COL4A3, collagen type IV alpha 3 chain, 1285

N. diseases: 119; N. variants: 129
Disease: Hematuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018965
Disease: Hematuria
Hematuria 		0.200 GeneticVariation phenotype BEFREE One of the hematuria-associated variants is a rare, previously unreported 2.5 kb exonic deletion in COL4A3. 30476138 2019
CUI: C0018965
Disease: Hematuria
Hematuria 		0.200 GeneticVariation phenotype GWASCAT Sequence variants associating with urinary biomarkers. 30476138 2019
CUI: C0018965
Disease: Hematuria
Hematuria 		0.200 GeneticVariation phenotype BEFREE In family 2, a novel COL4A3 missense mutation c.G2290A (p.Gly997Glu) was identified in a 45-year-old male diagnosed with focal segmental glomerulosclerosis and was present in all his affected family members, who exhibited disease ranging from isolated microscopic hematuria to end stage renal disease (ESRD). 25381091 2014
CUI: C0018965
Disease: Hematuria
Hematuria 		0.200 Biomarker phenotype BEFREE The major genes involved are the following: (i) the collagen IV genes COL4A3/A4/A5 that are expressed in the glomerular basement membranes (GBM) and are responsible for the most frequent forms of microscopic hematuria, namely Alport syndrome (X-linked or autosomal recessive) and thin basement membrane nephropathy (TBMN). 24046192 2013
CUI: C0018965
Disease: Hematuria
Hematuria 		0.200 GeneticVariation phenotype LHGDN Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. 17396119 2007
CUI: C0018965
Disease: Hematuria
Hematuria 		0.200 Biomarker phenotype BEFREE Eight families (38%) had hematuria that segregated with COL4A3/COL4A4, and four (19%) had hematuria that segregated with COL4A5. 16235097 2005
CUI: C0018965
Disease: Hematuria
Hematuria 		0.200 GeneticVariation phenotype BEFREE The families in whom hematuria does not appear to segregate with the COL4A3/COL4A4 locus cannot all be explained by de novo mutations, and nonpenetrant or coincidental hematuria.This suggests a further TBMN locus. 15880327 2005
CUI: C0018965
Disease: Hematuria
Hematuria 		0.200 GeneticVariation phenotype BEFREE We examined 62 unrelated individuals diagnosed with TBMN by renal biopsy (N= 49, 79%) or a positive family history of hematuria but without a biopsy (N= 13, 21%) for mutations in the COL4A3 gene and the COL4A3/COL4A4 promoter. 14871398 2004
CUI: C0018965
Disease: Hematuria
Hematuria 		0.200 Biomarker phenotype BEFREE Families with TBMN in whom hematuria does not segregate with the COL4A3/COL4A4 locus can be explained by de novo mutations, incomplete penetrance of hematuria, coincidental hematuria in family members without COL4A3 or COL4A4 mutations, and by a novel gene locus for TBMN. 12969134 2003
CUI: C0018965
Disease: Hematuria
Hematuria 		0.200 GeneticVariation phenotype BEFREE Pathogenic COL4A4 mutations were demonstrated in three of the nine (33%) families in whom hematuria segregated with the COL4A3/COL4A4 locus. 12631110 2003
CUI: C0018965
Disease: Hematuria
Hematuria 		0.200 GeneticVariation phenotype BEFREE Hematuria in this family segregated with a haplotype at the COL4A3/COL4A4 locus (P = 0.031) but not with haplotypes at the COL4A5 locus. 11473630 2001
CUI: C0018965
Disease: Hematuria
Hematuria 		0.200 GeneticVariation phenotype BEFREE The aim of this study was to determine how often hematuria in families with TBMD segregated with haplotypes at the chromosomal loci for autosomal recessive and X-linked Alport syndrome (COL4A3/COL4A4 and COL4A5, respectively). 11318937 2001
CUI: C0018965
Disease: Hematuria
Hematuria 		0.200 GeneticVariation phenotype BEFREE This report describes a mutation in COL4A3 in a girl who presented at age 5 with hematuria and proteinuria, lacking any family history of renal disease. 7780062 1995
CUI: C0018965
Disease: Hematuria
Hematuria 		0.200 Biomarker phenotype HPO