Details of Disease | DrugMAP

General Information of Disease (ID: DISCQBMN)

Disease Name	LIPE-related familial partial lipodystrophy
Synonyms	lipodystrophy, familial partial, type 6; familial partial lipodystrophy type 6; lipodystrophy, familial partial, associated with Lipe mutations; FPLD6; familial partial lipodystrophy associated with LIPE mutations; LIPE-related FPLD
Disease Hierarchy	DISPSIVN: Abdominal obesity-metabolic syndrome DISFVL9J: Familial partial lipodystrophy DISCQBMN: LIPE-related familial partial lipodystrophy
Disease Identifiers	MONDO ID MONDO_0014431 UMLS CUI C4014869 OMIM ID 615980 MedGen ID 863306 Orphanet ID 435660 SNOMED CT ID 1197751007

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
LIPE	TTLUQ8E	Strong	Autosomal recessive	[1]
LIPE	TTLUQ8E	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LIPE	OTMMVJ8A	Strong	Autosomal recessive	[1]
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References

1	Targeted disruption of hormone-sensitive lipase results in male sterility and adipocyte hypertrophy, but not in obesity. Proc Natl Acad Sci U S A. 2000 Jan 18;97(2):787-92. doi: 10.1073/pnas.97.2.787.
2	Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes.N Engl J Med. 2014 Jun 12;370(24):2307-2315. doi: 10.1056/NEJMoa1315496. Epub 2014 May 21.