ORPHA:178469
Autosomal dominant non-syndromic intellectual disability
Publications
17
34.1th percentile
Trials
0
Interventional, condition-specific
Researchers
225
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015802
- UMLS:C5680502
Additional Mondo synonyms (2)
autosomal dominant non-syndromic intellectual disability · non-syndromic intellectual disability, autosomal dominant
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
17 matched papers (17 in last 10 years) Source
- Phenotype characterisedPresent
1,076 HPO annotations (e.g. Macrocephaly; Frontal upsweep of hair; Wide mouth) Source
- Animal modelPresent
3 genotype models (Mus musculus) Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
1,076
Associated phenotypes · MONDO:0015802
- Macrocephaly
- Frontal upsweep of hair
- Wide mouth
- Downslanted palpebral fissures
- Micropenis
Showing 5 of 1076 — open Monarch for the full list.
Animal models (Monarch / Alliance)
3
Model associations linked to this Mondo ID
- Auts2tm1.1Dare/Auts2tm1.1Dare Tg(Nes-cre)1Kln/0 [background:] involves: C57BL/6 * SJL·MGI:5697531·Mus musculus
- Mbd5Gt(Ayu21-B205)Imeg/Mbd5+ [background:] B6.Cg-Mbd5Gt(Ayu21-B205)Imeg·MGI:5617468·Mus musculus
- Zbtb18tm1.1Nda/Zbtb18tm1.1Nda Tg(Nes-cre)1Kln/0 [background:] involves: C57BL/6 * SJL·MGI:5425229·Mus musculus
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?
17
17 papers have ever been indexed 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=3967) is 59.
17 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).
17 in the last 10 years · high confidence · 34.1th percentile (publications denominator)
Phrase hits: 17 · MeSH hits: 0
Who's working on it?
225
Distinct author names in 17 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.
- 01Zhang X2 papers · 2024
Guangdong Eye Institute, Department of Ophthalmology, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China.
Papers in Europe PMC - 02Zhu Z2 papers · 2024
National Emerging Infectious Diseases Laboratories, Boston University, Boston, MA, United States.
Papers in Europe PMC - 03Al-Mamari W1 paper · 2024
Developmental Paediatric Unit, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat 123, Oman.
Papers in Europe PMC - 04Almeida Lopes B1 paper · 2023
DCAL/Institute of Pharm. Biology, Goethe-University, Frankfurt/Main, Germany.
Papers in Europe PMC - 05Alsayegh A1 paper · 2024
Genomics Department, Sultan Qaboos Comprehensive Cancer Care and Research Center, University Medical City, Muscat 123, Oman.
Papers in Europe PMC - 06Alten J1 paper · 2023
Department of Pediatrics, University Hospital Schleswig-Holstein, Kiel, Germany.
Papers in Europe PMC - 07Ambrozaitytė L1 paper · 2023
Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Santariškių Str. 2, Vilnius, LT-08661, Lithuania.
Papers in Europe PMC - 08Apostolova LG1 paper · 2022
Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Papers in Europe PMC - 09Archer P1 paper · 2023
Bristol Genetics Laboratory, North Bristol NHS Trust, Bristol, United Kingdom.
Papers in Europe PMC - 10Arfeuille C1 paper · 2023
Genetics Department, AP-HP, Hopital Robert Debré, Paris, France.
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.
high 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 19 · after dedupe 19 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 19 · 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 (19)
- ctis·2025-525073-37-00·Revoked·A study to investigate the safety, tolerability, pharmacokinetics, immunogenicity and pharmacodynamics of a single subcutaneous dose of GSK4771261 in healthy participants aged 25 to 55 years of age inclusive
skipped — LLM skipped (--skip-llm)
- ctis·2025-524313-86-00·11·A single center study to evaluate the safety and tolerability of oral Azathioprine in patients with ADPKD
skipped — LLM skipped (--skip-llm)
- ctis·2025-522343-18-00·Authorised, recruiting·A Phase 2, Randomized, Double-Blind, Placebo-Controlled Trial to Assess the Efficacy and Safety of surlorian (ARM210, S48168) in Adults with Autosomal Dominant RYR1-Related Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-524899-40-00·Authorised, ongoing·A First-in-Human Clinical Trial to Assess the Safety, Tolerability and Pharmacokinetics of MR-L45 in Healthy Adults
skipped — LLM skipped (--skip-llm)
- ctis·2025-523284-37-00·Authorised, ongoing·CHARACTERIZATION OF ASTROCYTE REACTIVITY WITH [18F]F-DED PET IN NEURODEGENERATIVE DISEASES
skipped — LLM skipped (--skip-llm)
- ctis·2024-517393-13-00·Authorised, recruiting·A Phase 2a, Open-label, Single-arm Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of VX-407 in Subjects with Autosomal Dominant Polycystic Kidney Disease Who Have a Subset of PKD1 Gene Variants
skipped — LLM skipped (--skip-llm)
- ctis·2025-521276-59-00·Authorised, recruiting·STOP-PKD: SGLT2-inhibition to improve Prognosis in Polycystic Kidney Disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-517143-31-00·Expired·A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety and Efficacy of ABBV-CLS-628 in Adult Subjects with Autosomal Dominant Polycystic Kidney Disease (ADPKD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516095-15-00·Revoked·A study to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of GSK4771261 in healthy participants and participants with autosomal dominant polycystic kidney disease.
skipped — LLM skipped (--skip-llm)
- ctis·2024-517864-49-01·Authorised, ongoing·Metformin versus Tolvaptan in adults with Autosomal Dominant Polycystic Kidney Disease (ADPKD): a phase 3a, independent, multi- centre, 2 parallel arms randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-515734-32-00·Authorised, ongoing·Safety of rotigotine in patients with autosomal dominant polycystic kidney disease - ETERNAL-PKD
skipped — LLM skipped (--skip-llm)
- ctis·2024-513828-42-00·Expired·CERICA - CERebrolysin In CADASIL - A randomized, double-blind, single-centre, two-period cross-over, placebo-controlled trial on safety and efficacy in patients with genetically proven CADASIL
skipped — LLM skipped (--skip-llm)
- ctis·2024-512491-35-00·Authorised, ongoing·Chronic kidney disease – imaging the metabolic derangements with ultra-sensitive MRI
skipped — LLM skipped (--skip-llm)
- ctis·2024-512544-27-00·Cancelled·Treatment of vascular stiffness in patients with autosomal dominant polycystic kidney disease
skipped — LLM skipped (--skip-llm)
- ctis·2023-506290-35-00·Authorised, ongoing·Osprey: An Open-label Study to Investigate the Safety, Tolerability, and Exposure of Single Ascending Doses of the Antisense Oligonucleotide STK-002 in Patients with Autosomal Dominant Optic Atrophy
skipped — LLM skipped (--skip-llm)
- ctis·2023-505890-34-00·Expired·Study of Empagliflozin in Patients with Autosomal Dominant Polycystic Kidney Disease
skipped — LLM skipped (--skip-llm)
- ctis·2023-508743-43-00·Cancelled·Early ablation of atrial fibrillation in patients with hypertrophic cardiomyopathy
skipped — LLM skipped (--skip-llm)
- ctis·2022-501398-38-00·Authorised, recruiting·CALIBRATE: A Phase 3, Randomized, Open-Label Study Evaluating the Efficacy and Safety of Encaleret Compared to Standard of Care in Participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1)
skipped — LLM skipped (--skip-llm)
- ctis·2022-500210-26-00·Authorised, ongoing·HYDROchlorothiazide to PROTECT polycystic kidney disease patients and improve their quality of life (HYDRO-PROTECT)
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 Autosomal dominant non-syndromic intellectual disability — 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.
"Autosomal dominant non-syndromic intellectual disability" OR "non-syndromic intellectual disability, autosomal dominant"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant non-syndromic intellectual disability" OR "non-syndromic intellectual disability, autosomal dominant"
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
Ingested 2026-07-27T08:52:39.640Z