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Start free with EleplanLipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome
ORPHA:686999Disease
Also called PLAAT3-related lipodystrophy syndrome
What it is
A rare primary lipodystrophy characterized by partial to generalized loss of fat, associated with metabolic complications and variable neurological manifestations. Most patients present with lipoatrophy of the limbs and trunk, associated with muscular hypertrophy. Metabolic complications include insulin-resistant diabetes mellitus, hypertriglyceridemia, and hepatic steatosis. Major neurological involvement is characterized by demyelinating polyneuropathy. Intellectual disability has also been reported in some patients. Females may present with hirsutism, hyperandrogenism, and polycystic ovary syndrome, while males present with gynecomastia.
Key facts
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Classified as
- Disease
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.
Gene
Cross-references
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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