HANAC syndrome

A rare multisystemic disease characterized by small-vessel brain disease, cerebral aneurysm, and extracerebral findings involving the kidney, muscle, and small vessels of the eye.

Nephropathy

A nonspecific term referring to disease or damage of the kidneys.


Total: 2

                       


(per page)
PMID (PMCID)
25873210
 MIXED_SAMPLE Adult
Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A, Cavalieri S, Di Gregorio E, Rigault De Longrais R, Leombruni S, Pinessi L, Cerrato P, Brusco A, Brussino A.
J Neurol Sci. 2015;352(1-2):99-104.
Mutations in COL4A1, encoding one of the six collagen type IV proteins, cover a wide spectrum of autosomal dominant overlapping phenotypes including porencephaly, small-vessel disease and hemorrhagic stroke, leukoencephalopathy, hereditary angiopathy with nephropathy, aneurysms and muscle cramp (HANAC) syndrome, and Walker-Warburg syndrome.
22522439
(3335762)
 MIXED_SAMPLE
COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.
Weng YC, Sonni A, Labelle-Dumais C, de Leau M, Kauffman WB, Jeanne M, Biffi A, Greenberg SM, Rosand J, Gould DB.
Ann Neurol. 2012;71(4):470-7.
The effects of rare coding variants on COL4A1 biosynthesis were compared to previously validated mutations that cause porencephaly, small vessel disease, and hereditary angiopathy, nephropathy, aneurysms, and cramps (HANAC) syndrome.