MCID: ALP047
MIFTS: 23

Alport Syndrome and Thin Basement Membrane Nephropathy malady

Nephrological diseases, Genetic diseases categories

Summaries for Alport Syndrome and Thin Basement Membrane Nephropathy

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19GeneReviews, 32MalaCards
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MalaCards: Alport Syndrome and Thin Basement Membrane Nephropathy, also known as alport syndromethin basement membrane disease, is related to alport syndrome and collagen disease. An important gene associated with Alport Syndrome and Thin Basement Membrane Nephropathy is COL4A5 (collagen, type IV, alpha 5), and among its related pathways are Non-integrin membrane-ECM interactions and Anchoring fibril formation. Related mouse phenotype renal/urinary system.

GeneReviews summary for alport

Aliases & Classifications for Alport Syndrome and Thin Basement Membrane Nephropathy

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19GeneReviews, 20GeneTests
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Classifications:

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


Aliases & Descriptions:

alport syndrome and thin basement membrane nephropathy 19 20
alport syndromethin basement membrane disease 19
alport syndromebenign familial hematuria 19


Related Diseases for Alport Syndrome and Thin Basement Membrane Nephropathy

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Alport Syndrome and Thin Basement Membrane Nephropathy:



Diseases related to alport syndrome and thin basement membrane nephropathy

Clinical Features for Alport Syndrome and Thin Basement Membrane Nephropathy

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Drugs & Therapeutics for Alport Syndrome and Thin Basement Membrane Nephropathy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Alport Syndrome and Thin Basement Membrane Nephropathy

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20GeneTests
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Genetic tests related to Alport Syndrome and Thin Basement Membrane Nephropathy:

id Genetic test Affiliating Genes
1 Alport Syndrome and Thin Basement Membrane Nephropathy20 COL4A5

Anatomical Context for Alport Syndrome and Thin Basement Membrane Nephropathy

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Animal Models for Alport Syndrome and Thin Basement Membrane Nephropathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Alport Syndrome and Thin Basement Membrane Nephropathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5COL4A3, COL4A4, COL4A5

Publications for Alport Syndrome and Thin Basement Membrane Nephropathy

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50PubMed
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Articles related to Alport Syndrome and Thin Basement Membrane Nephropathy:

idTitleAuthorsYear
1
Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. (23349312)
2013
2
Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis. (19195966)
2009
3
Alport syndrome and thin basement membrane nephropathy. (17570934)
2007
4
A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy. (17726307)
2007
5
Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. (15021198)
2004
6
Differential diagnosis between X-linked Alport syndrome and thin basement membrane nephropathy. (15327434)
2004
7
Alport syndrome and thin basement membrane nephropathy: unraveling the tangled strands of type IV collagen. (14871434)
2004
8
Alport Syndrome and Thin Basement Membrane Nephropathy: Diseases Arising from Mutations in Type IV Collagen. (17657099)
2003
9
Alport Syndrome and Thin Basement Membrane Nephropathy (20301386)
1993

Genetic Variations for Alport Syndrome and Thin Basement Membrane Nephropathy

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Expression for genes affiliated with Alport Syndrome and 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 Alport Syndrome and Thin Basement Membrane Nephropathy

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Pathways for genes affiliated with Alport Syndrome and Thin Basement Membrane Nephropathy

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

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.3COL4A4, COL4A5
28.5COL4A3, COL4A4, COL4A5
38.5COL4A3, COL4A4, COL4A5
4
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8.5COL4A3, COL4A4, COL4A5
5
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8.5COL4A3, COL4A4, COL4A5
68.5COL4A3, COL4A4, COL4A5
7
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8.5COL4A3, COL4A4, COL4A5
8
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8.5COL4A3, COL4A4, COL4A5
98.5COL4A3, COL4A4, COL4A5
10
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8.5COL4A3, COL4A4, COL4A5
11
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
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8.5COL4A3, COL4A4, COL4A5
12
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8.5COL4A3, COL4A4, COL4A5
13
Hide members
8.5COL4A3, COL4A4, COL4A5
148.5COL4A3, COL4A4, COL4A5
15
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8.5COL4A5, COL4A4, COL4A3
168.5COL4A5, COL4A4, COL4A3
17
Cell adhesion Integrin-mediated cell adhesion and migration
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8.5COL4A5, COL4A4, COL4A3
188.5COL4A5, COL4A4, COL4A3
198.5COL4A5, COL4A4, COL4A3
20
Hide members
8.5COL4A5, COL4A4, COL4A3
21
Cell adhesion ECM remodeling
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8.5COL4A5, COL4A4, COL4A3
22
Hide members
8.5COL4A5, COL4A4, COL4A3

Compounds for genes affiliated with Alport Syndrome and Thin Basement Membrane Nephropathy

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GO Terms for genes affiliated with Alport Syndrome and Thin Basement Membrane Nephropathy

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

idNameGO IDScoreTop Affiliating Genes
1basal laminaGO:0056059.0COL4A4, COL4A5
2collagen type IVGO:0055878.5COL4A3, COL4A4, COL4A5
3extracellular regionGO:0055768.5COL4A3, COL4A4, COL4A5
4endoplasmic reticulum lumenGO:0057888.4COL4A5, COL4A4, COL4A3

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

idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:0328369.0COL4A4, COL4A3
2collagen catabolic processGO:0305748.6COL4A3, COL4A4, COL4A5
3extracellular matrix disassemblyGO:0226178.5COL4A3, COL4A4, COL4A5
4axon guidanceGO:0074118.5COL4A3, COL4A4, COL4A5
5extracellular matrix organizationGO:0301988.2COL4A3, COL4A4, COL4A5

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052018.5COL4A3, COL4A4, COL4A5

Products for genes affiliated with Alport Syndrome and Thin Basement Membrane Nephropathy

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Sources for Alport Syndrome and 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