MCID: FCL005
MIFTS: 58

Focal Segmental Glomerulosclerosis malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Neuronal diseases, Mental diseases, Nephrological diseases categories

Summaries for Focal Segmental Glomerulosclerosis

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NIH Rare Diseases:41 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. An important gene associated with Focal Segmental Glomerulosclerosis is MED12 (mediator complex subunit 12), and among its related pathways are Cell junction organization and Nephrin interactions. The drug cyclosporine and the compounds puromycin aminonucleoside and lipid have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and bone, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

Disease Ontology:9 An x-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an x-linked recessive inheritance pattern.

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

Aliases & Classifications for Focal Segmental Glomerulosclerosis

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Focal Segmental Glomerulosclerosis, Aliases & Descriptions:

Name: Focal Segmental Glomerulosclerosis 30 9 41 20 11
Fg Syndrome 9 63 41 21 11 22
Terminal Transverse Defects of Arm 41 47 60
Opitz-Kaveggia Syndrome 9 41 21
Keller Syndrome 9 41 21
Fgs 9 41 21
Glomerulosclerosis, Focal Segmental 43 22
Segmental Glomerulosclerosis 41 60
Congenital Limb Amputation 41 47
Focal Glomerulosclerosis 9 60
Fsgs 9 41
 
Fgs1 41 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 41
Focal Segmental Glomerulosclerosis 1 41
Focal Sclerosis with Hyalinosis 41
Focal Glomerular Sclerosis 9
Glomerulosclerosis, Focal 41
Glomerulosclerosis Focal 43
Fsgs1 41
Oks 21


Classifications:



External Ids:

Disease Ontology9 DOID:1312, DOID:14711
NCIt38 C37308
Orphanet47 93937
ICD10 via Orphanet26 Q79.8

Related Diseases for Focal Segmental Glomerulosclerosis

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Diseases in the Focal Segmental Glomerulosclerosis family:

Focal Segmental Glomerulosclerosis 8 Focal Segmental Glomerulosclerosis 9
Glomerulosclerosis, Focal Segmental, 3 Glomerulosclerosis, Focal Segmental, 7
Glomerulosclerosis, Focal Segmental, 2 Glomerulosclerosis, Focal Segmental, 5
Glomerulosclerosis, Focal Segmental, 6 Glomerulosclerosis, Focal Segmental, 1
Glomerulosclerosis, Focal Segmental, 4

Diseases related to Focal Segmental Glomerulosclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 195)
idRelated DiseaseScoreTop Affiliating Genes
1glomerulosclerosis31.5TRPC6, WT1, CD2AP, NPHS2, NPHS1, ACTN4
2nephrosis31.1NPHS2, NPHS1, ACTN4
3frasier syndrome30.6WT1
4denys-drash syndrome30.5WT1
5glomerulonephritis30.4ACTN4, SYNPO, NPHS1, NPHS2, CD2AP
6wilms tumor30.3WT1, NPHS1
7lipoid nephrosis30.2CD2AP, NPHS2, NPHS1
8proteinuria30.1TRPC6, WT1, CD2AP, NPHS2, NPHS1, SYNPO
9nephrotic syndrome30.0ACTN4, PLCE1, SYNPO, TRPC6, WT1, CD2AP
10opitz-kaveggia syndrome10.9
11glomerulosclerosis, focal segmental, 110.7
12glomerulosclerosis, focal segmental, 310.6
13glomerulosclerosis, focal segmental, 210.6
14glomerulosclerosis, focal segmental, 510.6
15hepatitis10.6
16obesity10.6
17glomerulosclerosis, focal segmental, 610.6
18glomerulosclerosis, focal segmental, 410.6
19kidney disease10.6
20endotheliitis10.6
21glomerulosclerosis, focal segmental, 710.5
22hepatitis b10.5
23leukemia10.5
24membranous glomerulonephritis10.5
25polycythemia10.5
26steroid-resistant nephrotic syndrome10.5
27fg syndrome 410.5
28fg syndrome 210.5
29focal segmental glomerulosclerosis 810.5
30polycythemia vera10.5
31focal segmental glomerulosclerosis 910.5
32coenzyme q10 deficiency, primary, 610.5
33nephrotic syndrome, type 110.5
34hepatitis c10.5
35membranoproliferative glomerulonephritis10.5
36myeloma10.5
37fg syndrome 310.4
38rheumatoid arthritis10.4
39systemic lupus erythematosus10.4
40nephrotic syndrome, type 210.4
41nephrotic syndrome, type 310.4
42nephrotic syndrome, type 410.4
43galloway-mowat syndrome10.4
44arthritis10.4
45chronic inflammatory demyelinating polyneuropathy10.4
46pulmonary sarcoidosis10.4
47renovascular hypertension10.4
48arteriolosclerosis10.4
49churg-strauss syndrome10.4
50demyelinating polyneuropathy10.4

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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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 UMLS60/NDF-RT39:

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 Fg Syndrome22

Anatomical Context for Focal Segmental Glomerulosclerosis

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MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis:

31
Kidney, Heart, Bone, Endothelial, Bone marrow, Eye, Liver, Lung, Myeloid, Neutrophil

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.3TRPC6, MED12, WT1, CD2AP, MYO1E, NPHS2
2MP:00053767.3WT1, MYO1E, ACTN4, PLCE1, NPHS2, CD2AP
3MP:00053676.9MYO1E, ACTN4, SYNPO, NPHS1, NPHS2, CD2AP

Publications for Focal Segmental Glomerulosclerosis

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Articles related to Focal Segmental Glomerulosclerosis:

(show top 50)    (show all 595)
idTitleAuthorsYear
1
Glomerular endothelial cell injury and focal segmental glomerulosclerosis lesion in idiopathic membranous nephropathy. (25875837)
2015
2
Secondary focal segmental glomerulosclerosis in an adolescent born with a very low birth weight. (25274236)
2014
3
Lack of renoprotective effect of chronic intravenous Angiotensin-(1-7) or Angiotensin-(2-10) in a rat model of focal segmental glomerulosclerosis. (25337950)
2014
4
Dynamic changes of urinary proteins in a focal segmental glomerulosclerosis rat model. (25061428)
2014
5
Mutational analysis of ACTN4, encoding I+-actinin 4, in patients with focal segmental glomerulosclerosis using HRM method. (23890478)
2013
6
Tacrolimus versus cyclophosphamide in steroid-dependent or steroid-resistant focal segmental glomerulosclerosis: a randomized controlled trial. (23343906)
2013
7
Mycophenolate mofetil for primary focal segmental glomerulosclerosis: systematic review. (23751146)
2013
8
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
9
TRPC6 gene variants in Czech adult patients with focal segmental glomerulosclerosis and minimal change disease. (22980509)
2012
10
Pathobiology of focal segmental glomerulosclerosis: new developments. (22357339)
2012
11
Focal segmental glomerulosclerosis: a diagnostic problem. (22535607)
2012
12
Collapsing focal segmental glomerulosclerosis: Current concepts. (24175240)
2012
13
Treatment of recurrent focal segmental glomerulosclerosis in pediatric kidney transplant recipients: effect of rituximab. (21577271)
2011
14
Immunosuppressive treatment of focal segmental glomerulosclerosis: lessons from a randomized controlled trial. (21960168)
2011
15
Clinical course of primary focal segmental glomerulosclerosis (FSGS) in Turkish children: a report from the Turkish Pediatric Nephrology FSGS Study Group. (20718182)
2010
16
An unusual cause of focal segmental glomerulosclerosis: psoriasis vulgaris. (20486850)
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
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
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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Clinvar genetic disease variations for Focal Segmental Glomerulosclerosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MED12NM_005120.2(MED12): c.2881C> T (p.Arg961Trp)single nucleotide variantPathogenicrs80338758GRCh37Chr X, 70347217: 70347217
2MED12NM_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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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 Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1puromycin aminonucleoside438.7CD2AP, NPHS2, NPHS1
2lipid438.1TRPC6, CD2AP, NPHS2, NPHS1, APOL1
3creatinine437.7SYNPO, NPHS1, NPHS2, WT1
4steroid437.5SYNPO, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell-cell junctionGO:00059119.3NPHS2, ACTN4, MYO1E
2slit diaphragmGO:00360578.9TRPC6, NPHS2, NPHS1
3protein complexGO:00432348.8NPHS2, NPHS1, ACTN4
4actin cytoskeletonGO:00156298.8MYO1E, SYNPO, CD2AP

Biological processes related to Focal Segmental Glomerulosclerosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1heart developmentGO:00075079.4WT1, PLCE1, MED12
2glomerulus developmentGO:00328359.3PLCE1, WT1
3glomerular visceral epithelial cell developmentGO:00720159.2NPHS1, MYO1E
4glomerular basement membrane developmentGO:00328368.8WT1, NPHS1, MYO1E

Molecular functions related to Focal Segmental Glomerulosclerosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055155.7TRPC6, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet