|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
GeneticVariation |
UNIPROT |
Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.
|
28888424 |
2017 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
Biomarker |
CLINGEN |
Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.
|
28888424 |
2017 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
Biomarker |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
GeneticVariation |
UNIPROT |
Mutations in HSD17B10 cause the HSD10 disease, traditionally classified as a metabolic disorder due to the role of SDR5C1 in fatty and amino acid metabolism.
|
26950678 |
2016 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
Biomarker |
CTD_human |
Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships.
|
25526675 |
2015 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
GeneticVariation |
UNIPROT |
Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.
|
25575635 |
2015 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
GeneticVariation |
UNIPROT |
Missense mutations in SDR5C1 cause a disease characterized by progressive neurodegeneration and cardiomyopathy, called HSD10 disease.
|
25925575 |
2015 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
Biomarker |
CLINGEN |
Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
|
24549042 |
2014 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
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 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
GeneticVariation |
UNIPROT |
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
|
22132097 |
2011 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
Biomarker |
GENOMICS_ENGLAND |
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
|
22132097 |
2011 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
Biomarker |
CLINGEN |
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
|
22132097 |
2011 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
GeneticVariation |
UNIPROT |
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
|
20077426 |
2010 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
Biomarker |
CLINGEN |
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
|
20077426 |
2010 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
Biomarker |
CLINGEN |
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.
|
18996107 |
2009 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
Biomarker |
CLINGEN |
Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.
|
19706438 |
2009 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
GeneticVariation |
UNIPROT |
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.
|
18996107 |
2009 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
GeneticVariation |
UNIPROT |
Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.
|
19706438 |
2009 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
GeneticVariation |
UNIPROT |
Our data therefore strongly suggest that reduced expression of the HADH2 protein causes MRXS10, a phenotype different from that caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, which is a neurodegenerative disorder caused by missense mutations in this multifunctional protein.
|
17236142 |
2007 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
Biomarker |
CLINGEN |
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
|
16176262 |
2005 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
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 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
GeneticVariation |
UNIPROT |
This confirms that MHBD deficiency is caused by mutations in the HADH2 gene.
|
12696021 |
2003 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
Biomarker |
CLINGEN |
This confirms that MHBD deficiency is caused by mutations in the HADH2 gene.
|
12696021 |
2003 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
Biomarker |
CLINGEN |
Characterization and localization of human type10 17beta-hydroxysteroid dehydrogenase.
|
11559359 |
2001 |
|
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
Biomarker |
GENOMICS_ENGLAND |
A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.
|
10521307 |
1999 |