FGS
MCID: FCL008
MIFTS: 60

Focal Glomerulosclerosis (FGS) malady

Neuronal diseases category

Summaries for Focal Glomerulosclerosis

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42NIH Rare Diseases, 21Genetics Home Reference, 32MalaCards
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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: Focal Glomerulosclerosis, also known as fg syndrome, is related to nephrotic syndrome and proteinuria. An important gene associated with Focal Glomerulosclerosis is FABP1 (fatty acid binding protein 1, liver), and among its related pathways are FOXA2 and FOXA3 transcription factor networks and Lipoprotein metabolism. The drug cyclosporine and the compounds captopril and palmitate have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and endothelial, and related mouse phenotypes are renal/urinary system and liver/biliary 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.

Aliases & Classifications for Focal Glomerulosclerosis

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Sources:
8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

focal glomerulosclerosis 8 60
fg syndrome 63 42 21 10 60
fgs 8 42 22 21
opitz-kaveggia syndrome 42 21
keller syndrome 42 21
fgs1 42 21
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
focal glomerular sclerosis 8
oks 21


External Ids:

Disease Ontology8 DOID:3945
MeSH34 D005923
SNOMED-CT56 236403004, 25821008
NCIt39 C37308

Related Diseases for Focal Glomerulosclerosis

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Focal Glomerulosclerosis:



Diseases related to focal glomerulosclerosis

Clinical Features for Focal Glomerulosclerosis

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Drugs & Therapeutics for Focal Glomerulosclerosis

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

Search CenterWatch for Focal Glomerulosclerosis

Drug clinical trials:

Search ClinicalTrials for Focal Glomerulosclerosis

Search NIH Clinical Center for Focal Glomerulosclerosis

Search CenterWatch for Focal Glomerulosclerosis

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Focal Glomerulosclerosis

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22GTR
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Genetic tests related to Focal Glomerulosclerosis:

id Genetic test Affiliating Genes
1 Fg Syndrome22

Anatomical Context for Focal Glomerulosclerosis

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32MalaCards
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MalaCards organs/tissues related to Focal Glomerulosclerosis:

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

Animal Models for Focal Glomerulosclerosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Focal Glomerulosclerosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053677.7ALB, ACE, CLCN5, REN, NPHS2
2MP:00053707.5FABP1, LPL, CLCN5, ACE, ALB
3MP:00053766.4ALB, NPHS2, FABP1, LPL, VLDLR, REN

Publications for Focal Glomerulosclerosis

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50PubMed
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Articles related to Focal Glomerulosclerosis:

(show top 50)    (show all 733)
idTitleAuthorsYear
1
A case of focal segmental glomerulosclerosis syndrome secondary to high-altitude polycythemia. (24059478)
2014
2
Focal segmental glomerulosclerosis and kidney transplantation. (23880801)
2013
3
Podocyte foot process effacement in postreperfusion allograft biopsies correlates with early recurrence of proteinuria in focal segmental glomerulosclerosis. (23917686)
2013
4
Immunohistochemical expression of podocyte markers in the variants of focal segmental glomerulosclerosis. (22859792)
2013
5
Paraneoplastic focal segmental glomerulosclerosis in a patient with lung adenocarcinoma. (23994990)
2013
6
Plekhh2, a novel podocyte protein downregulated in human focal segmental glomerulosclerosis, is involved in matrix adhesion and actin dynamics. (22832517)
2012
7
Focal segmental glomerulosclerosis plays a major role in the progression of IgA nephropathy. II. Light microscopic and clinical studies. (21178978)
2011
8
Influence of aldosterone synthase gene C-344T polymorphism on focal segmental glomerulosclerosis. (21777344)
2011
9
The association between angiotensin-converting enzyme insertion/deletion gene variant and risk of focal segmental glomerulosclerosis: a systematic review and meta-analysis. (21652690)
2011
10
The factors that may predict response to rituximab therapy in recurrent focal segmental glomerulosclerosis: a systematic review. (22174985)
2011
11
Successful treatment of recurrent focal segmental glomerulosclerosis after renal transplantation by lymphocytapheresis and rituximab. (20536913)
2010
12
Functional analysis of promoter mutations in the ACTN4 and SYNPO genes in focal segmental glomerulosclerosis. (19666657)
2010
13
Recurrence of focal segmental glomerulosclerosis after kidney transplantation: strategies and outcome. (20733489)
2010
14
Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis. (18830715)
2009
15
CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). (19131354)
2009
16
Mycophenolate mofetil or standard therapy for membranous nephropathy and focal segmental glomerulosclerosis: a pilot study. (17989103)
2008
17
Focal segmental glomerulosclerosis with intramembranous vesicle-like microstructures and podocytic infolding lesion. (18979062)
2008
18
Immediate versus long-term effect of rituximab in recurrent focal segmental glomerulosclerosis. (18564984)
2008
19
Post-transplant focal segmental glomerulosclerosis refractory to plasmapheresis and rituximab therapy. (17981882)
2008
20
Osteopontin as an injury marker expressing in epithelial hyperplasia lesions helpful in prognosis of focal segmental glomerulosclerosis. (17900509)
2007
21
High sirolimus levels may induce focal segmental glomerulosclerosis de novo. (17699432)
2007
22
Focal segmental glomerulosclerosis associated with long-term treatment with zoledronate in a myeloma patient. (17526544)
2007
23
Renoprotective effects of sirolimus in non-immune initiated focal segmental glomerulosclerosis. (17550925)
2007
24
NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis. (16874699)
2006
25
Clinical and pathologic characteristics of focal segmental glomerulosclerosis pathologic variants. (16518352)
2006
26
Recurrence of proteinuria 10 years post-transplant in NPHS2-associated focal segmental glomerulosclerosis after conversion from cyclosporin A to sirolimus. (16721582)
2006
27
Long-term outcome of renal transplantation in focal glomerulosclerosis. (17112838)
2006
28
Recurrent focal glomerulosclerosis in pediatric renal allografts: the Miami experience. (15605284)
2005
29
Interleukin-10 promoter polymorphism is associated with the predisposition to the development of IgA nephropathy and focal segmental glomerulosclerosis in Korea. (16361810)
2005
30
The morphological characteristics and expression of cell cycle regulatory proteins in cellular variants of idiopathic focal segmental glomerulosclerosis. (15100731)
2004
31
Progressive bilateral sensorineural hearing loss probably induced by chronic cyclosporin A treatment after renal transplantation for focal glomerulosclerosis. (15267179)
2004
32
Pulse cyclophosphamide therapy for steroid-resistant focal segmental glomerulosclerosis in children. (15310010)
2004
33
A case of focal segmental glomerulosclerosis associated with aplastic anemia. (15608406)
2004
34
The differential effect of race among pediatric kidney transplant recipients with focal segmental glomerulosclerosis. (15168389)
2004
35
Angiotensin antagonists and steroids in the treatment of focal segmental glomerulosclerosis. (12704582)
2003
36
Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome. (12693786)
2003
37
E pluribus unum: The riddle of focal segmental glomerulosclerosis. (12704573)
2003
38
Rapid and persistent reduction of proteinuria following plasma exchange in a case of steroid-resistant focal segmental glomerulosclerosis. (11982961)
2002
39
Significance of early phenotypic change of glomerular podocytes detected by Pax2 in primary focal segmental glomerulosclerosis. (11877566)
2002
40
Familial nephropathy differing from minimal change nephropathy and focal glomerulosclerosis. (11168951)
2001
41
The nonspecificity of focal segmental glomerulosclerosis. The defining characteristics of primary focal glomerulosclerosis, mesangial proliferation, and minimal change. (9064487)
1997
42
Fish oil ameliorates renal injury and hyperlipidemia in the Milan normotensive rat model of focal glomerulosclerosis. (8589325)
1995
43
Successful renal transplantation in a patient with systemic sarcoidosis and renal failure due to focal glomerulosclerosis. (1585940)
1992
44
Monocytes and focal glomerulosclerosis. (2796289)
1989
45
Focal glomerulosclerosis associated with Charcot-Marie-Tooth disease. (4010852)
1985
46
HLA identity in siblings with focal glomerulosclerosis. (6682837)
1983
47
Nephrotic syndrome in childhood. Management and treatment in patients with minimal change disease, mesangial proliferation, or focal glomerulosclerosis. (7050865)
1982
48
Sarcoidosis. Retroperitoneal fibrosis, renal arterial involvement, and unilateral focal glomerulosclerosis. (7406624)
1980
49
Lipoid nephrosis and focal glomerulosclerosis. (355987)
1978
50
Molecular size of IgG in patients with focal glomerulosclerosis. (954235)
1976

Genetic Variations for Focal Glomerulosclerosis

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Expression for genes affiliated with Focal Glomerulosclerosis

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

Search GEO for disease gene expression data for Focal Glomerulosclerosis.

Pathways for genes affiliated with Focal Glomerulosclerosis

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37NCBI BioSystems Database, 53Reactome, 49PharmGKB
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Pathways related to Focal Glomerulosclerosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5ALB, TAT
2
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9.4ALB, LPL
3
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9.0ACE, REN

Compounds for genes affiliated with Focal Glomerulosclerosis

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44Novoseek, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Focal Glomerulosclerosis according to GeneCards/GeneDecks:

(show top 50)    (show all 73)
idCompoundScoreTop Affiliating Genes
1captopril44 28 49 59 1114.2REN
2palmitate4410.1FABP1
3norepinephrine44 11 2411.9LPL, TAT
4ornipressin449.7ALB, REN
551-cr-edta449.7ALB, REN
6terlipressin44 1110.6REN, ALB
7remikiren44 1110.4REN, ACE
8ibopamine449.4REN, ACE
9sampatrilat449.4REN, ACE
10perindoprilat449.4REN, ACE
11alacepril449.4REN, ACE
12oleic acid44 28 11 2412.4LPL, FABP1, ALB
13aliskiren44 1110.4ACE, REN
14bucindolol49 4410.4REN, ACE
15dihydralazine449.3ACE, REN
16lacidipine449.3ACE, REN
17zidovudine44 1110.3LPL, TAT, ALB
18saralasin449.3ACE, REN
19eprosartan44 28 1111.3ACE, REN
20benazepril44 1110.2ACE, REN
21cilazapril44 1110.2REN, ACE
22omapatrilat449.2ACE, REN
23phospholipid449.2VLDLR, TAT, FABP1, LPL
24bisoprolol44 49 1111.1ACE, REN
25trandolapril44 1110.1REN, ACE
26inulin449.0REN, ALB
27moxonidine449.0REN, ACE
28indapamide44 1110.0ACE, REN, ALB
29fosinopril44 1110.0REN, ALB, ACE
30lisinopril44 11 2410.9ACE, ALB, REN
31ramipril44 119.9ACE, ALB, REN
32valsartan44 59 28 1111.9REN, ALB, ACE
33thiazide448.9ACE, REN, LPL
34telmisartan44 28 1110.9ALB, ACE, REN
35perindopril44 49 1110.9ALB, ACE, REN
36irbesartan44 28 49 1111.9ALB, ACE, REN
37hydrochlorothiazide44 49 28 11 2412.9ALB, ACE, REN
38candesartan44 28 1110.9ALB, ACE, REN
39enalapril44 49 1110.9ACE, ALB, REN
40spironolactone49 44 59 28 1112.9REN, ACE, ALB
41amlodipine44 49 11 2411.9REN, ACE, ALB
42furosemide44 49 59 28 11 2413.9REN, ACE, ALB
43kininogen448.9REN, ACE, ALB
44losartan44 49 28 1111.8ALB, ACE, REN
45indomethacin44 59 28 1111.8LPL, REN, TAT, ALB
46fatty acid448.7LPL, FABP1, VLDLR, ALB
47cholesterol44 28 11 2410.7VLDLR, LPL, ALB, ACE, FABP1, REN
48glucose447.7ALB, ACE, TAT, REN, LPL, FABP1
49lipid447.6FABP1, ACE, TAT, VLDLR, NPHS2, LPL
50creatinine447.5ALB, ACE, CLCN5, REN, VLDLR, FABP1

GO Terms for genes affiliated with Focal Glomerulosclerosis

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

idNameGO IDScoreTop Affiliating Genes
1very-low-density lipoprotein particleGO:0343619.3VLDLR, LPL
2extracellular spaceGO:0056158.0ALB, ACE, REN, LPL

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

idNameGO IDScoreTop Affiliating Genes
1excretionGO:0075889.7CLCN5, NPHS2
2response to mercury ionGO:0466899.5ALB, TAT
3lipoprotein metabolic processGO:0421579.1ALB, LPL
4angiotensin maturationGO:0020038.9ACE, REN

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

idNameGO IDScoreTop Affiliating Genes
1antioxidant activityGO:0162099.6ALB, FABP1
2apolipoprotein bindingGO:0341859.5VLDLR, LPL
3fatty acid bindingGO:0055049.3ALB, FABP1
4drug bindingGO:0081448.8ALB, ACE, FABP1

Products for genes affiliated with Focal Glomerulosclerosis

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Sources for Focal 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