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IEMbase 0594: TANGO2-related recurrent metabolic encephalomyopathic crises

Scope

Field Value
IEMbase ID 594
Nosology 19.6.09.02
Gene TANGO2
External IDs OMIM:616878; ORPHA:480864
Generated mapping UNMAPPED; best candidate Pantothenate_Kinase-Associated_Neurodegeneration.yaml
Candidate DisMech targets None exact
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents TANGO2-related recurrent metabolic encephalomyopathic crises associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN). The record is autosomal recessive, classified under disorders of vesicular trafficking, has unknown treatability, and has no treatment rows.

Biochemical rows include increased acylcarnitine, increased plasma creatine kinase, increased urinary C6-C10 dicarboxylic acids, normal-to-increased blood ammonia, decreased plasma glucose, and increased plasma lactate. Clinical rows include ataxia, dystonia, optic atrophy, spasticity, brain atrophy on MRI, cardiac arrhythmia, hypoglycemia, intellectual disability, neurodegenerative disease, rhabdomyolysis, and seizures.

DisMech phenotype coverage

Pantothenate_Kinase-Associated_Neurodegeneration.yaml is a false-positive generated candidate. PKAN models biallelic PANK2 disease, coenzyme A biosynthesis disruption, brain iron accumulation, progressive dystonia, spasticity, and retinal/neurodegenerative features. It does not represent TANGO2, vesicular-trafficking disease, recurrent metabolic crises, rhabdomyolysis, hypoglycemia, acylcarnitine/dicarboxylic-acid abnormalities, or cardiac arrhythmia crises.

No exact TANGO2/MECRCN target was identified locally.

Concordance and completeness

Judgement: true local gap; reject PKAN as an exact target.

The generated match is driven by dystonia, spasticity, optic involvement, and neurodegeneration. The IEMbase record's defining pattern is metabolic crisis with rhabdomyolysis and cardiac arrhythmia in TANGO2 disease, which is mechanistically separate from PANK2-related NBIA.

Curation actions

  • Create or identify an exact TANGO2 / MECRCN target before import.
  • Reject Pantothenate_Kinase-Associated_Neurodegeneration.yaml as an exact mapping.
  • Preserve acylcarnitine, C6-C10 dicarboxylic-acid, CK, glucose, lactate, ammonia, rhabdomyolysis, arrhythmia, hypoglycemia, seizure, neurodegeneration, optic-atrophy, and MRI prompts.