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IEMbase 0749: AGPAT2-related lysophosphatidic acid acyltransferase deficiency

Scope

Field Value
IEMbase ID 749
Nosology 14.4.02.01
Nosology code IEM0656
Gene AGPAT2
External IDs OMIM:608594; ORPHA:528
Generated mapping MAPPED; Berardinelli_Seip_Congenital_Lipodystrophy.yaml
Candidate DisMech targets Berardinelli_Seip_Congenital_Lipodystrophy.yaml
Review date 2026-07-07

IEMbase phenotype signal

IEMbase labels this autosomal recessive record as AGPAT2-related lysophosphatidic acid acyltransferase deficiency, with alternate names congenital generalized lipodystrophy type 1 and Berardinelli-Seip syndrome. The phenotype and biochemical rows emphasize high serum triglycerides, abnormal subcutaneous fat distribution, hepatomegaly, hepatic steatosis, and insulin-dependent diabetes mellitus across childhood through adulthood, with some neonatal or infantile flags.

DisMech phenotype coverage

Berardinelli_Seip_Congenital_Lipodystrophy.yaml is the exact local target. It carries the ORPHA:528 disease identity and includes congenital generalized lipodystrophy type 1 / AGPAT2 as a subtype. The entry models AGPAT2 acylglycerol synthesis dysfunction, decreased triglyceride biosynthesis, adipocyte storage failure, generalized adipose tissue loss, ectopic triglyceride accumulation, hypoleptinemia, and severe insulin resistance.

Phenotype coverage is strong for the IEMbase signal: lipodystrophy/adipose tissue loss, insulin resistance or diabetes, hypertriglyceridemia, hepatomegaly, and hepatic steatosis are all represented locally.

Concordance and completeness

Judgement: correct exact mapping with high concordance.

IEMbase is subtype-specific for AGPAT2 / CGL1, while the DisMech entry is a broader Berardinelli-Seip congenital lipodystrophy target that includes this subtype explicitly. The main wording difference is that IEMbase says insulin-dependent diabetes mellitus, whereas DisMech models diabetes and severe insulin resistance more generally.

Curation actions

  • Keep Berardinelli_Seip_Congenital_Lipodystrophy.yaml as the exact mapping.
  • Preserve the AGPAT2 / CGL1 subtype identity when using this note for future phenotype curation.
  • Consider whether insulin-dependent diabetes wording should be normalized or captured as source-specific detail.