Details of Disease | DrugMAP

General Information of Disease (ID: DIS9T3IC)

Disease Name	Lipodystrophy, partial, acquired, susceptibility to
Synonyms	lipodystrophy, cephalothoracic type; lipodystrophy, partial, progressive; lipodystrophy, partial, acquired, susceptibility; barraquer-simons syndrome; APLD, susceptibility to
Definition	An inherited susceptibility or predisposition to developing aquired partial lipodystrophy.
Disease Hierarchy	DIS98MYE: Inherited disease susceptibility DIS9T3IC: Lipodystrophy, partial, acquired, susceptibility to
Disease Identifiers	MONDO ID MONDO_0100476 UMLS CUI C3887501 OMIM ID 608709 MedGen ID 854363

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LMNB2	OTXRDUOS	Limited	Autosomal dominant	[1]
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References

1	Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. Am J Hum Genet. 2006 Aug;79(2):383-9. doi: 10.1086/505885. Epub 2006 Jun 5.