Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affects |
lipid metabolism
|
| gptkbp:alsoKnownAs |
gptkb:Bassen-Kornzweig_syndrome
|
| gptkbp:characterizedBy |
retinitis pigmentosa
neurological symptoms acanthocytosis fat malabsorption absence of apolipoprotein B-containing lipoproteins |
| gptkbp:diagnosedBy |
genetic testing
blood lipid analysis |
| gptkbp:firstDescribed |
gptkb:Abraham_Kornzweig
gptkb:Frank_Bassen 1950 |
| gptkbp:hasOrphanetID |
ORPHA:99
|
| https://www.w3.org/2000/01/rdf-schema#label |
Abetalipoproteinemia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:MTTP_gene
|
| gptkbp:OMIM |
200100
|
| gptkbp:prevalence |
less than 1 in 1,000,000
|
| gptkbp:symptom |
muscle weakness
peripheral neuropathy failure to thrive ataxia fat-soluble vitamin deficiencies steatorrhea |
| gptkbp:treatment |
dietary fat restriction
high-dose vitamin E vitamin A supplementation vitamin D supplementation vitamin K supplementation |
| gptkbp:bfsParent |
gptkb:Vitamin_E
|
| gptkbp:bfsLayer |
4
|