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, 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, Bone marrow, Liver, Eye, Lung, Thymus, 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
Tacrolimus versus cyclophosphamide in steroid-dependent or steroid-resistant focal segmental glomerulosclerosis: a randomized controlled trial. (23343906)
2013
2
Early focal segmental glomerulosclerosis as a cause of renal allograft primary nonfunction. (23781382)
2013
3
Galactose treatment in focal segmental glomerulosclerosis. (24362723)
2013
4
Churg-Strauss syndrome presenting with focal segmental glomerulosclerosis without proteinuria: response to unconventional therapy. (23338924)
2013
5
Combination of pulse methylprednisolone infusions with cyclosporine-based immunosuppression is safe and effective to treat recurrent focal segmental glomerulosclerosis after pediatric kidney transplantation. (23383697)
2013
6
Treatment and prognosis of primary focal segmental glomerulosclerosis. (23689573)
2013
7
Focal segmental glomerulosclerosis in association with neurofibromatosis type 1: a case report and proposed molecular pathways. (23805377)
2013
8
Human umbilical mesenchymal stem cells attenuate the progression of focal segmental glomerulosclerosis. (23514668)
2013
9
Focal segmental glomerulosclerosis is associated with a PDSS2 haplotype and, independently, with a decreased content of coenzyme Q10. (23926186)
2013
10
INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis. (23521651)
2013
11
Histological heterogeneity of glomerular segmental lesions in focal segmental glomerulosclerosis. (21424374)
2012
12
Immunosuppressive treatment in primary focal segmental glomerulosclerosis. (22344540)
2012
13
Pretransplantation combined therapy with plasmapheresis and rituximab in a second living-related kidney transplant pediatric recipient with a very high risk for focal segmental glomerulosclerosis recurrence. (22129369)
2012
14
Immunosuppressive treatment of focal segmental glomerulosclerosis: lessons from a randomized controlled trial. (21960168)
2011
15
MYO1E, focal segmental glomerulosclerosis, and the cytoskeleton. (21751899)
2011
16
Focal segmental glomerulosclerosis associated with invasive thymoma. (21426517)
2011
17
Protocol biopsies for focal segmental glomerulosclerosis treated with plasma exchange and rituximab in a renal transplant patient. (20590697)
2010
18
Idiopathic focal segmental glomerulosclerosis. (19736363)
2010
19
A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis. (20127383)
2010
20
Treatment of focal segmental glomerulosclerosis. (20075961)
2010
21
Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis. (18830715)
2009
22
Massive proteinuria and acute renal failure after oral bisphosphonate (alendronate) administration in a patient with focal segmental glomerulosclerosis. (18754075)
2009
23
Complete remission of nephrotic syndrome in an infant with focal segmental glomerulosclerosis: is it renin-angiotensin blockade? (18853198)
2009
24
Expression of JAKs/STATs pathway molecules in rat model of rapid focal segmental glomerulosclerosis. (19350281)
2009
25
Relapsing Guillain BarrAc Syndrome and nephrotic syndrome secondary to focal segmental glomerulosclerosis. (18325535)
2008
26
Genetics of focal segmental glomerulosclerosis. (17347836)
2007
27
High sirolimus levels may induce focal segmental glomerulosclerosis de novo. (17699432)
2007
28
Focal segmental glomerulosclerosis: a case study with review of pathophysiology. (17486948)
2007
29
Collapsing focal segmental glomerulosclerosis as a possible complication of valproic acid. (17694604)
2007
30
NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis. (16874699)
2006
31
Clinical and pathologic characteristics of focal segmental glomerulosclerosis pathologic variants. (16518352)
2006
32
Angiotensin converting enzyme inhibition prevents development of collapsing focal segmental glomerulosclerosis in Thy-1.1 transgenic mice. (16968721)
2006
33
Renovascular hypertension: a unique cause of unilateral focal segmental glomerulosclerosis. (16755156)
2006
34
Life-threatening thrombocytopenia and nephrotic syndrome due to focal segmental glomerulosclerosis associated with pegylated interferon alpha-2b and ribavirin treatment for hepatitis C. (17105597)
2006
35
Hepatitis B complicated focal segmental glomerulosclerosis. (16245249)
2005
36
Pulse cyclophosphamide therapy for steroid-resistant focal segmental glomerulosclerosis in children. (15310010)
2004
37
Nephrotic focal segmental glomerulosclerosis in 2004: an update. (15280528)
2004
38
A male patient with steroid-dependent nephrotic syndrome for 25 years and obesity-associated focal segmental glomerulosclerosis. (15480905)
2004
39
Focal segmental glomerulosclerosis]. (15500127)
2004
40
Chronic lymphocytic leukemia-associated nephrotic syndrome caused by focal segmental glomerulosclerosis. (15389914)
2004
41
A combined low-density lipoprotein apheresis and prednisone therapy for steroid-resistant primary focal segmental glomerulosclerosis in children. (14655182)
2003
42
Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood. (12787432)
2003
43
Analysis of mutations in alpha-actinin 4 and podocin genes of patients with chronic renal failure due to sporadic focal segmental glomerulosclerosis. (12617336)
2003
44
Progression of chronic renal failure in focal segmental glomerulosclerosis: consequence of podocyte damage or of tubulointerstitial fibrosis? (12879860)
2003
45
Methylenetetrahydrofolate reductase polymorphism in childhood primary focal segmental glomerulosclerosis. (12218328)
2002
46
Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. (10368108)
1999
47
Mesangial proliferative nephrosis with superimposed focal segmental glomerulosclerosis versus idiopathic nephrosis with focal segmental glomerulosclerosis. (10575301)
1999
48
Mitochondrial encephalomyopathies preceded by de-Toni-DebrAc-Fanconi syndrome or focal segmental glomerulosclerosis. (8953126)
1996
49
A patient with focal segmental glomerulosclerosis and acute renal failure due to crescentic membranoproliferative glomerulonephritis. (2020354)
1991
50
Renal hyaline arteriolosclerosis in focal segmental glomerulosclerosis. (3736745)
1986

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
110.4NPHS2, CD2AP, ACTN4, NPHS1
2
Hide members
10.4NPHS2, ACTN4, CD2AP, NPHS1
310.4ACTN4, LAMB2, COL4A3
410.4NPHS1, NPHS2, TRPC6, CD2AP
5
Hide members
10.3TFAM, MYO1E, ACTN4, PTPRO, PLCE1
6
Hide members
10.3LAMB2, COL4A3, TFAM, MYO1E, PLCE1, ACTN4

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