Details of Disease | DrugMAP

General Information of Disease (ID: DIS0BB6S)

Disease Name	Autosomal semi-dominant severe lipodystrophic laminopathy
Disease Hierarchy	DISFVL9J: Familial partial lipodystrophy DIS0BB6S: Autosomal semi-dominant severe lipodystrophic laminopathy
Disease Identifiers	MONDO ID MONDO_0017230 UMLS CUI C5680783 MedGen ID 1808090 Orphanet ID 280365 SNOMED CT ID 1197747005

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
LMNA	OT3SG7ZR	Supportive	Semidominant	[1]
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References

1	A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A. J Clin Endocrinol Metab. 2011 May;96(5):E856-62. doi: 10.1210/jc.2010-2234. Epub 2011 Feb 23.