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

SOURCES: OMIM ORPHANET

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


Potential gene panels for STS gene

STS Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the STS gene.

More info about this panel
Germany.

STS. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the STS gene.

More info about this panel
Spain.

STS. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the STS gene.

More info about this panel
Spain.

Ichthyosis, X-Linked (delection/duplication analysis of STS gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the STS gene.

More info about this panel
Portugal.

Ichthyosis, X-linked (sequence analysis of STS gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the STS gene.

More info about this panel
Portugal.

Hereditary ichthyosis (NGS panel of 53 genes) Panel

Portugal.

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 panel
Portugal.

Hereditary ichthyosis (NGS panel of 53 genes) Panel

Portugal.

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 panel
Portugal.

X-linked ichthyosis , STS Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the STS gene.

More info about this panel
India.

Ichthyosis, X-Linked Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the STS gene.

More info about this panel
India.

Ichthyosis Deletion / Duplication panel Panel

United States.

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 panel
United States.

Ichthyosis NGS panel Panel

United States.

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 panel
United States.

Ichthyosis Comprehensive panel Panel

United States.

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 panel
United States.

X-linked Ichthyosis with steryl-sulfatase deficiency Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"

This panel specifically test the STS gene.

More info about this panel
Argentina.

Ichthyosis, X-linked Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the STS gene.

More info about this panel
Germany.

CentoICU platinum plus Panel

Germany.

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 panel
Germany.

New Born testing (CentoICU) Panel

Germany.

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 panel
Germany.

Ichthyoses and related disorders of cornification Panel Panel

Germany.

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 panel
Germany.

ICHTHYOSIS, X-LINKED (STS) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the STS gene.

More info about this panel
Germany.

ICHTHYOSIS, X-LINKED (STS MLPA) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the STS gene.

More info about this panel
Germany.

STS Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the STS gene.

More info about this panel
Austria.

qChip Panel

Spain.

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 panel
Spain.

Ichthyosis, X-linked: STS gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the STS gene.

More info about this panel
Spain.

NEPHROTIC SYNDROME Panel

Spain.

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 panel
Spain.

STS Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the STS gene.

More info about this panel
United States.

X-chromosome High Resolution microarray analysis Panel

United States.

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 panel
United States.

Ichthyosis Panel Panel

Finland.

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 panel
Finland.

Ichthyosis, X-linked Panel

Spain.

By Bioarray

This panel specifically test the STS gene.

More info about this panel
Spain.

Rapid microarray (CGH and SNP) Panel

United States.

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 panel
United States.

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

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 panel
United States.

ICHTHYOSIS (X-LINKED) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the STS gene.

More info about this panel
Spain.

X-Linked Ichthyosis , Sequencing STS Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the STS gene.

More info about this panel
Spain.

X-Linked Ichthyosis , Deletions-Duplications (MLPA) STS Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the STS gene.

More info about this panel
Spain.

Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel

Spain.

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

More info about this panel
Spain.

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