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

CIDEC-related familial partial lipodystrophy

Synonyms
Familial partial lipodystrophy 5; LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH CIDEC MUTATIONS
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare genetic lipodystrophy with characteristics of abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and gluteofemoral subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidaemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis. [from SNOMEDCT_US]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CIDE-3, CIDE3, FPLD5, FSP27, CIDEC
    Summary: cell death inducing DFFA like effector c

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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