FGS
MCID: FCL005
MIFTS: 70

Focal Segmental Glomerulosclerosis (FGS) malady

Genetic diseases, Rare diseases, Nephrological diseases, Neuronal diseases, Mental diseases categories
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Summaries for Focal Segmental Glomerulosclerosis

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NIH Rare Diseases:42 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 based summary: Focal Segmental Glomerulosclerosis, also known as fg syndrome, is related to glomerulosclerosis and nephrosis, and has symptoms including An important gene associated with Focal Segmental Glomerulosclerosis is ACTN4 (actinin, alpha 4), and among its related pathways are Cell junction organization and Nephrin interactions. 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:21 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:65 Focal segmental glomerulosclerosis (FSGS) is a cause of nephrotic syndrome in children and adolescents,... more...

Descriptions from OMIM:46 603965,612551,607832,603278,613237

Aliases & Classifications for Focal Segmental Glomerulosclerosis

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Focal Segmental Glomerulosclerosis, Aliases & Descriptions:

Name: Focal Segmental Glomerulosclerosis 30 8 42 20 22 10
Fg Syndrome 65 42 21 10 62
Focal Segmental Glomerulosclerosis 1 42 20 22 62
Fgs 8 42 22 21
Glomerulosclerosis, Focal Segmental 44 62
Focal Sclerosis with Hyalinosis 42 62
Segmental Glomerulosclerosis 42 62
Focal Glomerular Sclerosis 8 62
Focal Glomerulosclerosis 8 62
Opitz-Kaveggia Syndrome 42 21
Keller Syndrome 42 21
 
Fgs1 42 21
Fsgs 8 42
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of the Corpus Callosum 21
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of Corpus Callosum 42
Glomerulosclerosis, Focal Segmental, 1 46
Glomerulosclerosis, Focal 42
Glomerulosclerosis Focal 44
Glomerulosclerosis 62
Fsgs1 42
Oks 21


Classifications:



External Ids:

Disease Ontology8 DOID:1312
SNOMED-CT57 236403004, 25821008
NCIt39 C37308
MeSH34 D005923

Related Diseases for Focal Segmental Glomerulosclerosis

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Diseases in the Focal Segmental Glomerulosclerosis family:

Focal Segmental Glomerulosclerosis 3 Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 2 Focal Segmental Glomerulosclerosis 8
Glomerulosclerosis, Focal Segmental, 7 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 198)
idRelated DiseaseScoreTop Affiliating Genes
1glomerulosclerosis32.0ACTN4, NPHS1, NPHS2, CD2AP, WT1, TRPC6
2nephrosis31.3ACTN4, NPHS1, NPHS2
3membranous glomerulonephritis31.0CD2AP, NPHS2, NPHS1
4frasier syndrome30.9WT1
5nephrotic syndrome30.7ACTN4, PLCE1, SYNPO, NPHS1, NPHS2, CD2AP
6nephritis30.5COL4A3, NPHS1, NPHS2
7lipoid nephrosis30.5NPHS1, NPHS2, CD2AP
8glomerulonephritis30.4ACTN4, SYNPO, COL4A3, NPHS1, NPHS2, CD2AP
9diabetic nephropathy30.2SYNPO, NPHS1, NPHS2
10proteinuria29.8NPHS1, NPHS2, CD2AP, WT1, TRPC6, COL4A3
11wilms tumor29.7CD2AP, CDKN1C, WT1, NPHS2, NPHS1, SYNPO
12fg syndrome11.0
13hepatitis10.6
14focal segmental glomerulosclerosis 310.6
15focal segmental glomerulosclerosis 510.6
16focal segmental glomerulosclerosis 210.6
17obesity10.6
18kidney disease10.6
19fg syndrome 210.5
20hepatitis b10.5
21leukemia10.5
22polycythemia10.5
23steroid-resistant nephrotic syndrome10.5
24endotheliitis10.5
25fg syndrome 410.5
26hypertension10.5
27membranoproliferative glomerulonephritis10.5
28hepatitis c10.5
29polycythemia vera10.5
30myeloma10.5
31nephrotic syndrome, type 110.5
32fg syndrome 310.4
33chronic inflammatory demyelinating polyneuropathy10.4
34kartagener syndrome10.4
35systemic lupus erythematosus10.4
36renovascular hypertension10.4
37arteriolosclerosis10.4
38churg-strauss syndrome10.4
39demyelinating polyneuropathy10.4
40hypothyroidism10.4
41lupus erythematosus10.4
42pneumonia10.4
43polyneuropathy10.4
44thin basement membrane nephropathy10.4
45focal segmental glomerulosclerosis 810.4
46glomerulosclerosis, focal segmental, 710.4
47coenzyme q10 deficiency, primary, 610.4
48glomerulosclerosis, focal segmental, 410.4
49mental retardation10.3
50fg syndrome 510.3

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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Clinical features from OMIM:

603965,612551,607832,603278,613237

HPO human phenotypes related to Focal Segmental Glomerulosclerosis:

id Description Frequency HPO Source Accession
1 focal segmental glomerulosclerosis obligate (100%) HP:0000097
2 proteinuria HP:0000093
3 edema HP:0000969
4 hypoalbuminemia HP:0003073
5 hyperlipidemia HP:0003077

Drugs & Therapeutics for Focal Segmental Glomerulosclerosis

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Drug clinical trials:

Search ClinicalTrials for Focal Segmental Glomerulosclerosis

Search NIH Clinical Center for Focal Segmental Glomerulosclerosis

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Focal Segmental Glomerulosclerosis

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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
3 Fg Syndrome22

Anatomical Context for Focal Segmental Glomerulosclerosis

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MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis:

32
Kidney, Heart, Endothelial, Bone marrow, Eye, Bone, Liver, Myeloid, Neutrophil

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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MGI Mouse Phenotypes related to Focal Segmental Glomerulosclerosis:

36
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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Articles related to Focal Segmental Glomerulosclerosis:

(show top 50)    (show all 574)
idTitleAuthorsYear
1
Lack of renoprotective effect of chronic intravenous Angiotensin-(1-7) or Angiotensin-(2-10) in a rat model of focal segmental glomerulosclerosis. (25337950)
2014
2
Dynamic changes of urinary proteins in a focal segmental glomerulosclerosis rat model. (25061428)
2014
3
Mutational analysis of ACTN4, encoding I+-actinin 4, in patients with focal segmental glomerulosclerosis using HRM method. (23890478)
2013
4
Tacrolimus versus cyclophosphamide in steroid-dependent or steroid-resistant focal segmental glomerulosclerosis: a randomized controlled trial. (23343906)
2013
5
Mycophenolate mofetil for primary focal segmental glomerulosclerosis: systematic review. (23751146)
2013
6
A retrospective study of focal segmental glomerulosclerosis: clinical criteria can identify patients at high risk for recurrent disease after first renal transplantation. (23433074)
2013
7
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
8
TRPC6 gene variants in Czech adult patients with focal segmental glomerulosclerosis and minimal change disease. (22980509)
2012
9
Pathobiology of focal segmental glomerulosclerosis: new developments. (22357339)
2012
10
Focal segmental glomerulosclerosis: a diagnostic problem. (22535607)
2012
11
Collapsing focal segmental glomerulosclerosis: Current concepts. (24175240)
2012
12
Treatment of recurrent focal segmental glomerulosclerosis in pediatric kidney transplant recipients: effect of rituximab. (21577271)
2011
13
Immunosuppressive treatment of focal segmental glomerulosclerosis: lessons from a randomized controlled trial. (21960168)
2011
14
Clinical course of primary focal segmental glomerulosclerosis (FSGS) in Turkish children: a report from the Turkish Pediatric Nephrology FSGS Study Group. (20718182)
2010
15
An unusual cause of focal segmental glomerulosclerosis: psoriasis vulgaris. (20486850)
2010
16
Recurrence of focal segmental glomerulosclerosis in renal allograft: an in-depth review. (20519016)
2010
17
Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis. (18830715)
2009
18
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
19
Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association. (19437094)
2009
20
Massive proteinuria and acute renal failure after oral bisphosphonate (alendronate) administration in a patient with focal segmental glomerulosclerosis. (18754075)
2009
21
Rituximab in minimal change nephropathy and focal segmental glomerulosclerosis: report of four cases and review of the literature. (19011266)
2008
22
Intramembranous microspherical structures in focal segmental glomerulosclerosis. (19002748)
2008
23
Focal segmental glomerulosclerosis and nephrotic syndrome in a child with embryonal rhabdomyosarcoma. (18175060)
2008
24
Review on diagnosis and treatment of focal segmental glomerulosclerosis. (18219061)
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
The parietal epithelial cell is crucially involved in human idiopathic focal segmental glomerulosclerosis. (16164633)
2005
43
Coexistence of idiopathic membranous glomerulonephritis and idiopathic focal segmental glomerulosclerosis. (16370166)
2005
44
The focal segmental glomerulosclerosis permeability factor: biochemical characteristics and biological effects. (14709781)
2004
45
The morphological characteristics and expression of cell cycle regulatory proteins in cellular variants of idiopathic focal segmental glomerulosclerosis. (15100731)
2004
46
Apolipoprotein E in idiopathic nephrotic syndrome and focal segmental glomerulosclerosis. (12631135)
2003
47
Secondary focal segmental glomerulosclerosis in non-obese patients with increased muscle mass. (14579937)
2003
48
Accumulation of cholesterol in the lesions of focal segmental glomerulosclerosis. (15012708)
2003
49
Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease. (11470934)
2001
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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UniProtKB/Swiss-Prot genetic disease variations for Focal Segmental Glomerulosclerosis:

64
id Symbol AA change Variation ID SNP ID
1ACTN4p.Lys255GluVAR_010378rs28939374
2ACTN4p.Thr259IleVAR_010379rs28939375
3ACTN4p.Ser262ProVAR_010380rs28939376

Clinvar genetic disease variations for Focal Segmental Glomerulosclerosis:

6
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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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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Compounds for genes affiliated with Focal Segmental Glomerulosclerosis

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

idCompoundScoreTop Affiliating Genes
1puromycin aminonucleoside449.3NPHS1, NPHS2, CD2AP
2creatinine448.7WT1, NPHS1, SYNPO, NPHS2
3lipid448.0CD2AP, NPHS2, TRPC6, NPHS1, APOL1, CYP11B2
4steroid447.8CYP11B2, SYNPO, NPHS1, NPHS2, CD2AP, WT1

GO Terms for genes affiliated with Focal Segmental Glomerulosclerosis

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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:0720159.7NPHS1, MYO1E
2heart developmentGO:0075079.4MED12, PLCE1, WT1
3glomerulus developmentGO:0328359.4PLCE1, WT1
4glomerular basement membrane developmentGO:0328368.6WT1, MYO1E, COL4A3, NPHS1

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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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