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IEMbase 0755: PLIN1-related perilipin 1 deficiency

Scope

Field Value
IEMbase ID 755
Nosology 14.4.08.01
Nosology code IEM0662
Gene PLIN1
External IDs OMIM:613877; ORPHA:280356
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 dominant record as PLIN1-related perilipin 1 deficiency, with alternate name familial partial lipodystrophy type 4. The source signal includes very high serum cholesterol and triglycerides, lipodystrophy, low body fat percentage, low BMI, acanthosis nigricans, diabetes, hypertension, hepatic steatosis, cushingoid appearance, ovarian failure, and stroke. Several findings are possible in early age bands and present in adolescence or adulthood.

DisMech phenotype coverage

Familial_Partial_Lipodystrophy.yaml includes a PLIN1-related familial partial lipodystrophy type 4 subtype with the expected gene and MONDO subtype context. The generated mapper status is therefore best interpreted as a false negative or weak partial hit rather than a true local absence.

The local FPLD entry provides broad group-level coverage for partial loss of subcutaneous fat, insulin resistance, diabetes, hypertriglyceridemia, decreased HDL, pancreatitis, hepatic steatosis, hypertension, acanthosis nigricans, and atherosclerosis. It is less explicit for PLIN1-specific phenotype detail and does not clearly capture IEMbase prompts such as hypercholesterolemia, low BMI, cushingoid appearance, ovarian failure, or stroke.

Concordance and completeness

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

The local entry should be considered disease-family coverage for PLIN1 / FPLD4, but subtype-level phenotype completeness is limited. IEMbase is useful for adding PLIN1-specific metabolic, adipose-distribution, reproductive, and vascular prompts.

Curation actions

  • Treat Familial_Partial_Lipodystrophy.yaml as partial local coverage for PLIN1 / FPLD4 rather than as an unrelated weak candidate.
  • Consider adding subtype-specific PLIN1 phenotype detail if the entry supports subtype-level annotations.
  • Preserve hypercholesterolemia, low BMI, cushingoid appearance, ovarian failure, and stroke as source-specific prompts not clearly covered by the group-level entry.