ITGA6 gene related symptoms and diseases

All the information presented here about the ITGA6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ITGA6 gene

Symptoms // Phenotype % Cases
Diarrhea Very Common - Between 80% and 100% cases
Intractable diarrhea Very Common - Between 80% and 100% cases
Aplasia cutis congenita Very Common - Between 80% and 100% cases
Esophageal atresia Very Common - Between 80% and 100% cases
Intestinal atresia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ITGA6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Oral mucosal blisters
  • Renal duplication
  • Ureterocele
  • Urethral stricture
  • Atrophic scars
  • Axillary pterygium
  • Elevated amniotic fluid alpha-fetoprotein
  • Congenital localized absence of skin

And 25 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ITGA6 gene

Here you will find a list of rare diseases related to the ITGA6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


JUNCTIONAL EPIDERMOLYSIS BULLOSA-PYLORIC ATRESIA SYNDROME


Alternate names

JUNCTIONAL EPIDERMOLYSIS BULLOSA-PYLORIC ATRESIA SYNDROME Is also known as aplasia cutis congenita with gastrointestinal atresia, epidermolysis bullosa, junctional, with pyloric atresia, epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita, eb-pa-acc, carmi syndrome, jeb-pa, junctional epidermolysis bull

Description

Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.

Most common symptoms of JUNCTIONAL EPIDERMOLYSIS BULLOSA-PYLORIC ATRESIA SYNDROME

  • Diarrhea
  • Polyhydramnios
  • Hydronephrosis
  • Nail dystrophy
  • Arthrogryposis multiplex congenita


More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA-PYLORIC ATRESIA SYNDROME

SOURCES: ORPHANET MESH OMIM


Potential gene panels for ITGA6 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

ITGA6 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 ITGA6 gene.

More info about this panel

ITGA6 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 ITGA6 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

ITGA6 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ITGA6 gene.

More info about this panel

Epidermolysis bullosa, junctional with pyloric stenosis (sequence analysis ITGA6 of gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ITGA6 gene.

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 junctional (NGS panel for 5 genes) Panel

Portugal.

By CGC Genetics Epidermolysis bullosa junctional (NGS panel for 5 genes) that also includes the following genes: COL17A1 ITGA6 LAMA3 LAMB3 LAMC2

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

Epidermolysis Bullosa with Pyloric Atresia via ITGA6 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ITGA6 gene.

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 junctionalis with pyloric atresia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ITGA6 gene.

More info about this panel

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

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

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

EPIDERMOLYSIS BULLOSA Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases EPIDERMOLYSIS BULLOSA that also includes the following genes: COL17A1 COL7A1 ITGA6 ITGB4 KRT14 KRT5 LAMA3 LAMB3 LAMC2 PLEC

More info about this panel

ITGA6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ITGA6 gene.

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

EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA Panel

Spain.

By Laboratorio de Genetica Clinica SL EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA that also includes the following genes: ITGA6 ITGB4 PLEC

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

Epidermolysis Bullosa with Pyloric Atresia, Panel Massive Sequencing (NGS) ITGB4, ITGA6, PLEC Genes Panel

Spain.

By Reference Laboratory Genetics Epidermolysis Bullosa with Pyloric Atresia, Panel Massive Sequencing (NGS) ITGB4, ITGA6, PLEC Genes that also includes the following genes: ITGA6 ITGB4 PLEC

More info about this panel

Epidermolysis Bullosa with Pyloric Atresia: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Epidermolysis Bullosa with Pyloric Atresia: gene sequencing panel that also includes the following genes: ITGA6 ITGB4 PLEC

More info about this panel


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