|
5-Alpha Reductase Deficiency
|
|
0.010 |
GeneticVariation
|
BEFREE |
We reported novel candidate genes (BMPR1B, GNAS, GHR) and regions of copy number variants outside the expected DSD genotype-phenotype correlation, and determined a founder mutation (SRD5A2 p.R227Q) in patients with 5α-reductase deficiency.
|
31277073 |
2019 |
|
Sex Differentiation Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
We reported novel candidate genes (BMPR1B, GNAS, GHR) and regions of copy number variants outside the expected DSD genotype-phenotype correlation, and determined a founder mutation (SRD5A2 p.R227Q) in patients with 5α-reductase deficiency.
|
31277073 |
2019 |
|
Hypospadias
|
|
0.010 |
GeneticVariation
|
BEFREE |
Eight different SRD5A2 mutations were detected in 15 patients with posterior hypospadias (60%, 15/25), including six previously described mutations (p.Q6X, Q71X, p.L20P, p.G203S, p.R227Q, and p.R246Q) and two novel mutations (p.G196R and p.L73Pfs<sup>∗</sup>17).
|
28663096 |
2017 |
|
Penile hypospadias
|
|
0.010 |
GeneticVariation
|
BEFREE |
Eight different SRD5A2 mutations were detected in 15 patients with posterior hypospadias (60%, 15/25), including six previously described mutations (p.Q6X, Q71X, p.L20P, p.G203S, p.R227Q, and p.R246Q) and two novel mutations (p.G196R and p.L73Pfs<sup>∗</sup>17).
|
28663096 |
2017 |
|
Benign Prostatic Hyperplasia
|
|
0.010 |
GeneticVariation
|
BEFREE |
The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hormone status was investigated in men with prostate cancer (CaP) (n=89), benign prostate hyperplasia (n=45) and healthy military conscripts (n=223).
|
16039774 |
2005 |
|
Penis agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The results suggest that, in Japanese patients, micropenis can be caused by SRD5A2 gene mutations, especially by R227Q which has been shown to retain approximately 3.2% of normal enzyme activity and appears relatively frequent in Asian populations, and that V89L polymorphism is unlikely to raise the susceptibility to the development of micropenis.
|
12843198 |
2003 |
|
Malignant neoplasm of prostate
|
|
0.020 |
GeneticVariation
|
BEFREE |
The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hormone status was investigated in men with prostate cancer (CaP) (n=89), benign prostate hyperplasia (n=45) and healthy military conscripts (n=223).
|
16039774 |
2005 |
|
Prostate carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hormone status was investigated in men with prostate cancer (CaP) (n=89), benign prostate hyperplasia (n=45) and healthy military conscripts (n=223).
|
16039774 |
2005 |
|
Prostate carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
To provide etiological clues, we evaluated the relationships of four polymorphic markers in the SRD5A2 gene, specifically, A49T (a substitution of threonine for alanine at codon 49), V89L (a substitution of leucine for valine at codon 89), R227Q (a substitution of glutamine for arginine at codon 227), and a (TA)n dinucleotide repeat, with prostate cancer risk in a population-based case-control study in China, a population with the lowest reported prostate cancer incidence rate in the world.
|
11588134 |
2001 |
|
Malignant neoplasm of prostate
|
|
0.020 |
GeneticVariation
|
BEFREE |
To provide etiological clues, we evaluated the relationships of four polymorphic markers in the SRD5A2 gene, specifically, A49T (a substitution of threonine for alanine at codon 49), V89L (a substitution of leucine for valine at codon 89), R227Q (a substitution of glutamine for arginine at codon 227), and a (TA)n dinucleotide repeat, with prostate cancer risk in a population-based case-control study in China, a population with the lowest reported prostate cancer incidence rate in the world.
|
11588134 |
2001 |
|
Micropenis
|
|
0.710 |
GeneticVariation
|
BEFREE |
The results suggest that, in Japanese patients, micropenis can be caused by SRD5A2 gene mutations, especially by R227Q which has been shown to retain approximately 3.2% of normal enzyme activity and appears relatively frequent in Asian populations, and that V89L polymorphism is unlikely to raise the susceptibility to the development of micropenis.
|
12843198 |
2003 |
|
Micropenis
|
|
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
BEFREE |
We reported novel candidate genes (BMPR1B, GNAS, GHR) and regions of copy number variants outside the expected DSD genotype-phenotype correlation, and determined a founder mutation (SRD5A2 p.R227Q) in patients with 5α-reductase deficiency.
|
31277073 |
2019 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
|
25899528 |
2015 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.
|
25605705 |
2015 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
|
25899528 |
2015 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia.
|
22453073 |
2012 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development.
|
20736251 |
2011 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Diagnosis of 5alpha-reductase 2 deficiency: a local experience.
|
19342739 |
2009 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
UNIPROT |
New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.
|
15770495 |
2005 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family.
|
16098368 |
2005 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
UNIPROT |
SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.
|
16181229 |
2005 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.
|
15064320 |
2004 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene.
|
15528927 |
2004 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Steroid 5alpha-reductase 2 deficiency in two generations of a non-consanguineous Chinese family.
|
14594182 |
2004 |