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.
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
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
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
Search interest in COL17A1
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 United States.
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 United States.
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 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.
COL17A1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the COL17A1 gene.
More info about this panel Germany.
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 Spain.
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 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.
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 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.
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 Germany.
Epidermolysis bullosa, junctional Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COL17A1 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.
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 Estonia.
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.
COL17A1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COL17A1 gene.
More info about this panel United States.
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 Finland.
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 Panel
Spain.
By Bioarray
This panel specifically test the COL17A1 gene.
More info about this panel Spain.
Generalized junctional epidermolysis bullosa, non-Herlitz type Panel
Spain.
By Bioarray
This panel specifically test the COL17A1 gene.
More info about this panel Spain.
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 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 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 Spain.
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 Spain.
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 Canada.
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