MCID: HMT008
MIFTS: 28

Hematuria, Benign Familial malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Aliases & Classifications for Hematuria, Benign Familial

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 43Novoseek, 60UMLS
See all sources

Hematuria, Benign Familial, Aliases & Descriptions:

Name: Hematuria, Benign Familial 45 10 60
Familial Benign Essential Hematuria 41
Thin Basement Membrane Nephropathy 41
Thin Basement Membrane Disease 60
Familial Hematuric Nephritis 41
Benign Hereditary Nephritis 41
 
Benign Essential Hematuria 41
Hematuria, Familial Benign 10
Thin Membrane Nephropathy 41
Benign Familial Hematuria 41
Hematuria Benign Familial 43
Tbmn 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases


External Ids:

OMIM45 141200

Summaries for Hematuria, Benign Familial

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OMIM:45 Benign familial hematuria is an autosomal dominant condition manifest as nonprogressive isolated microscopic hematuria... (141200) more...

MalaCards based summary: Hematuria, Benign Familial, also known as familial benign essential hematuria, is related to alport syndrome and alport syndrome, autosomal recessive, and has symptoms including autosomal dominant inheritance, hematuria and nonprogressive disorder. An important gene associated with Hematuria, Benign Familial is COL4A3 (collagen, type IV, alpha 3 (Goodpasture antigen)), and among its related pathways are Integrin cell surface interactions and Signaling by FGFR. Related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Related Diseases for Hematuria, Benign Familial

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Graphical network of diseases related to Hematuria, Benign Familial:



Diseases related to hematuria, benign familial

Symptoms for Hematuria, Benign Familial

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Symptoms by clinical synopsis from OMIM:

141200

Clinical features from OMIM:

141200

HPO human phenotypes related to Hematuria, Benign Familial:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hematuria HP:0000790
3 nonprogressive disorder HP:0003680
4 thin glomerular basement membrane HP:0012577

Drugs & Therapeutics for Hematuria, Benign Familial

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Drug clinical trials:

Search ClinicalTrials for Hematuria, Benign Familial

Search NIH Clinical Center for Hematuria, Benign Familial

Genetic Tests for Hematuria, Benign Familial

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Anatomical Context for Hematuria, Benign Familial

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Animal Models for Hematuria, Benign Familial or affiliated genes

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MGI Mouse Phenotypes related to Hematuria, Benign Familial:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0COL4A4, COL4A3
2MP:00053678.4COL4A5, COL4A4, COL4A3
3MP:00053768.2COL4A5, COL4A4, COL4A3

Publications for Hematuria, Benign Familial

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Variations for Hematuria, Benign Familial

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

62
id Symbol AA change Variation ID SNP ID
1COL4A3p.Gly985ValVAR_030948
2COL4A3p.Gly1015GluVAR_030949
3COL4A4p.Gly897GluVAR_001912
4COL4A4p.Gly116GluVAR_031623
5COL4A4p.Gly960ArgVAR_031624
6COL4A4p.Gly999GluVAR_031625rs13027659
7COL4A4p.Pro1132LeuVAR_031626

Clinvar genetic disease variations for Hematuria, Benign Familial:

6
id Gene Variation Type Significance SNP ID Assembly Location
1COL4A4NM_000092.4(COL4A4): c.2690G> A (p.Gly897Glu)single nucleotide variantPathogenicrs121912860GRCh37Chr 2, 227920687: 227920687
2COL4A4COL4A4, 1-BP INS, 3222AinsertionPathogenic
3COL4A4COL4A4, GLY960ARGundetermined variantPathogenic
4NM_000091.4(COL4A3): c.3044G> A (p.Gly1015Glu)single nucleotide variantPathogenicrs121912826GRCh37Chr 2, 228154778: 228154778
5NM_000091.4(COL4A3): c.2954G> T (p.Gly985Val)single nucleotide variantPathogenicrs121912827GRCh37Chr 2, 228153938: 228153938

Expression for genes affiliated with Hematuria, Benign Familial

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

Pathways for genes affiliated with Hematuria, Benign Familial

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

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0COL4A3, COL4A4
2
Show member pathways
8.5COL4A5, COL4A4, COL4A3
38.5COL4A3, COL4A4, COL4A5
48.5COL4A5, COL4A4, COL4A3
5
Show member pathways
8.5COL4A3, COL4A4, COL4A5
6
Show member pathways
8.5COL4A5, COL4A4, COL4A3
7
Show member pathways
8.5COL4A5, COL4A4, COL4A3
8
Show member pathways
8.5COL4A5, COL4A4, COL4A3
9
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
8.5COL4A5, COL4A4, COL4A3
10
Show member pathways
8.5COL4A5, COL4A4, COL4A3
11
Show member pathways
8.5COL4A3, COL4A4, COL4A5
128.5COL4A5, COL4A4, COL4A3
13
Show member pathways
8.5COL4A3, COL4A4, COL4A5
148.5COL4A3, COL4A4, COL4A5
158.5COL4A3, COL4A4, COL4A5
168.5COL4A3, COL4A4, COL4A5
17
Show member pathways
Metalloproteases in connective tissue degradation
8.5COL4A5, COL4A4, COL4A3
18
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
8.5COL4A5, COL4A4, COL4A3
19
Show member pathways
8.5COL4A3, COL4A4, COL4A5
208.5COL4A5, COL4A4, COL4A3
218.5COL4A5, COL4A4, COL4A3

Compounds for genes affiliated with Hematuria, Benign Familial

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GO Terms for genes affiliated with Hematuria, Benign Familial

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

idNameGO IDScoreTop Affiliating Genes
1basal laminaGO:00056058.8COL4A5, COL4A4
2collagen type IVGO:00055878.5COL4A5, COL4A4, COL4A3
3extracellular regionGO:00055768.5COL4A5, COL4A4, COL4A3
4endoplasmic reticulum lumenGO:00057888.4COL4A3, COL4A4, COL4A5

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

idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:00328368.9COL4A3, COL4A4
2collagen catabolic processGO:00305748.6COL4A5, COL4A4, COL4A3
3extracellular matrix disassemblyGO:00226178.5COL4A5, COL4A4, COL4A3
4axon guidanceGO:00074118.5COL4A5, COL4A4, COL4A3
5extracellular matrix organizationGO:00301988.2COL4A5, COL4A4, COL4A3

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052018.5COL4A5, COL4A4, COL4A3

Products for genes affiliated with Hematuria, Benign Familial

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Sources for Hematuria, Benign Familial

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet