MCID: THN006
MIFTS: 37

Thin Basement Membrane Nephropathy malady

Nephrological, Genetic categories

Summaries for Thin Basement Membrane Nephropathy

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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. Affiliated tissues include liver, and related mouse phenotypes are other and growth/size.

Description from OMIM:47 141200

Aliases & Classifications for Thin Basement Membrane Nephropathy

Sources:
43NIH Rare Diseases, 61UMLS, 47OMIM, 45Novoseek
See all sources

Classifications:

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


Aliases & Descriptions:

thin basement membrane nephropathy 43
benign familial hematuria 43 61
familial benign essential hematuria 43
familial hematuric nephritis 43
benign hereditary nephritis 43
hematuria, familial benign 47
benign essential hematuria 43
hematuria, benign familial 47
hematuria benign familial 45


Related Diseases for Thin Basement Membrane Nephropathy

Sources:
17GeneCards, 18GeneDecks
See all sources

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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

141200

Clinical synopsis from OMIM:

141200

Drugs & Therapeutics for Thin Basement Membrane Nephropathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Thin Basement Membrane Nephropathy

Drug clinical trials:

Search ClinicalTrials for Thin Basement Membrane Nephropathy

Search NIH Clinical Center for Thin Basement Membrane Nephropathy

Search CenterWatch for Thin Basement Membrane Nephropathy

Genetic Tests for Thin Basement Membrane Nephropathy

Anatomical Context for Thin Basement Membrane Nephropathy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Thin Basement Membrane Nephropathy:

33
Liver

Animal Models for Thin Basement Membrane Nephropathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Thin Basement Membrane Nephropathy

Sources:
51PubMed
See all sources

Articles related to Thin Basement Membrane Nephropathy:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. (23349312)
2013
2
Proteomic analysis of urinary exosomes from patients of early IgA nephropathy and thin basement membrane nephropathy. (21595033)
2011
3
Thin basement membrane nephropathy: is there genetic predisposition to more severe disease? (19018577)
2009
4
Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis. (19195966)
2009
5
Identification of novel variants in the COL4A4 gene in Korean patients with thin basement membrane nephropathy. (19675380)
2009
6
COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century. (18439107)
2008
7
Spectrum of collagen type IV nephropathies: from thin basement membrane nephropathy to Alport syndrome. (20804103)
2008
8
Incidence of thin basement membrane nephropathy in 990 consecutive renal biopsies examined with electron microscopy. (19117263)
2008
9
Internal carotid artery dissection, cerebral aneurysms and thin basement membrane nephropathy. (19159060)
2008
10
The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy. (18726620)
2008
11
Alport syndrome and thin basement membrane nephropathy. (17570934)
2007
12
A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy. (17726307)
2007
13
Thin basement membrane nephropathy cannot be diagnosed reliably in deparaffinized, formalin-fixed tissue. (17277340)
2007
14
Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)? (17216253)
2007
15
Thin basement membrane nephropathy: diffuse and segmental types. (17090197)
2006
16
Chronic renal failure and shortened lifespan in COL4A3+/- mice: an animal model for thin basement membrane nephropathy. (16775036)
2006
17
Persistent familial hematuria in children and the locus for thin basement membrane nephropathy. (16235097)
2005
18
Thin basement membrane nephropathy and renal transplantation. (15880331)
2005
19
Thin basement membrane nephropathy associated with other glomerular diseases. (15880329)
2005
20
The epidemiology of thin basement membrane nephropathy. (15880322)
2005
21
The nongenetic diagnosis of thin basement membrane nephropathy. (15880326)
2005
22
The risks of thin basement membrane nephropathy. (15880328)
2005
23
Thin basement membrane nephropathy in pregnancy. (15880330)
2005
24
The genetics of thin basement membrane nephropathy. (15880327)
2005
25
Pathology of thin basement membrane nephropathy. (15880325)
2005
26
The clinical features of thin basement membrane nephropathy. (15880323)
2005
27
Hematuria in thin basement membrane nephropathy. (15880324)
2005
28
Urinary liver-type fatty acid-binding protein: discrimination between IgA nephropathy and thin basement membrane nephropathy. (16118482)
2005
29
Thin basement membrane nephropathy and coincidental renal biopsy lesions. (15056261)
2004
30
Signs and symptoms of thin basement membrane nephropathy: a prospective regional study on primary glomerular disease-The Limburg Renal Registry. (15327380)
2004
31
Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. (15021198)
2004
32
Differential diagnosis between X-linked Alport syndrome and thin basement membrane nephropathy. (15327434)
2004
33
COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN). (14871398)
2004
34
Alport syndrome and thin basement membrane nephropathy: unraveling the tangled strands of type IV collagen. (14871434)
2004
35
Thin basement membrane nephropathy. (12969134)
2003
36
Alport Syndrome and Thin Basement Membrane Nephropathy: Diseases Arising from Mutations in Type IV Collagen. (17657099)
2003
37
Thin basement membrane nephropathy: a mutation in COL4A5 gene]. (11798584)
2001
38
Approach to the diagnosis of thin basement membrane nephropathy in females with the use of antibodies to type IV collagen. (11300933)
2001
39
X-linked thin basement membrane nephropathy was linked with COL4A5 gene]. (11798821)
2000
40
Association of thin basement membrane nephropathy with hypercalciuria, hyperuricosuria and nephrolithiasis. (9734616)
1998
41
Primary IgA glomerulonephritis with thin glomerular basement membrane: a peculiar pathological marker versus thin membrane nephropathy association. (7758330)
1995
42
Thin basement membrane nephropathy: a report of two cases. (8087726)
1994
43
Alport Syndrome and Thin Basement Membrane Nephropathy (20301386)
1993
44
Profuse haematuria and clot colic in thin basement membrane nephropathy. (1336143)
1992
45
Two cases of aortitis syndrome associated with thin basement membrane nephropathy. (1551250)
1992
46
Thin basement membrane nephropathy as a cause of recurrent haematuria in childhood. (2361650)
1990
47
Familial haematuria due to thin basement membrane nephropathy. (2371004)
1990
48
Thin-basement-membrane nephropathy in adults with persistent hematuria. (2909874)
1989
49
Thin-basement-membrane nephropathy. (2733737)
1989
50
Familial thin basement membrane nephropathy in children with asymptomatic microhematuria. (2739828)
1989

Genetic Variations for Thin Basement Membrane Nephropathy

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Thin Basement Membrane Nephropathy:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 52QIAGEN, 12EMD Millipore, 50PharmGKB, 38NCBI BioSystems Database
See all sources

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
39.1COL4A2, COL4A1
4
Hide members
8.4COL4A2, COL4A5, COL4A1, COL4A4
58.1COL4A1, COL4A5, COL4A4, COL4A3, COL4A2
6
Hide members
8.1COL4A2, COL4A5, COL4A1, COL4A4, COL4A3
7
Hide members
8.1COL4A2, COL4A4, COL4A5, COL4A1, COL4A3
88.1COL4A4, COL4A2, COL4A5, COL4A3, COL4A1
9
Hide members
8.1COL4A4, COL4A3, COL4A2, COL4A1, COL4A5
108.1COL4A2, COL4A5, COL4A1, COL4A3, COL4A4
11
Hide members
8.1COL4A5, COL4A2, COL4A1, COL4A4, COL4A3
128.1COL4A1, COL4A4, COL4A2, COL4A5, COL4A3
138.1COL4A3, COL4A1, COL4A4, COL4A2, COL4A5
14
Hide members
8.1COL4A1, COL4A4, COL4A3, COL4A5, COL4A2
15
Cell adhesion ECM remodeling
Hide members
8.1COL4A1, COL4A3, COL4A4, COL4A2, COL4A5
168.1COL4A5, COL4A4, COL4A1, COL4A3, COL4A2
17
Hide members
8.1COL4A5, COL4A2, COL4A1, COL4A4, COL4A3
188.1COL4A5, COL4A3, COL4A4, COL4A2, COL4A1
19
Hide members
8.1COL4A3, COL4A4, COL4A1, COL4A5, COL4A2
20
Hide members
7.6COL4A2, ACTN4, COL4A5, COL4A3, COL4A1, COL4A4
217.6ACTN4, COL4A3, COL4A4, COL4A1, COL4A5, COL4A2
22
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
7.6ACTN4, COL4A2, COL4A5, COL4A1, COL4A4, COL4A3
23
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
Hide members
7.6COL4A2, ACTN4, COL4A3, COL4A4, COL4A5, COL4A1
24
Hide members
7.6COL4A5, COL4A2, COL4A1, COL4A4, ACTN4, COL4A3
25
Hide members
7.5CD79A, COL4A3, COL4A4, COL4A5, COL4A2, COL4A1

Compounds for genes affiliated with Thin Basement Membrane Nephropathy

Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Thin Basement Membrane Nephropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclosporin a45 29 6011.1CD79A, COL4A3, NPHS2
2arresten458.7COL4A2, COL4A1, COL4A3
3vegf458.3CD79A, COL4A2, COL4A3, FABP1

GO Terms for genes affiliated with Thin Basement Membrane Nephropathy

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1basal laminaGO:0056059.8COL4A4, COL4A5
2collagen type IVGO:0055878.1COL4A5, COL4A2, COL4A3, COL4A4, COL4A1
3endoplasmic reticulum lumenGO:0057888.0COL4A5, COL4A1, COL4A4, COL4A3, COL4A2
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, COL4A2, COL4A5, COL4A1, COL4A4
5extracellular matrix disassemblyGO:0226178.2COL4A3, COL4A1, COL4A5, COL4A2, COL4A4
6extracellular matrix organizationGO:0301988.2COL4A4, COL4A1, COL4A5, COL4A2, COL4A3
7axon guidanceGO:0074118.1COL4A3, COL4A4, COL4A1, COL4A5, COL4A2

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thin Basement Membrane Nephropathy

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet