Details of Disease

General Information of Disease (ID: DISB5MJI)

• Disease Name: Congenital generalized lipodystrophy type 3
• Synonyms: type 3 Berardinelli-Seip congenital lipodystrophy; lipodystrophy, Berardinelli-Seip congenital, type 3; Berardinelli-Seip congenital lipodystrophy, type 3; lipodystrophy, congenital generalized, type 3; CGL3; congenital generalised lipodystrophy (disease) caused by mutation in CAV1; BSCL3; Berardinelli-Seip congenital lipodystrophy type 3; congenital generalized lipodystrophy (disease) caused by mutation in CAV1; CAV1 congenital generalised lipodystrophy (disease); CAV1 congenital generalized lipodystrophy (disease)
• Definition: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.
• Disease Hierarchy:
  DISKW75N: Berardinelli-Seip congenital lipodystrophy
  DIS4XF8N: Congenital generalized lipodystrophy
  DISB5MJI: Congenital generalized lipodystrophy type 3
• Disease Identifiers:
  MONDO ID: MONDO_0012923
  MESH ID: C567282
  UMLS CUI: C2675861
  OMIM ID: 612526
  MedGen ID: 436541

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CAV1	TTXUBN2	Moderate	Autosomal dominant	[1]
CAV1	TTXUBN2	Strong	CausalMutation	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CAV1	OTEZUR1L	Moderate	Autosomal dominant	[1]

References

• [1] 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.
• [2] Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.Am J Med Genet A. 2015 Aug;167A(8):1796-806. doi: 10.1002/ajmg.a.37115. Epub 2015 Apr 21.