Details of Disease

General Information of Disease (ID: DIS9DL50)

Disease Name Congenital generalized lipodystrophy type 2
Synonyms
Berardinelli-Seip congenital lipodystrophy, type 2; lipodystrophy, congenital generalized, type 2; Berardinelli Seip congenital lipodystrophy type 2; Brunzell syndrome, BSCL2-related; Seip syndrome; lipodystrophy, total, and acromegaloid gigantism; Berardinelli syndrome; BSCL2-related Brunzell syndrome; lipoatrophic diabetes, congenital; lipodystrophy, Berardinelli-Seip congenital, type 2; Berardinelli-Seip syndrome; Brunzell syndrome BSCL2-related; congenital generalised lipodystrophy (disease) caused by mutation in BSCL2; CGL2; BSCL2 congenital generalized lipodystrophy (disease); total lipodystrophy and acromegaloid gigantism; Berardinelli-Seip congenital lipodystrophy type 2; BSCL2 congenital generalised lipodystrophy (disease); congenital generalized lipodystrophy (disease) caused by mutation in BSCL2; congenital lipoatrophic diabetes
Definition Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.
Disease Hierarchy
DISKW75N: Berardinelli-Seip congenital lipodystrophy
DIS4XF8N: Congenital generalized lipodystrophy
DIS9DL50: Congenital generalized lipodystrophy type 2
Disease Identifiers
MONDO ID
MONDO_0010020
MESH ID
D052497
UMLS CUI
C1720863
OMIM ID
269700
MedGen ID
318593

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
AGPAT2 TT9AYVR Definitive Biomarker [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BSCL2 OT73V6Y4 Strong Autosomal recessive [2]
------------------------------------------------------------------------------------

References

1 Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus.Eur J Endocrinol. 2007 Dec;157(6):783-7. doi: 10.1530/EJE-07-0393.
2 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.