FSGS
MCID: FCL005
MIFTS: 70

Focal Segmental Glomerulosclerosis (FSGS) malady

Nephrological diseases, Genetic diseases categories

Summaries for Focal Segmental Glomerulosclerosis

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Focal segmental glomerulosclerosis (fsgs) is a type of kidney disorder. it is characterized by scar tissue that forms in some of the glomeruli in the kidney. fsgs may cause non-specific signs and symptoms, including protein in the urine, elevated levels of creatinine, and swelling. in many cases the cause of fsgs can not be determined. some cases are thought to be associated with congenital kidney defects, urine backing up into the kidneys, obesity, obstructive sleep apnea, sickle cell anemia, or viruses (e.g., hiv).  the goal of treatment is to control symptoms and prevent chronic kidney failure. even with treatment, many people with fsgs progress to kidney failure within 5 to 20 years. last updated: 8/16/2011

MalaCards: Focal Segmental Glomerulosclerosis, also known as focal segmental glomerulosclerosis 1, is related to nephrotic syndrome and proteinuria. An important gene associated with Focal Segmental Glomerulosclerosis is ACTN4 (actinin, alpha 4), and among its related pathways are Nephrin interactions and Cell-cell junction organization. The drug cyclosporine and the compounds steroid and puromycin aminonucleoside have been mentioned in the context of this disorder. Affiliated tissues include kidney, endothelial and bone marrow, and related mouse phenotypes are vision/eye and renal/urinary system.

Wikipedia:63 Focal segmental glomerulosclerosis (FSGS) is a cause of nephrotic syndrome in children and adolescents,... more...

Description from OMIM:46 603278, 612551, 613237, 607832, 603965 600995, 614131, 614196, 615573, 610725, 256370 more

Aliases & Classifications for Focal Segmental Glomerulosclerosis

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 60UMLS, 46OMIM, 44Novoseek, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48

Aliases & Descriptions:

focal segmental glomerulosclerosis 8 42 20 22 10
focal segmental glomerulosclerosis 1 42 20 22
fsgs 8 42
familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis 48
familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 48
glomerulosclerosis, focal segmental, 1 46
glomerulosclerosis, focal segmental 44
focal sclerosis with hyalinosis 42
segmental glomerulosclerosis 60
glomerulosclerosis, focal 42
glomerulosclerosis focal 44
focal glomerulosclerosis 60
glomerulosclerosis 60
fsgs1 42


External Ids:

Disease Ontology8 DOID:1312
ICD10 via Orphanet26 N04.1

Related Diseases for Focal Segmental Glomerulosclerosis

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17GeneCards, 18GeneDecks
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Diseases in the Focal Segmental Glomerulosclerosis family:

Focal Segmental Glomerulosclerosis 3 Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 2 Glomerulosclerosis, Focal Segmental, 6
Glomerulosclerosis, Focal Segmental, 4

Diseases related to Focal Segmental Glomerulosclerosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 157)
idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome31.4CD2AP, TRPC6, SYNPO, NPHS2, NPHS1, WT1
2proteinuria31.2PTPRO, PAX2, ACTN4, CD2AP, TRPC6, SYNPO
3glomerulonephritis30.9COL4A3, NPHS1, NPHS2, SYNPO, CD2AP, ACTN4
4membranous glomerulonephritis30.7NPHS1, NPHS2, CD2AP
5lipoid nephrosis30.2CD2AP, NPHS2, NPHS1
6frasier syndrome30.2WT1
7diabetic nephropathy30.2SYNPO, NPHS2, NPHS1
8iga glomerulonephritis30.0NPHS1, NPHS2, CD2AP
9denys-drash syndrome29.9WT1, PAX2
10nephroblastoma29.7WT1, NPHS1, CDKN1C, PAX2
11focal glomerulosclerosis11.6
12hepatitis10.6
13kidney disease10.6
14focal segmental glomerulosclerosis 310.6
15focal segmental glomerulosclerosis 510.6
16focal segmental glomerulosclerosis 210.6
17obesity10.5
18hepatitis b10.5
19leukemia10.5
20polycythemia10.5
21membranoproliferative glomerulonephritis10.4
22polycythemia vera10.4
23hepatitis c10.4
24hepatitis a10.4
25hypertension10.4
26myeloma10.4
27nephrotic syndrome, type 110.4
28renovascular hypertension10.3
29pulmonary sarcoidosis10.3
30arteriolosclerosis10.3
31churg-strauss syndrome10.3
32acute leukemia10.3
33hypothyroidism10.3
34sarcoidosis10.3
35coenzyme q10 deficiency, primary, 610.3
36glomerulosclerosis, focal segmental, 410.3
37polycystic kidney disease10.2
38renal agenesis10.2
39graft versus host disease10.2
40crescentic glomerulonephritis10.2
41marfan syndrome10.2
42kimura disease10.2
43neurofibromatosis10.2
44wagr syndrome10.2
45desquamative interstitial pneumonia10.2
46antiphospholipid syndrome10.2
47familial nephrotic syndrome10.2
48noonan syndrome10.2
49primary biliary cirrhosis10.2
50hypoparathyroidism10.2

Graphical network of the top 20 diseases related to Focal Segmental Glomerulosclerosis:



Diseases related to focal segmental glomerulosclerosis

Clinical Features for Focal Segmental Glomerulosclerosis

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46OMIM
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Clinical features from OMIM:

603278, 612551, 613237, 607832, 603965, 600995, 614131, 614196, 615573, 610725 256370 more

Drugs & Therapeutics for Focal Segmental Glomerulosclerosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Focal Segmental Glomerulosclerosis

Drug clinical trials:

Search ClinicalTrials for Focal Segmental Glomerulosclerosis

Search NIH Clinical Center for Focal Segmental Glomerulosclerosis

Search CenterWatch for Focal Segmental Glomerulosclerosis

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Focal Segmental Glomerulosclerosis

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20GeneTests, 22GTR
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Genetic tests related to Focal Segmental Glomerulosclerosis:

id Genetic test Affiliating Genes
1 Focal Segmental Glomerulosclerosis20 22 TRPC6
2 Focal Segmental Glomerulosclerosis 120 22 ACTN4

Anatomical Context for Focal Segmental Glomerulosclerosis

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis:

32
Kidney, Endothelial, Bone marrow, Bone, Eye, Thymus, Liver, Lung, Myeloid

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Focal Segmental Glomerulosclerosis:
id TissueAnatomical CompartmentCell Relevance
1 KidneyPodocyte LayerPodocytes Potential therapeutic candidate, affected by disease

Animal Models for Focal Segmental Glomerulosclerosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Focal Segmental Glomerulosclerosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539110.2LAMB2, PAX2, CDKN1C, TRPC6, TFAM, COL4A3
2MP:000536710.2PTPRO, COL4A3, WT1, NPHS1, NPHS2, SYNPO
3MP:000538510.2TRPC6, TFAM, NPHS2, WT1, COL4A3, MYO1E
4MP:000537610.1COL4A3, WT1, NPHS1, NPHS2, TFAM, MYO1E
5MP:001076810.0NPHS2, NPHS1, WT1, COL4A3, TFAM, MYO1E
6MP:000536910.0WT1, TFAM, TRPC6, MYO1E, CDKN1C, PLCE1

Publications for Focal Segmental Glomerulosclerosis

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50PubMed
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Articles related to Focal Segmental Glomerulosclerosis:

(show top 50)    (show all 574)
idTitleAuthorsYear
1
Response: Galactose treatment in focal segmental glomerulosclerosis. (24425596)
2014
2
Stabilization of hepatitis C associated collapsing focal segmental glomerulosclerosis with interferon alpha-2a and ribavirin. (22541681)
2013
3
Focal segmental glomerulosclerosis and kidney transplantation. (23880801)
2013
4
New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis. (23291369)
2013
5
Patient recruitment into a multicenter randomized clinical trial for kidney disease: report of the focal segmental glomerulosclerosis clinical trial (FSGS CT). (23399084)
2013
6
Rituximab in post-transplant pediatric recurrent focal segmental glomerulosclerosis. (23052653)
2013
7
Management of severe recurrent focal segmental glomerulosclerosis through circulating soluble urokinase receptor modification. (23466622)
2013
8
Focal segmental glomerulosclerosis: a diagnostic problem. (22535607)
2012
9
A case of focal segmental glomerulosclerosis in an adult patient with hypogammaglobulinemia superimposed on membranoproliferative glomerulonephritis in childhood. (22727088)
2012
10
New players in the pathogenesis of focal segmental glomerulosclerosis. (22767631)
2012
11
Nonfunction of the ECT2 gene may cause renal tubulointerstitial injury leading to focal segmental glomerulosclerosis. (22552385)
2012
12
Focal segmental glomerulosclerosis: a very unusual complication of allogeneic hematopoietic cell transplantation (HCT). (20856209)
2011
13
Preemptive plasmapheresis and recurrence of focal segmental glomerulosclerosis in pediatric renal transplantation. (21338460)
2011
14
A case of recurrent focal segmental glomerulosclerosis (FSGS) involving massive proteinuria (>50 g/day) immediately after renal transplantation. (21623916)
2011
15
Coincident chronic inflammatory demyelinating polyneuropathy and focal segmental glomerulosclerosis: a common autoimmunity? (20049621)
2010
16
Morphological features and prognostic significance of tip variant of focal segmental glomerulosclerosis: Study of an Indian cohort. (20551526)
2010
17
Treatment with IFN-{alpha}, -{beta}, or -{gamma} is associated with collapsing focal segmental glomerulosclerosis. (20203164)
2010
18
Effect of a triple blockade of the renin-angiotensin-system in recurrent focal segmental glomerulosclerosis after kidney transplantation. (19497068)
2009
19
Treatment of focal segmental glomerulosclerosis with immunophilin modulation: when did we stop thinking about pathogenesis? (19494796)
2009
20
Therapeutic targets in focal and segmental glomerulosclerosis. (18660675)
2008
21
Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis. (18443213)
2008
22
Ultrastructural features and expression of cytoskeleton proteins of podocyte from patients with minimal change disease and focal segmental glomerulosclerosis. (18569926)
2008
23
Galactose binds to focal segmental glomerulosclerosis permeability factor and inhibits its activity. (18514139)
2008
24
Nephrotic syndrome resulting from focal segmental glomerulosclerosis in a peripheral blood stem cell transplant patient. (17879218)
2007
25
A case report of plasmapheresis and cyclophosphamide for steroid-resistant focal segmental glomerulosclerosis: recovery of renal function after five months on dialysis. (17498006)
2007
26
Thrombotic microangiopathy as a complication in a patient with focal segmental glomerulosclerosis. (17882457)
2007
27
Computational simulation of renal biopsy accuracy in focal segmental glomerulosclerosis. (16773406)
2006
28
Reduced podocyte expression of alpha3beta1 integrins and podocyte depletion in patients with primary focal segmental glomerulosclerosis and chronic PAN-treated rats. (16887498)
2006
29
Hepatitis B infection as a possible cause of focal segmental glomerulosclerosis (FSGS). (16724663)
2006
30
Secondary focal segmental glomerulosclerosis following kidney transplantation in a patient with type I diabetes mellitus. (16848868)
2006
31
Reduced podocyte expression of alpha3beta1 integrins and podocyte depletion in patients with primary focal segmental glomerulosclerosis and chronic PAN-treated rats. (16459165)
2006
32
Intravenous pulse cyclophosphamide therapy in focal segmental glomerulosclerosis. (16429836)
2006
33
Increase in extracellular cross-linking by tissue transglutaminase and reduction in expression of MMP-9 contribute differentially to focal segmental glomerulosclerosis in rats. (16477388)
2006
34
TRPC6 - a new podocyte gene involved in focal segmental glomerulosclerosis. (16290061)
2005
35
Variants in the Wilms' tumor gene are associated with focal segmental glomerulosclerosis in the African American population. (15687485)
2005
36
Focal segmental glomerulosclerosis in kidney resected for renal cell carcinoma. (16142569)
2005
37
The morphological characteristics and expression of cell cycle regulatory proteins in cellular variants of idiopathic focal segmental glomerulosclerosis. (15100731)
2004
38
The parietal epithelial cell: a key player in the pathogenesis of focal segmental glomerulosclerosis in Thy-1.1 transgenic mice. (15034095)
2004
39
Racial and ethnic differences in the incidence and progression of focal segmental glomerulosclerosis in children. (14730545)
2004
40
A case of focal segmental glomerulosclerosis associated with aplastic anemia. (15608406)
2004
41
Ganoderma lucidum suppresses endothelial cell cytotoxicity and proteinuria in persistent proteinuric focal segmental glomerulosclerosis (FSGS) nephrosis. (15567896)
2004
42
Secondary focal segmental glomerulosclerosis in non-obese patients with increased muscle mass. (14579937)
2003
43
Efficacy of losartan in patients with primary focal segmental glomerulosclerosis resistant to immunosuppressive treatment. (12603500)
2003
44
Glomerular endothelial cytotoxicity and dysfunction in nephrosis with focal segmental glomerulosclerosis. (14724375)
2003
45
WT-1 and NPHS2 mutation analysis in patients with non-familial steroid-resistant focal-segmental glomerulosclerosis. (12608558)
2003
46
46,XY phenotypic male with focal segmental glomerulosclerosis caused by the WT1 splice site mutation. (14646409)
2003
47
Cyclosporine in the treatment of idiopathic focal segmental glomerulosclerosis. (12704584)
2003
48
The dysregulated podocyte phenotype: a novel concept in the pathogenesis of collapsing idiopathic focal segmental glomerulosclerosis and HIV-associated nephropathy. (9890309)
1999
49
Distribution of thrombomodulin in patients with focal and segmental glomerulosclerosis (FSGS). (7933663)
1994
50
Significance of renal hyaline arteriolosclerosis in focal segmental glomerulosclerosis. (3897888)
1985

Genetic Variations for Focal Segmental Glomerulosclerosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Focal Segmental Glomerulosclerosis:

62
id Symbol AA change Variation ID SNP ID
1ACTN4p.Lys255GluVAR_010378rs28939374
2ACTN4p.Thr259IleVAR_010379rs28939375
3ACTN4p.Ser262ProVAR_010380rs28939376

Expression for genes affiliated with Focal Segmental Glomerulosclerosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Focal Segmental Glomerulosclerosis

Search GEO for disease gene expression data for Focal Segmental Glomerulosclerosis.

Pathways for genes affiliated with Focal Segmental Glomerulosclerosis

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53Reactome, 29KEGG, 37NCBI BioSystems Database, 51QIAGEN
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Pathways related to Focal Segmental Glomerulosclerosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4ACTN4, CD2AP, NPHS2, NPHS1
2
Hide members
10.4ACTN4, CD2AP, NPHS2, NPHS1
310.4LAMB2, ACTN4, COL4A3
410.4NPHS1, NPHS2, TRPC6, CD2AP
5
Hide members
10.3TFAM, MYO1E, PLCE1, ACTN4, PTPRO
6
Hide members
10.3COL4A3, TFAM, MYO1E, PLCE1, ACTN4, LAMB2

Compounds for genes affiliated with Focal Segmental Glomerulosclerosis

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44Novoseek
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Compounds related to Focal Segmental Glomerulosclerosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1steroid4410.3PTPRO, CD2AP, SYNPO, NPHS2, NPHS1, WT1
2puromycin aminonucleoside4410.1CD2AP, NPHS2, NPHS1

GO Terms for genes affiliated with Focal Segmental Glomerulosclerosis

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16Gene Ontology
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Cellular components related to Focal Segmental Glomerulosclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1slit diaphragmGO:03605710.4TRPC6, NPHS2, NPHS1

Biological processes related to Focal Segmental Glomerulosclerosis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1glomerulus developmentGO:03283510.6WT1, PLCE1, PTPRO
2glomerular basement membrane developmentGO:03283610.6MYO1E, NPHS1, WT1, COL4A3
3metanephric glomerular visceral epithelial cell developmentGO:07224910.6LAMB2, NPHS2
4metanephric epithelium developmentGO:07220710.5PAX2, WT1
5glomerular visceral epithelial cell differentiationGO:07211210.5WT1, PTPRO
6glomerular visceral epithelial cell developmentGO:07201510.4NPHS1, MYO1E
7axon guidanceGO:00741110.3PTPRO, LAMB2, TRPC6, COL4A3
8mesenchymal to epithelial transitionGO:06023110.3PAX2, WT1
9metanephric mesenchyme developmentGO:07207510.1WT1, PAX2

Molecular functions related to Focal Segmental Glomerulosclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1C2H2 zinc finger domain bindingGO:07074210.4PAX2, WT1
2integrin bindingGO:00517810.1LAMB2, ACTN4, COL4A3
3protein bindingGO:0055159.9PTPRO, COL4A3, APOL1, WT1, NPHS1, NPHS2

Products for genes affiliated with Focal Segmental Glomerulosclerosis

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Sources for Focal Segmental Glomerulosclerosis

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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