FSGS
MCID: FCL005
MIFTS: 64

Focal Segmental Glomerulosclerosis (FSGS) malady

Nephrological, Genetic categories

Summaries for Focal Segmental Glomerulosclerosis

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 nephrosis and membranous glomerulonephritis. An important gene associated with Focal Segmental Glomerulosclerosis is ACTN4 (actinin, alpha 4), and among its related pathways are Anchoring fibril formation and Nephrin interactions. The drug cyclosporine and the compounds steroid and puromycin aminonucleoside have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and lung, and related mouse phenotypes are vision/eye and cardiovascular system.

Wikipedia:64 Focal segmental glomerulosclerosis (FSGS) is a cause of nephrotic syndrome in children and adolescents,... more...

Description from OMIM:47 603278, 612551, 613237, 607832, 603965 600995, 614131, 614196, 610725, 256370 more

Aliases & Classifications for Focal Segmental Glomerulosclerosis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 61UMLS, 47OMIM, 45Novoseek, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49

Aliases & Descriptions:

focal segmental glomerulosclerosis 8 43 20 22 10
focal segmental glomerulosclerosis 1 43 20 22
fsgs 8 43
familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis 49
familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 49
glomerulosclerosis, focal segmental, 1 47
glomerulosclerosis, focal segmental 45
focal sclerosis with hyalinosis 43
segmental glomerulosclerosis 61
glomerulosclerosis, focal 43
glomerulosclerosis focal 45
focal glomerulosclerosis 61
glomerulosclerosis 61
fsgs1 43


External Ids:

Disease Ontology8 DOID:1312
ICD10 via Orphanet26 N04.1

Related Diseases for Focal Segmental Glomerulosclerosis

Sources:
17GeneCards, 18GeneDecks
See all sources

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 159)
idRelated DiseaseScoreTop Affiliating Genes
1nephrosis31.0NPHS2, ACTN4, LAMB2, NPHS1
2membranous glomerulonephritis30.7NPHS1, NPHS2, CD2AP
3thin basement membrane nephropathy30.5COL4A3, COL4A4
4wilms tumor30.5CDKN1C, SYNPO, WT1, ACTN4, CD2AP, PTPRO
5lipoid nephrosis30.3NPHS2, NPHS1, CD2AP
6frasier syndrome30.3WT1
7nephritis30.3NPHS2, COL4A4, COL4A3, NPHS1
8diabetic nephropathy30.3NPHS2, NPHS1, SYNPO
9denys-drash syndrome29.9WT1, PAX2
10focal glomerulosclerosis11.6
11n syndrome11.0
12focal segmental glomerulosclerosis 310.6
13focal segmental glomerulosclerosis 210.6
14focal segmental glomerulosclerosis 510.6
15hepatitis c10.5
16kid syndrome10.5
17membranoproliferative glomerulonephritis10.4
18polycythemia vera10.4
19nephrotic syndrome, type 110.4
20renovascular hypertension10.4
21pulmonary sarcoidosis10.4
22arteriolosclerosis10.4
23churg-strauss syndrome10.4
24acute leukemia10.4
25hepatitis a10.4
26steroid-resistant nephrotic syndrome10.4
27guillain-barr� syndrome10.4
28coenzyme q10 deficiency, primary, 610.4
29glomerulosclerosis, focal segmental, 410.4
30polycystic kidney disease10.2
31berger disease10.2
32renal agenesis10.2
33unilateral renal agenesis10.2
34graft versus host disease10.2
35crescentic glomerulonephritis10.2
36marfan syndrome10.2
37kimura disease10.2
38neurofibromatosis10.2
39wagr syndrome10.2
40desquamative interstitial pneumonia10.2
41antiphospholipid syndrome10.2
42familial nephrotic syndrome10.2
43noonan syndrome10.2
44primary biliary cirrhosis10.2
45hypoparathyroidism10.2
46familial partial lipodystrophy10.2
47gitelman syndrome10.2
48systemic lupus erythematosus10.2
49wegener's granulomatosis10.2
50panhypopituitarism10.2

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



Diseases related to focal segmental glomerulosclerosis

Clinical Features for Focal Segmental Glomerulosclerosis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

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

Drugs & Therapeutics for Focal Segmental Glomerulosclerosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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 UMLS61/NDF-RT41:

Genetic Tests for Focal Segmental Glomerulosclerosis

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis:

33
Liver, Kidney, Lung, Bone marrow, Thymus, Myeloid, B cells, Endothelial

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

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

Publications for Focal Segmental Glomerulosclerosis

Sources:
51PubMed
See all sources

Articles related to Focal Segmental Glomerulosclerosis:

(show top 50)    (show all 575)
idTitleAuthorsYear
1
Mutational analysis of ACTN4, encoding I+-actinin 4, in patients with focal segmental glomerulosclerosis using HRM method. (23890478)
2013
2
Impact of the National Institutes of Health Focal Segmental Glomerulosclerosis (NIH FSGS) clinical trial on the treatment of steroid-resistant FSGS. (23248028)
2013
3
Treatment of idiopathic focal segmental glomerulosclerosis: options in the event of resistance to corticosteroids and calcineurin inhibitors. (23897176)
2013
4
Focal segmental glomerulosclerosis in children: multivariate analysis indicates that donor type does not alter recurrence risk. (23912170)
2013
5
A multicolor podocyte reporter highlights heterogeneous podocyte changes in focal segmental glomerulosclerosis. (24284512)
2013
6
Podocyte Wnt/A9-catenin pathway is activated by integrin-linked kinase in clinical and experimental focal segmental glomerulosclerosis. (21928230)
2012
7
Urine neutrophil gelatinase-associated lipocalin and kidney injury in children with focal segmental glomerulosclerosis. (22976261)
2012
8
Collapsing focal segmental glomerulosclerosis in a young child. (23128477)
2012
9
Treatment of recurrent focal segmental glomerulosclerosis in pediatric kidney transplant recipients: effect of rituximab. (21577271)
2011
10
High cut-off haemodialysis induces remission of recurrent idiopathic focal segmental glomerulosclerosis after renal transplantation but is no alternative to plasmapheresis. (21969845)
2011
11
Coincident idiopathic focal segmental glomerulosclerosis collapsing variant and diabetic nephropathy in an African American homozygous for MYH9 risk variants. (21074826)
2011
12
Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. (21258034)
2011
13
Focal segmental glomerulosclerosis and partial deletion of chromosome 6p: a case report. (21722607)
2011
14
An unusual association of primary focal and segmental glomerulosclerosis, distal renal tubular acidosis and secondary erythrocytosis. (21912041)
2011
15
Clinical trials treating focal segmental glomerulosclerosis should measure patient quality of life. (21178977)
2011
16
Clinical course of primary focal segmental glomerulosclerosis (FSGS) in Turkish children: a report from the Turkish Pediatric Nephrology FSGS Study Group. (20718182)
2010
17
An unusual cause of focal segmental glomerulosclerosis: psoriasis vulgaris. (20486850)
2010
18
The predictive role of histopathological findings in renal insufficiency and complete remission in a sample of Iranian adults with primary focal segmental glomerulosclerosis. (21526053)
2010
19
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. (19812541)
2009
20
CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). (19131354)
2009
21
Rituximab in minimal change nephropathy and focal segmental glomerulosclerosis: report of four cases and review of the literature. (19011266)
2008
22
Mycophenolate mofetil or standard therapy for membranous nephropathy and focal segmental glomerulosclerosis: a pilot study. (17989103)
2008
23
MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. (18794856)
2008
24
Focal segmental glomerulosclerosis--epidemiology aspects in children and adults. (17151873)
2007
25
Focal segmental glomerulosclerosis associated with long-term treatment with zoledronate in a myeloma patient. (17526544)
2007
26
Association of steroid and cyclosporin resistance in focal segmental glomerulosclerosis. (17294224)
2007
27
Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis. (17699384)
2007
28
A cutaneous disease with multisystem involvement: hypomelanosis of Ito may be associated with proteinuria, focal segmental glomerulosclerosis and end-stage renal disease. (17347282)
2007
29
Podocin-related mechanisms in posttransplant [corrected] recurrence of focal segmental glomerulosclerosis [corrected]. (17175312)
2006
30
Immunosuppressive treatment of idiopathic focal segmental glomerulosclerosis: a five-year follow-up study. (16785738)
2006
31
The bioactivity of plasma factors in focal segmental glomerulosclerosis. (16707909)
2006
32
Expression of synaptopodin and GLEPP1 as markers of steroid responsiveness in primary focal segmental glomerulosclerosis. (16564554)
2006
33
Methylprednisolone treatment in children with nephrotic primary focal segmental glomerulosclerosis. (17214070)
2006
34
Bigenic mouse models of focal segmental glomerulosclerosis involving pairwise interaction of CD2AP, Fyn, and synaptopodin. (16628251)
2006
35
Recurrence of proteinuria 10 years post-transplant in NPHS2-associated focal segmental glomerulosclerosis after conversion from cyclosporin A to sirolimus. (16721582)
2006
36
Early steroid withdrawal does not increase risk for recurrent focal segmental glomerulosclerosis. (15848542)
2005
37
Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis. (15627790)
2005
38
Combination of immunosuppressive agents in treatment of steroid-resistant minimal change disease and primary focal segmental glomerulosclerosis. (16152989)
2005
39
Cyclophosphamide in the treatment of focal segmental glomerulosclerosis. (15334202)
2004
40
Mycophenolate mofetil in the treatment of focal segmental glomerulosclerosis. (15630898)
2004
41
Cardiac disease in children with primary glomerular disorders-role of focal segmental glomerulosclerosis. (14872333)
2004
42
Aristolochic acid nephropathy complicating a patient with focal segmental glomerulosclerosis. (15199198)
2004
43
Microarray analysis of focal segmental glomerulosclerosis. (15308877)
2004
44
Is the simian virus SV40 associated with idiopathic focal segmental glomerulosclerosis in humans? (12832733)
2003
45
Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis. (14598342)
2003
46
Activated intrarenal transcription of CTL-effectors and TGF-beta1 in children with focal segmental glomerulosclerosis. (11786088)
2002
47
Renovascular hypertension and focal segmental glomerulosclerosis in the contralateral kidney. (11317195)
2001
48
Genetic polymorphism in paraoxonase is a risk factor for childhood focal segmental glomerulosclerosis. (11096050)
2000
49
Inefficacy and toxicity of pefloxacin in focal and segmental glomerulosclerosis with steroid-resistant nephrotic syndrome. (8099164)
1993
50
Wilms' tumor and glomerular disease. Occurrence with features of membranoproliferative glomerulonephritis and secondary focal, segmental glomerulosclerosis. (6320757)
1984

Genetic Variations for Focal Segmental Glomerulosclerosis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Focal Segmental Glomerulosclerosis:

63
id Symbol AA change Variation SNP ID
1ACTN4p.Lys255GluVAR_010378rs28939374
2ACTN4p.Thr259IleVAR_010379rs28939375
3ACTN4p.Ser262ProVAR_010380rs28939376

Expression for genes affiliated with Focal Segmental Glomerulosclerosis

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

Sources:
54Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 52QIAGEN
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Pathways related to Focal Segmental Glomerulosclerosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4COL4A3, COL4A4
210.4ACTN4, CD2AP, NPHS2, NPHS1
3
Hide members
10.4ACTN4, CD2AP, NPHS2, NPHS1
410.4NPHS1, NPHS2, TRPC6, CD2AP
5
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
Hide members
10.4COL4A4, COL4A3, ACTN4
610.3LAMB2, COL4A3, COL4A4
7
Hide members
10.3PTPRO, ACTN4, PLCE1, MYO1E, TFAM
810.3COL4A4, COL4A3, ACTN4, LAMB2
9
Hide members
10.3COL4A4, COL4A3, ACTN4, LAMB2
10
Hide members
10.2COL4A4, COL4A3, TFAM, MYO1E, PLCE1, ACTN4

Compounds for genes affiliated with Focal Segmental Glomerulosclerosis

Sources:
45Novoseek
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Compounds related to Focal Segmental Glomerulosclerosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1steroid4510.3PTPRO, CD2AP, SYNPO, NPHS2, NPHS1, WT1
2puromycin aminonucleoside4510.1CD2AP, NPHS2, NPHS1

GO Terms for genes affiliated with Focal Segmental Glomerulosclerosis

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1basal laminaGO:00560510.4LAMB2, COL4A4
2slit diaphragmGO:03605710.3TRPC6, NPHS2, NPHS1
3collagen type IVGO:00558710.1COL4A3, COL4A4

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1glomerulus developmentGO:03283510.6WT1, PLCE1, PTPRO
2metanephric glomerular visceral epithelial cell developmentGO:07224910.6LAMB2, NPHS2
3glomerular basement membrane developmentGO:03283610.5MYO1E, NPHS1, WT1, COL4A3, COL4A4
4metanephric epithelium developmentGO:07220710.5PAX2, WT1
5glomerular visceral epithelial cell differentiationGO:07211210.4WT1, PTPRO
6axon guidanceGO:00741110.4COL4A4, COL4A3, TRPC6, LAMB2, PTPRO
7metanephric mesenchyme developmentGO:07207510.4PAX2, WT1
8glomerular visceral epithelial cell developmentGO:07201510.3NPHS1, MYO1E
9mesenchymal to epithelial transitionGO:06023110.1PAX2, WT1

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

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