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 GeneticVariation disease BEFREE We report four srd5A2 gene mutations in three adolescents and one young woman with 46,XY primary amenorrhea. 20850730 2011
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