congenital generalized lipodystrophy type 4

Term ID

DOID:0111138

Synonyms

• Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy
• Brunzell syndrome AGPAT2-related
• congenital generalised lipodystrophy type 4
• generalised congenital lipodystrophy type 4
• generalised congenital lipodystrophy with myopathy
• generalized congenital lipodystrophy type 4
• generalized congenital lipodystrophy with myopathy

Definition

A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2. https://www.ncbi.nlm.nih.gov/pubmed/19726876

References

• GARD:10937
• ICD10CM:E88.1
• OMIM:613327
• ORDO:228429

Ontology

Human Disease   ( DOID:0111138 )