ORPHA:85279
KDM5C-related syndromic X-linked intellectual disability
Also known as: Claes-Jensen syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
98
65.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,193
Distinct authors in sample
Gene link
KDM5C
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, , short stature, impaired speech, and behavioral problems.
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:0010355
- MeSH:C564494
- OMIM:300534
- UMLS:C1845243
Additional Mondo synonyms (7)
MRXSCJ · MRXSJ · intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessive · intellectual disability, X-linked, syndromic, Claes-Jensen type · mental retardation, X-linked, syndromic, Claes-Jensen type · syndromic X-linked intellectual disability Claes-Jensen type · syndromic X-linked intellectual disability JARID1C-related
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — KDM5C
- LiteraturePresent
98 matched papers (95 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 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 (KDM5C).
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?
98
98 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.
98 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).
95 in the last 10 years · high confidence · 65.5th percentile (publications denominator)
Phrase hits: 98 · MeSH hits: 0
Who's working on it?
1,193
Distinct author names in 98 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.
- 01Sadikovic B28 papers · 2026
Department of Pathology and Laboratory Medicine, Western University, 800 Commissioner's Road E, London, ON, N6A 5W9, Canada. bekim.sadikovic@lhsc.on.ca.
Papers in Europe PMC - 02Kerkhof J17 papers · 2026
Department of Pathology and Laboratory Medicine, Western University, 800 Commissioner's Road E, London, ON, N6A 5W9, Canada.
Papers in Europe PMC - 03Aref-Eshghi E14 papers · 2022
Department of Pathology and Laboratory Medicine, Western University, 800 Commissioner's Road E, London, ON, N6A 5W9, Canada.
Papers in Europe PMC - 04Levy MA13 papers · 2025
Department of Pathology and Laboratory Medicine, Western University, 800 Commissioner's Road E, London, ON, N6A 5W9, Canada.
Papers in Europe PMC - 05McConkey H10 papers · 2025
Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada.
Papers in Europe PMC - 06Alders M8 papers · 2025
Amsterdam UMC, Department of Clinical Genetics, Genome Diagnostics laboratory Amsterdam, Reproduction & Development, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands. m.alders@amsterdamumc.nl.
Papers in Europe PMC - 07Stevenson RE8 papers · 2022
Greenwood Genetic Center, 106 Gregor Mendel Cir, Greenwood, SC, 29646, USA.
Papers in Europe PMC - 08Haghshenas S7 papers · 2024
Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 09Iwase S7 papers · 2023
Department of Human Genetics, University of Michigan, 5815 Medical Science II, Ann Arbor, MI 48109, USA.
Papers in Europe PMC - 10Lin H7 papers · 2021
b Molecular Genetics Laboratory, Molecular Diagnostics Division , London Health Sciences Centre , London , ON , Canada . Children's Health Research Institute , London , ON , Canada.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
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.
"KDM5C-related syndromic X-linked intellectual disability" OR "Claes-Jensen syndrome" OR "MRXSCJ" OR "MRXSJ" OR "intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessive" OR "intellectual disability, X-linked, syndromic, Claes-Jensen type" OR "mental retardation, X-linked, syndromic, Claes-Jensen type" OR "syndromic X-linked intellectual disability Claes-Jensen type" OR "syndromic X-linked intellectual disability JARID1C-related"
MeSH descriptor terms unioned into the query: Mental Retardation, X-Linked, Syndromic, Jarid1c-Related
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"KDM5C-related syndromic X-linked intellectual disability" OR "Claes-Jensen syndrome" OR "MRXSCJ" OR "MRXSJ" OR "intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessive" OR "intellectual disability, X-linked, syndromic, Claes-Jensen type" OR "mental retardation, X-linked, syndromic, Claes-Jensen type" OR "syndromic X-linked intellectual disability Claes-Jensen type" OR "syndromic X-linked intellectual disability JARID1C-related" OR "Mental Retardation, X-Linked, Syndromic, Jarid1c-Related" OR "KDM5C"
Recall-expansion terms: KDM5C
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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 2026-07-27T02:51:51.555Z