MCID: FGS001
MIFTS: 38

Fg Syndrome malady

Summaries for Fg Syndrome

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46OMIM, 32MalaCards
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MalaCards: Fg Syndrome, also known as opitz-kaveggia syndrome, is related to focal glomerulosclerosis and fg syndrome 2. An important gene associated with Fg Syndrome is MED12 (mediator complex subunit 12). Affiliated tissues include spinal cord and testes, and related mouse phenotypes are craniofacial and nervous system.

Description from OMIM:46 300422,300321,305450

Aliases & Classifications for Fg Syndrome

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8Disease Ontology, 60UMLS, 9diseasecard, 46OMIM, 48Orphanet, 56SNOMED-CT, 34MeSH, 26ICD10 via Orphanet
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Related Diseases for Fg Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Fg Syndrome:



Diseases related to fg syndrome

Clinical Features for Fg Syndrome

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46OMIM
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Clinical features from OMIM:

300422,300321,305450

Clinical synopsis from OMIM:

305450

Drugs & Therapeutics for Fg Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Fg Syndrome

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Anatomical Context for Fg Syndrome

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32MalaCards
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MalaCards organs/tissues related to Fg Syndrome:

32
Spinal cord, Testes

Animal Models for Fg Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Fg Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1FLNA, MED12, OPA1, CASK, RPS6KA3
2MP:00036317.7DLG3, RPS6KA3, CASK, OPA1, MED12, FLNA

Publications for Fg Syndrome

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50PubMed
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Articles related to Fg Syndrome:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
FG syndrome: the FGS2 locus revisited. (22528511)
2012
2
The FG syndrome from a pathological perspective. (21391746)
2011
3
Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome). (20981778)
2010
4
A missense mutation in CASK causes FG syndrome in an Italian family. (19200522)
2009
5
FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. (19938245)
2009
6
Treatment of FG syndrome after discontinuation of ECT. (19238119)
2009
7
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. (18973276)
2008
8
Genitourinary anomalies of pediatric FG syndrome. (17574621)
2007
9
ECT in a man with FG syndrome. (17435573)
2007
10
Filamin A mutation is one cause of FG syndrome. (17632775)
2007
11
The FG syndrome: report of a large Italian series. (16691600)
2006
12
Midline defects in FG syndrome: does tethered spinal cord contribute to the phenotype? (15812461)
2005
13
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. (16283679)
2005
14
Chiari I malformation in patients with FG syndrome. (16370281)
2005
15
Genetics of tethered cord "syndrome": The FG syndrome. (15551262)
2005
16
Transitory hypogammaglobulinemia of infancy in FG syndrome. (16158434)
2005
17
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. (12522552)
2003
18
Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome. (12700610)
2003
19
FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]. (12239712)
2002
20
Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families. (11050623)
2000
21
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]? (11078572)
2000
22
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome. (11149619)
2000
23
Behavior phenotype of FG syndrome: cognition, personality, and behavior in eleven affected boys. (11180218)
2000
24
Clinical and behavioral characteristics in FG syndrome. (10405444)
1999
25
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome. (10449643)
1999
26
Low density lipoprotein apheresis therapy for steroid-resistant nephrotic syndrome. Kansai-FGS-Apheresis Treatment (K-FLAT) Study Group. (10412754)
1999
27
FG syndrome: report of three new families with linkage to Xq12-q22.1. (9805132)
1998
28
Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998]. (9714004)
1998
29
Fragile X mutation and FG syndrome-like phenotype. (8844090)
1996
30
Early fatal course in three brothers with FG syndrome. (8829007)
1996
31
A case of FG syndrome with gingival hyperplasia and keloids. (8747594)
1995
32
FG syndrome: the trias mental retardation, hypotonia and constipation reviewed. (8775418)
1995
33
A clinical follow-up of British patients with FG syndrome. (8055129)
1994
34
Japanese kindred with FG syndrome. (7802020)
1994
35
X-linked syndrome of mental retardation, short stature, and hypertelorism: a new syndrome or a further example of the FG syndrome? (8030678)
1994
36
Language and development in FG syndrome with callosal agenesis. (7688382)
1993
37
FG syndrome update 1988: note of 5 new patients and bibliography. (3052062)
1988
38
FG syndrome. (3572995)
1987
39
FG syndrome in a Brazilian child with additional previously unreported signs. (3146296)
1986
40
Necropsy findings in a child with FG syndrome. (3746847)
1986
41
The FG syndrome: 7 new cases. (4017279)
1985
42
FG syndrome in a premature male. (6507484)
1984
43
Diagnostic definition of the FG syndrome. (6507483)
1984
44
Sensorineural deafness in the FG syndrome: report on four new cases. (6542310)
1984
45
Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome. (6682449)
1983
46
FG syndrome. (7199817)
1982
47
Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family. (7201743)
1982
48
The FG syndrome: further characterization, report of a third family, and of a sporadic case. (565138)
1977
49
Letter: The FG syndrome. (957025)
1976
50
Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. (4365204)
1974

Genetic Variations for Fg Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Fg Syndrome:

62
id Symbol AA change Variation ID SNP ID
1MED12p.Arg961TrpVAR_033112

Expression for genes affiliated with Fg Syndrome

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

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Pathways for genes affiliated with Fg Syndrome

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Compounds for genes affiliated with Fg Syndrome

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GO Terms for genes affiliated with Fg Syndrome

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16Gene Ontology
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Cellular components related to Fg Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcriptional repressor complexGO:0170539.3RCOR1, REST

Biological processes related to Fg Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1histone H4 deacetylationGO:0709339.3RCOR1, REST

Molecular functions related to Fg Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1guanylate kinase activityGO:0043859.9DLG3, CASK
2RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negativeGO:0010789.3RCOR1, REST
3protein bindingGO:0055156.3CASK, OPA1, MED12, FLNA, PRKX, IGBP1

Products for genes affiliated with Fg Syndrome

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Sources for Fg Syndrome

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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