SRD5A2, steroid 5 alpha-reductase 2, 6716

N. diseases: 106; N. variants: 55
Disease: Primary physiologic amenorrhea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		0.020 Biomarker disease BEFREE Although rare, SRD5A2 gene defect should be suspected in any girl presenting with PA and virilisation at puberty. 22001134 2012
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		0.020 GeneticVariation disease BEFREE We report four srd5A2 gene mutations in three adolescents and one young woman with 46,XY primary amenorrhea. 20850730 2011