Details of Disease

General Information of Disease (ID: DISC6HI8)

Disease Name Generalized lipodystrophy
Synonyms complete generalised lipodystrophy; complete generalized lipodystrophy
Definition Almost complete absence of subcutaneous and/or visceral adipose tissue.
Disease Hierarchy
DIS3SGVD: Lipodystrophy
DISC6HI8: Generalized lipodystrophy
Disease Identifiers
MONDO ID
MONDO_0027766
UMLS CUI
C4317112
MedGen ID
1369615
HPO ID
HP:0009064

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AGPAT2 TT9AYVR Limited Genetic Variation [1]
PLIN1 TTIV27N Limited Biomarker [2]
AGPAT1 TTPL1TK Strong Altered Expression [3]
ANGPTL3 TT59GO7 Strong Biomarker [4]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LPIN1 OTQ75KF2 Limited Genetic Variation [1]
LPIN2 OTRRTMXX Limited Genetic Variation [1]
BSCL2 OT73V6Y4 Strong Autosomal recessive [5]
CAVIN1 OTFO915U Strong Genetic Variation [6]
SNAP23 OTY2MYBX Definitive Biomarker [7]
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References

1 Inborn errors of cytoplasmic triglyceride metabolism.J Inherit Metab Dis. 2015 Jan;38(1):85-98. doi: 10.1007/s10545-014-9767-7. Epub 2014 Oct 10.
2 Autoantibodies Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy.Front Immunol. 2018 Sep 19;9:2142. doi: 10.3389/fimmu.2018.02142. eCollection 2018.
3 Metabolic, Reproductive, and Neurologic Abnormalities in Agpat1-Null Mice.Endocrinology. 2017 Nov 1;158(11):3954-3973. doi: 10.1210/en.2017-00511.
4 Metreleptin therapy lowers plasma angiopoietin-like protein 3 in patients with generalized lipodystrophy.J Clin Lipidol. 2017 Mar-Apr;11(2):543-550. doi: 10.1016/j.jacl.2017.02.002. Epub 2017 Feb 24.
5 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
6 Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. Am J Med Genet A. 2010 Sep;152A(9):2245-53. doi: 10.1002/ajmg.a.33578.
7 SNAP23 regulates BAX-dependent adipocyte programmed cell death independently of canonical macroautophagy.J Clin Invest. 2018 Aug 31;128(9):3941-3956. doi: 10.1172/JCI99217. Epub 2018 Aug 13.