familial partial lipodystrophy
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lipodystrophy |
| gptkbp:affects |
adipose tissue
|
| gptkbp:associatedWith |
gptkb:AKT2
gptkb:CIDEC gptkb:LMNA gptkb:PLIN1 gptkb:PPARG |
| gptkbp:cause |
gptkb:diabetes_mellitus
insulin resistance hypertriglyceridemia abnormal fat distribution |
| https://www.w3.org/2000/01/rdf-schema#label |
familial partial lipodystrophy
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D050197
|
| gptkbp:OMIM |
151660
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:riskFactor |
gptkb:cardiovascular_disease
gptkb:polycystic_ovary_syndrome |
| gptkbp:symptom |
gptkb:acanthosis_nigricans
accumulation of fat in face and neck loss of subcutaneous fat in limbs muscular appearance |
| gptkbp:treatment |
gptkb:metreleptin
dietary management insulin sensitizers |
| gptkbp:bfsParent |
gptkb:LIPE
|
| gptkbp:bfsLayer |
6
|