MLYCD, malonyl-CoA decarboxylase, 23417

N. diseases: 79; N. variants: 12
Disease: Cardiomyopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.020 GeneticVariation group BEFREE Malonyl-CoA decarboxylase (MCD) deficiency is an extremely rare inborn error of metabolism that presents with metabolic acidosis, hypoglycemia, and/or cardiomyopathy. 16275149 2006
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.020 Biomarker group BEFREE Malonyl-CoA decarboxylase (MLYCD) deficiency is an autosomal recessive disorder characterized by malonic aciduria, developmental delay, seizure disorder, hypoglycemia, and cardiomyopathy. 12955715 2003