Disease: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2673195
Disease: Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 		0.010 GeneticVariation disease BEFREE Using targeted next-generation sequencing of 65 candidate genes in a patient with an ADPKD-like phenotype who lacked the familial PKD2 mutation, we identified a COL4A1 mutation (p.Gln247*) and made the diagnosis of HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome. 29395486 2018