COL17A1 gene related symptoms and diseases

All the information presented here about the COL17A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to COL17A1 gene

Symptoms // Phenotype % Cases
Nail dystrophy Common - Between 50% and 80% cases
Abnormal blistering of the skin Common - Between 50% and 80% cases
Atrophic scars Common - Between 50% and 80% cases
Oral mucosal blisters 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 COL17A1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Milia
  • Rarely - Less than 30% cases

  • Growth delay
  • Palmar hyperhidrosis
  • Pain
  • Visual impairment
  • Photophobia
  • Corneal opacity
  • Corneal dystrophy

And 27 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to COL17A1 gene

Here you will find a list of rare diseases related to the COL17A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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

EPITHELIAL RECURRENT EROSION DYSTROPHY


Alternate names

EPITHELIAL RECURRENT EROSION DYSTROPHY Is also known as corneal erosions, recurring hereditary, dystrophia smolandiensis, dystrophia helsinglandica, ered, recurrent hereditary corneal erosions

Description

Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.

Most common symptoms of EPITHELIAL RECURRENT EROSION DYSTROPHY

  • Pain
  • Visual impairment
  • Photophobia
  • Corneal opacity
  • Corneal dystrophy


More info about EPITHELIAL RECURRENT EROSION DYSTROPHY

SOURCES: MESH ORPHANET OMIM

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

LATE-ONSET JUNCTIONAL EPIDERMOLYSIS BULLOSA


Alternate names

LATE-ONSET JUNCTIONAL EPIDERMOLYSIS BULLOSA Is also known as eb progressive, jeb-lo

Description

Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood.

Most common symptoms of LATE-ONSET JUNCTIONAL EPIDERMOLYSIS BULLOSA

  • Nail dystrophy
  • Abnormal blistering of the skin
  • Atrophic scars
  • Palmoplantar hyperhidrosis
  • Adermatoglyphia


More info about LATE-ONSET JUNCTIONAL EPIDERMOLYSIS BULLOSA

SOURCES: ORPHANET


Potential gene panels for COL17A1 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

COL17A1 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 COL17A1 gene.

More info about this panel

COL17A1 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 COL17A1 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

COL17A1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the COL17A1 gene.

More info about this panel

COL17A1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the COL17A1 gene.

More info about this panel

Epidermolysis bullosa junctional (sequence analysis of COL17A1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the COL17A1 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

Junctional Epidermolysis Bullosa via COL17A1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the COL17A1 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

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

Epidermolysis bullosa, junctional Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the COL17A1 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

Corneal Dystrophy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Corneal Dystrophy that also includes the following genes: SOD1 TACSTD2 TCF4 ZEB1 TGFBI VSX1 SLC4A11 COL17A1 COL8A2 CYP4V2

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

COL17A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COL17A1 gene.

More info about this panel

Corneal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Corneal Dystrophy Panel that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI OVOL2 SLC4A11 COL17A1 COL5A1 COL8A2 CYP4V2

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 Panel

Spain.

By Bioarray

This panel specifically test the COL17A1 gene.

More info about this panel

Generalized junctional epidermolysis bullosa, non-Herlitz type Panel

Spain.

By Bioarray

This panel specifically test the COL17A1 gene.

More info about this panel

JUNCTIONAL EPIDERMOLYSIS BULLOSA Panel

Spain.

By Laboratorio de Genetica Clinica SL JUNCTIONAL EPIDERMOLYSIS BULLOSA that also includes the following genes: COL17A1 LAMA3 LAMB3 LAMC2

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 Epidermolysis Bullosa Type Not Herlitz, Sequencing COL17A1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the COL17A1 gene.

More info about this panel

Epidermolysis Bullosa , Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

By Reference Laboratory Genetics Epidermolysis Bullosa , Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: COL17A1 COL7A1 KRT14 KRT5 LAMA3 LAMB3 LAMC2 PLEC

More info about this panel

Junctional Epidermolysis Bullosa: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Junctional Epidermolysis Bullosa: gene sequencing panel that also includes the following genes: COL17A1 LAMA3 LAMB3 LAMC2

More info about this panel


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