TBMN
MCID: THN006
MIFTS: 45

Thin Basement Membrane Nephropathy (TBMN) malady

Genetic diseases, Rare diseases, Nephrological diseases categories
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Summaries for Thin Basement Membrane Nephropathy

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MalaCards based summary: Thin Basement Membrane Nephropathy, also known as thin membrane nephropathy, is related to alport syndrome and glomerulosclerosis, and has symptoms including An important gene associated with Thin Basement Membrane Nephropathy is COL4A3 (collagen, type IV, alpha 3 (Goodpasture antigen)), and among its related pathways are Binding and Uptake of Ligands by Scavenger Receptors and Integrin cell surface interactions. The compounds carnitine and arresten have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related mouse phenotypes are other and cardiovascular system.

Description from OMIM:46 141200

Aliases & Classifications for Thin Basement Membrane Nephropathy

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Sources:
42NIH Rare Diseases, 46OMIM, 44Novoseek, 62UMLS
See all sources

Thin Basement Membrane Nephropathy, Aliases & Descriptions:

Name: Thin Basement Membrane Nephropathy 42 62
Thin Membrane Nephropathy 42 62
Benign Familial Hematuria 42 62
Familial Benign Essential Hematuria 42
Familial Hematuric Nephritis 42
Benign Hereditary Nephritis 42
 
Benign Essential Hematuria 42
Hematuria, Benign Familial 46
Hematuria, Familial Benign 46
Hematuria Benign Familial 44
Tbmn 42


Classifications:

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


Related Diseases for Thin Basement Membrane Nephropathy

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



Diseases related to thin basement membrane nephropathy

Symptoms for Thin Basement Membrane Nephropathy

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Symptoms by clinical synopsis from OMIM:

141200

Clinical features from OMIM:

141200

HPO human phenotypes related to Thin Basement Membrane Nephropathy:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hematuria HP:0000790
3 nonprogressive disorder HP:0003680
4 thin glomerular basement membrane HP:0012577

Drugs & Therapeutics for Thin Basement Membrane Nephropathy

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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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MalaCards organs/tissues related to Thin Basement Membrane Nephropathy:

32
Kidney, Liver

Animal Models for Thin Basement Membrane Nephropathy or affiliated genes

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MGI Mouse Phenotypes related to Thin Basement Membrane Nephropathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053958.7COL4A2, COL4A3, COL4A1
2MP:00053858.3COL4A1, COL4A5, COL4A3, COL4A2
3MP:00053677.8CD79A, COL4A1, COL4A5, COL4A4, COL4A3
4MP:00107687.6COL4A2, COL4A3, COL4A4, COL4A5, COL4A1
5MP:00053766.8CD79A, FABP1, COL4A2, COL4A3, COL4A4, COL4A5

Publications for Thin Basement Membrane Nephropathy

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Articles related to Thin Basement Membrane Nephropathy:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Morphological diagnosis of Alport syndrome and thin basement membrane nephropathy by low vacuum scanning electron microscopy. (25355442)
2014
2
Consider thin basement membrane nephropathy as a possible cause of asymptomatic microscopic hematuria. (25369618)
2014
3
X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure. (24470729)
2013
4
Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. (23349312)
2013
5
Proteomic analysis of urinary exosomes from patients of early IgA nephropathy and thin basement membrane nephropathy. (21595033)
2011
6
Thin basement membrane nephropathy: is there genetic predisposition to more severe disease? (19018577)
2009
7
COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century. (18439107)
2008
8
Spectrum of collagen type IV nephropathies: from thin basement membrane nephropathy to Alport syndrome. (20804103)
2008
9
Incidence of thin basement membrane nephropathy in 990 consecutive renal biopsies examined with electron microscopy. (19117263)
2008
10
Internal carotid artery dissection, cerebral aneurysms and thin basement membrane nephropathy. (19159060)
2008
11
The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy. (18726620)
2008
12
Alport syndrome and thin basement membrane nephropathy. (17570934)
2007
13
Thin basement membrane nephropathy and IgA glomerulonephritis: can they be distinguished without renal biopsy? (17803472)
2007
14
A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy. (17726307)
2007
15
COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy. (17942953)
2007
16
Thin basement membrane nephropathy associated with minimal change disease in a 15-year-old boy. (16362391)
2006
17
Thin basement membrane nephropathy: diffuse and segmental types. (17090197)
2006
18
Chronic renal failure and shortened lifespan in COL4A3+/- mice: an animal model for thin basement membrane nephropathy. (16775036)
2006
19
Thin basement membrane nephropathy. (16467446)
2006
20
Persistent familial hematuria in children and the locus for thin basement membrane nephropathy. (16235097)
2005
21
Thin basement membrane nephropathy and renal transplantation. (15880331)
2005
22
Thin basement membrane nephropathy associated with other glomerular diseases. (15880329)
2005
23
The epidemiology of thin basement membrane nephropathy. (15880322)
2005
24
The nongenetic diagnosis of thin basement membrane nephropathy. (15880326)
2005
25
The risks of thin basement membrane nephropathy. (15880328)
2005
26
Thin basement membrane nephropathy in pregnancy. (15880330)
2005
27
The genetics of thin basement membrane nephropathy. (15880327)
2005
28
Pathology of thin basement membrane nephropathy. (15880325)
2005
29
The clinical features of thin basement membrane nephropathy. (15880323)
2005
30
Hematuria in thin basement membrane nephropathy. (15880324)
2005
31
Thin basement membrane nephropathy and coincidental renal biopsy lesions. (15056261)
2004
32
Signs and symptoms of thin basement membrane nephropathy: a prospective regional study on primary glomerular disease-The Limburg Renal Registry. (15327380)
2004
33
Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. (15021198)
2004
34
Differential diagnosis between X-linked Alport syndrome and thin basement membrane nephropathy. (15327434)
2004
35
COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN). (14871398)
2004
36
Alport syndrome and thin basement membrane nephropathy: unraveling the tangled strands of type IV collagen. (14871434)
2004
37
Thin basement membrane nephropathy. (12969134)
2003
38
Alport Syndrome and Thin Basement Membrane Nephropathy: Diseases Arising from Mutations in Type IV Collagen. (17657099)
2003
39
Thin basement membrane nephropathy: a mutation in COL4A5 gene]. (11798584)
2001
40
Pediatric hematuria and thin basement membrane nephropathy: what is it and what does it mean? (11758961)
2001
41
Approach to the diagnosis of thin basement membrane nephropathy in females with the use of antibodies to type IV collagen. (11300933)
2001
42
X-linked thin basement membrane nephropathy was linked with COL4A5 gene]. (11798821)
2000
43
Association of thin basement membrane nephropathy with hypercalciuria, hyperuricosuria and nephrolithiasis. (9734616)
1998
44
Thin basement membrane nephropathy: a report of two cases. (8087726)
1994
45
Alport Syndrome and Thin Basement Membrane Nephropathy (20301386)
1993
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

Variations for Thin Basement Membrane Nephropathy

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

64
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

Clinvar genetic disease variations for Thin Basement Membrane Nephropathy:

6
id Gene Name Type Significance SNP ID Assembly Location
1COL4A4NM_000092.4(COL4A4): c.2690G> A (p.Gly897Glu)single nucleotide variantPathogenicrs121912860GRCh37Chr 2, 227920687: 227920687
2COL4A4COL4A4, 1-BP INS, 3222AinsertionPathogenic
3COL4A4COL4A4, GLY960ARGundetermined variantPathogenic
4NM_000091.4(COL4A3): c.3044G> A (p.Gly1015Glu)single nucleotide variantPathogenicrs121912826GRCh37Chr 2, 228154778: 228154778
5NM_000091.4(COL4A3): c.2954G> T (p.Gly985Val)single nucleotide variantPathogenicrs121912827GRCh37Chr 2, 228153938: 228153938

Expression for genes affiliated with Thin Basement Membrane Nephropathy

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Expression patterns in normal tissues for genes affiliated with Thin Basement Membrane Nephropathy

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Pathways for genes affiliated with Thin Basement Membrane Nephropathy

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

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1COL4A1, COL4A2
28.3COL4A1, COL4A4, COL4A3, COL4A2
3
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
7.9COL4A2, COL4A3, COL4A4, COL4A5, COL4A1
47.9COL4A2, COL4A3, COL4A4, COL4A5, COL4A1
5
Show member pathways
7.9COL4A2, COL4A3, COL4A4, COL4A5, COL4A1
6
Show member pathways
7.9COL4A2, COL4A3, COL4A4, COL4A5, COL4A1
7
Show member pathways
7.9COL4A2, COL4A3, COL4A4, COL4A5, COL4A1
8
Show member pathways
7.9COL4A2, COL4A3, COL4A4, COL4A5, COL4A1
9
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
7.9COL4A2, COL4A3, COL4A4, COL4A5, COL4A1
107.9COL4A2, COL4A3, COL4A4, COL4A5, COL4A1
117.9COL4A5, COL4A4, COL4A3, COL4A2, COL4A1
12
Show member pathways
7.9COL4A2, COL4A3, COL4A4, COL4A5, COL4A1
137.9COL4A2, COL4A3, COL4A4, COL4A5, COL4A1
147.9COL4A2, COL4A3, COL4A4, COL4A5, COL4A1
15
Show member pathways
7.9COL4A2, COL4A3, COL4A4, COL4A5, COL4A1
167.9COL4A1, COL4A5, COL4A4, COL4A3, COL4A2
17
Show member pathways
7.9COL4A1, COL4A5, COL4A4, COL4A3, COL4A2
18
Show member pathways
7.9COL4A1, COL4A5, COL4A4, COL4A3, COL4A2
197.9COL4A1, COL4A5, COL4A4, COL4A3, COL4A2
207.9COL4A1, COL4A5, COL4A4, COL4A3, COL4A2
21
Show member pathways
7.9COL4A1, COL4A5, COL4A4, COL4A3, COL4A2
22
Show member pathways
7.3COL4A2, COL4A3, COL4A4, COL4A5, COL4A1, CD79A

Compounds for genes affiliated with Thin Basement Membrane Nephropathy

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Sources:
44Novoseek
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Compounds related to Thin Basement Membrane Nephropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1carnitine449.3CD79A, FABP1
2arresten448.7COL4A1, COL4A3, COL4A2
3vegf448.1CD79A, COL4A3, COL4A2, FABP1

GO Terms for genes affiliated with Thin Basement Membrane Nephropathy

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

idNameGO IDScoreTop Affiliating Genes
1basal laminaGO:0056059.5COL4A5, COL4A4
2extracellular matrixGO:0310129.1COL4A1, COL4A2
3basement membraneGO:0056049.0COL4A1, COL4A3
4collagen type IVGO:0055878.0COL4A1, COL4A5, COL4A4, COL4A3, COL4A2
5endoplasmic reticulum lumenGO:0057888.0COL4A2, COL4A3, COL4A4, COL4A5, COL4A1
6extracellular regionGO:0055767.9COL4A2, COL4A3, COL4A4, COL4A5, COL4A1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:0328369.6COL4A4, COL4A3
2negative regulation of angiogenesisGO:0165259.6COL4A3, COL4A2
3neuromuscular junction developmentGO:0075288.9COL4A1, COL4A5
4collagen catabolic processGO:0305748.0COL4A1, COL4A5, COL4A4, COL4A3, COL4A2
5extracellular matrix disassemblyGO:0226178.0COL4A2, COL4A3, COL4A4, COL4A5, COL4A1
6extracellular matrix organizationGO:0301988.0COL4A2, COL4A3, COL4A4, COL4A5, COL4A1
7axon guidanceGO:0074117.9COL4A2, COL4A3, COL4A4, COL4A5, COL4A1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052017.9COL4A1, COL4A5, COL4A4, COL4A3, 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet