cholesteryl ester storage disease
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder lysosomal storage disorder |
| gptkbp:affects |
liver
spleen adrenal glands |
| gptkbp:category |
metabolic disorder
|
| gptkbp:causedBy |
mutation in LIPA gene
|
| gptkbp:containsGene |
gptkb:LIPA
|
| gptkbp:firstDescribed |
1965
|
| gptkbp:hasEnzymeDeficiency |
lysosomal acid lipase
|
| gptkbp:hasOrphanetID |
gptkb:ORPHA:324
|
| https://www.w3.org/2000/01/rdf-schema#label |
cholesteryl ester storage disease
|
| gptkbp:ICD-10_code |
E75.5
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D002784
|
| gptkbp:OMIM |
278000
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
jaundice
hepatomegaly hyperlipidemia abdominal distension failure to thrive (in infants) |
| gptkbp:synonym |
CESD
Wolman disease (severe form) |
| gptkbp:treatment |
dietary management
enzyme replacement therapy |
| gptkbp:bfsParent |
gptkb:Wolman_disease
|
| gptkbp:bfsLayer |
8
|