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IEMbase 0468: UCP1-3-related uncoupling protein deficiency

Scope

Field Value
IEMbase ID 468
Nosology 24.1.08.01
Gene UCP1; UCP2; UCP3
External IDs OMIM:601665; OMIM:607447
Generated mapping UNMAPPED; low candidate Pyruvate_Dehydrogenase_Deficiency.yaml#E3-binding protein deficiency
Candidate DisMech targets No exact local target
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents UCP1-3-related uncoupling protein deficiency, abbreviated UCPD. The source records autosomal recessive inheritance. The biochemical row is increased plasma glucose, and characteristic clinical rows are type 2 diabetes mellitus and susceptibility to obesity. There are no treatment rows.

DisMech phenotype coverage

There is no exact local DisMech target for UCP1/UCP2/UCP3 uncoupling protein deficiency. A local UCP2 mention occurs in congenital isolated hyperinsulinism as one gene in a hyperinsulinism spectrum, which is not the same entity and has opposite glucose physiology.

The generated Pyruvate_Dehydrogenase_Deficiency.yaml E3-binding protein candidate is a false positive. Local PDH deficiency is a pyruvate dehydrogenase-complex disorder with lactic acidosis and neurometabolic disease; it does not model uncoupling-protein biology, obesity susceptibility, or type 2 diabetes risk.

Concordance and completeness

Judgement: true local gap or scope-review item for UCP1-3 uncoupling-protein deficiency; reject the PDH E3-binding protein candidate.

The IEMbase record looks more like a susceptibility/metabolic-risk phenotype than the discrete Mendelian mitochondrial enzyme defects in nearby batches. If DisMech curates it, the entry should make the disease/susceptibility boundary explicit rather than mapping it to a mechanistically unrelated mitochondrial energy-metabolism disorder.

Curation actions

  • Keep this record unmapped until an explicit UCP1/UCP2/UCP3 uncoupling-protein deficiency or susceptibility target exists.
  • Do not map to Pyruvate_Dehydrogenase_Deficiency.yaml.
  • Do not substitute UCP2 hyperinsulinism context for this hyperglycemia/obesity susceptibility record.
  • If curated, include UCP1/UCP2/UCP3, source-stated autosomal recessive inheritance with verification, uncoupling-protein/mitochondrial energy expenditure biology, increased plasma glucose, type 2 diabetes mellitus, and obesity susceptibility.