MCID: ALP047
MIFTS: 25

Alport Syndrome and Thin Basement Membrane Nephropathy malady

Genetic diseases (common), Nephrological diseases categories
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Summaries for Alport Syndrome and Thin Basement Membrane Nephropathy

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19GeneReviews, 33MalaCards
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MalaCards: Alport Syndrome and Thin Basement Membrane Nephropathy, also known as alport syndromethin basement membrane disease, is related to thin basement membrane nephropathy and alport syndrome. 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 Integrin cell surface interactions and Collagen biosynthesis and modifying enzymes. Related mouse phenotypes are hearing/vestibular/ear and 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 (common)
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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Diseases related to Alport Syndrome and Thin Basement Membrane Nephropathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1thin basement membrane nephropathy31.5COL4A3, COL4A4
2alport syndrome31.4COL4A3, COL4A4, COL4A5
3autosomal recessive alport syndrome10.0COL4A3, COL4A4
4autosomal dominant alport syndrome10.0COL4A3, COL4A4
5primary hyperoxaluria10.0COL4A5, COL4A4
6sensorineural hearing loss9.9COL4A5, COL4A4, COL4A3
7nephritis9.9COL4A3, COL4A4, COL4A5
8glomerulonephritis9.9COL4A5, COL4A4, COL4A3
9proteinuria9.9COL4A3, COL4A4, COL4A5

Graphical network of diseases related to Alport Syndrome and Thin Basement Membrane Nephropathy:



Diseases related to alport syndrome and thin basement membrane nephropathy

Symptoms 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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Alport Syndrome and Thin Basement Membrane Nephropathy

Search NIH Clinical Center for Alport Syndrome and Thin Basement Membrane Nephropathy

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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37MGI
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MGI Mouse Phenotypes related to Alport Syndrome and Thin Basement Membrane Nephropathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1COL4A4, COL4A3
2MP:00053678.4COL4A5, COL4A4, COL4A3
3MP:00053768.2COL4A5, COL4A4, COL4A3

Publications for Alport Syndrome and Thin Basement Membrane Nephropathy

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52PubMed
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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 basement membrane nephropathy. (17570934)
2007
3
A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy. (17726307)
2007
4
Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. (15021198)
2004
5
Differential diagnosis between X-linked Alport syndrome and thin basement membrane nephropathy. (15327434)
2004
6
Alport syndrome and thin basement membrane nephropathy: unraveling the tangled strands of type IV collagen. (14871434)
2004
7
Alport Syndrome and Thin Basement Membrane Nephropathy: Diseases Arising from Mutations in Type IV Collagen. (17657099)
2003
8
Alport Syndrome and Thin Basement Membrane Nephropathy (20301386)
1993

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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2BioGPS, 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:
50PathCards, 55Reactome, 53QIAGEN, 30KEGG, 60Thomson Reuters, 51PharmGKB, 38NCBI BioSystems Database, 12EMD Millipore
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Pathways related to Alport Syndrome and Thin Basement Membrane Nephropathy according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1COL4A3, COL4A4
2
Show member pathways
8.5COL4A3, COL4A4, COL4A5
38.5COL4A3, COL4A4, COL4A5
4
Show member pathways
8.5COL4A3, COL4A4, COL4A5
58.5COL4A3, COL4A4, COL4A5
6
Show member pathways
8.5COL4A3, COL4A4, COL4A5
78.5COL4A3, COL4A4, COL4A5
88.5COL4A3, COL4A4, COL4A5
9
Show member pathways
8.5COL4A3, COL4A4, COL4A5
10
Show member pathways
8.5COL4A5, COL4A4, COL4A3
11
Show member pathways
8.5COL4A5, COL4A4, COL4A3
128.5COL4A5, COL4A4, COL4A3
13
Show member pathways
8.5COL4A5, COL4A4, COL4A3
14
Show member pathways
8.5COL4A5, COL4A4, COL4A3
158.5COL4A5, COL4A4, COL4A3
16
Show member pathways
8.5COL4A5, COL4A4, COL4A3
178.5COL4A5, COL4A4, COL4A3
18
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
8.5COL4A5, COL4A4, COL4A3
198.5COL4A5, COL4A4, COL4A3
20
Show member pathways
8.5COL4A5, COL4A4, COL4A3
21
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
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:0056059.0COL4A5, COL4A4
2collagen type IVGO:0055878.5COL4A5, COL4A4, COL4A3
3extracellular regionGO:0055768.5COL4A5, COL4A4, COL4A3
4endoplasmic reticulum lumenGO:0057888.4COL4A3, COL4A4, COL4A5

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

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

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

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

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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet