LAMB2 gene related symptoms and diseases

All the information presented here about the LAMB2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LAMB2 gene

Symptoms // Phenotype % Cases
Global developmental delay Common - Between 50% and 80% cases
Stage 5 chronic kidney disease Common - Between 50% and 80% cases
Limited extraocular movements Common - Between 50% and 80% cases
Proximal muscle weakness Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with LAMB2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Muscle weakness
  • Microcoria
  • Congenital nephrotic syndrome
  • Neurodevelopmental delay
  • Nephrotic syndrome
  • Scoliosis
  • Proteinuria
  • Renal insufficiency

And 75 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LAMB2 gene

Here you will find a list of rare diseases related to the LAMB2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PIERSON SYNDROME


Alternate names

PIERSON SYNDROME Is also known as microcoria-congenital nephrotic syndrome, microcoria-congenital nephrosis syndrome

Description

Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.

Most common symptoms of PIERSON SYNDROME

  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Visual impairment
  • Edema


More info about PIERSON SYNDROME

SOURCES: OMIM ORPHANET

LAMB2-RELATED INFANTILE-ONSET NEPHROTIC SYNDROME


Description

LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.

Most common symptoms of LAMB2-RELATED INFANTILE-ONSET NEPHROTIC SYNDROME

  • Scoliosis
  • Nystagmus
  • Strabismus
  • Muscle weakness
  • Ptosis


More info about LAMB2-RELATED INFANTILE-ONSET NEPHROTIC SYNDROME

SOURCES: OMIM ORPHANET

SYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Most common symptoms of SYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


More info about SYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

SOURCES: ORPHANET


Potential gene panels for LAMB2 gene

LAMB2 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the LAMB2 gene.

More info about this panel

Early Onset Nephrotic Syndrome Evaluation Panel

United States.

By Athena Diagnostics Inc Early Onset Nephrotic Syndrome Evaluation that also includes the following genes: WT1 NPHS2 PLCE1 LAMB2 NPHS1

More info about this panel

Anterior segment defects Panel

Denmark.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anterior segment defects that also includes the following genes: PORCN B3GLCT COL4A1 CYP1B1 EYA1 FOXC1 FOXE3 KERA LAMB2 PAX2

More info about this panel

Neuromuscular Disorders Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2

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

LAMB2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the LAMB2 gene.

More info about this panel

LAMB2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the LAMB2 gene.

More info about this panel

Nephrotic syndrome type 5 (sequence analysis of LAMB2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LAMB2 gene.

More info about this panel

Myasthenic syndrome, congenital (NGS panel for 17genes) Panel

Portugal.

By CGC Genetics Myasthenic syndrome, congenital (NGS panel for 17genes) that also includes the following genes: SCN4A SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ DOK7

More info about this panel

Pierson syndrome (sequence analysis of LAMB2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LAMB2 gene.

More info about this panel

Nephrotic syndrome (NGS panel for 11 genes) Panel

Portugal.

By CGC Genetics Nephrotic syndrome (NGS panel for 11 genes) that also includes the following genes: WT1 NPHS2 ACTN4 PLCE1 COQ8B DGKE EMP2 LAMB2 ARHGDIA NPHS1

More info about this panel

Pierson syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the LAMB2 gene.

More info about this panel

Nephrotic syndrome, type 5, with or without ocular abnormalities Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the LAMB2 gene.

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

Pierson Syndrome and Congenital Nephrotic Syndrome via LAMB2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LAMB2 gene.

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

Pierson syndrome Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the LAMB2 gene.

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3

More info about this panel

LAMB2 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the LAMB2 gene.

More info about this panel

Nephrotic syndrome panel Panel

Germany.

By Centogene AG - the Rare Disease Company Nephrotic syndrome panel that also includes the following genes: WT1 NPHS2 PLCE1 DGKE LAMB2 ARHGDIA NPHS1

More info about this panel

Congenital myasthenic syndrome panel Panel

Germany.

By Centogene AG - the Rare Disease Company Congenital myasthenic syndrome panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ DOK7 AGRN

More info about this panel

Nephrotic syndrome type 5 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LAMB2 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel

Germany.

By CeGaT GmbH Congenital Myasthenic Syndromes and Arthrogryposis Panel that also includes the following genes: SCN4A SNAP25 SYT2 TNNI2 TNNT3 TPM2 ADGRG6 SYNE1 FKBP10 NALCN

More info about this panel

Nephrotic Syndrome Panel Panel

Germany.

By CeGaT GmbH Nephrotic Syndrome Panel that also includes the following genes: SMARCAL1 WT1 NPHS2 PLCE1 COQ8B COQ2 WDR73 DGKE EMP2 ITGA3

More info about this panel

Developmental Eye Disease panel Panel

United States.

By Molecular Vision Laboratory Developmental Eye Disease panel that also includes the following genes: BMP4 SHH SIX3 SIX6 SLC25A1 SNX3 SOX2 SOX3 ELP4 VAX1

More info about this panel

Nephrotic syndrome, type 5, with or without ocular abnormalities: LAMB2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the LAMB2 gene.

More info about this panel

NEPHROTIC SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NEPHROTIC SYNDROME that also includes the following genes: STS TRPC6 WT1 NPHS2 CD2AP PLCE1 COQ6 INF2 ITGA3 LAMB2

More info about this panel

Steroid-Resistant Nephrotic Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Steroid-Resistant Nephrotic Syndrome NGS Panel that also includes the following genes: CD2AP ACTN4 INF2 COQ2 LAMB2

More info about this panel

LAMB2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LAMB2 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

Nephrotic Syndrome Panel Panel

Finland.

By Blueprint Genetics Nephrotic Syndrome Panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

More info about this panel

Congenital Myasthenic Syndromes Panel Panel

Finland.

By Blueprint Genetics Congenital Myasthenic Syndromes Panel that also includes the following genes: SCN4A STIM1 CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ FLAD1

More info about this panel

Pierson syndrome Panel

Spain.

By Bioarray

This panel specifically test the LAMB2 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

SYNDROME WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SYNDROME WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS NGS PANEL that also includes the following genes: SGPL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 PLCE1 NUP205 CRB2

More info about this panel

NEPHROTIC SYNDROME, CONGENITAL / OCULORENAL SYNDROME (PIERSON SYNDROME) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the LAMB2 gene.

More info about this panel

NEPHROTIC SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL NEPHROTIC SYNDROME that also includes the following genes: WT1 NPHS2 LAMB2 NPHS1

More info about this panel

Congenital Nephrotic Syndrome Type 5 , Sequencing LAMB2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LAMB2 gene.

More info about this panel

Pierson Syndrome , Sequencing LAMB2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LAMB2 gene.

More info about this panel

Congenital Nephrotic Syndrome , Panel Massive Sequencing (NGS) 13 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Nephrotic Syndrome , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: TRPC6 WT1 NPHS2 CD2AP PLCE1 COQ6 INF2 ITGA3 LAMB2 ARHGDIA

More info about this panel


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