rs104886492, HSD17B10

N. diseases: 3
Disease: 2-methyl-3-hydroxybutyric aciduria ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
2-methyl-3-hydroxybutyric aciduria
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
0.700 GeneticVariation UNIPROT Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein. 28888424 2017
2-methyl-3-hydroxybutyric aciduria
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
0.700 GeneticVariation UNIPROT A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression. 26950678 2016
2-methyl-3-hydroxybutyric aciduria
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
0.700 GeneticVariation UNIPROT Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. 25575635 2015
2-methyl-3-hydroxybutyric aciduria
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
0.700 GeneticVariation UNIPROT Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex. 25925575 2015
2-methyl-3-hydroxybutyric aciduria
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
0.700 GeneticVariation UNIPROT Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts. 24549042 2014
2-methyl-3-hydroxybutyric aciduria
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
0.700 GeneticVariation UNIPROT A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability. 22132097 2011
2-methyl-3-hydroxybutyric aciduria
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
0.700 GeneticVariation UNIPROT A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. 20077426 2010
2-methyl-3-hydroxybutyric aciduria
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
0.700 GeneticVariation UNIPROT Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism. 19706438 2009
2-methyl-3-hydroxybutyric aciduria
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
0.700 GeneticVariation UNIPROT Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis. 18996107 2009
2-methyl-3-hydroxybutyric aciduria
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
0.700 GeneticVariation UNIPROT The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. 17236142 2007
2-methyl-3-hydroxybutyric aciduria
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
0.700 GeneticVariation UNIPROT 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. 16148061 2005
2-methyl-3-hydroxybutyric aciduria
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
0.700 GeneticVariation UNIPROT 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. 12696021 2003