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.

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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

SOURCES: ORPHANET MESH OMIM

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

SOURCES: ORPHANET OMIM

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

SOURCES: MESH OMIM ORPHANET

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


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

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

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

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

ITGB4 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ITGB4 gene.

More info about this panel

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

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

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

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

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

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

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 ITGB4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ITGB4 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

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

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

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

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

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

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

ITGB4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ITGB4 gene.

More info about this panel

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

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

Junctional epidermolysis bullosa with pyloric atresia Panel

Spain.

By Bioarray

This panel specifically test the ITGB4 gene.

More info about this panel

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

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

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

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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