×
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
GeneticVariation
UNIPROT
Here, a novel C268Y substitution mutation in exon 10 of the HSD17B3 gene, in a subject with 17 beta-HSD 3 deficiency , is reported.
11158067 2001
×
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
GeneticVariation
UNIPROT
Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.
8075637 1994
×
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
GeneticVariation
UNIPROT
A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.
9758445 1998
×
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
GeneticVariation
UNIPROT
Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3).
9709959 1998
×
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
GeneticVariation
UNIPROT
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
8550739 1996
×
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
GeneticVariation
UNIPROT
Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development.
26545797 2016
×
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
0.700
GeneticVariation
UNIPROT
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
23141293 2012
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
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
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
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
This confirms that MHBD deficiency is caused by mutations in the HADH2 gene.
12696021 2003
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
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
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
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
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
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
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
×
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
2-Methylbutyryl-CoA Dehydrogenase Deficiency
0.700
GeneticVariation
UNIPROT
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
16317551 2006
×
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
2-Methylbutyryl-CoA Dehydrogenase Deficiency
0.700
GeneticVariation
UNIPROT
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.
10832746 2000
×
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
22q13.3 Deletion Syndrome
1.000
GeneticVariation
UNIPROT
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.
23758760 2013
×
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
22q13.3 Deletion Syndrome
1.000
GeneticVariation
UNIPROT
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.24132240 2013
×
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
22q13.3 Deletion Syndrome
1.000
GeneticVariation
UNIPROT
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.
22892527 2013
×
Entrez Id: 3284
Gene Symbol: HSD3B2
HSD3B2
3 beta-Hydroxysteroid dehydrogenase deficiency
0.780
GeneticVariation
UNIPROT
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency : identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.
10599696 1999