Details of Disease

Disease Name

Acquired partial lipodystrophy

lipodystrophy, cephalothoracic type; lipodystrophy cephalothoracic type; lipodystophy partial progressive; lipodystrophy partial acquired; susceptibility to partial acquired lipodystrophy; lipodystrophy, partial, progressive; APLD, susceptibility to; lipodystrophy, partial, acquired, susceptibility to; APLD; Barraquer-Simons syndrome; progressive cephalothoracic lipodystrophy; partial acquired lipodystrophy; acquired partial lipodystrophy

Definition

A lipodystrophy characterized by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

Disease Hierarchy

DISIZ4RU: Acquired lipodystrophy

DIS2HKKW: Partial lipodystrophy

DISWXX4G: Acquired partial lipodystrophy

Disease Identifiers

MONDO ID

MONDO_0012104

MESH ID

C562448

UMLS CUI

C0220989

MedGen ID

66352

Orphanet ID

79087

SNOMED CT ID

75659004

General Information of Disease (ID: DISWXX4G)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Metreleptin	DM1NOEK	Approved	NA	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AGL	OTWBM7WY	moderate	Genetic Variation	[2]
LMNB2	OTXRDUOS	Strong	Genetic Variation	[3]
REEP1	OTEMVFX7	Strong	Biomarker	[4]
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References

1	Lipodystrophy Syndromes. Endocrinol Metab Clin North Am. 2016 Dec;45(4):783-797.
2	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.
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	Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.Hum Mol Genet. 2016 Dec 1;25(23):5111-5125. doi: 10.1093/hmg/ddw315.