FGS
MCID: FCL005
MIFTS: 72

Focal Segmental Glomerulosclerosis (FGS) malady

Genetic diseases, Rare diseases, Nephrological diseases, Neuronal diseases, Mental diseases, Cancer diseases categories

Summaries for Focal Segmental Glomerulosclerosis

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Fg syndrome (fgs) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "fg" represents the surname initials of the first individuals diagnosed with the disorder. people with fgs frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes, a large head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. researchers have identified five regions of the x chromosome that are linked to fgs in affected families. the condition is called fgs1 when it is caused by a change (mutation) in a gene called med12. fgs2 is caused by mutations in the flna gene. the genes responsible for fgs3, fgs4, and fgs5 remain unknown. fgs is inherited in an x-linked recessive pattern. last updated: 1/11/2010

MalaCards: Focal Segmental Glomerulosclerosis, also known as opitz-kaveggia syndrome, is related to glomerulosclerosis and nephrotic syndrome. An important gene associated with Focal Segmental Glomerulosclerosis is ACTN4 (actinin, alpha 4), and among its related pathways are Nephrin interactions and Cell junction organization. The drug cyclosporine and the compounds puromycin aminonucleoside and creatinine have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and endothelial, and related mouse phenotypes are muscle and cardiovascular system.

Genetics Home Reference:22 FG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder.

Wikipedia:66 Focal segmental glomerulosclerosis (FSGS) is a cause of nephrotic syndrome in children and adolescents,... more...

Description from OMIM:48 603278, 613237, 607832, 603965, 612551 300321, 300422, 305450 more

Aliases & Classifications for Focal Segmental Glomerulosclerosis

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9Disease Ontology, 10diseasecard, 66Wikipedia, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 41NCIt, 59SNOMED-CT, 36MeSH, 27ICD10 via Orphanet
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Classifications:



Aliases & Descriptions:

focal segmental glomerulosclerosis 9 44 21 23 11
opitz-kaveggia syndrome 9 10 44 22 48 50
fg syndrome 9 66 44 23 22 11
focal segmental glomerulosclerosis 1 44 21 23
keller syndrome 9 44 22
fgs 9 44 22
segmental glomerulosclerosis 44 63
focal glomerulosclerosis 9 63
fgs1 44 22
fsgs 9 44
mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum 22
mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum 44
glomerulosclerosis, focal segmental, 1 48
glomerulosclerosis, focal segmental 46
focal sclerosis with hyalinosis 44
focal glomerular sclerosis 9
glomerulosclerosis, focal 44
glomerulosclerosis focal 46
glomerulosclerosis 63
fg syndrome type 1 50
fsgs1 44
oks 22


External Ids:

Disease Ontology9 DOID:1312, DOID:14711
NCIt41 C37308
ICD10 via Orphanet27 Q87.8

Related Diseases for Focal Segmental Glomerulosclerosis

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18GeneCards, 19GeneDecks
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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 191)
idRelated DiseaseScoreTop Affiliating Genes
1glomerulosclerosis32.3ACTN4, NPHS1, NPHS2, CD2AP, WT1, TRPC6
2nephrotic syndrome31.3ACTN4, PLCE1, SYNPO, NPHS1, NPHS2, CD2AP
3nephrosis31.1ACTN4, NPHS1, NPHS2
4proteinuria30.9NPHS1, NPHS2, CD2AP, WT1, TRPC6, COL4A3
5glomerulonephritis30.8ACTN4, SYNPO, COL4A3, NPHS1, NPHS2, CD2AP
6membranous glomerulonephritis30.8CD2AP, NPHS2, NPHS1
7frasier syndrome30.5WT1
8lipoid nephrosis30.4NPHS1, NPHS2, CD2AP
9wilms tumor30.3CD2AP, CDKN1C, WT1, NPHS2, NPHS1, SYNPO
10nephritis30.3COL4A3, NPHS1, NPHS2
11diabetic nephropathy30.3SYNPO, NPHS1, NPHS2
12hepatitis10.6
13focal segmental glomerulosclerosis 310.6
14focal segmental glomerulosclerosis 510.6
15focal segmental glomerulosclerosis 210.6
16kidney disease10.6
17obesity10.6
18hepatitis b10.5
19leukemia10.5
20polycythemia10.5
21endotheliitis10.5
22fg syndrome 410.5
23hepatitis c10.4
24polycythemia vera10.4
25membranoproliferative glomerulonephritis10.4
26hypertension10.4
27myeloma10.4
28nephrotic syndrome, type 110.4
29fg syndrome 210.4
30renovascular hypertension10.4
31arteriolosclerosis10.4
32churg-strauss syndrome10.4
33pulmonary sarcoidosis10.4
34hypothyroidism10.4
35sarcoidosis10.4
36thin basement membrane nephropathy10.4
37steroid-resistant nephrotic syndrome10.4
38coenzyme q10 deficiency, primary, 610.4
39glomerulosclerosis, focal segmental, 410.4
40fg syndrome 310.3
41polycystic kidney disease10.2
42mental retardation10.2
43fg syndrome type 110.2
44fg syndrome 510.2
45renal agenesis10.2
46unilateral renal agenesis10.2
47graft versus host disease10.2
48kimura disease10.2
49neurofibromatosis10.2
50familial nephrotic syndrome10.2

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



Diseases related to focal segmental glomerulosclerosis

Symptoms for Focal Segmental Glomerulosclerosis

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48OMIM
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Symptoms by clinical synopsis from OMIM:

305450

Clinical features from OMIM:

603278,613237,607832,603965,612551,300321,300422,305450

Drugs & Therapeutics for Focal Segmental Glomerulosclerosis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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 UMLS63/NDF-RT42:

Genetic Tests for Focal Segmental Glomerulosclerosis

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21GeneTests, 23GTR
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Genetic tests related to Focal Segmental Glomerulosclerosis:

id Genetic test Affiliating Genes
1 Focal Segmental Glomerulosclerosis21 23 TRPC6
2 Focal Segmental Glomerulosclerosis 121 23 ACTN4
3 Fg Syndrome23

Anatomical Context for Focal Segmental Glomerulosclerosis

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32LifeMap Discovery‚ĄĘ, 34MalaCards
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MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis:

34
Kidney, Heart, Endothelial, Liver, Bone, Lung, Eye, Bone marrow, 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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38MGI
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MGI Mouse Phenotypes related to Focal Segmental Glomerulosclerosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.8MYO1E, PLCE1, CDKN1C, WT1, TRPC6, CYP11B2
2MP:00053856.0ACTN4, MED12, MYO1E, CYP11B2, TRPC6, PLCE1
3MP:00053676.0CDKN1C, CYP11B2, WT1, CD2AP, NPHS2, NPHS1
4MP:00053766.0PLCE1, ACTN4, MYO1E, CYP11B2, COL4A3, NPHS1
5MP:00107685.8ACTN4, COL4A3, NPHS1, NPHS2, CD2AP, CDKN1C

Publications for Focal Segmental Glomerulosclerosis

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53PubMed
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Articles related to Focal Segmental Glomerulosclerosis:

(show top 50)    (show all 548)
idTitleAuthorsYear
1
Mutational analysis of ACTN4, encoding I+-actinin 4, in patients with focal segmental glomerulosclerosis using HRM method. (23890478)
2013
2
Tacrolimus versus cyclophosphamide in steroid-dependent or steroid-resistant focal segmental glomerulosclerosis: a randomized controlled trial. (23343906)
2013
3
Mycophenolate mofetil for primary focal segmental glomerulosclerosis: systematic review. (23751146)
2013
4
A retrospective study of focal segmental glomerulosclerosis: clinical criteria can identify patients at high risk for recurrent disease after first renal transplantation. (23433074)
2013
5
A review of the diagnosis and treatment of Ochratoxin A inhalational exposure associated with human illness and kidney disease including focal segmental glomerulosclerosis. (22253638)
2012
6
TRPC6 gene variants in Czech adult patients with focal segmental glomerulosclerosis and minimal change disease. (22980509)
2012
7
Pathobiology of focal segmental glomerulosclerosis: new developments. (22357339)
2012
8
Focal segmental glomerulosclerosis: a diagnostic problem. (22535607)
2012
9
Collapsing focal segmental glomerulosclerosis: Current concepts. (24175240)
2012
10
Podocyte Wnt/A9-catenin pathway is activated by integrin-linked kinase in clinical and experimental focal segmental glomerulosclerosis. (21928230)
2012
11
Treatment of recurrent focal segmental glomerulosclerosis in pediatric kidney transplant recipients: effect of rituximab. (21577271)
2011
12
Immunosuppressive treatment of focal segmental glomerulosclerosis: lessons from a randomized controlled trial. (21960168)
2011
13
Clinical course of primary focal segmental glomerulosclerosis (FSGS) in Turkish children: a report from the Turkish Pediatric Nephrology FSGS Study Group. (20718182)
2010
14
An unusual cause of focal segmental glomerulosclerosis: psoriasis vulgaris. (20486850)
2010
15
Recurrence of focal segmental glomerulosclerosis in renal allograft: an in-depth review. (20519016)
2010
16
Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis. (18830715)
2009
17
Prognostic value of clinical, laboratory, and morphological factors in patients with primary focal segmental glomerulosclerosis - distribution of pathological variants in the Croatian population. (19789521)
2009
18
Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association. (19437094)
2009
19
Massive proteinuria and acute renal failure after oral bisphosphonate (alendronate) administration in a patient with focal segmental glomerulosclerosis. (18754075)
2009
20
Rituximab in minimal change nephropathy and focal segmental glomerulosclerosis: report of four cases and review of the literature. (19011266)
2008
21
Intramembranous microspherical structures in focal segmental glomerulosclerosis. (19002748)
2008
22
Focal segmental glomerulosclerosis and nephrotic syndrome in a child with embryonal rhabdomyosarcoma. (18175060)
2008
23
Review on diagnosis and treatment of focal segmental glomerulosclerosis. (18219061)
2008
24
Podocyte foot process effacement as a diagnostic tool in focal segmental glomerulosclerosis. (18813290)
2008
25
Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis. (18164029)
2008
26
The spectrum of focal segmental glomerulosclerosis: new insights. (18408478)
2008
27
Is focal segmental glomerulosclerosis increasing in patients with nephrotic syndrome? (17551756)
2007
28
Osteopontin as an injury marker expressing in epithelial hyperplasia lesions helpful in prognosis of focal segmental glomerulosclerosis. (17900509)
2007
29
Successful treatment of focal segmental glomerulosclerosis in association with mantle cell lymphoma. (17497453)
2007
30
Takayasu arteritis: association with focal segmental glomerulosclerosis. (16496079)
2007
31
NPHS2 variation in sporadic focal segmental glomerulosclerosis. (17942957)
2007
32
Educational feature on focal segmental glomerulosclerosis (FSGS): an introduction. (17106687)
2007
33
NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis. (16874699)
2006
34
Focal segmental glomerulosclerosis--does treatment work? (16785739)
2006
35
Computational simulation of renal biopsy accuracy in focal segmental glomerulosclerosis. (16773406)
2006
36
Reduced podocyte expression of alpha3beta1 integrins and podocyte depletion in patients with primary focal segmental glomerulosclerosis and chronic PAN-treated rats. (16887498)
2006
37
Collapsing and non-collapsing focal segmental glomerulosclerosis in kidney transplants. (16705026)
2006
38
Clinical and pathologic characteristics of focal segmental glomerulosclerosis pathologic variants. (16518352)
2006
39
Focal segmental glomerulosclerosis after membranous glomerulonephritis in remission: temporal diversity of glomerulopathy after bone marrow transplantation. (17020780)
2006
40
Hepatitis B infection as a possible cause of focal segmental glomerulosclerosis (FSGS). (16724663)
2006
41
Podocin-related mechanisms in posttransplant [corrected] recurrence of focal segmental glomerulosclerosis [corrected]. (17175312)
2006
42
Prednisone/cyclophosphamide treatment in adult-onset autosomal dominant familial focal segmental glomerulosclerosis (FSGS 1). (16792147)
2006
43
The parietal epithelial cell is crucially involved in human idiopathic focal segmental glomerulosclerosis. (16164633)
2005
44
Coexistence of idiopathic membranous glomerulonephritis and idiopathic focal segmental glomerulosclerosis. (16370166)
2005
45
The focal segmental glomerulosclerosis permeability factor: biochemical characteristics and biological effects. (14709781)
2004
46
The morphological characteristics and expression of cell cycle regulatory proteins in cellular variants of idiopathic focal segmental glomerulosclerosis. (15100731)
2004
47
Apolipoprotein E in idiopathic nephrotic syndrome and focal segmental glomerulosclerosis. (12631135)
2003
48
Secondary focal segmental glomerulosclerosis in non-obese patients with increased muscle mass. (14579937)
2003
49
Accumulation of cholesterol in the lesions of focal segmental glomerulosclerosis. (15012708)
2003
50
Nephrotic syndrome associated with focal segmental glomerulosclerosis in a patient with systemic lupus erythematosus and membranous glomerulonephritis in remission (10561162)
1999

Variations for Focal Segmental Glomerulosclerosis

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Focal Segmental Glomerulosclerosis:

65
id Symbol AA change Variation ID SNP ID
1ACTN4p.Lys255GluVAR_010378rs28939374
2ACTN4p.Thr259IleVAR_010379rs28939375
3ACTN4p.Ser262ProVAR_010380rs28939376
4MED12p.Arg961TrpVAR_033112

Clinvar genetic disease variations for Focal Segmental Glomerulosclerosis:

1
id Gene Name Type Significance SNP ID Assembly Location
1MED12NM_005120.2(MED12): c.2881C> T (p.Arg961Trp)single nucleotide variantPathogenicrs80338758GRCh37Chr X, 70347217: 70347217
2ACTN4NM_004924.4(ACTN4): c.763A> G (p.Lys255Glu)single nucleotide variantPathogenicrs121908415GRCh37Chr 19, 39200926: 39200926
3ACTN4NM_004924.4(ACTN4): c.776C> T (p.Thr259Ile)single nucleotide variantPathogenicrs121908416GRCh37Chr 19, 39200939: 39200939
4ACTN4NM_004924.4(ACTN4): c.784T> C (p.Ser262Pro)single nucleotide variantPathogenicrs121908417GRCh37Chr 19, 39200947: 39200947
5MED12NM_005120.2(MED12): c.2873G> A (p.Gly958Glu)single nucleotide variantPathogenicrs397515554GRCh37Chr X, 70347209: 70347209

Expression for genes affiliated with Focal Segmental Glomerulosclerosis

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2BioGPS, 16Gene 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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51PathCards, 56Reactome, 39NCBI BioSystems Database
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Compounds for genes affiliated with Focal Segmental Glomerulosclerosis

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46Novoseek
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Compounds related to Focal Segmental Glomerulosclerosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1puromycin aminonucleoside469.3CD2AP, NPHS2, NPHS1
2creatinine468.7WT1, NPHS2, NPHS1, SYNPO
3lipid468.0CYP11B2, APOL1, NPHS1, NPHS2, CD2AP, TRPC6
4steroid467.8CYP11B2, SYNPO, NPHS1, NPHS2, CD2AP, WT1

GO Terms for genes affiliated with Focal Segmental Glomerulosclerosis

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17Gene Ontology
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Cellular components related to Focal Segmental Glomerulosclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1actin cytoskeletonGO:0156299.5CD2AP, SYNPO, MYO1E
2cell-cell junctionGO:0059119.3NPHS2, ACTN4, MYO1E
3slit diaphragmGO:0360579.3TRPC6, NPHS2, NPHS1

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

idNameGO IDScoreTop Affiliating Genes
1glomerular visceral epithelial cell developmentGO:0720159.7MYO1E, NPHS1
2heart developmentGO:0075079.4WT1, PLCE1, MED12
3glomerulus developmentGO:0328359.4WT1, PLCE1
4glomerular basement membrane developmentGO:0328368.6WT1, NPHS1, COL4A3, MYO1E

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055155.4TRPC6, MYO1E, MED12, ACTN4, PLCE1, SYNPO

Products for genes affiliated with Focal Segmental Glomerulosclerosis

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Sources for Focal Segmental Glomerulosclerosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet