Details of Disease

General Information of Disease (ID: DISH7EAH)

Disease Name Congenital generalized lipodystrophy type 4
Synonyms
lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy; lipodystrophy, congenital generalized, type 4; Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy; generalised congenital lipodystrophy with myopathy; GCL4; generalized congenital lipodystrophy type 4; generalized congenital lipodystrophy with myopathy; Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy; CGL4; CAVIN1 congenital generalized lipodystrophy (disease); congenital generalised lipodystrophy (disease) caused by mutation in CAVIN1; generalised congenital lipodystrophy type 4; CAVIN1 congenital generalised lipodystrophy (disease); congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1; BSCL4
Definition Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene.
Disease Hierarchy
DIS4XF8N: Congenital generalized lipodystrophy
DISH7EAH: Congenital generalized lipodystrophy type 4
Disease Identifiers
MONDO ID
MONDO_0013225
MESH ID
C567642
UMLS CUI
C2750069
OMIM ID
613327
MedGen ID
412871
Orphanet ID
228429
SNOMED CT ID
1156814008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CAVIN1 OTFO915U Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoS Genet. 2010 Mar 12;6(3):e1000874. doi: 10.1371/journal.pgen.1000874.