ORPHA:480864
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Also known as: TANGO2-related metabolic encephalopathy-arrhythmia syndrome
Publications
83
62.9th percentile
Trials
0
Interventional, condition-specific
Researchers
594
Distinct authors in sample
Gene link
TANGO2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Recurrent encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia- syndrome is a rare, genetic, neurodegenerative disease characterized by episodic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, , , cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, , lactic , increased acylcarnitines and a disorientated or comatose state. Global , and cortical, pyramidal and cerebellar signs develop with subsequent neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.
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:0018820
- OMIM:616878
- UMLS:C5567524
Additional Mondo synonyms (5)
MECRCN · TANGO2 Deficiency Disorder · TANGO2 deficiency · transport and golgi organisation protein 2 (TANGO2) deficiency · transport and golgi organization protein 2 (TANGO2) deficiency
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
Definitive — TANGO2
- LiteraturePresent
83 matched papers (81 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 (TANGO2).
GenCC classification: Definitive.
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?
83
83 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=5449) is 41.
83 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).
81 in the last 10 years · high confidence · 62.9th percentile (publications denominator)
Phrase hits: 83 · MeSH hits: 0
Who's working on it?
594
Distinct author names in 83 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.
- 01Mackenzie SJ10 papers · 2026
Department of Neurology, University of Rochester Medical Center, Rochester, NY.
Papers in Europe PMC - 02Miyake CY8 papers · 2024
Department of Pediatrics, Division of Pediatric Cardiology, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston Texas. Electronic address: cymiyake@bcm.org.
Papers in Europe PMC - 03Sacher M8 papers · 2026
Department of Biology, Concordia University, Montreal, Quebec, Canada.
Papers in Europe PMC - 04Lalani SR7 papers · 2024
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Papers in Europe PMC - 05Zhang L7 papers · 2024
Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston Texas; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Papers in Europe PMC - 06Gamberi C6 papers · 2025
Department of Biology, Coastal Carolina University, Conway, South Carolina, USA.
Papers in Europe PMC - 07Ghaloul-Gonzalez L5 papers · 2026
Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA. Lina.Gonzalez@chp.edu.
Papers in Europe PMC - 08Sandkuhler SE5 papers · 2026
Department of Pathology, University of Rochester Medical Center, Rochester, New York, USA.
Papers in Europe PMC - 09Asadi P4 papers · 2024
Department of Biology, Concordia University, Montreal, Quebec, Canada.
Papers in Europe PMC - 10de Lonlay P4 papers · 2026
Université Paris Cité, INSERM, CNRS, Institut Necker Enfants Malades, F-75015 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. 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
- NCT05374616·RECRUITING·Natural History Study and Establishment of a Biorepository-TANGO2-related Disorder
Conditions: TANGO2-related Disorder·Matched via recall expansion
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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.
"Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome" OR "TANGO2-related metabolic encephalopathy-arrhythmia syndrome" OR "MECRCN" OR "TANGO2 Deficiency Disorder" OR "TANGO2 deficiency" OR "transport and golgi organisation protein 2 (TANGO2) deficiency" OR "transport and golgi organization protein 2 (TANGO2) deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome" OR "TANGO2-related metabolic encephalopathy-arrhythmia syndrome" OR "MECRCN" OR "TANGO2 Deficiency Disorder" OR "TANGO2 deficiency" OR "transport and golgi organisation protein 2 (TANGO2) deficiency" OR "transport and golgi organization protein 2 (TANGO2) deficiency" OR "TANGO2"
Recall-expansion terms: TANGO2
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 2026-07-27T17:15:11.432Z