GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: neurological pain ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149738
Disease: neurological pain
neurological pain 		0.010 AlteredExpression phenotype BEFREE Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischemic attacks, strokes) signs of the disease while heterozygous females have symptoms ranging from very mild to severe. 21092187 2010