|
HSD17B10
|
0.750 |
Biomarker
|
phenotype |
BEFREE |
HSD10 mitochondrial disease (HSD10MD), originally described as a deficiency of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD), is a rare X-linked disorder of a moonlighting protein encoded by the HSD17B10.
|
31654490 |
2019 |
|
HSD17B10
|
0.750 |
GeneticVariation
|
phenotype |
UNIPROT |
Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.
|
28888424 |
2017 |
|
HSD17B10
|
0.750 |
Biomarker
|
phenotype |
CLINGEN |
Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.
|
28888424 |
2017 |
|
HSD17B10
|
0.750 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
HSD17B10
|
0.750 |
Biomarker
|
phenotype |
BEFREE |
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
|
0.750 |
GeneticVariation
|
phenotype |
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
|
0.750 |
Biomarker
|
phenotype |
CTD_human |
Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships.
|
25526675 |
2015 |
|
HSD17B10
|
0.750 |
GeneticVariation
|
phenotype |
UNIPROT |
Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.
|
25575635 |
2015 |
|
HSD17B10
|
0.750 |
GeneticVariation
|
phenotype |
UNIPROT |
Missense mutations in SDR5C1 cause a disease characterized by progressive neurodegeneration and cardiomyopathy, called HSD10 disease.
|
25925575 |
2015 |
|
HSD17B10
|
0.750 |
Biomarker
|
phenotype |
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
|
0.750 |
Biomarker
|
phenotype |
BEFREE |
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (2M3HBD) deficiency (HSD10 disease) is a rare inborn error of metabolism, and <30 cases have been reported worldwide.
|
25231369 |
2014 |
|
HSD17B10
|
0.750 |
Biomarker
|
phenotype |
BEFREE |
The created databases include ACAD8 (isobutyryl-CoA dehydrogenase deficiency (IBD)), ACADSB (short-chain acyl-CoA dehydrogenase (SCAD) deficiency), AUH (3-methylglutaconic aciduria (3-MGCA)), DHCR7 (Smith-Lemli-Opitz syndrome), HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency), HSD17B10 (17-beta-hydroxysteroid dehydrogenase X deficiency), FKBP14 (Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EDSKMH) and ROGDI (Kohlschütter-Tönz syndrome).
|
25111118 |
2014 |
|
HSD17B10
|
0.750 |
GeneticVariation
|
phenotype |
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
|
0.750 |
GeneticVariation
|
phenotype |
UNIPROT |
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
|
22132097 |
2011 |
|
HSD17B10
|
0.750 |
Biomarker
|
phenotype |
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
|
0.750 |
Biomarker
|
phenotype |
CLINGEN |
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
|
22132097 |
2011 |
|
HSD17B10
|
0.750 |
GeneticVariation
|
phenotype |
UNIPROT |
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
|
20077426 |
2010 |
|
HSD17B10
|
0.750 |
Biomarker
|
phenotype |
CLINGEN |
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
|
20077426 |
2010 |
|
HSD17B10
|
0.750 |
Biomarker
|
phenotype |
CLINGEN |
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.
|
18996107 |
2009 |
|
HSD17B10
|
0.750 |
Biomarker
|
phenotype |
CLINGEN |
Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.
|
19706438 |
2009 |
|
HSD17B10
|
0.750 |
GeneticVariation
|
phenotype |
UNIPROT |
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.
|
18996107 |
2009 |
|
HSD17B10
|
0.750 |
GeneticVariation
|
phenotype |
UNIPROT |
Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.
|
19706438 |
2009 |
|
HSD17B10
|
0.750 |
GeneticVariation
|
phenotype |
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
|
0.750 |
AlteredExpression
|
phenotype |
BEFREE |
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
|
0.750 |
Biomarker
|
phenotype |
CLINGEN |
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
|
16176262 |
2005 |