LAMB2, laminin subunit beta 2, 3913

N. diseases: 116; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 GeneticVariation disease BEFREE This is the first Chinese case of Pierson syndrome diagnosed by clinical manifestations and LAMB2 gene mutations. 19861315 2010
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 GeneticVariation disease BEFREE LAMB2 mutations cause Pierson syndrome (OMIM 609049), an autosomal recessive genetic disease typically characterized by congenital nephrotic syndrome (CNS) and early onset renal failure, as well as bilateral microcoria. 27004562 2016
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 GeneticVariation disease BEFREE We report ocular findings in a 5-month-old boy with Pierson syndrome with a novel mutation in LAMB2. 30120985 2018
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 GeneticVariation disease BEFREE Null mutations in laminin β2 (LAMB2) cause Pierson syndrome, a severe congenital nephrotic syndrome with ocular and neurologic defects. 21511833 2011
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 GeneticVariation disease BEFREE Mutation of the LAMB2 gene is associated with Pierson syndrome, which is an autosomal recessive disorder characterized by congenital nephrotic syndrome and ocular abnormalities. 29094445 2017
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 GeneticVariation disease BEFREE Mutations in LAMB2 that impact the synthesis or function of laminin α5β2γ1 (LM-521) cause Pierson syndrome (congenital nephrotic syndrome with eye and neurological defects) and its less severe variants, including isolated congenital nephrotic syndrome. 29673759 2018
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 Biomarker disease BEFREE The most common mutations are in 4 genes, 3 of which are podocyte genes: NPHS1 (Finnish nephropathy), NPHS2 (podocin-induced focal segmental glomerulosclerosis), WT1 (diffuse mesangial sclerosis), and LAMB2 (Pierson syndrome). 18462046 2008
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 AlteredExpression disease BEFREE This observation, together with two recent reports on milder variants of Pierson syndrome, corroborates the concept that the clinical expression of Pierson syndrome is more variable than initially described, and that milder phenotypes may be related to hypomorphic LAMB2 alleles. 17943323 2008
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 GeneticVariation disease BEFREE Genetic diseases affecting laminin and type IV collagen synthesis also are presented, with an emphasis on mutations to LAMB2 (Pierson syndrome) and COL4A3, COL4A4, and COL4A5 (Alport syndrome), and their experimental mouse models. 22958488 2012
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 GeneticVariation disease BEFREE What is known • LAMB2 mutations are associated with Pierson syndrome • Pierson syndrome is associated with congenital nephrotic syndrome, microcoria and neurological deficits What is new • A novel mutation in the LAMB2 gene in two female siblings • Genotype and clinical phenotype description of a novel LAMB2 mutation. 28188379 2017
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 GeneticVariation disease BEFREE The majority of disease-causing LAMB2 mutations are truncating, consistent with the hypothesis that loss of laminin beta2 function is the molecular basis of Pierson syndrome. 20556798 2010
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 GeneticVariation disease BEFREE A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. 21236492 2011
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 GeneticVariation disease BEFREE To describe the prenatal findings in Pierson syndrome, a newly defined autosomal recessive entity, comprising congenital nephrotic syndrome (CNS) with diffuse mesangial sclerosis and distinct eye abnormalities due to LAMB2 mutations. 16450351 2006
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 GeneticVariation disease BEFREE LAMB2 mutations were confirmed in all the three cases, two presented with Pierson syndrome, while one presented with isolated infantile steroid-resistant nephrotic syndrome. 27925579 2017
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 GeneticVariation disease BEFREE LAMB2 mutations leading to lack of laminin beta2 were identified as the molecular cause underlying Pierson syndrome. 17256789 2007
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 Biomarker disease BEFREE These findings demonstrate that the spectrum of LAMB2-associated disorders is broader than previously anticipated and includes congenital nephrotic syndrome without eye anomalies or with minor ocular changes different from those observed in Pierson syndrome. 16912710 2006
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 GeneticVariation disease BEFREE A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome. 27130041 2016
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		1.000 Biomarker disease BEFREE Several mutations in the LN domains cause LAMA2-deficient muscular dystrophy and LAMB2-deficient Pierson syndrome. 29408412 2018
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		0.420 GeneticVariation disease BEFREE We therefore determine in this study the relative frequency of mutations in PLCE1, WT1 or LAMB2 as the cause of IDMS in a worldwide cohort. 18065803 2008
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		0.420 Biomarker disease BEFREE The most common mutations are in 4 genes, 3 of which are podocyte genes: NPHS1 (Finnish nephropathy), NPHS2 (podocin-induced focal segmental glomerulosclerosis), WT1 (diffuse mesangial sclerosis), and LAMB2 (Pierson syndrome). 18462046 2008
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.320 GeneticVariation disease BEFREE Human mutations in COLQ, LAMB2, and AGRN cause congenital myasthenic syndromes (CMSs) owing to deficiency of ColQ, laminin-β2, and agrin, respectively. 23278576 2012
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.320 GeneticVariation disease BEFREE Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. 19251977 2009
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.210 AlteredExpression disease BEFREE These translational control points may provide new targets for therapy in proteinuric disorders such as diabetic nephropathy where LAMB2 levels are reduced. 22513850 2012
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.140 Biomarker group BEFREE Because of its prognostic relevance, we advocate molecular genetic testing of LAMB2 in any case of prenatally detected nephrotic syndrome with negative results of NPHS1 mutational screening, especially in the presence of the typical sonomorphologic findings of the kidneys and the development of oligohydramnios. 16450351 2006
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.140 Biomarker group BEFREE However, the phenotypic spectrum of LAMB2-associated disorders is broader, isolated congenital or infantile nephrotic syndrome can also be seen. 27925579 2017