ORPHA:544254
SYNGAP1-related developmental and epileptic encephalopathy
Also known as: SYNGAP1-related DEE
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,930
Trials
0
Interventional, condition-specific
Researchers
164
Distinct authors in sample
Gene link
SYNGAP1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic developmental and epileptic (DEE) characterized by , generalized consisting of eyelid myoclonia with absences and myoclonic-atonic , and autism spectrum disorder (ASD).
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:0034099
- MONDO:0012960
- MeSH:C567234
- OMIM:612621
- UMLS:C2675473
Additional Mondo synonyms (8)
MRD5 · SYNGAP1 autosomal dominant non-syndromic intellectual disability · autosomal dominant intellectual disability 5 · autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1 · epilepsy due to SYNGAP mutations · intellectual disability, autosomal dominant 5 · intellectual disability, autosomal dominant type 5 · mental retardation, autosomal dominant type 5
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 — SYNGAP1
- LiteraturePresent
1,930 matched papers (1,567 in last 10 years) Source
- Phenotype characterisedPresent
60 HPO annotations (e.g. Seizure; Global developmental delay; Hypotonia) 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 (SYNGAP1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
60
Associated phenotypes · MONDO:0034099
- Seizure
- Global developmental delay
- Hypotonia
- Drooling
- Congenital muscular torticollis
Showing 5 of 60 — 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?
1,930
1,930 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.
1,930 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).
1,567 in the last 10 years · low confidence
Phrase hits: 16 · MeSH hits: 0
Who's working on it?
164
Distinct author names in 16 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.
- 01Andrade DM2 papers · 2025
From the Institute of Medical Science (M.R.), University of Toronto; Adult Genetic Epilepsy (AGE) Program (M.R., Q.Z.A., F.Q., A.S.A., D.M.A.), Krembil Neurosciences Institute, Toronto Western Hospital, University Health Network, Ontario, Canada; Department of Pediatrics, Neurology, Pharmacology and Otolaryngology (T.B.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Epilepsy and Neurogenetics Program (A.A.-S.), Neurology Department, Ruber Internacional Hospital, and Initiative for Neuroscience (INCE) Foundation, Madrid, Spain; Department of Drug Design and Pharmacology (A. Bayat), University of Copenhagen; Department for Genetics and Personalized Medicine (A. Bayat), Danish Epilepsy Centre, Dianalund; Institute for Regional Health Services (A. Bayat), University of Southern Denmark, Odense; Department of Epilepsy Genetics and Personalized Medicine (A.R.), Danish Epilepsy Centre, Dianalund, Denmark; Pediatric Clinic (A.R.), IRCCS San Matteo Hospital Foundation, University of Pavia, Italy; NYU Langone Epilepsy Center (O.D.), NY; Edmond J. Safra Program in Parkinson's Disease (A.F.), Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital; Division of Neurology (A.F.), University of Toronto; Krembil Brain Institute (A.F.); Clinical Genetics Research Program (A.S.B.), Centre for Addiction and Mental Health; The Dalglish Family 22q Clinic (A.S.B.), Toronto General Hospital, University Health Network; Department of Psychiatry (A.S.B.), University of Toronto; Toronto Congenital Cardiac Centre for Adults (A.S.B.), Division of Cardiology, Department of Medicine, and Department of Psychiatry, University Health Network; Toronto General Hospital Research Institute and Campbell Family Mental Health Research Institute (A.S.B.); Division of Neurology (D.M.A.), Department of Medicine, University of Toronto, Ontario, Canada.
Papers in Europe PMC - 02
- 03Abeleira-Pazos MT1 paper · 2022
Medical-Surgical Dentistry Research Group (OMEQUI), Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela (USC), 15782 Santiago de Compostela, Spain.
Papers in Europe PMC - 04Aledo-Serrano Á1 paper · 2023
From the Institute of Medical Science (M.R.), University of Toronto; Adult Genetic Epilepsy (AGE) Program (M.R., Q.Z.A., F.Q., A.S.A., D.M.A.), Krembil Neurosciences Institute, Toronto Western Hospital, University Health Network, Ontario, Canada; Department of Pediatrics, Neurology, Pharmacology and Otolaryngology (T.B.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Epilepsy and Neurogenetics Program (A.A.-S.), Neurology Department, Ruber Internacional Hospital, and Initiative for Neuroscience (INCE) Foundation, Madrid, Spain; Department of Drug Design and Pharmacology (A. Bayat), University of Copenhagen; Department for Genetics and Personalized Medicine (A. Bayat), Danish Epilepsy Centre, Dianalund; Institute for Regional Health Services (A. Bayat), University of Southern Denmark, Odense; Department of Epilepsy Genetics and Personalized Medicine (A.R.), Danish Epilepsy Centre, Dianalund, Denmark; Pediatric Clinic (A.R.), IRCCS San Matteo Hospital Foundation, University of Pavia, Italy; NYU Langone Epilepsy Center (O.D.), NY; Edmond J. Safra Program in Parkinson's Disease (A.F.), Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital; Division of Neurology (A.F.), University of Toronto; Krembil Brain Institute (A.F.); Clinical Genetics Research Program (A.S.B.), Centre for Addiction and Mental Health; The Dalglish Family 22q Clinic (A.S.B.), Toronto General Hospital, University Health Network; Department of Psychiatry (A.S.B.), University of Toronto; Toronto Congenital Cardiac Centre for Adults (A.S.B.), Division of Cardiology, Department of Medicine, and Department of Psychiatry, University Health Network; Toronto General Hospital Research Institute and Campbell Family Mental Health Research Institute (A.S.B.); Division of Neurology (D.M.A.), Department of Medicine, University of Toronto, Ontario, Canada.
Papers in Europe PMC - 05Ali AS1 paper · 2023
From the Institute of Medical Science (M.R.), University of Toronto; Adult Genetic Epilepsy (AGE) Program (M.R., Q.Z.A., F.Q., A.S.A., D.M.A.), Krembil Neurosciences Institute, Toronto Western Hospital, University Health Network, Ontario, Canada; Department of Pediatrics, Neurology, Pharmacology and Otolaryngology (T.B.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Epilepsy and Neurogenetics Program (A.A.-S.), Neurology Department, Ruber Internacional Hospital, and Initiative for Neuroscience (INCE) Foundation, Madrid, Spain; Department of Drug Design and Pharmacology (A. Bayat), University of Copenhagen; Department for Genetics and Personalized Medicine (A. Bayat), Danish Epilepsy Centre, Dianalund; Institute for Regional Health Services (A. Bayat), University of Southern Denmark, Odense; Department of Epilepsy Genetics and Personalized Medicine (A.R.), Danish Epilepsy Centre, Dianalund, Denmark; Pediatric Clinic (A.R.), IRCCS San Matteo Hospital Foundation, University of Pavia, Italy; NYU Langone Epilepsy Center (O.D.), NY; Edmond J. Safra Program in Parkinson's Disease (A.F.), Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital; Division of Neurology (A.F.), University of Toronto; Krembil Brain Institute (A.F.); Clinical Genetics Research Program (A.S.B.), Centre for Addiction and Mental Health; The Dalglish Family 22q Clinic (A.S.B.), Toronto General Hospital, University Health Network; Department of Psychiatry (A.S.B.), University of Toronto; Toronto Congenital Cardiac Centre for Adults (A.S.B.), Division of Cardiology, Department of Medicine, and Department of Psychiatry, University Health Network; Toronto General Hospital Research Institute and Campbell Family Mental Health Research Institute (A.S.B.); Division of Neurology (D.M.A.), Department of Medicine, University of Toronto, Ontario, Canada.
Papers in Europe PMC - 06Alonso X1 paper · 2024
Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain.
Papers in Europe PMC - 07Alonso-Colmenero I1 paper · 2024
Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain.
Papers in Europe PMC - 08Arriagada-Vargas C1 paper · 2022
Medical-Surgical Dentistry Research Group (OMEQUI), Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela (USC), 15782 Santiago de Compostela, Spain.
Papers in Europe PMC - 09
- 10Barrera de Leon JC1 paper · 2024
Epilepsy Clinic, Hospital "Country 2000" Guadalajara, Jalisco, México.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 SYNGAP1-related developmental and epileptic encephalopathy — 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.
("SYNGAP1-related developmental and epileptic encephalopathy" OR "SYNGAP1-related DEE" OR "SYNGAP1 autosomal dominant non-syndromic intellectual disability" OR "autosomal dominant intellectual disability 5" OR "autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1" OR "epilepsy due to SYNGAP mutations" OR "intellectual disability, autosomal dominant 5" OR "intellectual disability, autosomal dominant type 5" OR "mental retardation, autosomal dominant type 5") OR (MESH:"Mental Retardation, Autosomal Dominant 5") OR ("SYNGAP1" OR "SYNGAP1 syndrome" OR "SYNGAP1-related")MeSH descriptor terms unioned into the query: Mental Retardation, Autosomal Dominant 5
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"SYNGAP1-related developmental and epileptic encephalopathy" OR "SYNGAP1-related DEE" OR "SYNGAP1 autosomal dominant non-syndromic intellectual disability" OR "autosomal dominant intellectual disability 5" OR "autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1" OR "epilepsy due to SYNGAP mutations" OR "intellectual disability, autosomal dominant 5" OR "intellectual disability, autosomal dominant type 5" OR "mental retardation, autosomal dominant type 5" OR "Mental Retardation, Autosomal Dominant 5"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MRD5
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (1930) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T18:16:27.509Z