Details of Disease

General Information of Disease (ID: DISD1N0B)

• Disease Name: Familial partial lipodystrophy, Dunnigan type
• Synonyms: lipodystrophy, familial, of limbs and Lower trunk; FPL2; lipodystrophy, reverse partial; lipodystrophy, familial partial, Dunnigan type; lipodystrophy, familial partial, type 2; reverse partial lipodystrophy; Dunnigan syndrome; familial partial lipodystrophy type 2; familial partial lipodystrophy Dunnigan type; FPLD2; familial lipodystrophy of limbs and lower trunk
• Definition: Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.
• Disease Hierarchy:
  DISQCXZX: Disorder of development or morphogenesis
  DISFVL9J: Familial partial lipodystrophy
  DISD1N0B: Familial partial lipodystrophy, Dunnigan type
• Disease Identifiers:
  MONDO ID: MONDO_0007906
  MESH ID: D052496
  UMLS CUI: C1720860
  OMIM ID: 151660
  MedGen ID: 354526
  Orphanet ID: 2348
  SNOMED CT ID: 715439000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 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	Strong	Altered Expression	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ITM2A	OT590V63	Strong	Biomarker	[3]
LMNA	OT3SG7ZR	Definitive	Autosomal dominant	[4]

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] Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy.J Med Genet. 2009 Jan;46(1):40-8. doi: 10.1136/jmg.2008.059485. Epub 2008 Sep 19.
• [3] Itm2a silencing rescues lamin A mediated inhibition of 3T3-L1 adipocyte differentiation.Adipocyte. 2017 Oct 2;6(4):259-276. doi: 10.1080/21623945.2017.1362510. Epub 2017 Sep 5.
• [4] Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2000 Jan 1;9(1):109-12. doi: 10.1093/hmg/9.1.109.