SRD5A2, steroid 5 alpha-reductase 2, 6716

N. diseases: 106; N. variants: 55
Disease: Pseudovaginal Perineoscrotal Hypospadias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 GeneticVariation disease BEFREE We present detailed phenotypic and genotypic features of a cohort of 24 subjects from a highly consanguineous population of Saudi Arabia SUBJECTS AND METHODS: We studied the clinical presentation and hormonal profiles of 24 subjects diagnosed with 5-α reductase deficiency and performed genetic testing on DNA isolated from their peripheral blood using polymerase chain reaction and direct sequencing of the SRD5A2. 30269266 2019
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 GeneticVariation disease 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
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 GeneticVariation disease BEFREE Mutations in the SRD5A2 gene cause 5-α-Reductase deficiency; although it is an infrequent disorder, it has been reported worldwide, with mutational heterogeneity. 29858846 2018
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency. 28544750 2017
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. 27899157 2016
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR Homozygous p.R246Q Mutation and Impaired Spermatogenesis: Long Term Follow-up of 4 Children from One Family with 5 Alpha Reductase 2 Deficiency. 26446026 2016
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR 5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort. 27070133 2016
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients. 25605705 2015
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 GeneticVariation disease CLINVAR Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China. 25899528 2015
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China. 25899528 2015
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency. 24665940 2014
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR Molecular diagnosis of 5α-reductase deficiency in 4 elite young female athletes through hormonal screening for hyperandrogenism. 23633205 2013
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia. 22453073 2012
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype. 22876553 2012
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR Clinical and genetic analysis of three Chinese patients with steroid 5α-reductase type 2 deficiency. 23329752 2012
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 GeneticVariation disease BEFREE The IVS1-2A>G mutation of the SRD5A2 gene predominates in Greek-Cypriot patients with 5α-reductase deficiency and very likely reflects a founder effect. 22001134 2012
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients. 21147889 2011
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development. 20736251 2011
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients. 20019388 2011
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation. 21631525 2011
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development. 22272144 2011
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic. 21402750 2011
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR A novel SRD5A2 mutation with loss of function identified in Chinese patients with hypospadias. 21540559 2011
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 GeneticVariation disease BEFREE DNAs of two 46,XY DSD Indonesian siblings, aged 13 and 18 years old, with clinically suspected of 5-alpha-reductase deficiency and their mother were analysed for molecular defects of SRD5A2 gene. 21714467 2010
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 GeneticVariation disease BEFREE Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations. 20132346 2010