COL4A4, collagen type IV alpha 4 chain, 1286

N. diseases: 53; N. variants: 101
Disease: Thin basement membrane disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 GeneticVariation disease BEFREE Next-generation sequencing was used to evaluate for mutations in COL4A3 and COL4A4, associated with TBMN, and UMOD, MUC1, and SEC61A1, associated with hereditary GCKD. 31288791 2019
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 Biomarker disease BEFREE We propose that COL4A4-associated TBMN, ADAS, and FSGS should be considered as collagen type IV kidney disease subtypes that represent different phases of disease progression. 29669314 2018
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 GeneticVariation disease BEFREE About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). 29764427 2018
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 GeneticVariation disease BEFREE In conclusion, we describe a novel splicing mutation in COL4A4 that results in TBMN. 26833262 2016
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 Biomarker disease BEFREE Mutations have been identified in the COL4A5 gene in ATS and in the COL4A3 and COL4A4 genes in ATS and TBMN. 26809805 2016
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 GeneticVariation disease BEFREE Pathogenic mutations in genes COL4A3/COL4A4 are responsible for autosomal Alport syndrome (AS) and thin basement membrane nephropathy (TBMN). 25307543 2015
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 Biomarker disease BEFREE Collagen IV-related nephropathies, including thin basement membrane nephropathy and Alport Syndrome (AS), are caused by defects in the genes COL4A3, COL4A4 and COL4A5. 25381091 2014
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 Biomarker disease BEFREE Malone et al. performed next-generation sequencing on 70 families with focal segmental glomerulosclerosis (FSGS) and discovered that 10% had variants in surprising 'old' genes, COL4A3 and COL4A4, which are involved in Alport syndrome and thin basement membrane nephropathy. 25427084 2014
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 GeneticVariation disease BEFREE Mutations in COL4A3 and COL4A4 are known to cause Alport syndrome (AS), thin basement membrane nephropathy, and to result in pathognomonic glomerular basement membrane (GBM) findings. 25229338 2014
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 Biomarker disease BEFREE Collagen type IV related nephropathies are due to the defects in collagen IV genes COL4A3, COL4A4, or COL4A5 and comprise a spectrum of phenotypes ranging from Alport Syndrome (AS) to its mild variants, termed as familial haematuria or thin basement membrane nephropathy. 24398087 2014
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 GeneticVariation disease BEFREE Our study included 102 thin basement membrane nephropathy (TBMN) patients with three known COL4A3/COL4A4 mutations (cohort A), 83 CFHR5/C3 glomerulopathy patients (cohort B) with a single CFHR5 mutation and 15 Alport syndrome patients (cohort C) with two known COL4A5 mild mutations, who were categorized as "Mild" (controls) or "Severe" (cases), based on renal manifestations. 23516419 2013
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 GeneticVariation disease BEFREE A number of X-linked AS patients follow a milder course reminiscent of that of patients with heterozygous COL4A3/COL4A4 mutations and TBMN, while at the same time a significant subset of patients with TBMN and familial MH progress to chronic kidney disease (CKD) or end-stage kidney disease (ESKD). 21688191 2012
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 GeneticVariation disease BEFREE Males and females who carry 1 Col4A3 or Col4A4 mutation usually manifest TBMN with nonprogressive hematuria. 20951199 2011
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 GeneticVariation disease BEFREE Many different mutations in COL4A3 and COL4A4 that cause TBMN have already been identified, but most genetic variability in these genes has been found to cause autosomal ATS. 20177710 2010
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 GeneticVariation disease BEFREE To better understand the contribution of variants in the COL4A4 gene to TBMN, we investigated the sequence of the complete COL4A4 gene in 45 Korean patients with TBMN. 19675380 2009
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 GeneticVariation disease BEFREE Mutations in the COL4A3/COL4A4 genes of type IV collagen account for about 40% of cases of thin basement membrane nephropathy, a condition that is estimated to affect 1% or more of the general population. 18439107 2008
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 GeneticVariation disease BEFREE COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy. 17942953 2007
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 GeneticVariation disease BEFREE In addition, six novel polymorphisms (G455G, I462I, G736G and IVS 38-8 G>A in COL4A3, and L658L and A1577A in COL4A4) were demonstrated.Many different COL4A3 and COL4A4 mutations cause TBMN and autosomal recessive Alport syndrome. 17216251 2007
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 GeneticVariation disease BEFREE In patients with persistent hematuria, testing for COL4A3 and COL4A4 mutations to diagnose TBMN is problematic because of the huge size of these genes, their frequent polymorphisms, and the likelihood of a further gene locus. 15880327 2005
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 GeneticVariation disease BEFREE This study examined how often children with persistent familial hematuria were from families where hematuria segregated with the known genetic locus for the condition known as benign familial hematuria or thin basement membrane nephropathy (TBMN) at COL4A3/COL4A4. 16235097 2005
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 GeneticVariation disease BEFREE Thin basement membrane nephropathy (TBMN) is often caused by mutations in the COL4A3 and COL4A4 genes. 14871398 2004
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 GeneticVariation disease BEFREE Forty-eight unrelated individuals with TBMD who had no family members with autosomal recessive Alport syndrome were examined for COL4A4 mutations. 12631110 2003
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 GeneticVariation disease BEFREE This study describes the first COL4A4 mutation in an individual with biopsy-proven TBMD who did not have a family member with autosomal-recessive or X-linked Alport syndrome, inherited renal failure, or deafness. 11473630 2001
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 Biomarker disease CTD_human
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.600 Biomarker disease GENOMICS_ENGLAND