Details of Disease | DrugMAP

General Information of Disease (ID: DISFVL9J)

Disease Name	Familial partial lipodystrophy
Synonyms	lipodystrophy, familial partial; Koberling-Dunnigan syndrome; FPLD; congenital partial lipodystrophy; genetic partial lipodystrophy
Definition	Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.
Disease Hierarchy	DIS2HKKW: Partial lipodystrophy DISFPEQA: Laminopathy DIS1BE1A: Hereditary lipodystrophy DISFVL9J: Familial partial lipodystrophy
Disease Identifiers	MONDO ID MONDO_0020088 MESH ID D052496 UMLS CUI C0271694 MedGen ID 124408 Orphanet ID 98306 SNOMED CT ID 49292002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADRA2A	TTWG9A4	Limited	Biomarker	[1]
CAV1	TTXUBN2	Limited	Biomarker	[2]
AKT2	TTH24WI	Strong	Biomarker	[3]
LIPE	TTLUQ8E	Strong	Genetic Variation	[4]
RAB7A	TTF6WAQ	Strong	Genetic Variation	[5]
SREBF1	TTER0UB	Strong	Genetic Variation	[6]
AGPAT2	TT9AYVR	Definitive	Biomarker	[7]
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⏷ Show the Full List of 7 DTT(s)

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AGL	OTWBM7WY	moderate	Genetic Variation	[8]
GZMH	OTG3259L	moderate	Biomarker	[7]
RECQL5	OTVZMP1Q	moderate	Biomarker	[9]
BSCL2	OT73V6Y4	Strong	Genetic Variation	[2]
CAVIN1	OTFO915U	Strong	Biomarker	[10]
CIDEC	OTMDZ56K	Strong	Biomarker	[10]
LMNB2	OTXRDUOS	Strong	Biomarker	[11]
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⏷ Show the Full List of 7 DOT(s)

References

1	Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy.JCI Insight. 2016 Jun 16;1(9):e86870. doi: 10.1172/jci.insight.86870.
2	Lipodystrophies: disorders of adipose tissue biology.Biochim Biophys Acta. 2009 Jun;1791(6):507-13. doi: 10.1016/j.bbalip.2008.12.014. Epub 2009 Jan 7.
3	Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy.Metabolism. 2009 Dec;58(12):1681-7. doi: 10.1016/j.metabol.2009.04.043. Epub 2009 Sep 29.
4	A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. Can J Cardiol. 2014 Dec;30(12):1649-54. doi: 10.1016/j.cjca.2014.09.007. Epub 2014 Sep 16.
5	The nuclear muscular dystrophies.Semin Pediatr Neurol. 2002 Jun;9(2):100-7. doi: 10.1053/spen.2002.33806.
6	The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy.Hum Mol Genet. 2015 Apr 1;24(7):2096-109. doi: 10.1093/hmg/ddu728. Epub 2014 Dec 18.
7	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.
8	Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy.Diagn Interv Radiol. 2017 Nov-Dec;23(6):428-434. doi: 10.5152/dir.2017.17019.
9	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.
10	Clinical review#: Lipodystrophies: genetic and acquired body fat disorders.J Clin Endocrinol Metab. 2011 Nov;96(11):3313-25. doi: 10.1210/jc.2011-1159. Epub 2011 Aug 24.
11	Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism.J Lipid Res. 2007 Jul;48(7):1433-44. doi: 10.1194/jlr.R700004-JLR200. Epub 2007 Mar 20.