ORPHA:363611
CTCF-related neurodevelopmental disorder
Publications
51
49.6th percentile
Trials
1
Interventional, condition-specific
Researchers
460
Distinct authors in sample
Gene link
CTCF
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, neurodevelopmental disorder characterized by global , borderline to severe , feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.
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:0014213
- OMIM:615502
- UMLS:C3809686
Additional Mondo synonyms (7)
MRD21 · intellectual development disorder, autosomal dominant 21 · intellectual disability, autosomal dominant 21 · intellectual disability, autosomal dominant type 21 · intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome · mental retardation, autosomal dominant 21 · mental retardation, autosomal dominant type 21
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.
- Gene identifiedPresent
Definitive — CTCF
- LiteraturePresent
51 matched papers (40 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
1 matched on ClinicalTrials.gov (1 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?
Yes — we know a specific gene responsible (CTCF).
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?
51
51 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.
51 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).
40 in the last 10 years · high confidence · 49.6th percentile (publications denominator)
Phrase hits: 51 · MeSH hits: 0
Who's working on it?
460
Distinct author names in 51 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.
- 01Abdul-Khaliq H2 papers · 2026
Department of pediatric Cardiology, Saarland University Hospital, Homburg, Germany
Papers in Europe PMC - 02Antoniou P2 papers · 2026
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom
Papers in Europe PMC - 03Audain E2 papers · 2026
Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, Kiel, Germany
Papers in Europe PMC - 04Balaguer J2 papers · 2022
Pediatric Oncology Department, Hospital Universitario y Politécnico La Fe de Valencia, 46026 Valencia, Spain.
Papers in Europe PMC - 05Bauer U2 papers · 2026
Competence Network for Congenital Heart Defects, Berlin, Germany
Papers in Europe PMC - 06Berger F2 papers · 2026
Deutsches Herzzentrum der Charité, Dept. of Congenital Heart Disease-Pediatric Cardiology, Berlin, Germany
Papers in Europe PMC - 07Boex-Fontvieille E2 papers · 2017
a Laboratoire de Génétique Moléculaire des Plantes and Biologie Environnementale et Systémique (BEeSy), Université Grenoble-Alpes , Grenoble cedex , France.
Papers in Europe PMC - 08Bouman A2 papers · 2024
Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Papers in Europe PMC - 09Breckpot J2 papers · 2026
Department of Human Genetics, University of Leuven, KU Leuven, Leuven, Belgium
Papers in Europe PMC - 10Brook JD2 papers · 2026
School of Life Sciences, University of Nottingham, University Park, Nottingham, United Kingdom
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06929013·RECRUITING·Blood Clearance Kinetics of the Nucleosome and CTCF in Peritoneal Metastasis Colorectal Cancer.
Conditions: Peritoneal Carcinomatosis · Peritoneal Metastases From Colorectal Cancer·Matched via recall expansion
Observational and natural-history studies
2 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
- NCT01238250·RECRUITING·Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Conditions: 16P11.2 Deletion Syndrome · 16p11.2 Duplications · 1Q21.1 Deletion · 1Q21.1 Microduplication Syndrome (Disorder)·Matched via recall expansion
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.
"CTCF-related neurodevelopmental disorder" OR "MRD21" OR "intellectual development disorder, autosomal dominant 21" OR "intellectual disability, autosomal dominant 21" OR "intellectual disability, autosomal dominant type 21" OR "intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome" OR "mental retardation, autosomal dominant 21" OR "mental retardation, autosomal dominant type 21"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CTCF-related neurodevelopmental disorder" OR "MRD21" OR "intellectual development disorder, autosomal dominant 21" OR "intellectual disability, autosomal dominant 21" OR "intellectual disability, autosomal dominant type 21" OR "intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome" OR "mental retardation, autosomal dominant 21" OR "mental retardation, autosomal dominant type 21" OR "CTCF"
Recall-expansion terms: CTCF
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 2 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
Ingested 2026-07-27T14:39:35.141Z