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 These results suggested that STS gene deficiency is heterogeneous in Japanese families with XLI. 8615047 1995
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 Recessive X-linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme. 29672931 2019
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE We report the first case of a patient with both XLI and DEB in whom a partial deletion of the STS gene and a recessive point mutation in COL7A1 were demonstrated. 20523032 2010
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 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 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 GeneticVariation disease BEFREE PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene. 10679952 2000
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE Submicroscopic deletions at Xp22.31 involving STS and ANOS1 (alias KAL1) underlie X-linked ichthyosis and Kallmann syndrome, respectively. 28253503 2017
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE Ocular albinism of the Nettleship-Falls type (OA1) and X-linked ichthyosis (XI) due to steroid sulfatase (STS) deficiency are cosegregating in three cytogenetically normal half-brothers. 2573275 1989
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE The clinical diagnosis of XLI was confirmed molecularly by laboratory evidence of a maternal 1.61 M deletion (including the STS gene) on ChrXp22.31. 26676689 2016
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE X-linked ichthyosis (XLI) is often associated with a recurrent microdeletion at Xp22.31 due to non-allelic homologous recombination between the CRI-S232 low-copy repeat regions flanking the STS gene. 15888481 2005
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome. 293682 1979
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE Pre-Descemet corneal dystrophy and X-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene. 23807007 2013
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE Absence of steroid sulphatase activity and a complete deletion of the STS gene were demonstrated in both patients with XLI. 10396356 1999
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.800 GeneticVariation disease BEFREE Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population. 20236202 2010
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 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 BEFREE X-linked recessive ichthyosis (XLRI) is due to deletions or inactivating mutations in the steroid sulfatase (STS) gene. 22486194 2012
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 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 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 BEFREE Additional samples were collected from the forearms of subjects with ichthyosis vulgaris (filaggrin (FLG) deficiency), recessive X-linked ichthyosis (steroid sulfatase (STS) deficiency) and autosomal recessive congenital ichthyosis type lamellar ichthyosis (transglutaminase 1 (TGM1) deficiency). 24130705 2013
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 It is known that an undetectable maternal serum, unconjugated estriol, associated with placental steroid sulfatase (STS) deficiency, may be the cause of cause of XLI. 14641695 2003