MCID: THN006
MIFTS: 37

Thin Basement Membrane Nephropathy malady

Nephrological diseases, Genetic diseases categories

Summaries for Thin Basement Membrane Nephropathy

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46OMIM, 32MalaCards
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MalaCards: Thin Basement Membrane Nephropathy, also known as benign familial hematuria, is related to alport syndrome and focal segmental glomerulosclerosis. An important gene associated with Thin Basement Membrane Nephropathy is COL4A3 (collagen, type IV, alpha 3 (Goodpasture antigen)), and among its related pathways are Nephrin interactions and Scavenging by Class A Receptors. The compounds cyclosporin a and arresten have been mentioned in the context of this disorder. Related mouse phenotypes are other and growth/size.

Description from OMIM:46 141200

Aliases & Classifications for Thin Basement Membrane Nephropathy

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Sources:
42NIH Rare Diseases, 60UMLS, 46OMIM, 44Novoseek
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Classifications:

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


Aliases & Descriptions:

thin basement membrane nephropathy 42
benign familial hematuria 42 60
familial benign essential hematuria 42
familial hematuric nephritis 42
benign hereditary nephritis 42
hematuria, familial benign 46
benign essential hematuria 42
hematuria, benign familial 46
hematuria benign familial 44


Related Diseases for Thin Basement Membrane Nephropathy

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Thin Basement Membrane Nephropathy:



Diseases related to thin basement membrane nephropathy

Clinical Features for Thin Basement Membrane Nephropathy

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46OMIM
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Clinical features from OMIM:

141200

Clinical synopsis from OMIM:

141200

Drugs & Therapeutics for Thin Basement Membrane Nephropathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Thin Basement Membrane Nephropathy

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Anatomical Context for Thin Basement Membrane Nephropathy

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Animal Models for Thin Basement Membrane Nephropathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Thin Basement Membrane Nephropathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053958.5COL4A3, COL4A1, COL4A2
2MP:00053787.5ACTN4, NPHS2, COL4A4, COL4A1, COL4A2, COL4A3
3MP:00053857.5ACTN4, COL4A2, COL4A5, COL4A1, COL4A3, NPHS2
4MP:00053677.1CD79A, COL4A5, COL4A1, COL4A4, COL4A3, NPHS2
5MP:00107687.0COL4A5, ACTN4, NPHS2, COL4A3, COL4A4, COL4A1
6MP:00053766.1NPHS2, FABP1, CD79A, ACTN4, COL4A3, COL4A4

Publications for Thin Basement Membrane Nephropathy

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Genetic Variations for Thin Basement Membrane Nephropathy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Thin Basement Membrane Nephropathy:

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

Expression for genes affiliated with Thin Basement Membrane Nephropathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thin Basement Membrane Nephropathy

Search GEO for disease gene expression data for Thin Basement Membrane Nephropathy.

Pathways for genes affiliated with Thin Basement Membrane Nephropathy

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Sources:
53Reactome, 29KEGG, 12EMD Millipore, 51QIAGEN, 49PharmGKB, 37NCBI BioSystems Database
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Pathways related to Thin Basement Membrane Nephropathy according to GeneCards/GeneDecks:

(show all 25)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5ACTN4, NPHS2
29.1COL4A1, COL4A2
39.1COL4A1, COL4A2
4
Hide members
8.4COL4A2, COL4A5, COL4A1, COL4A4
5
Cell adhesion ECM remodeling
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8.1COL4A2, COL4A5, COL4A1, COL4A4, COL4A3
6
Hide members
8.1COL4A2, COL4A5, COL4A1, COL4A4, COL4A3
78.1COL4A2, COL4A5, COL4A1, COL4A4, COL4A3
8
Hide members
8.1COL4A2, COL4A5, COL4A1, COL4A4, COL4A3
9
Hide members
8.1COL4A2, COL4A5, COL4A1, COL4A4, COL4A3
108.1COL4A2, COL4A5, COL4A1, COL4A4, COL4A3
118.1COL4A2, COL4A5, COL4A1, COL4A4, COL4A3
128.1COL4A2, COL4A5, COL4A1, COL4A4, COL4A3
13
Hide members
8.1COL4A2, COL4A5, COL4A1, COL4A4, COL4A3
148.1COL4A2, COL4A5, COL4A1, COL4A4, COL4A3
15
Hide members
8.1COL4A2, COL4A5, COL4A1, COL4A4, COL4A3
168.1COL4A2, COL4A5, COL4A1, COL4A4, COL4A3
178.1COL4A3, COL4A4, COL4A1, COL4A5, COL4A2
18
Hide members
8.1COL4A3, COL4A4, COL4A1, COL4A5, COL4A2
19
Hide members
8.1COL4A3, COL4A4, COL4A1, COL4A5, COL4A2
20
Hide members
7.6COL4A2, COL4A5, COL4A1, COL4A4, COL4A3, ACTN4
21
Hide members
7.6COL4A2, COL4A5, COL4A1, COL4A4, COL4A3, ACTN4
227.6COL4A2, COL4A5, COL4A1, COL4A4, COL4A3, ACTN4
23
Cell adhesion Integrin-mediated cell adhesion and migration
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7.6COL4A2, COL4A5, COL4A1, COL4A4, COL4A3, ACTN4
24
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
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7.6ACTN4, COL4A3, COL4A4, COL4A1, COL4A5, COL4A2
25
Hide members
7.5COL4A2, COL4A5, COL4A1, COL4A4, COL4A3, CD79A

Compounds for genes affiliated with Thin Basement Membrane Nephropathy

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Sources:
44Novoseek, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Thin Basement Membrane Nephropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclosporin a44 28 5911.1CD79A, NPHS2, COL4A3
2arresten448.7COL4A3, COL4A1, COL4A2
3vegf448.3COL4A2, COL4A3, FABP1, CD79A

GO Terms for genes affiliated with Thin Basement Membrane Nephropathy

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16Gene Ontology
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Cellular components related to Thin Basement Membrane Nephropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basal laminaGO:0056059.8COL4A4, COL4A5
2collagen type IVGO:0055878.1COL4A3, COL4A4, COL4A1, COL4A5, COL4A2
3endoplasmic reticulum lumenGO:0057888.0COL4A2, COL4A5, COL4A1, COL4A4, COL4A3
4extracellular regionGO:0055767.3COL4A2, COL4A5, COL4A1, COL4A4, COL4A3, ACTN4

Biological processes related to Thin Basement Membrane Nephropathy according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:0328369.7COL4A3, COL4A4
2negative regulation of angiogenesisGO:0165259.6COL4A3, COL4A2
3neuromuscular junction developmentGO:0075289.0COL4A1, COL4A5
4collagen catabolic processGO:0305748.2COL4A3, COL4A4, COL4A1, COL4A5, COL4A2
5extracellular matrix disassemblyGO:0226178.2COL4A2, COL4A5, COL4A1, COL4A4, COL4A3
6extracellular matrix organizationGO:0301988.2COL4A2, COL4A5, COL4A1, COL4A4, COL4A3
7axon guidanceGO:0074118.1COL4A2, COL4A5, COL4A1, COL4A4, COL4A3

Molecular functions related to Thin Basement Membrane Nephropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052018.1COL4A3, COL4A4, COL4A1, COL4A5, COL4A2

Products for genes affiliated with Thin Basement Membrane Nephropathy

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Sources for Thin Basement Membrane Nephropathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet