|
Hematuria, Benign Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
As regards to Alport syndrome, we were able to potentially reclassify a pathogenic allele in the COL4A3 gene, previously associated only with benign familial hematuria.
|
31387071 |
2019 |
|
Hematuria, Benign Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Using bioinformatics analyses and pedigree verification, we showed that COL4A4 c.1471C>T and COL4A3 c.3418 + 1G>T variants in cis are pathogenic and co-segregate with the benign familial hematuria.
|
29742505 |
2018 |
|
Hematuria, Benign Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
COL4A5 mutations are associated with the major X-linked form of the disease, and COL4A3 and COL4A4 mutations are associated with autosomal recessive and dominant forms (thought to be involved in 15% and 1%-5% of the families, respectively) and benign familial hematuria.
|
24854265 |
2014 |
|
Hematuria, Benign Familial
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease.
|
25381091 |
2014 |
|
Hematuria, Benign Familial
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
|
24052634 |
2013 |
|
Hematuria, Benign Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Gene mutations in COL4A5 located on Xq22 are believed to cause X-linked Alport syndrome, whereas mutations in COL4A3 and COL4A4 located on chromosome 2 are associated with autosomal inherited Alport syndrome or benign familial hematuria.
|
19937058 |
2010 |
|
Hematuria, Benign Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Altogether, these data make difficult the differential diagnosis with the benign familial haematuria due to heterozygous mutations of COL4A4 and COL4A3, especially in young patients, and with the X-linked form of Alport syndrome in families where only females are affected.
|
19129241 |
2009 |
|
Hematuria, Benign Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in COL4A5 are generally believed to cause X-linked ATS, whereas mutations in COL4A3 and COL4A4 genes can be associated with the autosomal-recessive and -dominant type of ATS or BFH.
|
17396119 |
2007 |
|
Hematuria, Benign Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study confirms that persistent familial hematuria is not always linked to COL4A3/COL4A4 (or COL4A5) and suggests the possibility of a further genetic locus for benign familial hematuria.
|
16235097 |
2005 |
|
Hematuria, Benign Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It became evident in recent years that mutations in the COL4A3 or the COL4A4 gene can give rise not only to autosomal recessive ATS syndrome, in which males and females are severely affected, but also to an autosomal dominant form, where the clinical progression towards impaired renal function can be very slow and also to benign familial hematuria (BFH) in which renal function is preserved.
|
12768082 |
2003 |
|
Hematuria, Benign Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Moreover, at least 40% of benign familial hematuria (BFH) cases cosegregate with the COL4A3/COL4A4 loci, following a dominant pattern of inheritance.
|
14582039 |
2003 |
|
Hematuria, Benign Familial
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.
|
11961012 |
2002 |
|
Hematuria, Benign Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of COL4A3 and COL4A4 have been reported both in autosomal-recessive and autosomal-dominant ATS, as well as in benign familial hematuria (BFH).
|
12028435 |
2002 |
|
Hematuria, Benign Familial
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The clinical spectrum of type IV collagen mutations.
|
9195222 |
1997 |
|
Hematuria, Benign Familial
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We present here linkage of benign familial hematuria with the COL4A3 and COL4A4 genes at 2q35-37 (Zmax = 3.58 at theta = 0.0).
|
8787673 |
1996 |
|
Hematuria, Benign Familial
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Hematuria, Benign Familial
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Hematuria, Benign Familial
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|