ORPHA:420789
Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
Also known as: Anti-IgLON5 disease · Anti-IgLON5 syndrome
Publications
310
76.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,119
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb , abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also 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:0018489
- UMLS:C4707562
Additional Mondo synonyms (2)
anti-IgLON5 disease · anti-IgLON5 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.”
2/6 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
310 matched papers (308 in last 10 years) Source
- Phenotype characterisedPresent
2 HPO annotations (e.g. Obstructive sleep apnea; Parasomnia) 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
310
310 papers have ever been published on this condition (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.
310 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).
308 in the last 10 years · medium confidence · 76.4th percentile (publications denominator)
Phrase hits: 310 · MeSH hits: 0
Who's working on it?
1,119
Distinct author names in 200 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.
- 01Gaig C25 papers · 2026
Neurology Service, Hospital Clínic of Barcelona, Barcelona, Spain.
Papers in Europe PMC - 02Sabater L23 papers · 2026
Neuroimmunology Program, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) - CaixaResearch Institute (CRI), Hospital Clínic de Barcelona, University of Barcelona, Spain.
Papers in Europe PMC - 03Graus F19 papers · 2026
Neuroimmunology Program, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Papers in Europe PMC - 04Heidbreder A14 papers · 2026
From the Service of Neurology (C.G., A.I., J.S.), Hospital Clinic, Barcelona, Spain; Multidisciplinary Sleep Disorders Unit (C.G., A.I., J.S.), Hospital Clinic, Barcelona, Spain; Department of Immunology (G.E., E.P.), Hospital Clínic, Barcelona, Spain; Institute of Biotechnology and Biomedicine (X.D.), Universitat Autònoma de Barcelona, Barcelona, Spain; Institució Catalana de Recerca i Estudis Avançats (ICREA) (X.D., J.D.), Barcelona, Spain; Laboratory of Parkinson Disease and Other Neurodegenerative Movement Disorders (M.E., R.F.-S.), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Neuroimmunology Program (L.S., J.D., F.G.), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Institute of Neurology (R.H.), Medical University of Vienna, Austria; Institute for Sleep Medicine and Neuromuscular Disorders (A.H.), University Hospital Muenster, Muenster, Germany; Department of Neurology (B.H.), Medical University of Innsbruck, Innsbruck, Austria; and Department of Neurology (J.D.), University of Pennsylvania, Philadelphia, PA.
Papers in Europe PMC - 05Höftberger R14 papers · 2026
From the Service of Neurology (C.G., A.I., J.S.), Hospital Clinic, Barcelona, Spain; Multidisciplinary Sleep Disorders Unit (C.G., A.I., J.S.), Hospital Clinic, Barcelona, Spain; Department of Immunology (G.E., E.P.), Hospital Clínic, Barcelona, Spain; Institute of Biotechnology and Biomedicine (X.D.), Universitat Autònoma de Barcelona, Barcelona, Spain; Institució Catalana de Recerca i Estudis Avançats (ICREA) (X.D., J.D.), Barcelona, Spain; Laboratory of Parkinson Disease and Other Neurodegenerative Movement Disorders (M.E., R.F.-S.), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Neuroimmunology Program (L.S., J.D., F.G.), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Institute of Neurology (R.H.), Medical University of Vienna, Austria; Institute for Sleep Medicine and Neuromuscular Disorders (A.H.), University Hospital Muenster, Muenster, Germany; Department of Neurology (B.H.), Medical University of Innsbruck, Innsbruck, Austria; and Department of Neurology (J.D.), University of Pennsylvania, Philadelphia, PA.
Papers in Europe PMC - 06Santamaria J13 papers · 2026
Neurology Service, Hospital Clínic of Barcelona, Barcelona, Spain.
Papers in Europe PMC - 07Iranzo A12 papers · 2026
Neurology Service, Hospital Clínic of Barcelona, Barcelona, Spain.
Papers in Europe PMC - 08Dalmau J10 papers · 2026
Neuroimmunology Program, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Papers in Europe PMC - 09Kimura A10 papers · 2025
Department of Neurology Gifu University Graduate School of Medicine Gifu Japan.
Papers in Europe PMC - 10Shimohata T10 papers · 2025
Department of Neurology Gifu University Graduate School of Medicine Gifu Japan.
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 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.
medium 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.
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.
None of the matched observational studies is currently listed as recruiting.
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 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea — 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.
"Autoimmune encephalopathy with parasomnia and obstructive sleep apnea" OR "Anti-IgLON5 disease" OR "Anti-IgLON5 syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autoimmune encephalopathy with parasomnia and obstructive sleep apnea" OR "Anti-IgLON5 disease" OR "Anti-IgLON5 syndrome"
Study-type breakdown: 0 interventional · 1 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 (310) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T15:50:08.230Z