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GTR Home > Conditions/Phenotypes > Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome

Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome

Summary

Lipodystrophies are rare disorders characterized by loss of body fat from various regions and predisposition to metabolic complications of insulin resistance and lipid abnormalities. FPLD7 is an autosomal dominant disorder with a highly variable phenotype. Additional features, including early-onset cataracts and later onset of spasticity of the lower limbs, have been noted in some patients (summary by Garg et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660. [from OMIM]

Available tests

28 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BSCL3, CGL3, LCCNS, MSTP085, PPH3, VIP21, CAV1
    Summary: caveolin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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