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GTR Home > Conditions/Phenotypes > PLIN1-related familial partial lipodystrophy

PLIN1-related familial partial lipodystrophy

Synonyms
Familial partial lipodystrophy 4; LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PLIN1 MUTATIONS
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by Gandotra et al., 2011). Other features may include hepatic steatosis, acanthosis nigricans, polycystic ovary syndrome, and renal disease (summary by Chen et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660. [from OMIM]

Available tests

13 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FPLD4, PERI, PLIN, PLIN1
    Summary: perilipin 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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