PedAM

Pediatric Disease Annotations & Medicines

Disease	aneurysm
Phenotype	C0042373\|angiopathy
Sentences	6
PubMedID- 20056676	Collagen type iv is the major structural component of the basement membrane and col4a1 mutations cause adult small vessel disease, familial porencephaly and hereditary angiopathy with nephropathy aneurysm and cramps (hanac) syndrome.
PubMedID- 21527998	The spectrum of col4a1-related disorders included porencephaly (omim 175780) [53-55], hereditary angiopathy with nephropathy, aneurysm and muscle cramps (hanac; omim 611773) [56], and brain small vessel disease with hemorrhage (omim 607595) [57].
PubMedID- 21970406	The important role of collagen type iv is illustrated by the clinical consequences of collagen iv mutations leading to, for example, alport syndrome caused by mutations in the α3 chain, hanac syndrome (hereditary angiopathy with nephropathy, aneurysm and cramps) caused by mutations in the α1 chain, defects in bowman's capsule consisting of hypertrophy of parietal epithelium caused by α1 mutations, anterior segment dysgenesis caused by α1 mutations and axenfeld syndrome caused by α5 mutations [8,9].
PubMedID- 21058051	Also reviewed is recent progress in understanding single-gene disorders in which stroke is a major feature of the phenotype, including cadasil, carasil, hereditary angiopathy with nephropathy, aneurysm and muscle cramps, and fabry disease and progress in pharmacogenomics as it relates to response to antiplatelet therapy.
PubMedID- 24001601	For example, in humans, col4a1 mutations affecting the cb3 integrin-binding domain of α1.α1.α2(iv) lead to an apparent clinical sub-entity called hanac (hereditary angiopathy with nephropathy, aneurysm and muscle cramps) syndrome (3,4), and in mice, glycine mutations result in more severe phenotypes than mutations affecting lysine residues (5).
PubMedID- 20428923	A cerebrovascular disease, known as hanac syndrome (hereditary angiopathy with nephropathy, aneurysm and muscle cramps), has been described [86].

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