NAGLU, N-acetyl-alpha-glucosaminidase, 4669

N. diseases: 152; N. variants: 98
Disease: Hyperactive behavior ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.120 Biomarker phenotype BEFREE In MPS IIIB, there is a deficiency in the enzyme alpha-N-acetylglucosaminidase (NAGLU) and early clinical symptoms include aggressive behaviour and hyperactivity followed by progressive mental retardation. 9832037 1998
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.120 AlteredExpression phenotype BEFREE Normal alpha-N-acetylglucosaminidase activity was observed in two obligate heterozygotes (the proband's father and her maternal grandmother), suggesting that in addition to the normal and defective alleles, a third, hyperactive allele is also present in this family. 1606713 1992
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.120 Biomarker phenotype HPO
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.120 CausalMutation phenotype CLINVAR