Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
lipid metabolism
|
| gptkbp:alsoKnownAs |
gptkb:Bassen-Kornzweig_syndrome
apolipoprotein B deficiency |
| gptkbp:complication |
vision loss
growth retardation neurological impairment |
| gptkbp:diagnosedBy |
blood test
genetic testing |
| gptkbp:firstDescribed |
gptkb:Abraham_Kornzweig
gptkb:Frank_Bassen 1950 |
| https://www.w3.org/2000/01/rdf-schema#label |
abetalipoproteinemia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D000006
|
| gptkbp:mutationAssociatedWith |
gptkb:MTTP_gene
|
| gptkbp:OMIM |
200100
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:fat-soluble_vitamin_deficiency
retinitis pigmentosa peripheral neuropathy failure to thrive ataxia acanthocytosis fat malabsorption steatorrhea |
| gptkbp:treatment |
low-fat diet
high-dose vitamin E vitamin A supplementation vitamin D supplementation vitamin K supplementation |
| gptkbp:bfsParent |
gptkb:Bassen-Kornzweig_syndrome
gptkb:MTTP_gene |
| gptkbp:bfsLayer |
6
|