hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:abbreviation |
HANAC syndrome
|
| gptkbp:affects |
kidneys
blood vessels muscles |
| gptkbp:associatedWith |
hematuria
proteinuria cerebral small vessel disease retinal arteriolar tortuosity |
| gptkbp:category |
rare disease
|
| gptkbp:firstDescribed |
2007
|
| https://www.w3.org/2000/01/rdf-schema#label |
hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL4A1_gene
|
| gptkbp:OMIM |
611773
|
| gptkbp:symptom |
gptkb:nephropathy
muscle cramps aneurysms angiopathy |
| gptkbp:bfsParent |
gptkb:COL4A1_gene
gptkb:COL4A1 |
| gptkbp:bfsLayer |
7
|