HLCS, holocarboxylase synthetase, 3141

N. diseases: 63; N. variants: 41
Disease: Multiple Carboxylase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026755
Disease: Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency 		0.090 AlteredExpression disease BEFREE Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder caused by defective activity of biotinidase or holocarboxylase synthetase (HLCS) in the biotin cycle. 20095979 2010
CUI: C0026755
Disease: Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency 		0.090 Biomarker disease BEFREE Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency. 18429047 2008
CUI: C0026755
Disease: Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency 		0.090 GeneticVariation disease BEFREE Holocarboxylase synthetase (HCS) catalyzes the biotinylation of five carboxylases in human cells, and mutations of HCS cause multiple carboxylase deficiency (MCD). 15456772 2004
CUI: C0026755
Disease: Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency 		0.090 Biomarker disease BEFREE An inherited deficiency of HCS results in the disorder 'multiple carboxylase deficiency', which is characterized by reduced activity of all biotin-dependent carboxylases. 14613969 2004
CUI: C0026755
Disease: Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency 		0.090 Biomarker disease BEFREE A deficiency in HCS results in biotin-responsive multiple carboxylase deficiency. 10068510 1999
CUI: C0026755
Disease: Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency 		0.090 Biomarker disease BEFREE A deficiency in HCS results in biotin-responsive multiple carboxylase deficiency (MCD). 8817339 1996
CUI: C0026755
Disease: Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency 		0.090 Biomarker disease BEFREE Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. 3920902 1985
CUI: C0026755
Disease: Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency 		0.090 GeneticVariation disease BEFREE The primary defect in this form of multiple carboxylase deficiency may be in a common holocarboxylase synthetase or in biotin transport. 6794361 1981
CUI: C0026755
Disease: Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency 		0.090 GeneticVariation disease BEFREE Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. 6798072 1981