rs121912491, LAMB2

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pierson syndrome
CUI: C1836876
Disease: Pierson syndrome
0.700 GeneticVariation UNIPROT Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. 16912710 2006
Pierson syndrome
CUI: C1836876
Disease: Pierson syndrome
0.700 GeneticVariation UNIPROT Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 15367484 2004
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
0.700 CausalMutation CLINVAR
Nephrosis, congenital
CUI: C3501848
Disease: Nephrosis, congenital
0.010 GeneticVariation BEFREE In contrast, patients with LAMB2 missense mutations, such as R246Q, can have less severe extrarenal defects but still exhibit congenital nephrotic syndrome. 21511833 2011
Nephrotic Syndrome
CUI: C0027726
Disease: Nephrotic Syndrome
0.010 GeneticVariation BEFREE Taken together, these results suggest that the R246Q mutation causes nephrotic syndrome by impairing secretion of laminin-521 from podocytes into the GBM; however, increased expression of the mutant protein is able to overcome this secretion defect and improve glomerular permselectivity. 21511833 2011