hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome

URI: https://gptkb.org/entity/hereditary_angiopathy_with_nephropathy,_aneurysms,_and_muscle_cramps_(HANAC)_syndrome
GPTKB entity
Statements (21)
Predicate Object
gptkbp:instanceOf gptkb:genetic_disorder
gptkbp:abbreviation HANAC syndrome
gptkbp:affects kidneys
blood vessels
muscles
gptkbp:associatedWith gptkb:cerebral_small_vessel_disease
hematuria
proteinuria
retinal arteriolar tortuosity
gptkbp:category gptkb:rare_disease
gptkbp:firstDescribed 2007
gptkbp:inheritance autosomal dominant
gptkbp:mutationAssociatedWith gptkb:COL4A1_gene
gptkbp:OMIM 611773
gptkbp:symptom gptkb:nephropathy
muscle cramps
aneurysms
angiopathy
gptkbp:bfsParent gptkb:COL4A1
gptkbp:bfsLayer 7
https://www.w3.org/2000/01/rdf-schema#label hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome