Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Synonyms: TANGO2-related metabolic encephalopathy-arrhythmia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | TANGO2-related metabolic encephalopathy-arrhythmia syndrome |
| fr | Syndrome de crises encéphalomyopathiques métaboliques récurrentes-rhabdomyolyse-arythmie cardiaque-déficience intellectuelle | Syndrome d'encéphalopathie métabolique-arythmie associé à TANGO2 |
| de | Rezidivierende metabolische enzephalomyopathische Krisen-Rhabdomyolyse-Herzrhythmusstörung-Intelligenzminderung-Syndrom | TANGO2-assoziierte metabolische Enzephalopathie-Arrhythmie-Syndrom |
| es | Síndrome de crisis encefalomiopáticas metabólicas recurrentes-rabdomiólisis-arritmia cardíaca-discapacidad intelectual | Síndrome de encefalopatía metabólica-arritmia asociado a TANGO2 |
| it | Sindrome crisi encefalomiopatiche metaboliche ricorrenti-rabdomiolisi-aritmia cardiaca-disabilità intellettiva | Sindrome da encefalopatia metabolica e aritmia correlata a TANGO2 |
| nl | Recidiverende metabole encefalomyopathische crises - rhabdomyolyse - hartritmestoornis - intellectuele achterstand-syndroom | TANGO2-gerelateerd metabole encefalopathie - aritmie-syndroom |
| pt | Síndrome com crises encefalomiopáticas metabólicas recorrentes-rabdomiólise-arritmia cardíaca-perturbação do desenvolvimento intelectual | Síndrome de arritmia-encefalopatia metabólica TANGO2-relacionada |
| pl | Zespół nawracającego przełomu metabolicznego o charakterze encefalomiopatii, rabdomiolizy, arytmii serca i niepełnosprawności intelektualnej | = en |
| cs | Syndrom zahrnující opakované metabolické encefalopatické krize, rhabdomyolýzu, srdeční arytmie a mentální retardaci | = en |
| uk | Синдром рецидивуючих метаболічних енцефаломіопатичних кризів-рабдоміолізу-серцевої аритмії-інтелектуальної недостатності | Синдром метаболічної енцефалопатії-аритмії, повязаний з TANGO2 |
| zh | 复发性代谢性脑脊髓病-横纹肌溶解症-心脏心律不齐-智力障碍综合征 | = en |
| tr | Tekrarlayan metabolik ensefalomiyopatik krizler-rabdomiyoliz-kardiyak aritmi-zihinsel yetersizlik sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616878 | E | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-11 | 8E4Y | NTBT | attributed | validated |
| MONDO | 0018820 | E | validated | |
| UMLS | C5567524 | E | validated | |
| GARD | 13423 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:225713Other metabolic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TANGO2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:25439 | ENSG00000183597 | 616830 | 22q11.21 | transport and golgi organization 2 homolog | 26805781[PMID]_26805782[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | 26805781[PMID]_26805782[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26805781[PMID]_26805782[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
51 annotations · validated 2020-01-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003115 | Abnormal EKG | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001263 | Global developmental delay | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0001249 | Intellectual disability | |
| HP:0002919 | Ketonuria | |
| Frequent (79-30%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0008942 | Acute rhabdomyolysis | |
| HP:0011675 | Arrhythmia | |
| HP:0001251 | Ataxia | |
| HP:0008223 | Compensated hypothyroidism | |
| HP:0031936 | Delayed ability to walk | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002376 | Developmental regression | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0002283 | Global brain atrophy | |
| HP:0001987 | Hyperammonemia | |
| HP:0001943 | Hypoglycemia | |
| HP:0002311 | Incoordination | |
| HP:0004305 | Involuntary movements | |
| HP:0003128 | Lactic acidosis | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0001657 | Prolonged QT interval | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0000646 | Amblyopia | |
| HP:0003487 | Babinski sign | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0002169 | Clonus | |
| HP:0002015 | Dysphagia | |
| HP:0001332 | Dystonia | |
| HP:0045045 | Elevated plasma acylcarnitine levels | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0010818 | Generalized tonic seizure | |
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
| HP:0002173 | Hypoglycemic seizures | |
| HP:0012469 | Infantile spasms | |
| HP:0011342 | Mild global developmental delay | |
| HP:0031165 | Multifocal seizures | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0011344 | Severe global developmental delay | |
| HP:0001297 | Stroke | |
| HP:0000605 | Supranuclear gaze palsy | |
| Very rare (<4-1%) | ||
| HP:0000252 | Microcephaly | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 29369572[PMID]_30245509[PMID]_31339582[PMID]_26805782[PMID]_26805781[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/480864
- This record as JSON: /data/d/480864.json