Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affects |
lipid metabolism
|
| gptkbp:alsoKnownAs |
gptkb:abetalipoproteinemia
|
| gptkbp:causedBy |
mutations in MTTP gene
|
| gptkbp:diagnosedBy |
blood test
genetic testing |
| gptkbp:firstDescribed |
gptkb:Abraham_Kornzweig
gptkb:Frank_Bassen 1950 |
| https://www.w3.org/2000/01/rdf-schema#label |
Bassen-Kornzweig syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
200100
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
retinitis pigmentosa
peripheral neuropathy failure to thrive acanthocytosis fat malabsorption progressive ataxia steatorrhea |
| gptkbp:treatment |
dietary fat restriction
vitamin A supplementation vitamin D supplementation vitamin K supplementation vitamin E supplementation |
| gptkbp:bfsParent |
gptkb:Abetalipoproteinemia
|
| gptkbp:bfsLayer |
5
|