DST gene related symptoms and diseases

All the information presented here about the DST gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DST gene

Symptoms // Phenotype % Cases
Scarring Very Common - Between 80% and 100% cases
Tachycardia Uncommon - Between 30% and 50% cases
Milia Uncommon - Between 30% and 50% cases
Abnormal blistering of the skin Uncommon - Between 30% and 50% cases
Carious teeth Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with DST gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Nail dystrophy
  • Abnormality of the nervous system
  • Blotching pigmentation of the skin
  • Limited hip extension
  • Alacrima
  • Corneal scarring
  • Hand clenching
  • Short chin

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DST gene

Here you will find a list of rare diseases related to the DST. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6


Alternate names

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6 Is also known as familial dysautonomia with contractures, hereditary sensory and autonomic neuropathy type vi, hsan6, hsan vi

Description

Hereditary sensory and autonomic neuropathy type VI is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012).For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (OMIM ).

Most common symptoms of HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Pain


More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6

SOURCES: OMIM ORPHANET

EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO BP230 DEFICIENCY


Alternate names

EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO BP230 DEFICIENCY Is also known as dst-related epidermolysis bullosa simplex, ebs-ar bp230

Description

Epidermolysis bullosa simplex due to BP230 deficiency is a rare, hereditary, basal epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimetres big.

Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO BP230 DEFICIENCY

  • Abnormality of the nervous system
  • Scarring
  • Nail dystrophy
  • Carious teeth
  • Abnormal blistering of the skin


More info about EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO BP230 DEFICIENCY

SOURCES: ORPHANET OMIM


Potential gene panels for DST gene

EBSeq Epidermolysis Bullosa Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center EBSeq Epidermolysis Bullosa Panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CD151 CDSN COL17A1 COL7A1 KLHL24 DSP

More info about this panel

DST Gene Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the DST gene.

More info about this panel

DST Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the DST gene.

More info about this panel

EB (Epidermolysis Bullosa) Deletion/Duplication panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center EB (Epidermolysis Bullosa) Deletion/Duplication panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CD151 CDSN COL17A1 COL7A1 DSP EXPH5

More info about this panel

DST Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the DST gene.

More info about this panel

Epidermolysis bullosa simplex AR (sequence analysis of DST gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DST gene.

More info about this panel

Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel

Portugal.

By CGC Genetics Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: SBF1 SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TWNK

More info about this panel

Epidermolysis bullosa (NGS panel for 18 genes) Panel

Portugal.

By CGC Genetics Epidermolysis bullosa (NGS panel for 18 genes) that also includes the following genes: DST FERMT1 COL17A1 COL7A1 DSP EXPH5 ITGA3 ITGA6 ITGB4 KRT1

More info about this panel

Epidermolysis bullosa simplex (NGS panel for 4 genes) Panel

Portugal.

By CGC Genetics Epidermolysis bullosa simplex (NGS panel for 4 genes) that also includes the following genes: DST KRT14 KRT5 PLEC

More info about this panel

Epidermolysis Bullosa and Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epidermolysis Bullosa and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: DST TGM5 FERMT1 COL17A1 COL7A1 DSP ITGA3 ITGA6 ITGB4 JUP

More info about this panel

Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SCN11A SCN9A DST ATL1 SPTLC1 SPTLC2 PRDM12 WNK1 CCT5 CLTCL1

More info about this panel

Epidermolysis bullosa Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Epidermolysis bullosa Comprehensive panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CDSN COL17A1 COL7A1 CSTA KLHL24 DSP

More info about this panel

Epidermolysis bullosa NGS panel Panel

United States.

By Connective Tissue Gene Tests Epidermolysis bullosa NGS panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CDSN COL17A1 COL7A1 CSTA KLHL24 DSP

More info about this panel

Epidermolysis bullosa Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Epidermolysis bullosa Deletion / Duplication panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CDSN COL17A1 COL7A1 CSTA KLHL24 DSP

More info about this panel

Epidermolysis bullosa simplex, autosomal recessive Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DST gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Epidermolysis bullosa panel Panel

Germany.

By Centogene AG - the Rare Disease Company Epidermolysis bullosa panel that also includes the following genes: DST TGM5 FERMT1 CHST8 COL17A1 COL7A1 CSTA DSG1 DSP EXPH5

More info about this panel

Genetic Epidermolyses and blistering disorders Panel Panel

Germany.

By CeGaT GmbH Genetic Epidermolyses and blistering disorders Panel that also includes the following genes: DST FERMT1 COL17A1 COL7A1 DSP EXPH5 ITGA3 ITGA6 ITGB4 KRT1

More info about this panel

Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel

Germany.

By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2

More info about this panel

Invitae Comprehensive Neuropathies Panel Panel

United States.

By Invitae Invitae Comprehensive Neuropathies Panel that also includes the following genes: SCN11A SCN9A DST SPG11 ATL1 SPTLC1 SPTLC2 TFG TTR UBA1

More info about this panel

Invitae Hereditary Sensory and Autonomic Neuropathy Panel Panel

United States.

By Invitae Invitae Hereditary Sensory and Autonomic Neuropathy Panel that also includes the following genes: SCN11A SCN9A DST ATL1 SPTLC1 SPTLC2 WNK1 ATL3 RETREG1 DNMT1

More info about this panel

DST Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DST gene.

More info about this panel

Charcot-Marie-Tooth Neuropathy Panel Panel

Finland.

By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2

More info about this panel

Epidermolysis Bullosa Panel Panel

Finland.

By Blueprint Genetics Epidermolysis Bullosa Panel that also includes the following genes: DST TGM5 ATP2C1 FERMT1 CDSN GRIP1 DSG4 COL17A1 COL7A1 DSG1

More info about this panel

EPIDERMOLISIS BULLOSA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL EPIDERMOLISIS BULLOSA: NGS PANEL that also includes the following genes: DST TGM5 FERMT1 COL17A1 COL7A1 KLHL24 DSP EXPH5 ITGA3 ITGA6

More info about this panel


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