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.
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
Search interest in ITGA6
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 United States.
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 United States.
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 United States.
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 United States.
ITGA6 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ITGA6 gene.
More info about this panel Germany.
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 Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 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.
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 Germany.
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 Germany.
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 Spain.
ITGA6 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ITGA6 gene.
More info about this panel United States.
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 Finland.
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 Spain.
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 Spain.
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 Spain.
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 Canada.
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