×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
GermlineCausalMutation
ORPHANET
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
GeneticVariation
CLINVAR
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
Biomarker
GENOMICS_ENGLAND
×
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
CausalMutation
CLINVAR
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
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
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
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
CausalMutation
CLINVAR
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
CausalMutation
CLINVAR
17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations.
10599740
1999
×
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
Biomarker
BEFREE
Due to an increased basal serum ratio of androstenedione/testosterone, 17 beta-hydroxysteroid dehydrogenase type 3 (17 beta-HSD 3) deficiency was initially suspected.
15745934
2005
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
CausalMutation
CLINVAR
17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.
17509588
2008
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
GeneticVariation
BEFREE
Mutations in the HSD17B3 gene are associated with a rare form of 46,XY disorder of sex development referred to as 17betaHSD3 deficiency (or as 17-ketosteroid reductase deficiency ), due to impaired testicular conversion of Delta4-A into T. 46,XY patients with 17betaHSD3 deficiency are usually classified as female at birth, raised as such, but develop secondary male features at puberty.
18296911
2008
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
CausalMutation
CLINVAR
17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.
19498320
2009
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
CausalMutation
CLINVAR
Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis.
21214500
2011
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
CausalMutation
CLINVAR
17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings.
22212252
2011
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
GeneticVariation
BEFREE
The novel large duplication spanning exons 3-10 of the HSD17B3 gene that we report here in compound heterozygosity with the known p.R80Q leads to 17β-HSD-3 deficiency presenting as 46,XY Disorder of Sex Development.
22445608
2012
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
CausalMutation
CLINVAR
Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.
23295294
2012
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
CausalMutation
CLINVAR
Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?
24025597
2013
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
GeneticVariation
BEFREE
Here, we report a patient with a novel mutation in HSD17B3 gene leading to 17β-HSD3 deficiency .
25064799
2015
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
Biomarker
CTD_human
Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships.
25526675
2015
×
Entrez Id:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
GeneticVariation
BEFREE
Sanger sequencing of the HSD17B3 gene confirmed 17β-HSD3 deficiency in both patients.
25536660
2015
×
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:
3293
Gene Symbol:
HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790
GeneticVariation
BEFREE
Mutations in the HSD17B3 gene causing 17β-HSD3 deficiency are responsible for a rare recessive form of 46, XY Disorders of Sex Development (46, XY DSD).
26956191
2017