MCID: FGS001
MIFTS: 39

Fg Syndrome malady

Summaries for Fg Syndrome

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 bone marrow, breast and myeloid, and related mouse phenotypes are craniofacial and nervous system.

Description from OMIM:47 300422,300321,305450

Aliases & Classifications for Fg Syndrome

Sources:
8Disease Ontology, 61UMLS, 9diseasecard, 47OMIM, 49Orphanet, 57SNOMED-CT, 35MeSH, 26ICD10 via Orphanet
See all sources

Related Diseases for Fg Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Fg Syndrome:



Diseases related to fg syndrome

Clinical Features for Fg Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

300422,300321,305450

Clinical synopsis from OMIM:

305450

Drugs & Therapeutics for Fg Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Fg Syndrome

Drug clinical trials:

Search ClinicalTrials for Fg Syndrome

Search NIH Clinical Center for Fg Syndrome

Search CenterWatch for Fg Syndrome

Genetic Tests for Fg Syndrome

Anatomical Context for Fg Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Fg Syndrome:

33
Bone marrow, Breast, Myeloid, T cells, B lymphoblasts, B cells, Endothelial, Olfactory bulb

Animal Models for Fg Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Fg Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1FLNA, MED12, OPA1, CASK, RPS6KA3
2MP:00036317.7DLG3, RPS6KA3, CASK, OPA1, MED12, FLNA

Publications for Fg Syndrome

Sources:
51PubMed
See all sources

Articles related to Fg Syndrome:

(show top 50)    (show all 193)
idTitleAuthorsYear
1
FGF12 is a candidate Brugada syndrome locus. (24096171)
2013
2
A case of 8p11 myeloproliferative syndrome with BCR-FGFR1 gene fusion presenting with trilineage acute leukemia/lymphoma, successfully treated by cord blood transplantation. (23171834)
2013
3
Quantitative polymerase chain reaction detection of CEP110-FGFR1 fusion gene in a patient with 8p11 myeloproliferative syndrome. (23327291)
2013
4
FGF23 and syndromes of abnormal renal phosphate handling. (22396161)
2012
5
Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome. (23154428)
2012
6
FGFR2 molecular analysis and related clinical findings in one Chinese family with Crouzon syndrome. (22355256)
2012
7
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient. (21225389)
2011
8
B-cell acute lymphoblastic leukemia as evolution of a 8p11 myeloproliferative syndrome with t(8;22)(p11;q11) and BCR-FGFR1 fusion gene. (20594995)
2010
9
Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice. (19383940)
2009
10
Severe acute respiratory syndrome coronavirus nucleocapsid protein does not modulate transcription of the human FGL2 gene. (19423547)
2009
11
Evidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model. (18773495)
2009
12
Serum FGF21 levels are increased in obesity and are independently associated with the metabolic syndrome in humans. (18252893)
2008
13
Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations. (18160472)
2008
14
An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation. (18642369)
2008
15
Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. (18247426)
2008
16
8p11 myeloproliferative syndrome preceded by t(8;9)(p11;q33), CEP110/FGFR1 fusion transcript: morphologic, molecular, and cytogenetic characterization of myeloid neoplasms associated with eosinophilia and FGFR1 abnormality. (18295660)
2008
17
Endocardial cushion defect in a patient with Crouzon syndrome carrying a mutation in the fibroblast growth factor receptor (FGFR)-2 gene. (17850625)
2007
18
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. (17033969)
2006
19
Intracellular retention, degradation, and signaling of glycosylation- deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F. (16844695)
2006
20
Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes. (16399079)
2006
21
A biphenotypic transformation of 8p11 myeloproliferative syndrome with CEP1/FGFR1 fusion gene. (16879608)
2006
22
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). (15809997)
2005
23
Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. (16440883)
2005
24
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. (15523492)
2005
25
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. (16061565)
2005
26
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). (15605412)
2005
27
Prenatal exclusion of Crouzon syndrome by mutation analysis of FGFR2. (15916101)
2004
28
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. (12627230)
2003
29
FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis. (15041782)
2003
30
The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. (14564217)
2003
31
Mutation in the FGFR2 gene in a Taiwanese patient with Beare- Stevenson cutis gyrata syndrome. (12000365)
2002
32
Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2. (11807866)
2002
33
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. (11746040)
2001
34
A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes. (11274405)
2001
35
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene. (10945669)
2000
36
Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue. (10721717)
2000
37
FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: phenotype-genotype correlation. (10881785)
2000
38
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. (10712195)
2000
39
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). (10930571)
2000
40
Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome). (10906777)
2000
41
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. (9600744)
1998
42
Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case. (9475591)
1998
43
Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4. (9682222)
1998
44
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. (9585583)
1998
45
Genomic structure, sequence, and mapping of human FGF8 with no evidence for its role in craniosynostosis/limb defect syndromes. (9332670)
1997
46
Genomic organization of the faciogenital dysplasia (FGD1; Aarskog syndrome) gene. (9268645)
1997
47
A new case of Pfeiffer syndrome with mutation in FGFR2. (9457499)
1997
48
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. (7668257)
1995
49
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. (7719344)
1995
50
FGFR-Related Craniosynostosis Syndromes (20301628)
1993

Genetic Variations for Fg Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Fg Syndrome:

63
id Symbol AA change Variation SNP ID
1MED12p.Arg961TrpVAR_033112

Expression for genes affiliated with Fg Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Fg Syndrome

Search GEO for disease gene expression data for Fg Syndrome.

Pathways for genes affiliated with Fg Syndrome

Compounds for genes affiliated with Fg Syndrome

GO Terms for genes affiliated with Fg Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fg Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet