ORPHA:494344
RERE-related neurodevelopmental syndrome
Publications
1,853
Trials
0
Interventional, condition-specific
Researchers
332
Distinct authors in sample
Gene link
RERE
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic multiple anomalies/ syndrome characterized by global , , , , and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, heart defects, genitourinary defects, and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares, and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly, and a small cerebellar vermis.
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:0014857
- OMIM:616975
- UMLS:C5567477
Additional Mondo synonyms (4)
NEDBEH · neurodevelopmental disorder with or without anomalies of the brain, eye, or heart · neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEH · rere-related neurodevelopmental syndrome
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 — RERE
- LiteraturePresent
1,853 matched papers (1,026 in last 10 years) Source
- Phenotype characterisedPresent
138 HPO annotations (e.g. Hypospadias; Abnormality of the genitourinary system; Hearing impairment) 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 (RERE).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
138
Associated phenotypes · MONDO:0014857
- Hypospadias
- Abnormality of the genitourinary system
- Hearing impairment
- Anteverted nares
- Myopia
Showing 5 of 138 — 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?
1,853
1,853 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,853 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).
1,026 in the last 10 years · low confidence
Phrase hits: 32 · MeSH hits: 0
Who's working on it?
332
Distinct author names in 32 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.
- 01Scott DA6 papers · 2026
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Papers in Europe PMC - 02Jordan VK3 papers · 2021
Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 03Kim BJ3 papers · 2021
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Papers in Europe PMC - 04Bicker S2 papers · 2025
Laboratory of Systems Neuroscience, Institute for Neuroscience, Department of Health Science and Technology, ETH Zürich, Zurich, Switzerland.
Papers in Europe PMC - 05Brooks BP2 papers · 2023
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health. Bethesda, Maryland, 20892, USA. Electronic address: brooksb@nei.nih.gov.
Papers in Europe PMC - 06Chiriatti L2 papers · 2026
Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00143 Rome, Italy.
Papers in Europe PMC - 07DeFilippo C2 papers · 2026
Stanford Children's Health/Lucile Packard Children's Hospital Stanford, Palo Alto, California.
Papers in Europe PMC - 08Dieterich C2 papers · 2025
Section of Bioinformatics and Systems Cardiology, Department of Internal Medicine III and Klaus Tschira Institute for Integrative Computational Cardiology, University of Heidelberg, Heidelberg, Germany.
Papers in Europe PMC - 09Faivre L2 papers · 2025
Université Bourgogne Europe, CHU Dijon Bourgogne, INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France. laurence.faivre@chu-dijon.fr.
Papers in Europe PMC - 10Ferilli M2 papers · 2026
Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00143 Rome, Italy.
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 60 · after dedupe 58 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 58 · 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 (58)
- ctis·2026-526105-15-00·Authorised·A multicenter, Randomized, Double-blind, Placebo-controlled Clinical Trial to Evaluate the Efficacy and Safety of Subcutaneous Immunotherapy (Beltavac®) with Polymerized Allergenic Extract of a Mixture of Dermatophagoides and Blomia tropicalis in Patients with Allergic Rhinitis/rhinoconjunctivitis.
skipped — LLM skipped (--skip-llm)
- ctis·2026-525594-39-00·Authorised·Multicenter, randomized, double-blind, parallel-group clinical study comparing RD03/2016 (levoFloxacin and ketorolac trometAmol) eye drops vs Leviosa® (levofloxacin and dexamethaSone 21-phosphaTe) eye drops for 7 days for the prevention and treatment of inflammation and prevention of infection associated with cataract surgery in adults.
(FAST 7)
skipped — LLM skipped (--skip-llm)
- ctis·2025-525008-12-00·Authorised·An open-label multiple dose safety, tolerability and exploratory efficacy clinical trial of PST-611 in patients with geographic atrophy secondary to age-related macular degeneration
skipped — LLM skipped (--skip-llm)
- ctis·2023-507975-23-01·Authorised·Pain Relief at Screening for Retinopathy of Prematurity - The PROPER study
skipped — LLM skipped (--skip-llm)
- ctis·2025-524894-17-00·Authorised, ongoing·A randomized double-masked, multicenter, 3-arm, pivotal Phase 2/3 study to evaluate the efficacy and safety of intravitreal (IVT) EYE201/MK-8748 compared to aflibercept (2 mg) in participants with neovascular age-related macular degeneration (NVAMD)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525613-31-00·Authorised·Intravenous iron in the management of drug-resistant restless legs syndrome: a randomized controlled delayed-start trial. IRON-RLS
skipped — LLM skipped (--skip-llm)
- ctis·2025-524580-21-00·Expired·A prospective, randomized, double-blind, placebo-controlled, multicentre, dose-finding clinical trial with polymerised mannan-conjugated allergoid Dactylis glomerata/Phleum pratense administered subcutaneously to patients with grass pollen-induced allergic rhinitis or rhinoconjunctivitis.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521563-13-01·Authorised, ongoing·Safety and efficacy of T10430 eye drops in controlling paediatric myopia progression
skipped — LLM skipped (--skip-llm)
- ctis·2025-523280-38-00·Authorised, ongoing·An Open-Label, Rollover Study for Participants With Thyroid Eye Disease Previously Enrolled in Amgen-Sponsored AMG 732 Studies and are Primary Proptosis Non-responders or who Relapsed During the Safety Follow-up
skipped — LLM skipped (--skip-llm)
- ctis·2025-523443-35-00·Authorised, recruiting·Phase 3, Multicenter, Randomized, Double-Masked, Vehicle-Controlled, Parallel Group Study to Evaluate the Safety and Efficacy of Recombinant Human Nerve Growth Factor Eye Drop Solution in Participants With Persistent Corneal Epithelial Defect (PCED)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523704-77-00·Authorised, ongoing·A randomized, double masked, placebo-controlled, multicenter, dose-range finding study to assess the efficacy and safety of FWY003 in patients with geographic atrophy secondary to age-related macular degeneration
skipped — LLM skipped (--skip-llm)
- ctis·2025-521967-11-00·Authorised·Electrophysiological analysis of Gamma-Hydroxybutyrate-induced sleep in intensive care patients: A Pilot Double-Blind Randomized Controlled Trial.(GAMMA-SLEEP)
skipped — LLM skipped (--skip-llm)
- ctis·2023-503573-38-00·Authorised·Safety of stem cells in treatmemt of retinal diseases.
skipped — LLM skipped (--skip-llm)
- ctis·2024-518120-68-01·Authorised·Prevention of Sexual Offending with Cognitive Behavioral Therapy Alone Versus Therapy Combined with Testosterone Suppression – the PREVENT-MED randomized clinical trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523117-28-00·Authorised, ongoing·A Phase 2, multicenter, open label, non-randomized study to evaluate the efficacy and safety of extended dosing of belantamab mafodotin in different combinations with standard of care regimens in participants with relapsed-refractory multiple myeloma (DREAMM-15)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522207-15-01·Authorised·An Open-label, Multicenter, Two Part, Ascending Dose Followed by a Controlled Trial to Assess the Safety and Efficacy of a Subretinal Administration of AAVB-039 in Participants with Stargardt Disease (STGD1) (CELESTE)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522460-33-00·Authorised, recruiting·An Open-Label, Single-Arm, 3-Year Extension Study to Evaluate Safety and Tolerability of Tinlarebant in Subjects with Stargardt Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-523937-25-00·Authorised, ongoing·A Phase 3, Multicenter, Prospective, Randomized, Double-Masked, Parallel-Group Study of EYP-1901, a Tyrosine Kinase Inhibitor (TKI), Compared to Aflibercept (2 mg) in Participants with Diabetic Macular Edema (DME) (EYP-1901-303)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525349-65-00·Authorised, recruiting·Open-label, safety, tolerability and proof of concept study to evaluate the use of ANXV (recombinant human Annexin A5 protein) in the treatment of patients with either Diabetic Retinopathy or recent onset Retinal Vein Occlusion
skipped — LLM skipped (--skip-llm)
- ctis·2025-523227-22-00·Authorised·A Therapeutic Non-Inferiority, Randomized, Observer-blind, Active-comparator, Two-arm, Parallel Group, Multi-center Clinical Trial for Comparing the Efficacy and Tolerability of a Generic Fixed Dose Combination of Brimonidine Tartrate 2 mg/ml + Timolol 5 mg/ml Eye Drops versus Combigan® 2 mg/ml + 5 mg/ml Eye Drops in the Treatment of Intraocular Pressure in Patients with Open Angle Glaucoma or Ocular Hypertension
skipped — LLM skipped (--skip-llm)
- ctis·2025-521709-42-00·Authorised, recruiting·Clinical trial to evaluate the efficacy and safety of Depigoid DUO Grass-Mix/Olea (1000 DPP/mL + 1000 DPP/mL) compared with placebo in patients suffering from allergic rhinoconjunctivitis with or without asthma due to clinically relevant sensitisation to grass and olive pollen.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521736-10-00·Authorised, recruiting·Clinical trial to evaluate the efficacy and safety of Depigoid Grass-Mix at 1000 DPP/mL and Depigoid FORTE Grass-Mix at 3000 DPP/mL compared with placebo in patients suffering from allergic rhinoconjunctivitis with or without controlled asthma due to clinically relevant sensitisation to grass pollen.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521758-40-00·Authorised, ongoing·Intravitreal (IVT) Pozelimab for Geographic Atrophy (GA) in Adult Participants
skipped — LLM skipped (--skip-llm)
- ctis·2025-524553-13-00·Authorised·Low-dose versus standard-dose anticoagulation with argatroban or enoxaparin during extracorporeal membrane oxygenation controlled by anti-IIa or anti-Xa assay
skipped — LLM skipped (--skip-llm)
- ctis·2025-521779-30-00·Authorised·A Phase 2, Randomized, Masked, Placebo-Controlled Study of Subcutaneously Administered ADX-038 in Participants With Geographic Atrophy (GA) Secondary to Age-Related Macular Degeneration (AMD)
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 RERE-related neurodevelopmental syndrome — 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.
("RERE-related neurodevelopmental syndrome" OR "NEDBEH" OR "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart" OR "neurodevelopmental disorder with or without anomalies of brain, eye, or heart" OR "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEH" OR "neurodevelopmental disorder with or without anomalies of brain, eye, or heart; NEDBEH") OR ("RERE" OR "RERE syndrome" OR "RERE-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"RERE-related neurodevelopmental syndrome" OR "NEDBEH" OR "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart" OR "neurodevelopmental disorder with or without anomalies of brain, eye, or heart" OR "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEH" OR "neurodevelopmental disorder with or without anomalies of brain, eye, or heart; NEDBEH"
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 (1853) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T17:28:35.030Z