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AKT2-related familial partial lipodystrophy

Disease definition

A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.

ORPHA:79085

Classification level: Disorder
  • Synonym(s):
    • AKT2-related FPLD
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: E88.1
  • ICD-11: 5A44
  • OMIM: -
  • UMLS: C5680134
  • MeSH: -
  • GARD: 12599
  • MedDRA: -

  A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021)

Detailed information

Guidelines

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

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.