Details of Disease

General Information of Disease (ID: DISKW75N)

Disease Name Berardinelli-Seip congenital lipodystrophy
Synonyms
Lawrence-Seip syndrome; lipoatrophic diabetes; congenital generalized lipodystrophy; congenital generalised lipodystrophy; GCL; Beradinelli-Seip syndrome; Berardinelli Seip syndrome; Berardinelli lipodystrophy syndrome; Seip-Bernardinelli syndrome; generalised congenital lipodystrophy; generalized congenital lipodystrophy; total lipodystrophy; BSCL; Brunzell syndrome
Definition
A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DIS1BE1A: Hereditary lipodystrophy
DISKW75N: Berardinelli-Seip congenital lipodystrophy

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AGPAT2 TT9AYVR Supportive Autosomal recessive [1]
CAV1 TTXUBN2 Supportive Autosomal recessive [2]
FOS TTOM5AU Supportive Autosomal recessive [3]
PPARG TTT2SVW Supportive Autosomal recessive [4]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AGPAT2 OT5I4Y9K Supportive Autosomal recessive [1]
BSCL2 OT73V6Y4 Supportive Autosomal recessive [1]
CAV1 OTEZUR1L Supportive Autosomal recessive [2]
CAVIN1 OTFO915U Supportive Autosomal recessive [5]
FOS OTJBUVWS Supportive Autosomal recessive [3]
PPARG OTHMARHO Supportive Autosomal recessive [4]
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⏷ Show the Full List of 6 DOT(s)

References

1 Berardinelli-Seip Congenital Lipodystrophy. 2003 Sep 8 [updated 2016 Dec 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2 Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. J Clin Endocrinol Metab. 2008 Apr;93(4):1129-34. doi: 10.1210/jc.2007-1328. Epub 2008 Jan 22.
3 A mutation in the c-fos gene associated with congenital generalized lipodystrophy. Orphanet J Rare Dis. 2013 Aug 7;8:119. doi: 10.1186/1750-1172-8-119.
4 Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome. Eur J Med Genet. 2014 Sep;57(9):524-6. doi: 10.1016/j.ejmg.2014.06.006. Epub 2014 Jun 28.
5 Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. Am J Med Genet A. 2010 Sep;152A(9):2245-53. doi: 10.1002/ajmg.a.33578.