Details of Disease

General Information of Disease (ID: DIS2HKKW)

Disease Name Partial lipodystrophy
Definition Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body.
Disease Hierarchy
DIS3SGVD: Lipodystrophy
DIS2HKKW: Partial lipodystrophy
Disease Identifiers
MONDO ID
MONDO_0027767
UMLS CUI
C4316789
MedGen ID
1386287

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AKT2 TTH24WI Limited Biomarker [1]
PLIN1 TTIV27N Strong Genetic Variation [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LMNB2 OTXRDUOS Limited Genetic Variation [3]
AGL OTWBM7WY moderate Genetic Variation [4]
CIDEC OTMDZ56K Strong Genetic Variation [5]
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References

1 Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes.Diabetes. 2007 Mar;56(3):714-9. doi: 10.2337/db06-0921.
2 PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.J Clin Endocrinol Metab. 2018 Sep 1;103(9):3225-3230. doi: 10.1210/jc.2017-02662.
3 A Chinese patient with acquired partial lipodystrophy caused by a novel mutation with LMNB2 gene.J Pediatr Endocrinol Metab. 2012;25(3-4):375-7. doi: 10.1515/jpem-2012-0007.
4 Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies.J Hum Genet. 2014 Jan;59(1):16-23. doi: 10.1038/jhg.2013.107. Epub 2013 Oct 24.
5 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.