General Information of Disease (ID: DIS1BE1A)

Disease Name Hereditary lipodystrophy
Synonyms genetic lipodystrophy; genetic lipodystrophy (disease)
Definition An instance of lipodystrophy that is caused by an inherited genomic modification in an individual.
Disease Hierarchy
DISO5FAY: Inborn error of metabolism
DIS3SGVD: Lipodystrophy
DISSCALK: Hereditary skin disorder
DIS1BE1A: Hereditary lipodystrophy
Disease Identifiers
MONDO ID
MONDO_0020087
UMLS CUI
C4511302
MedGen ID
1383706
Orphanet ID
98305
SNOMED CT ID
724841000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AGPAT2 TT9AYVR moderate Biomarker [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GZMH OTG3259L moderate Biomarker [1]
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References

1 Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases.Skeletal Radiol. 2016 Nov;45(11):1495-506. doi: 10.1007/s00256-016-2457-9. Epub 2016 Sep 8.