Orphanet: Autosomal semi dominant severe lipodystrophic laminopathy

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Autosomal semi-dominant severe lipodystrophic laminopathy

Disease definition

A rare familial partial lipodystrophy characterized by severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis, and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported.

Detailed information

Guidelines

Clinical practice guidelines
English (2016) - J Clin Endocrinol Metab

Genetic Testing

Guidance for genetic testing
English (2016) - Eur J Hum Genet

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Autosomal semi-dominant severe lipodystrophic laminopathy

ORPHA:280365

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

Guidelines

Genetic Testing

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services