- 01Gomes 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 - 02Phillips 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 - 03Ueta M5 papers · 2026
Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Papers in Europe PMC - 04de 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 - 05Frizon 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 - 06Sotozono C4 papers · 2026
Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Papers in Europe PMC - 07
- 08Chen 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 - 09Chung 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 - 10de 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 27 July 2026
19 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.2th percentile).
low confidence · 94.2th 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.
- NCT06926478·NOT YET RECRUITING·Subconjunctival Humira for Boston Keratoprosthesis
Conditions: Penetrating Keratoplasty · Multiple Graft Failure · Ocular Cicatricial Pemphigoid · Stevens-Johnson Syndrome·Matched via name phrase
- NCT07014059·NOT YET RECRUITING·Autologous Serum Obtained by a Closed-Circuit Collection Device
Conditions: GVHD · Meibomian Gland Dysfunction (Disorder) · Stevens-Johnson Syndrome · Limbal Keratoconjunctivitis·Matched via name phrase
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
- NCT03659227·RECRUITING·Drug Reactions Sampling (COLLECTIONTOXIDERMIES)
Conditions: Stevens-Johnson Syndrome · Lyell Syndrome · Drug Reactions · AGEP·Matched via name phrase
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 2026-07-26This 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"
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