STS gene related symptoms and diseases
All the information presented here about the STS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to STS gene
Symptoms // Phenotype | % Cases |
---|---|
Cryptorchidism | Very Common - Between 80% and 100% cases |
Hyperkeratosis | Very Common - Between 80% and 100% cases |
Ichthyosis | Very Common - Between 80% and 100% cases |
Autism | Common - Between 50% and 80% cases |
Attention deficit hyperactivity disorder | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with STS gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypohidrosis
- Opacification of the corneal stroma
- Hypogonadism
- Corneal opacity
Not very common - Between 30% and 50% cases
- Unilateral renal agenesis
- Short stature
- Renal insufficiency
- Lissencephaly
And 21 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to STS gene
Here you will find a list of rare diseases related to the STS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
RECESSIVE X-LINKED ICHTHYOSIS
Alternate names
RECESSIVE X-LINKED ICHTHYOSIS Is also known as x-linked ichthyosis, rxli, xli, steroid sulfatase deficiency
Description
Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.
Most common symptoms of RECESSIVE X-LINKED ICHTHYOSIS
- Cryptorchidism
- Hyperkeratosis
- Autism
- Attention deficit hyperactivity disorder
- Neurological speech impairment
More info about RECESSIVE X-LINKED ICHTHYOSIS
SOURCES: ORPHANET
ICHTHYOSIS, X-LINKED; XLI
Alternate names
ICHTHYOSIS, X-LINKED; XLI Is also known as ssdd, placental steroid sulfatase deficiency, sts deficiency, steroid sulfatase deficiency, steroid sulfatase deficiency disease
Description
X-linked ichthyosis is clinically characterized by widespread, dark brown, polygonal scales and generalized dryness. Cutaneous manifestations are present soon after birth and usually do not improve with age. The histopathology of XLI typically shows compact hyperkeratosis and slight acanthosis with a normal granular layer (summary by Takeichi and Akiyama, 2016).X-linked ichthyosis is fundamentally the same disorder as placental steroid sulfatase deficiency, which is often first noted in the pregnant mother of affected males by decreased estrogen or delayed progression of parturition (Alperin and Shapiro, 1997). This is thus an example of affinity ('lumping') of phenotypes thought previously to be separate, the opposite of genetic heterogeneity.Schnyder (1970) gave a useful classification of the inherited ichthyoses.Hernandez-Martin et al. (1999) provided a comprehensive review of X-linked ichthyosis. They pointed out that among all genetic disorders X-linked ichthyosis shows one of the highest ratios of chromosomal deletions; complete deletion has been found in up to 90% of patients.Takeichi and Akiyama (2016) reviewed inherited nonsyndromic forms of ichthyosis.
Most common symptoms of ICHTHYOSIS, X-LINKED; XLI
- Neoplasm
- Cryptorchidism
- Abnormality of metabolism/homeostasis
- Hypogonadism
- Hyperkeratosis
More info about ICHTHYOSIS, X-LINKED; XLI
SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS
Alternate names
SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS Is also known as recessive x-linked ichthyosis with extracutaneous manifestations, syndromic rxli
Description
Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.
Most common symptoms of SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Cryptorchidism
More info about SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS
SOURCES: ORPHANET
Search interest in STS
Potential gene panels for STS gene
STS Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the STS gene.
More info about this panelSTS. MLPA testing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the STS gene.
More info about this panelSTS. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the STS gene.
More info about this panelIchthyosis, X-Linked (delection/duplication analysis of STS gene) Panel
By CGC Genetics
This panel specifically test the STS gene.
More info about this panelIchthyosis, X-linked (sequence analysis of STS gene) Panel
By CGC Genetics
This panel specifically test the STS gene.
More info about this panelHereditary ichthyosis (NGS panel of 53 genes) Panel
By CGC Genetics Hereditary ichthyosis (NGS panel of 53 genes) that also includes the following genes: SLC27A4 SNAP29 ST14 STIM1 STS TGM1 TGM5 SHOC2 SPINK5 SLURP1
More info about this panelHereditary ichthyosis (NGS panel of 53 genes) Panel
By CGC Genetics Hereditary ichthyosis (NGS panel of 53 genes) that also includes the following genes: SLC27A4 SNAP29 ST14 STIM1 STS TGM1 TGM5 SHOC2 SPINK5 SLURP1
More info about this panelX-linked ichthyosis , STS Panel
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the STS gene.
More info about this panelIchthyosis, X-Linked Panel
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the STS gene.
More info about this panelIchthyosis Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Ichthyosis Deletion / Duplication panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN
More info about this panelIchthyosis NGS panel Panel
By Connective Tissue Gene Tests Ichthyosis NGS panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN
More info about this panelIchthyosis Comprehensive panel Panel
By Connective Tissue Gene Tests Ichthyosis Comprehensive panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN
More info about this panelX-linked Ichthyosis with steryl-sulfatase deficiency Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the STS gene.
More info about this panelIchthyosis, X-linked Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the STS gene.
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelIchthyoses and related disorders of cornification Panel Panel
By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL
More info about this panelICHTHYOSIS, X-LINKED (STS) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the STS gene.
More info about this panelICHTHYOSIS, X-LINKED (STS MLPA) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the STS gene.
More info about this panelSTS Panel
By Division Human Genetics Medical University Innsbruck
This panel specifically test the STS gene.
More info about this panelqChip Panel
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panelIchthyosis, X-linked: STS gene deletions-duplications analysis (MLPA) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the STS gene.
More info about this panelNEPHROTIC SYNDROME Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NEPHROTIC SYNDROME that also includes the following genes: STS TRPC6 WT1 NPHS2 CD2AP PLCE1 COQ6 INF2 ITGA3 LAMB2
More info about this panelSTS Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the STS gene.
More info about this panelX-chromosome High Resolution microarray analysis Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panelIchthyosis Panel Panel
By Blueprint Genetics Ichthyosis Panel that also includes the following genes: SLC27A4 STS TGM1 ALOXE3 ABCA12 MBTPS2 SPINK5 MPLKIP CDSN SUMF1
More info about this panelIchthyosis, X-linked Panel
By Bioarray
This panel specifically test the STS gene.
More info about this panelRapid microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelICHTHYOSIS (X-LINKED) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the STS gene.
More info about this panelX-Linked Ichthyosis , Sequencing STS Gene Panel
By Reference Laboratory Genetics
This panel specifically test the STS gene.
More info about this panelX-Linked Ichthyosis , Deletions-Duplications (MLPA) STS Gene Panel
By Reference Laboratory Genetics
This panel specifically test the STS gene.
More info about this panelCongenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel
By Reference Laboratory Genetics Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes that also includes the following genes: SLC27A4 SNAP29 ST14 STS TGM1 TGM5 ALOXE3 ABCA12 SPINK5 MPLKIP
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