Details of Disease

General Information of Disease (ID: DISG7U2L)

Disease Name CIDEC-related familial partial lipodystrophy
Synonyms lipodystrophy, familial partial, type 5; lipodystrophy, familial partial, associated with Cidec mutations; FPLD5; CIDEC-related FPLD; CIDEC-related familial partial lipodystrophy
Disease Hierarchy
DISFVL9J: Familial partial lipodystrophy
DISG7U2L: CIDEC-related familial partial lipodystrophy
Disease Identifiers
MONDO ID
MONDO_0014098
UMLS CUI
C3808940
OMIM ID
615238
MedGen ID
815270
Orphanet ID
435651
SNOMED CT ID
1197749008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CIDEC OTMDZ56K Supportive Autosomal recessive [1]
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References

1 Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. EMBO Mol Med. 2009 Aug;1(5):280-7. doi: 10.1002/emmm.200900037.