Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
lipid metabolism
|
| gptkbp:alsoKnownAs |
familial alpha-lipoprotein deficiency
|
| gptkbp:characterizedBy |
enlarged liver
enlarged spleen peripheral neuropathy premature atherosclerosis orange tonsils very low levels of HDL cholesterol |
| gptkbp:complication |
cerebrovascular disease
coronary artery disease |
| gptkbp:diagnosedBy |
genetic testing
blood test for HDL cholesterol |
| gptkbp:firstDescribed |
1961
|
| gptkbp:frequency |
extremely rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Tangier disease
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:ABCA1_gene
|
| gptkbp:namedAfter |
Tangier Island, Virginia, USA
|
| gptkbp:OMIM |
205400
|
| gptkbp:symptom |
peripheral neuropathy
hepatosplenomegaly enlarged yellow-orange tonsils |
| gptkbp:treatment |
symptomatic management
dietary modification |
| gptkbp:bfsParent |
gptkb:APOA1
gptkb:ABCA1 |
| gptkbp:bfsLayer |
7
|