Details of Disease | DrugMAP

General Information of Disease (ID: DISAHT2X)

Disease Name	PLIN1-related familial partial lipodystrophy
Synonyms	familial partial lipodystrophy type 4; familial partial lipodystrophy associated with PLIN1 mutations; lipodystrophy, familial partial, associated with Plin1 mutations; FPLD due to PLIN1 mutations; lipodystrophy, familial partial, type 4; FPLD4; PLIN1-related FPLD
Disease Hierarchy	DISFVL9J: Familial partial lipodystrophy DISAHT2X: PLIN1-related familial partial lipodystrophy
Disease Identifiers	MONDO ID MONDO_0013478 UMLS CUI C5191005 OMIM ID 613877 MedGen ID 1675945 Orphanet ID 280356 SNOMED CT ID 783616005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PLIN1	TTIV27N	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLIN1	OT3OAAZ4	Strong	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.