ORPHA:363611
CTCF-related neurodevelopmental disorder
Publications
24,685
Trials
0
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
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 — CTCF
- LiteraturePresent
24,685 matched papers (18,231 in last 10 years) Source
- Phenotype characterisedPresent
190 HPO annotations (e.g. Thin vermilion border; Microcephaly; Delayed speech and language development) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (CTCF).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
190
Associated phenotypes · MONDO:0014213
- Thin vermilion border
- Microcephaly
- Delayed speech and language development
- Small for gestational age
- Patent ductus arteriosus
Showing 5 of 190 — 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
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?
24,685
24,685 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.
24,685 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).
18,231 in the last 10 years · low confidence
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?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 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?
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)
- isrctn·ISRCTN90795724·No longer recruiting·DIANTU001: Phase II/III randomized, double-blind placebo in Alzheimer's
skipped — LLM skipped (--skip-llm)
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 CTCF-related neurodevelopmental disorder — check Associations / patient organisations on that page.
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") OR ("CTCF" OR "CTCF syndrome" OR "CTCF-related")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"
Study-type breakdown: 0 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 (24685) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T14:39:35.141Z