ORPHA:356996
ANK3-related intellectual disability-sleep disturbance syndrome
Publications
6
21.7th percentile
Trials
0
Interventional, condition-specific
Researchers
72
Distinct authors in sample
Gene link
ANK3
Strong
Readiness
2/6
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.”
2/6 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
6 matched papers (6 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
6
6 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=5449) is 41.
6 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
6 in the last 10 years · high confidence · 21.7th percentile (publications denominator)
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT01238250·RECRUITING·Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Conditions: 16P11.2 Deletion Syndrome · 16p11.2 Duplications · 1Q21.1 Deletion · 1Q21.1 Microduplication Syndrome (Disorder)·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
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"
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" OR "ANK3" OR "intellectual disability, autosomal recessive"
Recall-expansion terms: ANK3, intellectual disability, autosomal recessive
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T14:28:38.221Z