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.
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
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
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
Search interest in LAMB2
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 United States.
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 United States.
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 Denmark.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 Portugal.
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 Portugal.
Pierson syndrome (sequence analysis of LAMB2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the LAMB2 gene.
More info about this panel Portugal.
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 Portugal.
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 Germany.
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 Germany.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
Pierson syndrome Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the LAMB2 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
LAMB2 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the LAMB2 gene.
More info about this panel Netherlands.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 United States.
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 Spain.
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 Spain.
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 United States.
LAMB2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LAMB2 gene.
More info about this panel United States.
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 United States.
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 Finland.
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 Finland.
Pierson syndrome Panel
Spain.
By Bioarray
This panel specifically test the LAMB2 gene.
More info about this panel Spain.
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 United States.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
Pierson Syndrome , Sequencing LAMB2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the LAMB2 gene.
More info about this panel Spain.
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 Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CAPN3 CASTOR3 MYLK CNKSR2