Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
lysosomal storage disorder |
| gptkbp:affects |
infants
|
| gptkbp:causedBy |
mutation in LIPA gene
|
| gptkbp:characterizedBy |
vomiting
diarrhea jaundice failure to thrive hepatosplenomegaly malabsorption adrenal calcification |
| gptkbp:deficiencyCauses |
lysosomal acid lipase
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
gptkb:Moshe_Wolman
1956 |
| https://www.w3.org/2000/01/rdf-schema#label |
Wolman disease
|
| gptkbp:ICD-10_code |
E75.5
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mortalityRate |
usually fatal in infancy
|
| gptkbp:namedAfter |
gptkb:Moshe_Wolman
|
| gptkbp:OMIM |
278000
|
| gptkbp:prevalence |
very rare
|
| gptkbp:prognosis |
poor
|
| gptkbp:relatedTo |
gptkb:cholesteryl_ester_storage_disease
|
| gptkbp:symptom |
enlarged liver
enlarged spleen adrenal insufficiency |
| gptkbp:treatment |
enzyme replacement therapy
|
| gptkbp:bfsParent |
gptkb:Abraham_Wolman
|
| gptkbp:bfsLayer |
7
|