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IEMbase 0754: PNPLA2-related adipose triglyceride lipase deficiency

Scope

Field Value
IEMbase ID 754
Nosology 14.4.07.01
Nosology code IEM0661
Gene PNPLA2
External IDs OMIM:610717; ORPHA:98908
Generated mapping MAPPED; Neutral_Lipid_Storage_Myopathy.yaml
Candidate DisMech targets Neutral_Lipid_Storage_Myopathy.yaml
Review date 2026-07-07

IEMbase phenotype signal

IEMbase labels this autosomal recessive record as PNPLA2-related adipose triglyceride lipase deficiency, with alternate name neutral lipid storage disease with myopathy. The source rows include elevated creatine kinase, myopathy, muscle atrophy, muscle lipid droplets, muscle vacuoles, lipid deposition, Jordans anomaly, cardiomyopathy, hepatomegaly, hepatic steatosis, and insulin-dependent diabetes mellitus. Many features are possible in childhood or adolescence and present in adulthood.

DisMech phenotype coverage

Neutral_Lipid_Storage_Myopathy.yaml is the exact local target. It carries the ORPHA:98908 disease identity and PNPLA2 / ATGL gene context, and models impaired triglyceride hydrolysis with cytoplasmic triglyceride droplets especially affecting skeletal and cardiac muscle.

DisMech coverage is strong for the core PNPLA2 / NLSDM identity, including myopathy, hyperCKemia, cardiomyopathy, muscle fatty infiltration, limb muscle atrophy, easy fatigability, and absence of ichthyosis as a key contrast with ABHD5-related disease.

Concordance and completeness

Judgement: correct exact mapping with partial phenotype-completeness gaps.

The local entry covers the central disease mechanism and neuromuscular/cardiac phenotypes well. IEMbase adds or emphasizes hepatic and metabolic prompts that are less explicit locally, including hepatomegaly, hepatic steatosis, insulin-dependent diabetes, and Jordans anomaly as a source phenotype row.

Curation actions

  • Keep Neutral_Lipid_Storage_Myopathy.yaml as the exact mapping.
  • Consider adding or checking explicit phenotype coverage for hepatomegaly, hepatic steatosis, insulin-dependent diabetes, muscle lipid droplets or vacuoles, and Jordans anomaly.
  • Preserve the adult-predominant but childhood/adolescent-possible age pattern from IEMbase.