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LAMB2 and nephrotic syndrome are reported together in 4 articles.
Gene
LAMB2
- HGNC
- HGNC:6487
8articles
8mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Nephrotic syndrome
108articles
108mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
4 records shown · first 60Genetic Studies in Infants with Congenital Nephrotic Syndrome: A Case Series.
PMID 38146730 | DOI 10.4103/1319-2442.391899 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2023 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | LAMB2 | “Here, we report a case series of four infants (aged 14-60 days) with CNS from our center with genetic mutations (including mutations in the NPHS1 and LAMB2 genes) that were not described in previous reports from India.” | 0.98 | hgnc_dict_v1 |
| phenotype | nephrotic syndrome | “Genetic Studies in Infants with Congenital Nephrotic Syndrome: A Case Series.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | NPHS1 | “Here, we report a case series of four infants (aged 14-60 days) with CNS from our center with genetic mutations (including mutations in the NPHS1 and LAMB2 genes) that were not described in previous reports from India.” | 0.98 | hgnc_dict_v1 |
| phenotype | renal failure | “These infants may progress to end-stage renal disease, and mortality is high in infancy.” | 0.93 | phenotype_alias_lexicon_v2 |
Genetics of congenital and infantile nephrotic syndrome.
PMID 30721404 | DOI 10.1007/s12519-018-00224-0 · World journal of pediatrics : WJP · 2019 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | LAMB2 | “An underlying causative homozygous mutation was detected in 18 children (90%): NPHS1 (9), NPHS2(2), LAMB2(3), PLCE1(1), WT1(1), and ITSN1 novel mutation (2).” | 0.98 | hgnc_dict_v1 |
| phenotype | nephrotic syndrome | “Genetics of congenital and infantile nephrotic syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | INS | “BACKGROUND: Congenital and infantile nephrotic syndrome (CNS and INS) are rare inherited defects in glomerular filtration involving a variety of gene mutations.” | 0.98 | hgnc_dict_v1 |
| gene | NPHS1 | “An underlying causative homozygous mutation was detected in 18 children (90%): NPHS1 (9), NPHS2(2), LAMB2(3), PLCE1(1), WT1(1), and ITSN1 novel mutation (2).” | 0.98 | hgnc_dict_v1 |
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.
PMID 24742477 | PMCID PMC4046728 | DOI 10.2215/CJN.09010813 · Clinical journal of the American Society of Nephrology : CJASN · 2014 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | LAMB2 | “Seven novel disease-causing mutations in PLCE1 (n=5), NPHS1 (n=1), and LAMB2 (n=1) were identified in <3 weeks.” | 0.98 | hgnc_dict_v1 |
| phenotype | nephrotic syndrome | “Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PLCE1 | “Seven novel disease-causing mutations in PLCE1 (n=5), NPHS1 (n=1), and LAMB2 (n=1) were identified in <3 weeks.” | 0.98 | hgnc_dict_v1 |
| gene | NPHS1 | “Seven novel disease-causing mutations in PLCE1 (n=5), NPHS1 (n=1), and LAMB2 (n=1) were identified in <3 weeks.” | 0.98 | hgnc_dict_v1 |
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
PMID 23595123 | DOI 10.1038/jhg.2013.27 · Journal of human genetics · 2013 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | LAMB2 | “To determine the frequency of inherited NS, 62 cases (representing 49 families with NS) from Saudi Arabia were screened for mutations in NPHS1, NPHS2, LAMB2, PLCE1, CD2AP, MYO1E, WT1, PTPRO and Nei endonuclease VIII-like 1 (NEIL1).” | 0.98 | hgnc_dict_v1 |
| phenotype | nephrotic syndrome | “A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | NPHS1 | “To determine the frequency of inherited NS, 62 cases (representing 49 families with NS) from Saudi Arabia were screened for mutations in NPHS1, NPHS2, LAMB2, PLCE1, CD2AP, MYO1E, WT1, PTPRO and Nei endonuclease VIII-like 1 (NEIL1).” | 0.98 | hgnc_dict_v1 |
| gene | NPHS2 | “To determine the frequency of inherited NS, 62 cases (representing 49 families with NS) from Saudi Arabia were screened for mutations in NPHS1, NPHS2, LAMB2, PLCE1, CD2AP, MYO1E, WT1, PTPRO and Nei endonuclease VIII-like 1 (NEIL1).” | 0.98 | hgnc_dict_v1 |