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IEMbase 0756: LIPE-related hormone-sensitive lipase deficiency

Scope

Field Value
IEMbase ID 756
Nosology 14.4.09.01
Nosology code IEM0663
Gene LIPE
External IDs OMIM:615980; ORPHA:435660
Generated mapping UNMAPPED; weak candidate Familial_Partial_Lipodystrophy.yaml
Candidate DisMech targets Familial_Partial_Lipodystrophy.yaml
Review date 2026-07-07

IEMbase phenotype signal

IEMbase labels this autosomal recessive record as LIPE-related hormone-sensitive lipase deficiency, with alternate name familial partial lipodystrophy type 6. The source signal includes very high serum cholesterol and triglycerides, elevated creatine kinase, adult lipodystrophy, low body fat percentage, low BMI, diabetes, acanthosis nigricans, and hepatic steatosis.

DisMech phenotype coverage

Familial_Partial_Lipodystrophy.yaml includes a LIPE-related familial partial lipodystrophy type 6 subtype with biallelic LIPE variant context. The generated mapper status is therefore a false negative or weak partial hit rather than a true local absence.

The local FPLD entry covers the main disease-family phenotype cluster: lipodystrophy, insulin resistance or diabetes, hypertriglyceridemia, hepatic steatosis, and acanthosis nigricans. It is less clear for LIPE-specific phenotype detail, particularly creatine kinase elevation, hypercholesterolemia, low BMI, and the adult-predominant onset pattern.

Concordance and completeness

Judgement: false negative with partial local coverage in a broader FPLD entry.

DisMech has the right broad target and subtype identity, but IEMbase adds useful LIPE-specific biochemical and age-pattern prompts that may not be fully represented in the group-level FPLD phenotype set.

Curation actions

  • Treat Familial_Partial_Lipodystrophy.yaml as partial local coverage for LIPE / FPLD6 rather than as an unrelated weak candidate.
  • Consider adding subtype-specific LIPE phenotype and biochemical detail if the entry supports subtype-level annotations.
  • Preserve CK elevation, hypercholesterolemia, low BMI, and adult-onset pattern as source-specific prompts.