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.

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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

SOURCES: OMIM ORPHANET

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

SOURCES: ORPHANET OMIM MESH

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


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

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

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

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

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

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

LAMA3 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the LAMA3 gene.

More info about this panel

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

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

LAMA3-Related Junctional Epidermolysis Bullosa Panel

Portugal.

By CGC Genetics

This panel specifically test the LAMA3 gene.

More info about this panel

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

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 (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

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

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 LAMA3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LAMA3 gene.

More info about this panel

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

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

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

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

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

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

Laryngoonychocutaneous syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LAMA3 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

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

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

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

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

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

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

LAMA3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LAMA3 gene.

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

Generalized junctional epidermolysis bullosa, non-Herlitz type Panel

Spain.

By Bioarray

This panel specifically test the LAMA3 gene.

More info about this panel

Junctional epidermolysis bullosa, Herlitz type Panel

Spain.

By Bioarray

This panel specifically test the LAMA3 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 Herlitz, Sequencing LAMA3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LAMA3 gene.

More info about this panel

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

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

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


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