MCID: HMT008
MIFTS: 39

Hematuria, Benign Familial

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Hematuria, Benign Familial

MalaCards integrated aliases for Hematuria, Benign Familial:

Name: Hematuria, Benign Familial 57 75 13 73
Benign Familial Hematuria 76 53 37 29 6
Thin Membrane Nephropathy 57 53 75
Thin Basement Membrane Nephropathy 53 75
Bfh 57 75
Tmn 57 75
Familial Benign Essential Hematuria 53
Thin-Basement-Membrane Nephropathy 57
Thin Membrane Nephropathy; Tmn 57
Hematuria, Benign, Familial ) 40
Thin Basement Membrane Disease 73
Familial Hematuric Nephritis 53
Benign Hereditary Nephritis 53
Benign Essential Hematuria 53
Hematuria, Familial Benign 13
Hematuria Benign Familial 55
Hematuria 44
Tbmn 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset usually in childhood
nonprogressive
does not result in renal failure


HPO:

32
hematuria, benign familial:
Inheritance autosomal dominant inheritance
Onset and clinical course nonprogressive


Classifications:



External Ids:

OMIM 57 141200
MeSH 44 D006417
KEGG 37 H00582

Summaries for Hematuria, Benign Familial

OMIM : 57 Benign familial hematuria is an autosomal dominant condition manifest as nonprogressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane (GBM), and can be considered the mildest end of the spectrum of renal diseases due to type IV collagen defects of the basement membrane. The most severe end of the spectrum is represented by Alport syndrome (301050; 203780, 104200), which results in end-stage renal failure and may be associated with hearing loss and ocular anomalies (review by Lemmink et al. (1996)). (141200)

MalaCards based summary : Hematuria, Benign Familial, also known as benign familial hematuria, is related to alport syndrome and thin basement membrane nephropathy and alport syndrome, autosomal dominant. An important gene associated with Hematuria, Benign Familial is COL4A3 (Collagen Type IV Alpha 3 Chain), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. Affiliated tissues include kidney, and related phenotypes are hematuria and thin glomerular basement membrane

UniProtKB/Swiss-Prot : 75 Hematuria, benign familial: An autosomal dominant condition characterized by non-progressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane.

Wikipedia : 76 Thin basement membrane disease (TBMD, also known as benign familial hematuria and thin basement membrane... more...

Related Diseases for Hematuria, Benign Familial

Graphical network of the top 20 diseases related to Hematuria, Benign Familial:



Diseases related to Hematuria, Benign Familial

Symptoms & Phenotypes for Hematuria, Benign Familial

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
hematuria, microscopic
thin glomerular basement membrane


Clinical features from OMIM:

141200

Human phenotypes related to Hematuria, Benign Familial:

32
# Description HPO Frequency HPO Source Accession
1 hematuria 32 HP:0000790
2 thin glomerular basement membrane 32 HP:0012577

MGI Mouse Phenotypes related to Hematuria, Benign Familial:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.13 COL4A3 COL4A4 COL4A5
2 vision/eye MP:0005391 8.8 COL4A3 COL4A4 COL4A5

Drugs & Therapeutics for Hematuria, Benign Familial

Search Clinical Trials , NIH Clinical Center for Hematuria, Benign Familial

Cochrane evidence based reviews: hematuria

Genetic Tests for Hematuria, Benign Familial

Genetic tests related to Hematuria, Benign Familial:

# Genetic test Affiliating Genes
1 Benign Familial Hematuria 29 COL4A3

Anatomical Context for Hematuria, Benign Familial

MalaCards organs/tissues related to Hematuria, Benign Familial:

41
Kidney

Publications for Hematuria, Benign Familial

Articles related to Hematuria, Benign Familial:

# Title Authors Year
1
A family with X-linked benign familial hematuria. ( 19937058 )
2010
2
Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. ( 17396119 )
2007
3
[From Alport syndrome to benign familial hematuria: clinical and genetic aspect]. ( 16895672 )
2005
4
Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases. ( 14582039 )
2003
5
Alport syndrome and benign familial hematuria (thin basement membrane disease) in two brothers of a family with hematuria. ( 14524583 )
2003
6
Benign familial hematuria associated with a novel COL4A4 mutation. ( 11685592 )
2001
7
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene. ( 8787673 )
1996
8
Establishing the diagnosis of benign familial hematuria. The importance of examining the urine sediment of family members. ( 3352118 )
1988

Variations for Hematuria, Benign Familial

UniProtKB/Swiss-Prot genetic disease variations for Hematuria, Benign Familial:

75
# Symbol AA change Variation ID SNP ID
1 COL4A3 p.Gly985Val VAR_030948 rs121912827
2 COL4A3 p.Gly1015Glu VAR_030949 rs121912826
3 COL4A4 p.Gly897Glu VAR_001912 rs121912860
4 COL4A4 p.Gly116Glu VAR_031623
5 COL4A4 p.Gly960Arg VAR_031624 rs769783985
6 COL4A4 p.Gly999Glu VAR_031625 rs13027659
7 COL4A4 p.Pro1132Leu VAR_031626

ClinVar genetic disease variations for Hematuria, Benign Familial:

6
(show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL4A4 NM_000092.4(COL4A4): c.2690G> A (p.Gly897Glu) single nucleotide variant Pathogenic rs121912860 GRCh37 Chromosome 2, 227920687: 227920687
2 COL4A4 NM_000092.4(COL4A4): c.2690G> A (p.Gly897Glu) single nucleotide variant Pathogenic rs121912860 GRCh38 Chromosome 2, 227055971: 227055971
3 COL4A4 COL4A4, 1-BP INS, 3222A insertion Pathogenic
4 COL4A4 COL4A4, GLY960ARG undetermined variant Pathogenic
5 COL4A3 NM_000091.4(COL4A3): c.3044G> A (p.Gly1015Glu) single nucleotide variant Pathogenic rs121912826 GRCh37 Chromosome 2, 228154778: 228154778
6 COL4A3 NM_000091.4(COL4A3): c.3044G> A (p.Gly1015Glu) single nucleotide variant Pathogenic rs121912826 GRCh38 Chromosome 2, 227290062: 227290062
7 COL4A4 NM_000092.4(COL4A4): c.2986G> A (p.Gly996Arg) single nucleotide variant Pathogenic rs370474706 GRCh37 Chromosome 2, 227915857: 227915857
8 COL4A4 NM_000092.4(COL4A4): c.2986G> A (p.Gly996Arg) single nucleotide variant Pathogenic rs370474706 GRCh38 Chromosome 2, 227051141: 227051141
9 COL4A4 NM_000092.4(COL4A4): c.2320G> C (p.Gly774Arg) single nucleotide variant Likely pathogenic rs569681869 GRCh37 Chromosome 2, 227924184: 227924184
10 COL4A4 NM_000092.4(COL4A4): c.2320G> C (p.Gly774Arg) single nucleotide variant Likely pathogenic rs569681869 GRCh38 Chromosome 2, 227059468: 227059468
11 COL4A4 NM_000092.4(COL4A4): c.1100-2A> C single nucleotide variant Pathogenic rs869025329 GRCh37 Chromosome 2, 227963516: 227963516
12 COL4A4 NM_000092.4(COL4A4): c.1100-2A> C single nucleotide variant Pathogenic rs869025329 GRCh38 Chromosome 2, 227098800: 227098800
13 COL4A3 NM_000091.4(COL4A3): c.765G> T (p.Thr255=) single nucleotide variant Pathogenic rs869025328 GRCh37 Chromosome 2, 228118354: 228118354
14 COL4A3 NM_000091.4(COL4A3): c.765G> T (p.Thr255=) single nucleotide variant Pathogenic rs869025328 GRCh38 Chromosome 2, 227253638: 227253638
15 COL4A3 NM_000091.4(COL4A3): c.765+2T> C single nucleotide variant Pathogenic rs869025326 GRCh37 Chromosome 2, 228118356: 228118356
16 COL4A3 NM_000091.4(COL4A3): c.765+2T> C single nucleotide variant Pathogenic rs869025326 GRCh38 Chromosome 2, 227253640: 227253640
17 COL4A3 NM_000091.4(COL4A3): c.3410G> A (p.Gly1137Asp) single nucleotide variant Pathogenic rs869025327 GRCh37 Chromosome 2, 228159278: 228159278
18 COL4A3 NM_000091.4(COL4A3): c.3410G> A (p.Gly1137Asp) single nucleotide variant Pathogenic rs869025327 GRCh38 Chromosome 2, 227294562: 227294562
19 COL4A3 NM_000091.4(COL4A3): c.833dupT (p.Pro279Alafs) duplication Likely pathogenic GRCh37 Chromosome 2, 228119376: 228119376
20 COL4A3 NM_000091.4(COL4A3): c.833dupT (p.Pro279Alafs) duplication Likely pathogenic GRCh38 Chromosome 2, 227254660: 227254660
21 COL4A3 NM_000091.4(COL4A3): c.2657-1G> T single nucleotide variant Uncertain significance rs373324875 GRCh37 Chromosome 2, 228148482: 228148482
22 COL4A3 NM_000091.4(COL4A3): c.2657-1G> T single nucleotide variant Uncertain significance rs373324875 GRCh38 Chromosome 2, 227283766: 227283766
23 COL4A3 NM_000091.4(COL4A3): c.2746+17C> T single nucleotide variant Uncertain significance rs765408537 GRCh38 Chromosome 2, 227283873: 227283873
24 CLCNKB NM_000085.4(CLCNKB): c.700T> C (p.Trp234Arg) single nucleotide variant Uncertain significance rs144517772 GRCh37 Chromosome 1, 16375659: 16375659
25 CLCNKB NM_000085.4(CLCNKB): c.700T> C (p.Trp234Arg) single nucleotide variant Uncertain significance rs144517772 GRCh38 Chromosome 1, 16049164: 16049164
26 CLCNKB NM_000085.4(CLCNKB): c.937_940dup (p.Arg314Lysfs) duplication Likely pathogenic GRCh38 Chromosome 1, 16049885: 16049888
27 CLCNKB NM_000085.4(CLCNKB): c.937_940dup (p.Arg314Lysfs) duplication Likely pathogenic GRCh37 Chromosome 1, 16376380: 16376383
28 COL4A4 NM_000092.4(COL4A4): c.4394G> A (p.Gly1465Asp) single nucleotide variant Likely pathogenic rs533297350 GRCh38 Chromosome 2, 227010441: 227010441
29 COL4A4 NM_000092.4(COL4A4): c.4394G> A (p.Gly1465Asp) single nucleotide variant Likely pathogenic rs533297350 GRCh37 Chromosome 2, 227875157: 227875157
30 COL4A3 NM_000091.4(COL4A3): c.2746+17C> T single nucleotide variant Uncertain significance rs765408537 GRCh37 Chromosome 2, 228148589: 228148589
31 COL4A5 NM_033380.2(COL4A5): c.808G> A (p.Gly270Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 108580560: 108580560
32 COL4A5 NM_033380.2(COL4A5): c.808G> A (p.Gly270Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 107823790: 107823790
33 COL4A5 NM_033380.2(COL4A5): c.1424-2_1430delAGGTGACAA deletion Pathogenic GRCh38 Chromosome X, 108595507: 108595515
34 COL4A5 NM_033380.2(COL4A5): c.1424-2_1430delAGGTGACAA deletion Pathogenic GRCh37 Chromosome X, 107838737: 107838745
35 COL4A5 NM_000495.4(COL4A5): c.4888dup (p.Ile1630Asnfs) duplication Likely pathogenic GRCh38 Chromosome X, 108695351: 108695351
36 COL4A5 NM_000495.4(COL4A5): c.4888dup (p.Ile1630Asnfs) duplication Likely pathogenic GRCh37 Chromosome X, 107938581: 107938581

Expression for Hematuria, Benign Familial

Search GEO for disease gene expression data for Hematuria, Benign Familial.

Pathways for Hematuria, Benign Familial

Pathways related to Hematuria, Benign Familial according to KEGG:

37
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512

Pathways related to Hematuria, Benign Familial according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 COL4A3 COL4A4 COL4A5
2
Show member pathways
12.89 COL4A3 COL4A4 COL4A5
3
Show member pathways
12.63 COL4A3 COL4A4 COL4A5
4
Show member pathways
12.6 COL4A3 COL4A4 COL4A5
5
Show member pathways
12.55 COL4A3 COL4A4 COL4A5
6
Show member pathways
12.48 COL4A3 COL4A4 COL4A5
7
Show member pathways
12.42 COL4A3 COL4A4 COL4A5
8 12.41 COL4A3 COL4A4 COL4A5
9
Show member pathways
12.33 COL4A3 COL4A4 COL4A5
10
Show member pathways
12.21 COL4A3 COL4A4 COL4A5
11
Show member pathways
11.81 COL4A3 COL4A4 COL4A5
12 11.6 COL4A3 COL4A4 COL4A5
13 11.56 COL4A3 COL4A4 COL4A5
14 11.51 COL4A3 COL4A4 COL4A5
15 11.37 COL4A3 COL4A4 COL4A5
16 11.22 COL4A3 COL4A4 COL4A5
17 11.02 COL4A3 COL4A4 COL4A5
18 10.73 COL4A3 COL4A4 COL4A5
19 10.37 COL4A3 COL4A4 COL4A5

GO Terms for Hematuria, Benign Familial

Cellular components related to Hematuria, Benign Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.5 COL4A3 COL4A4 COL4A5
2 collagen trimer GO:0005581 9.33 COL4A3 COL4A4 COL4A5
3 basal lamina GO:0005605 9.26 COL4A4 COL4A5
4 basement membrane GO:0005604 9.13 COL4A3 COL4A4 COL4A5
5 collagen type IV trimer GO:0005587 8.8 COL4A3 COL4A4 COL4A5

Biological processes related to Hematuria, Benign Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.43 COL4A3 COL4A4 COL4A5
2 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.16 COL4A3 COL4A5
3 glomerular basement membrane development GO:0032836 8.96 COL4A3 COL4A4
4 collagen catabolic process GO:0030574 8.8 COL4A3 COL4A4 COL4A5

Molecular functions related to Hematuria, Benign Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.8 COL4A3 COL4A4 COL4A5

Sources for Hematuria, Benign Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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