ITGB4 gene related symptoms and diseases
All the information presented here about the ITGB4 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 ITGB4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Abnormal blistering of the skin | Very Common - Between 80% and 100% cases |
| Oral mucosal blisters | Common - Between 50% and 80% cases |
| Milia | Common - Between 50% and 80% cases |
| Aplasia cutis congenita | Uncommon - Between 30% and 50% cases |
| Hypoplasia of dental enamel | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ITGB4 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Nail dystrophy
- Atrophic scars
- Aplasia of the bladder
- Fragile skin
- Anonychia
- Congenital pyloric atresia
- Skin vesicle
- Polyhydramnios
And 61 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ITGB4 gene
Here you will find a list of rare diseases related to the ITGB4. 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
EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
Alternate names
EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED Is also known as epidermolysis bullosa of hands and feet, epidermolysis bullosa simplex, weber-cockayne type, ebs, acral form
Description
Epidermolysis bullosa simplex is a clinically and genetically heterogeneous skin disorder characterized by blistering of the skin following minor physical trauma as a result of cytolysis within the basal epidermal cells. Most forms show autosomal dominant inheritance. The localized form is characterized by localized blistering primarily on the hands and feet (Pfendner et al., 2005). The other 2 main types of EBS include the milder generalized Koebner type (OMIM ) and the more severe Dowling-Meara type (OMIM ). All 3 forms can be caused by mutation in the KRT5 or KRT14 genes (summary by Fine et al., 2008).
Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
- Hyperkeratosis
- Abnormal blistering of the skin
- Milia
- Palmoplantar blistering
More info about EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
SOURCES: OMIM
JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE
Alternate names
JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE Is also known as junctional epidermolysis bullosa, disentis type, generalized junctional epidermolysis bullosa, non-herlitz type, gabeb, jeb-nh gen, jeb, generalized intermediate, generalized atrophic benign epidermolysis bullosa, junctional epidermolysis bullosa generalisata m
Description
Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.
Most common symptoms of JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE
- Growth delay
- Anemia
- Nail dystrophy
- Abnormality of skin pigmentation
- Palmoplantar keratoderma
More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE
SOURCES: ORPHANET
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
Alternate names
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE Is also known as epidermolysis bullosa junctionalis, progressive, epidermolysis bullosa junctionalis, non-herlitz type, epidermolysis bullosa junctionalis, disentis type, epidermolysis bullosa junctionalis, severe nonlethal, epidermolysis bullosa, generalized atrophic benign,
Most common symptoms of EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
- Abnormality of the dentition
- Alopecia
- Scarring
- Camptodactyly of finger
- Nail dystrophy
More info about EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA
Alternate names
EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA Is also known as ebs with pyloric atresia, ebs-pa
Description
Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.
Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA
- Failure to thrive
- Anemia
- Flexion contracture
- Dysphagia
- Short nose
More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA
LOCALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA, NON-HERLITZ TYPE
Alternate names
LOCALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA, NON-HERLITZ TYPE Is also known as jeb-nh loc
Description
Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails.
More info about LOCALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA, NON-HERLITZ TYPE
SOURCES: ORPHANET
Search interest in ITGB4
Potential gene panels for ITGB4 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.
ITGB4 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 ITGB4 gene.
More info about this panel United States.
ITGB4 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 ITGB4 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.
ITGB4 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ITGB4 gene.
More info about this panel Germany.
Exome PLUS Proteinuria/FSGS & Hematuria Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Exome PLUS Proteinuria/FSGS & Hematuria that also includes the following genes: CFB TRPC6 TSC1 TSC2 C1QA C1QC WT1 C3 NPHS2 ADAMTS13
More info about this panel United States.
ITGB4. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ITGB4 gene.
More info about this panel Spain.
ITGB4. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ITGB4 gene.
More info about this panel Spain.
Epidermolysis bullosa junctional (sequence analysis of ITGB4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ITGB4 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.
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP TP53RK ACTN4 SCARB2
More info about this panel United States.
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 ITGB4 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ITGB4 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.
Nephrotic syndrome and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Nephrotic syndrome and related disorders Comprehensive panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1
More info about this panel United States.
Nephrotic syndrome and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Nephrotic syndrome and related disorders NGS panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1
More info about this panel United States.
Nephrotic syndrome and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Nephrotic syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1
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 ITGB4 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.
Epidermolysis Bullosa NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epidermolysis Bullosa NGS Panel that also includes the following genes: CD151 COL17A1 COL7A1 DSP ITGA3 ITGB4 KRT14 KRT5 LAMA3 LAMB3
More info about this panel United States.
ITGB4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ITGB4 gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
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.
Junctional epidermolysis bullosa with pyloric atresia Panel
Spain.
By Bioarray
This panel specifically test the ITGB4 gene.
More info about this panel Spain.
Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set that also includes the following genes: SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1 CRB2
More info about this panel United States.
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.
Junctional with Pyloric Atresia Epidermolysis Bullosa , Sequencing ITGB4 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ITGB4 gene.
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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