Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Familial partial lipodystrophy type 5

Familial partial lipodystrophy type 5 is an autosomal recessive disorder caused by mutations of the CIDEC gene.

Systematic

Partial lipodystrophy
Familial partial lipodystrophy type 2
Familial partial lipodystrophy type 3
Familial partial lipodystrophy type 4
Familial partial lipodystrophy type 5
CIDEC

References:

1.

Nishino N et al. (2008) FSP27 contributes to efficient energy storage in murine white adipocytes by promoting the formation of unilocular lipid droplets.

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2.

Rubio-Cabezas O et al. (2009) Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.

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3.

OMIM.ORG article

Omim 615238 [^]
Update: April 29, 2019