Details of Disease

General Information of Disease (ID: DISIDEEW)

• Disease Name: Congenital generalized lipodystrophy type 1
• Synonyms: Berardinelli-Seip congenital lipodystrophy type 1; AGPAT2-related Brunzell syndrome; lipodystrophy, Berardinelli-Seip congenital, type 1; Brunzell syndrome, AGPAT2-related; lipodystrophy, congenital generalized, type 1; BSCL1; congenital generalised lipodystrophy (disease) caused by mutation in AGPAT2; Berardinelli-Seip congenital lipodystrophy, type 1; CGL1; Brunzell syndrome AGPAT2-related; AGPAT2 congenital generalized lipodystrophy (disease); congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2; congenital generalized lipodystrophy type 1; AGPAT2 congenital generalised lipodystrophy (disease)
• Definition: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.
• Disease Hierarchy:
  DISKW75N: Berardinelli-Seip congenital lipodystrophy
  DIS4XF8N: Congenital generalized lipodystrophy
  DISIDEEW: Congenital generalized lipodystrophy type 1
• Disease Identifiers:
  MONDO ID: MONDO_0012071
  MESH ID: D052497
  UMLS CUI: C1720862
  OMIM ID: 608594
  MedGen ID: 318592

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AGPAT2	TT9AYVR	Strong	Autosomal recessive	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BSCL2	OT73V6Y4	Limited	Genetic Variation	[2]
AGPAT2	OT5I4Y9K	Strong	Autosomal recessive	[1]

References

• [1] AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet. 2002 May;31(1):21-3. doi: 10.1038/ng880. Epub 2002 Apr 22.
• [2] Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.Clin Endocrinol (Oxf). 2009 Oct;71(4):512-7. doi: 10.1111/j.1365-2265.2009.03532.x. Epub 2009 Feb 18.