The HANAC syndrome is an autosomal dominant disorder caused by COL4A1 mutations whose clinical features include hereditary angiopathy with nephropathy, aneurysm and cramps.
By contrast to porencephaly, an autosomal disorder caused by mutations of the same gene, the cerebral phenotype is silent.
HANAC responsible mutations seem to cluster in the CB3[IV] domaine.
Plaisier E et al. (2005) Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome.[^]
Gould DB et al. (2005) Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.[^]
Gekeler F et al. (2006) Familial retinal arterial tortuosity associated with tortuosity in nail bed capillaries.[^]
Gould DB et al. (2007) Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis.[^]
Plaisier E et al. (2007) COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.[^]
Alamowitch S et al. (2009) Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.[^]
Van Agtmael T et al. (2010) Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume.[^]
Plaisier E et al. (2010) Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.[^]