STS, steroid sulfatase, 412

N. diseases: 382; N. variants: 16
Disease: Ichthyosis, X-Linked ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. 6930361 1980
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 AlteredExpression disease BEFREE Because STS plays an important role in androgen metabolism, and elevated levels of dehydroepiandrosterone sulfate have been reported in young men with andogenetic alopecia (AGA), the hypothesis was advanced that men with XRI do not show AGA or develop only mild forms of common baldness. 10828635 2000
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE Boys with XLI and large deletions encompassing STS and NLGN4 are at increased risk of developing autism and related disorders. 18413370 2008
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein. 9252398 1997
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease UNIPROT Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein. 9252398 1997
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 Biomarker disease GENOMICS_ENGLAND Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein. 9252398 1997
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE CNV-Seq analysis of the maternal white blood cell DNA archived from the original two NIPT blood samples identified small CNVs spanning the STS gene, which is associated with X-linked ichthyosis. 25689220 2015
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 AlteredExpression disease BEFREE Complementation for ASC activity was also seen in hybrids between MSDv and X-linked ichthyosis (XLI), and between MSD and XLI. 3116328 1987
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 AlteredExpression disease BEFREE Correspondingly, steroid sulfatase (STS) testing revealed STS deficiency in the first patient and normal STS activity in the second patient, thus excluding X-linked recessive ichthyosis. 6584254 1984
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE Deletion of the entire steroid sulfatase (STS) gene is the most common molecular defect in X-linked ichthyosis (XLI) patients. 10759956 2000
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 Biomarker disease BEFREE DNA from two patients with steroid sulfatase deficiency and X-linked ichthyosis did not hybridize with STS-3. 3034252 1987
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE Egyptian males complaining of X-linked ichthyosis were clinically examined, evaluating pedigree analysis of the family, cytogenetic studies using G-banding technique and FISH using locus specific probe for steroid sulfatase (STS) gene which is located at chromosome Xp22.3. 20941942 2010
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 Biomarker disease BEFREE Enhancement of polaron-hopping-based a.c. conduction in semiconducting STS (Se-Te-Sn) glass by silver incorporation. 30014053 2018
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE For the time being, the main conclusion derived from these data is that STS deficiency is not a sine qua non for X-linked ichthyosis which may also result from a mutational event at an X-chromosomal site genetically unlinked to the STS locus. 8588575 1995
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE Further studies are required to determine whether the STS gene or the co-deleted flanking sequences are the cause of renal disease associated with XLI. 23939749 2013
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE Furthermore, his mother's brothers suffered from mild XLI and only had a deletion encompassing the STS. 28710038 2017
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 Biomarker disease GENOMICS_ENGLAND However, some patients with the classical XLI phenotype and complete STS deficiency do not show any detectable deletions by Southern blot analysis using full-length STS cDNA as a probe. 1539590 1992
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease UNIPROT However, some patients with the classical XLI phenotype and complete STS deficiency do not show any detectable deletions by Southern blot analysis using full-length STS cDNA as a probe. 1539590 1992
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE In a patient of XLI exhibiting a normal amplifying pattern with predicted sizes of the STS gene, a novel mutation was found resulting in the appearance of a stop codon in exon 7 of the STS gene. 9242515 1997
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 Biomarker disease BEFREE In addition to FLG genotyping, the STS gene was analyzed to exclude X-linked recessive ichthyosis (XLI). 22164253 2011
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE In more than 80% of XLI patients the enzyme deficiency is due to large deletions involving the entire STS gene and flanking sequences. 1539590 1992
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE In the present study, we analyzed 80 Mexican patients with XLI and complete deletion of the STS gene. 11844872 2001
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE In this study, we investigated the deletion patterns of the STS gene and flanking regions in 12 unrelated Japanese patients with XLI using the polymerase chain reaction method with 10 markers, including the 5' and 3' ends of the STS gene. 9764155 1998
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease UNIPROT In vitro steroid sulfatase cDNA expression using site-directed mutagenesis revealed that these mutations are in fact pathogenic and reflect the levels of steroid sulfatase enzyme activities in each of the X-linked ichthyosis patients. 10844566 2000
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 AlteredExpression disease BEFREE In vitro steroid sulfatase cDNA expression using site-directed mutagenesis revealed that these mutations are in fact pathogenic and reflect the levels of steroid sulfatase enzyme activities in each of the X-linked ichthyosis patients. 10844566 2000