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Familial partial lipodystrophy, Köbberling type

Disease definition

Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.

ORPHA:79084

Classification level: Disorder
  • Synonym(s):
    • FPLD1
    • Familial partial lipodystrophy type 1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: E88.1
  • ICD-11: 5A44
  • OMIM: 608600
  • UMLS: C1720859
  • MeSH: -
  • GARD: 12598
  • MedDRA: -

  A summary on this disease is available in Espańol (2015) Italiano (2015) Nederlands (2015) Deutsch (2006) Français (2006)

Detailed information

Guidelines

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