LAMA3 gene related symptoms and diseases
All the information presented here about the LAMA3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LAMA3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Nail dystrophy | Very Common - Between 80% and 100% cases |
| Milia | Common - Between 50% and 80% cases |
| Hypoplasia of dental enamel | Common - Between 50% and 80% cases |
| Atrophic scars | Common - Between 50% and 80% cases |
| Abnormal blistering of the skin | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with LAMA3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hoarse voice
- Nail dysplasia
- Aplasia cutis congenita
- Carious teeth
- Scarring
- Oral mucosal blisters
- Anemia
- Alopecia
And 48 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LAMA3 gene
Here you will find a list of rare diseases related to the LAMA3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE
Alternate names
JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE Is also known as epidermolysis bullosa letalis, junctional epidermolysis bullosa, herlitz type, junctional epidermolysis bullosa, herlitz-pearson type, jeb-herlitz type, jeb-h, epidermolysis bullosa junctionalis, herlitz type, epidermolysis bullosa, junctional, herlitz-pearson
Description
Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.
Most common symptoms of JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE
- Failure to thrive
- Anemia
- Feeding difficulties
- Respiratory insufficiency
- Syndactyly
More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE
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
LOC SYNDROME
Alternate names
LOC SYNDROME Is also known as logic syndrome, laryngeal and ocular granulation tissue in children from the indian subcontinent syndrome, shabbir syndrome, laryngo-onycho-cutaneous syndrome
Description
LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.
Most common symptoms of LOC SYNDROME
- Blindness
- Abnormality of the eye
- Scarring
- Nail dystrophy
- Skin ulcer
More info about LOC SYNDROME
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
Search interest in LAMA3
Potential gene panels for LAMA3 gene
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
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.
LAMA3 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 LAMA3 gene.
More info about this panel United States.
LAMA3 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 LAMA3 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.
LAMA3 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the LAMA3 gene.
More info about this panel Germany.
LAMA3, LAMB3, LAMC2. Detection of the mutations p.Arg42X (c.124C>T), p.Gln243X (c.727C>T), p.Arg635X (c.1903C>T) and p.Glu320X (c.957ins77) of the LAMB3; p.R95X (c.283C>T) of the LAMC2 and p.Arg650X (c.1948A>T) of the LAMA3 by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica LAMA3, LAMB3, LAMC2. Detection of the mutations p.Arg42X (c.124C>T), p.Gln243X (c.727C>T), p.Arg635X (c.1903C>T) and p.Glu320X (c.957ins77) of the LAMB3; p.R95X (c.283C>T) of the LAMC2 and p.Arg650X (c.1948A>T) of the LAMA3 by sequencing that also includes the following genes: LAMA3 LAMB3 LAMC2
More info about this panel Spain.
LAMA3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the LAMA3 gene.
More info about this panel Spain.
LAMA3-Related Junctional Epidermolysis Bullosa Panel
Portugal.
By CGC Genetics
This panel specifically test the LAMA3 gene.
More info about this panel Portugal.
Epidermolysis bullosa junctional (sequence analysis of LAMA3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the LAMA3 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 (deletion/duplication analysis of KRT14, LAMA3, LAMB3 and LAMC2 genes) Panel
Portugal.
By CGC Genetics Epidermolysis bullosa (deletion/duplication analysis of KRT14, LAMA3, LAMB3 and LAMC2 genes) that also includes the following genes: KRT14 LAMA3 LAMB3 LAMC2
More info about this panel Portugal.
Epidermolysis bullosa (deletion/duplication analysis of KRT14, LAMA3, LAMB3 and LAMC2 genes) Panel
Portugal.
By CGC Genetics Epidermolysis bullosa (deletion/duplication analysis of KRT14, LAMA3, LAMB3 and LAMC2 genes) that also includes the following genes: KRT14 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 LAMA3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the LAMA3 gene.
More info about this panel United States.
Amelogenesis Imperfecta Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Amelogenesis Imperfecta Sequencing Panel with CNV Detection that also includes the following genes: CNNM4 SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 ROGDI ENAM
More info about this panel United States.
Amelogenesis imperfecta and related disorders Deletion/ Duplication panel Panel
United States.
By Connective Tissue Gene Tests Amelogenesis imperfecta and related disorders Deletion/ Duplication panel that also includes the following genes: SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68
More info about this panel United States.
Amelogenesis imperfecta and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Amelogenesis imperfecta and related disorders Comprehensive panel that also includes the following genes: SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68
More info about this panel United States.
Amelogenesis imperfecta and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Amelogenesis imperfecta and related disorders NGS panel that also includes the following genes: SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68
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, junctional LAMA3 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the LAMA3 gene.
More info about this panel Germany.
Laryngoonychocutaneous syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the LAMA3 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.
Family Prep Screen Panel
United States.
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel United States.
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.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
Junctional Epidermolysis Bullosa, LAMA3-Related (LAMA3) Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the LAMA3 gene.
More info about this panel United States.
Inheritest NGS, Comprehensive Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panel United States.
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.
LAMA3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LAMA3 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.
Generalized junctional epidermolysis bullosa, non-Herlitz type Panel
Spain.
By Bioarray
This panel specifically test the LAMA3 gene.
More info about this panel Spain.
Junctional epidermolysis bullosa, Herlitz type Panel
Spain.
By Bioarray
This panel specifically test the LAMA3 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 Herlitz, Sequencing LAMA3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the LAMA3 gene.
More info about this panel Spain.
Epidermolysis Bullosa , Deletions-Duplications (MLPA) KRT14, LAMA3, LAMB3, LAMC2 Genes Panel
Spain.
By Reference Laboratory Genetics Epidermolysis Bullosa , Deletions-Duplications (MLPA) KRT14, LAMA3, LAMB3, LAMC2 Genes that also includes the following genes: KRT14 LAMA3 LAMB3 LAMC2
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.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel Canada.
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