x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

PPARG-related familial partial lipodystrophy

Disease definition

A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs.

ORPHA:79083

Classification level: Disorder
  • Synonym(s):
    • FPLD3
    • Familial partial lipodystrophy type 3
    • PPARG-related FPLD
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: E88.1
  • ICD-11: 5A44
  • OMIM: 604367
  • UMLS: C1720861
  • MeSH: -
  • GARD: 12600
  • 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.