MCID: ALP047
MIFTS: 28

Alport Syndrome and Thin Basement Membrane Nephropathy

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Alport Syndrome and Thin Basement Membrane Nephropathy

MalaCards integrated aliases for Alport Syndrome and Thin Basement Membrane Nephropathy:

Name: Alport Syndrome and Thin Basement Membrane Nephropathy 23 24
Alport Syndrome and Thin Basement Membrane Disease 24
Alport Syndromethin Basement Membrane Disease 23
Alport Syndrome and Benign Familial Hematuria 24
Alport Syndromebenign Familial Hematuria 23

Characteristics:

GeneReviews:

23
Penetrance Penetrance may be decreased in adas; at present, data are insufficient to draw a definitive conclusion...

Classifications:



Summaries for Alport Syndrome and Thin Basement Membrane Nephropathy

MalaCards based summary : Alport Syndrome and Thin Basement Membrane Nephropathy, also known as alport syndrome and thin basement membrane disease, is related to membranous nephropathy and alport syndrome. An important gene associated with Alport Syndrome and Thin Basement Membrane Nephropathy is COL4A5 (Collagen Type IV Alpha 5 Chain), and among its related pathways/superpathways are Developmental Biology and Integrin Pathway. The drugs Enalapril and Enalaprilat have been mentioned in the context of this disorder. Related phenotypes are renal/urinary system and vision/eye

GeneReviews: NBK1207

Related Diseases for Alport Syndrome and Thin Basement Membrane Nephropathy

Graphical network of the top 20 diseases related to Alport Syndrome and Thin Basement Membrane Nephropathy:



Diseases related to Alport Syndrome and Thin Basement Membrane Nephropathy

Symptoms & Phenotypes for Alport Syndrome and Thin Basement Membrane Nephropathy

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

44
id 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 Alport Syndrome and Thin Basement Membrane Nephropathy

Drugs for Alport Syndrome and Thin Basement Membrane Nephropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Enalapril Approved, Vet_approved 75847-73-3 5362032 40466924
2
Enalaprilat Approved 76420-72-9 6917719
3
Ramipril Approved 87333-19-5 5362129
4
Spironolactone Approved 1952-01-7, 52-01-7 5833
5 Angiotensin-Converting Enzyme Inhibitors
6 HIV Protease Inhibitors
7
protease inhibitors
8 diuretics
9 Diuretics, Potassium Sparing
10 Hormone Antagonists
11 Hormones
12 Hormones, Hormone Substitutes, and Hormone Antagonists
13 Hydroxymethylglutaryl-CoA Reductase Inhibitors
14 Mineralocorticoid Receptor Antagonists
15 Mineralocorticoids
16 Natriuretic Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Enalapril in Collagen Type 4 Nephropathy Completed NCT01465126
2 European Alport Therapy Registry - European Initiative Towards Delaying Renal Failure in Alport Syndrome Recruiting NCT02378805 ACE-inhibitor;AT1-inhibitor;HMG-Coenzyme inhibitor (statin);Spironolactone;Paricalcitol

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

Genetic Tests for Alport Syndrome and Thin Basement Membrane Nephropathy

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

id Genetic test Affiliating Genes
1 Alport Syndrome and Thin Basement Membrane Nephropathy 24 COL4A5

Anatomical Context for Alport Syndrome and Thin Basement Membrane Nephropathy

Publications for Alport Syndrome and Thin Basement Membrane Nephropathy

Articles related to Alport Syndrome and Thin Basement Membrane Nephropathy:

id Title Authors Year
1
Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. ( 26809805 )
2016
2
Morphological diagnosis of Alport syndrome and thin basement membrane nephropathy by low vacuum scanning electron microscopy. ( 25355442 )
2014
3
Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. ( 23349312 )
2013
4
Alport syndrome and thin basement membrane nephropathy. ( 17570934 )
2007
5
A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy. ( 17726307 )
2007
6
Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. ( 15021198 )
2004
7
Differential diagnosis between X-linked Alport syndrome and thin basement membrane nephropathy. ( 15327434 )
2004
8
Alport syndrome and thin basement membrane nephropathy: unraveling the tangled strands of type IV collagen. ( 14871434 )
2004
9
Alport Syndrome and Thin Basement Membrane Nephropathy: Diseases Arising from Mutations in Type IV Collagen. ( 17657099 )
2003
10
Alport Syndrome and Thin Basement Membrane Nephropathy ( 20301386 )
1993

Variations for Alport Syndrome and Thin Basement Membrane Nephropathy

Expression for Alport Syndrome and Thin Basement Membrane Nephropathy

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

Pathways for Alport Syndrome and Thin Basement Membrane Nephropathy

Pathways related to Alport Syndrome and Thin Basement Membrane Nephropathy according to GeneCards Suite gene sharing:

(show all 18)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 COL4A3 COL4A4 COL4A5
2
Show member pathways
12.88 COL4A3 COL4A4 COL4A5
3
Show member pathways
12.62 COL4A3 COL4A4 COL4A5
4
Show member pathways
12.48 COL4A3 COL4A4 COL4A5
5
Show member pathways
12.42 COL4A3 COL4A4 COL4A5
6
Show member pathways
12.34 COL4A3 COL4A4 COL4A5
7 12.26 COL4A3 COL4A4 COL4A5
8 12.25 COL4A3 COL4A4 COL4A5
9
Show member pathways
12.23 COL4A3 COL4A4 COL4A5
10
Show member pathways
11.81 COL4A3 COL4A4 COL4A5
11 11.6 COL4A3 COL4A4 COL4A5
12 11.56 COL4A3 COL4A4 COL4A5
13 11.47 COL4A3 COL4A4 COL4A5
14 11.37 COL4A3 COL4A4 COL4A5
15 11.22 COL4A3 COL4A4 COL4A5
16 11.02 COL4A3 COL4A4 COL4A5
17 10.73 COL4A3 COL4A4 COL4A5
18 10.37 COL4A3 COL4A4 COL4A5

GO Terms for Alport Syndrome and Thin Basement Membrane Nephropathy

Cellular components related to Alport Syndrome and Thin Basement Membrane Nephropathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.54 COL4A3 COL4A4 COL4A5
2 endoplasmic reticulum lumen GO:0005788 9.5 COL4A3 COL4A4 COL4A5
3 collagen trimer GO:0005581 9.33 COL4A3 COL4A4 COL4A5
4 basal lamina GO:0005605 9.26 COL4A4 COL4A5
5 basement membrane GO:0005604 9.13 COL4A3 COL4A4 COL4A5
6 collagen type IV trimer GO:0005587 8.8 COL4A3 COL4A4 COL4A5

Biological processes related to Alport Syndrome and Thin Basement Membrane Nephropathy according to GeneCards Suite gene sharing:

id 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 Alport Syndrome and Thin Basement Membrane Nephropathy according to GeneCards Suite gene sharing:

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

Sources for Alport Syndrome and Thin Basement Membrane Nephropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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