disease has basis in dysfunction of COL4A1 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures. GARD:0010889 HANAC HANAC syndrome ICD10:I99 ICD9:758.89 MESH:C567088 MONDO:0012726 OMIM:611773 Orphanet:73229 SCTID:702428000 UMLS:C2673195 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy disease of glomerular basement membrane