Home > D. Systemic pathology > Genetic and developmental anomalies > HANAC syndrome
HANAC syndrome
Saturday 5 January 2008
Definition: autosomal dominant hereditary angiopathy with nephropathy, aneurysms, and muscle cramps.
Etiology
germline mutations of COL4A1 in HANAC syndrome
See also
COL4A3, COL4A4, and COL4A5 are other collagen genes that have been implicated in inherited nephropathies in humans.
References
Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, Marro B, Desmettre T, Cohen SY, Roullet E, Dracon M, Fardeau M, Van Agtmael T, Kerjaschki D, Antignac C, Ronco P. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med. 2007 Dec 27;357(26):2687-95. PMID: 18160688