SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 Biomarker disease BEFREE 46,XX/SRY-negative true hermaphrodite. 20451191 2010
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 Biomarker disease BEFREE XX Maleness and XX true hermaphroditism in SRY-negative monozygotic twins: additional evidence for a common origin. 18056774 2008
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 GeneticVariation disease BEFREE The genetic basis for XX true hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear. 18085567 2008
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 Biomarker disease BEFREE Genetic heterogeneity has been proposed as a cause of dual gonadal development in some cases and recently, hidden mosaicism was reported to cause TH in some 46,XX SRY negative patients. 15378545 2004
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 GeneticVariation disease BEFREE Several years ago, we presented a patient with true hermaphroditism and partial duplication of chromosome 22 and no evidence of SRY (Aleck et al.[1999: Am J Med Genet 85:2-4]). 14556248 2003
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 GeneticVariation disease BEFREE True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene. 12793612 2003
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 Biomarker disease BEFREE We conclude that fluorescence in situ hybridization (FISH) analysis with SRY probes is highly recommended and allows accurate diagnosis and optimal management in cases of 46,XX hermaphroditism and ambiguous genitalia. 12503111 2003
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 Biomarker disease BEFREE We ascertained the presence of the SRY gene and SRY protein in the ovotestis. 11912443 2002
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 GermlineCausalMutation disease ORPHANET We ascertained the presence of the SRY gene and SRY protein in the ovotestis. 11912443 2002
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 Biomarker disease BEFREE Our results using PCR and FISH analyses reveal the presence of hidden mosaicism for SRY or other Y sequences in some patients with XX true hermaphroditism and confirms that mosaicism for SRY limited to the gonads is an alternative mechanism for testicular development in 46,XX true hermaphrodites. 12215841 2002
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 Biomarker disease BEFREE SRY protein is detected in the nuclei of Sertoli cells of the testis and in the nuclei of granulosa cells in the ovotestis in these patients and in the nuclei of germ cells of both tissue types. 11748609 2001
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 GeneticVariation disease BEFREE Transfer of Yp sequences, including the testis-determining SRY gene, to the terminal portion of the short arm of the X chromosome is associated with 46,XX maleness and in rare cases 46,XX true hermaphroditism. 11480910 2001
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 Biomarker disease BEFREE Hidden Y mosaicism in gonadal tissues was also ruled out in two cases, suggesting that cryptic SRY mosaicism in gonadal tissues is not the usual mechanism responsible for testicular development in patients with 46,XX true hermaphroditism. 11257728 2001
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 Biomarker disease BEFREE SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite. 10602113 2000
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 AlteredExpression disease BEFREE We have also analyzed SRY protein expression in the ovotestis from 46,XX true hermaphrodites and 46,XX/46,XY mosaicism, demonstrating SRY protein expression in both testicular and ovarian portions in these patients. 11173859 2000
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 GeneticVariation disease BEFREE True hermaphroditism with partial duplication of chromosome 22 and without SRY. 10377005 1999
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 AlteredExpression disease BEFREE Sry gene was observed in all cases of MPH and each case of MGD and sex reversal in contrast to bare expression in all cases of FPH and most of TH. 9250915 1997
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 GeneticVariation disease BEFREE XX true hermaphroditism in southern African blacks: exclusion of SRY sequences and uniparental disomy of the X chromosome. 7702097 1995
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 GermlineCausalMutation disease ORPHANET The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism. 1740318 1992
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.500 Biomarker disease HPO