ORPHA:356996
ANK3-related intellectual disability-sleep disturbance syndrome
Publications
3,278
Trials
0
Interventional, condition-specific
Researchers
72
Distinct authors in sample
Gene link
ANK3
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, syndromic disorder characterized by variable degrees of , behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness), an altered sleeping pattern, and delayed speech and language development associated with disruption of ankyrin-3 (ANK3 gene). Additional features observed may include muscular and spasticity. , chronic hunger, and facial features have been reported.
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:0014210
- OMIM:615493
- UMLS:C3809672
Additional Mondo synonyms (3)
intellectual disability, autosomal recessive type 37 · mental retardation, autosomal recessive type 37 · mental retardation, autosomal recessive, 37
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
Strong — ANK3
- LiteraturePresent
3,278 matched papers (2,132 in last 10 years) Source
- Phenotype characterisedPresent
26 HPO annotations (e.g. Aggressive behavior; Delayed speech and language development; 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 (ANK3).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
26
Associated phenotypes · MONDO:0014210
- Aggressive behavior
- Delayed speech and language development
- Hypotonia
- Spasticity
- Moderate intellectual disability
Showing 5 of 26 — 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?
3,278
3,278 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.
3,278 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).
2,132 in the last 10 years · low confidence
Phrase hits: 6 · MeSH hits: 0
Who's working on it?
72
Distinct author names in 6 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 Y2 papers · 2021
Department of Neonatal Medicine, Xin-Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Papers in Europe PMC - 02Almazni IA1 paper · 2023
Department of Clinical Laboratory Sciences, Faculty of Applied Medical Sciences, Najran University, Najran, Saudi Arabia.
Papers in Europe PMC - 03Alshehri MA1 paper · 2023
Department of Clinical Laboratory Sciences, Faculty of Applied Medical Sciences, Najran University, Najran, Saudi Arabia.
Papers in Europe PMC - 04Aracena M1 paper · 2024
Genetics Unit, Hospital Dr Luis Calvo Mackenna, Santiago, Chile.
Papers in Europe PMC - 05Arafat A1 paper · 2018
Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, China.
Papers in Europe PMC - 06Araya D1 paper · 2024
Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
Papers in Europe PMC - 07Artan S1 paper · 2025
Department of Medical Genetics, Eskişehir Osmangazi University, Faculty of Medicine, Eskişehir, Turkey.
Papers in Europe PMC - 08Asiri SA1 paper · 2023
Department of Clinical Laboratory Sciences, Faculty of Applied Medical Sciences, Najran University, Najran, Saudi Arabia.
Papers in Europe PMC - 09
- 10Aynacı S1 paper · 2025
Department of Medical Genetics, Eskişehir Osmangazi University, Faculty of Medicine, Eskişehir, Turkey.
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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)
- ctis·2024-519833-51-00·Authorised·The efficacy of pipamperone and aripiprazole on behaviors that challenge in people with intellectual disabilities: A series of N-of-1 cross-over trials
skipped — LLM skipped (--skip-llm)
- ctis·2024-513436-14-00·Authorised, ongoing·Evaluation of oxytocin treatment in children with autism and intellectual disability’, Multiple-dose Oxytocine - ASD and Intellectual Disability
skipped — LLM skipped (--skip-llm)
- ctis·2024-516306-28-00·Revoked·Interest of Oxytocin as an Adjuvant Treatment of Psycho-educational Measures in Challenging Behaviors in Children With Autism Spectrum Disorders and Moderate to Severe Intellectual Disability: Feasibility and Safety Study. (OT-DEFI)
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 ANK3-related intellectual disability-sleep disturbance 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.
("ANK3-related intellectual disability-sleep disturbance syndrome" OR "intellectual disability, autosomal recessive type 37" OR "mental retardation, autosomal recessive type 37" OR "mental retardation, autosomal recessive, 37") OR ("ANK3" OR "ANK3 syndrome" OR "ANK3-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"ANK3-related intellectual disability-sleep disturbance syndrome" OR "intellectual disability, autosomal recessive type 37" OR "mental retardation, autosomal recessive type 37" OR "mental retardation, autosomal recessive, 37"
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 (3278) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T14:28:38.221Z