Details of Disease

General Information of Disease (ID: DISVYGXS)

• Disease Name: PPARG-related familial partial lipodystrophy
• Synonyms: insulin resistance, severe, digenic; lipodystrophy, familial partial, type 3; lipodystrophy, familial partial, associated with Pparg mutations; familial partial lipodystrophy associated with PPARG mutations; familial partial lipodystrophy type 3; PPARG-related FPLD; FPLD3
• Disease Hierarchy:
  DISFVL9J: Familial partial lipodystrophy
  DISVYGXS: PPARG-related familial partial lipodystrophy
• Disease Identifiers:
  MONDO ID: MONDO_0011448
  MESH ID: D052496
  UMLS CUI: C1720861
  OMIM ID: 604367
  MedGen ID: 328393
  Orphanet ID: 79083
  SNOMED CT ID: 1197745002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AKT2	TTH24WI	Strong	Biomarker	[1]
CAV1	TTXUBN2	Strong	Biomarker	[1]
PPARG	TTT2SVW	Definitive	Autosomal dominant	[2]
PPARG	TTT2SVW	Definitive	Altered Expression	[3]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LMNA	OT3SG7ZR	Strong	Biomarker	[1]
PPARG	OTHMARHO	Definitive	Autosomal dominant	[2]

References

• [1] Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy.Metabolism. 2009 Dec;58(12):1681-7. doi: 10.1016/j.metabol.2009.04.043. Epub 2009 Sep 29.
• [2] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [3] Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPAR mutants.Biochim Biophys Acta Mol Cell Biol Lipids. 2019 May;1864(5):715-732. doi: 10.1016/j.bbalip.2019.02.002. Epub 2019 Feb 8.