Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities; Nphs5

Description

Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus (summary by Hasselbacher et al., 2006).Mutation in the LAMB2 gene can also cause Pierson syndrome (OMIM ), which is characterized by nephrotic syndrome, distinct ocular anomalies, namely microcoria, and neurodevelopmental delay.For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities; Nphs5

  • Scoliosis
  • Nystagmus
  • Strabismus
  • Ptosis
  • Muscle weakness
  • Nevus
  • Myopia
  • Renal insufficiency
  • Proteinuria
  • Proximal muscle weakness
And another 14 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities; Nphs5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
LAMB2 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

LAMB2
Specificity
100 %
Genes
100 %
Early Onset Nephrotic Syndrome Evaluation.

By Athena Diagnostics Inc in United States.

WT1, NPHS2, NPHS1, LAMB2, PLCE1
Specificity
20 %
Genes
100 %
Anterior segment defects.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

EYA1, PAX6, PITX3, FOXC1, PITX2, CYP1B1, PAX2, PORCN, LAMB2, COL4A1, FOXE3, B3GLCT, KERA
Specificity
8 %
Genes
100 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
Exome PLUS Proteinuria/FSGS & Hematuria.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

WT1, ALMS1, LMX1B, PAX2, GLA, TSC2, TSC1, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, MYH9, CFB, CFI , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
LAMB2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

LAMB2
Specificity
100 %
Genes
100 %
LAMB2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

LAMB2
Specificity
100 %
Genes
100 %
Nephrotic syndrome type 5 (sequence analysis of LAMB2 gene).

By CGC Genetics in Portugal.

LAMB2
Specificity
100 %
Genes
100 %
Myasthenic syndrome, congenital (NGS panel for 17genes).

By CGC Genetics in Portugal.

CHAT, DPAGT1, CHRNE, DOK7, RAPSN, SCN4A, LAMB2, PLEC, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, CHRNG, SYT2
Specificity
6 %
Genes
100 %
Pierson syndrome (sequence analysis of LAMB2 gene).

By CGC Genetics in Portugal.

LAMB2
Specificity
100 %
Genes
100 %
Nephrotic syndrome (NGS panel for 11 genes).

By CGC Genetics in Portugal.

WT1, NPHS2, NPHS1, LAMB2, ACTN4, PLCE1, DGKE, COQ8B, ARHGDIA, EMP2, PTPRO
Specificity
10 %
Genes
100 %
Pierson syndrome.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

LAMB2
Specificity
100 %
Genes
100 %
Pierson syndrome.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

LAMB2
Specificity
100 %
Genes
100 %
Nephrotic syndrome, type 5, with or without ocular abnormalities.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

LAMB2
Specificity
100 %
Genes
100 %
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Pierson Syndrome and Congenital Nephrotic Syndrome via the LAMB2 Gene.

By PreventionGenetics PreventionGenetics in United States.

LAMB2
Specificity
100 %
Genes
100 %
Nephrotic syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Nephrotic syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Nephrotic syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Pierson syndrome.

By Institute of Human Genetics Cologne University in Germany.

LAMB2
Specificity
100 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center in Germany.

VHL, ALPL, HNF1A, NEUROD1, EYA1, WT1, HNF1B, RET, OCRL, GCK, COQ9, PDSS2, COQ6, CYP24A1, COQ2, AGXT, SLC3A1, LMX1B, PAX2, GLA , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
100 %
LAMB2.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

LAMB2
Specificity
100 %
Genes
100 %
Nephrotic syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

WT1, NPHS2, NPHS1, LAMB2, PLCE1, DGKE, ARHGDIA
Specificity
15 %
Genes
100 %
Congenital myasthenic syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

CHAT, CHRNE, DOK7, RAPSN, SCN4A, LAMB2, PLEC, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, CHRNG
Specificity
7 %
Genes
100 %
Nephrotic syndrome type 5.

By Centogene AG - the Rare Disease Company in Germany.

LAMB2
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Congenital Myasthenic Syndromes and Arthrogryposis Panel.

By CeGaT GmbH in Germany.

FKBP10, PLOD2, ALG2, CHAT, DPAGT1, CHRNE, DOK7, RAPSN, DNM2, SCN4A, LAMB2, TPM2, SYNE1, PLEC, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Nephrotic Syndrome Panel.

By CeGaT GmbH in Germany.

WT1, COQ2, NPHS2, NPHS1, LAMB2, PLCE1, DGKE, COQ8B, ITGA3, SMARCAL1, WDR73, ARHGDIA, EMP2, PTPRO
Specificity
8 %
Genes
100 %
Developmental Eye Disease panel.

By Molecular Vision Laboratory in United States.

RAX, PAX6, PITX3, ABCB6, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, CRX, STRA6, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, FKTN , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Nephrotic syndrome, type 5, with or without ocular abnormalities: LAMB2 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LAMB2
Specificity
100 %
Genes
100 %
NEPHROTIC SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

WT1, COQ6, MPV17, NPHS2, NPHS1, INF2, LAMB2, PLCE1, TRPC6, CD2AP, ITGA3, STS, MYO1E, ARHGDIA, PTPRO
Specificity
7 %
Genes
100 %
Steroid-Resistant Nephrotic Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COQ2, INF2, LAMB2, ACTN4, CD2AP
Specificity
20 %
Genes
100 %
LAMB2.

By Fulgent Genetics Fulgent Genetics in United States.

LAMB2
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Nephrotic Syndrome Panel.

By Blueprint Genetics in Finland.

WT1, COQ2, LMX1B, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, MYH9, CD2AP, DGKE, APOL1, TTC21B , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Congenital Myasthenic Syndromes Panel.

By Blueprint Genetics in Finland.

CHAT, DPAGT1, CHRNE, DOK7, RAPSN, SCN4A, LAMB2, PLEC, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, CHRNG, STIM1, FLAD1
Specificity
6 %
Genes
100 %
Pierson syndrome.

By Bioarray in Spain.

LAMB2
Specificity
100 %
Genes
100 %
Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MYH9, MEFV, CD2AP , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
NEPHROTIC SYNDROME, CONGENITAL / OCULORENAL SYNDROME (PIERSON SYNDROME).

By Laboratorio de Genetica Clinica SL in Spain.

LAMB2
Specificity
100 %
Genes
100 %
NEPHROTIC SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

WT1, NPHS2, NPHS1, LAMB2
Specificity
25 %
Genes
100 %
Congenital Nephrotic Syndrome Type 5 , Sequencing LAMB2 Gene.

By Reference Laboratory Genetics in Spain.

LAMB2
Specificity
100 %
Genes
100 %
Pierson Syndrome , Sequencing LAMB2 Gene.

By Reference Laboratory Genetics in Spain.

LAMB2
Specificity
100 %
Genes
100 %
Congenital Nephrotic Syndrome , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

WT1, COQ6, NPHS2, NPHS1, INF2, LAMB2, PLCE1, TRPC6, CD2AP, ITGA3, MYO1E, ARHGDIA, PTPRO
Specificity
8 %
Genes
100 %


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN GENERALIZED DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY; SIDBA3 ACHONDROGENESIS, TYPE IA; ACG1A HYPERMANGANESEMIA WITH DYSTONIA 1; HMNDYT1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more