Familial partial lipodystrophy

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Familial partial lipodystrophy

ORPHA:98306Clinical group

Also called FPLD

What it is

A group of rare genetic lipodystrophies characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.

Key facts

Prevalence
1-9 / 1 000 000 (Europe)
Age of onset
Adolescent, Adult, Childhood, Elderly
Inheritance
Autosomal dominant, Autosomal recessive
Classified as
Clinical group

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes reported in subtypes

AKT2CIDECLIPELMNAPLIN1PPARG

Orphanet records these genes on 8 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

GARD 11962MEDDRA 10087377MESH D052496MONDO 0020088UMLS C0271694

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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