congenital generalized lipodystrophy type 4
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
cardiovascular system
musculoskeletal system metabolic system |
| gptkbp:alternativeName |
Berardinelli-Seip congenital lipodystrophy type 4
CGL type 4 |
| gptkbp:hasGeneticCause |
CAVIN1 gene mutation
|
| gptkbp:hasOrphanetID |
ORPHA:330050
|
| https://www.w3.org/2000/01/rdf-schema#label |
congenital generalized lipodystrophy type 4
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
613327
|
| gptkbp:onset |
congenital
|
| gptkbp:symptom |
gptkb:acanthosis_nigricans
insulin resistance cardiomyopathy hypertriglyceridemia muscle hypertrophy mild intellectual disability generalized loss of adipose tissue |
| gptkbp:bfsParent |
gptkb:PTRF
|
| gptkbp:bfsLayer |
7
|