congenital generalized lipodystrophy
GPTKB entity
Statements (35)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
adipose tissue
|
| gptkbp:alsoKnownAs |
Berardinelli-Seip congenital lipodystrophy
|
| gptkbp:characterizedBy |
gptkb:acanthosis_nigricans
insulin resistance hepatomegaly hypertriglyceridemia muscular appearance near total absence of adipose tissue |
| gptkbp:complication |
gptkb:liver_disease
gptkb:diabetes_mellitus cardiomyopathy |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1954
Berardinelli Seip |
| gptkbp:hasOrphanetID |
ORPHA:330
|
| https://www.w3.org/2000/01/rdf-schema#label |
congenital generalized lipodystrophy
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:CAV1
gptkb:PTRF AGPAT2 BSCL2 |
| gptkbp:OMIM |
608594
|
| gptkbp:onset |
birth
|
| gptkbp:prevalence |
rare
|
| gptkbp:treatment |
gptkb:insulin
gptkb:metreleptin dietary management |
| gptkbp:bfsParent |
gptkb:caveolin-1
gptkb:Lipodystrophy gptkb:metreleptin |
| gptkbp:bfsLayer |
8
|