MCID: FGF001
MIFTS: 30

Fgfr-Related Craniosynostosis Syndromes malady

Summaries for Fgfr-Related Craniosynostosis Syndromes

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19GeneReviews, 32MalaCards
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MalaCards: Fgfr-Related Craniosynostosis Syndromes, also known as acrocephalosyndactyly, is related to craniosynostosis and saethre-chotzen syndrome. An important gene associated with Fgfr-Related Craniosynostosis Syndromes is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are Endochondral Ossification and FGF signaling pathway. The compounds SU4984 and Regorafenib have been mentioned in the context of this disorder. Related mouse phenotypes are integument and hearing/vestibular/ear.

GeneReviews summary for craniosynostosis

Aliases & Classifications for Fgfr-Related Craniosynostosis Syndromes

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19GeneReviews, 20GeneTests
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Aliases & Descriptions:

fgfr-related craniosynostosis syndromes 19 20
acrocephalosyndactyly 19


Related Diseases for Fgfr-Related Craniosynostosis Syndromes

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17GeneCards, 18GeneDecks
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Diseases related to Fgfr-Related Craniosynostosis Syndromes via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1craniosynostosis30.6FGFR3, FGFR1, FGFR2
2saethre-chotzen syndrome30.6FGFR3, FGFR1, FGFR2
3infectious mononucleosis30.5FGFR1, FGFR2
4acrocephalosyndactylia30.3FGFR2, FGFR1, FGFR3
5jackson-weiss syndrome29.9FGFR3, FGFR1, FGFR2
6crouzon syndrome29.9FGFR2, FGFR1, FGFR3
7carpenter syndrome10.1
8summitt syndrome10.1
9osteoglophonic dysplasia10.0FGFR1
10osteochondroma10.0FGFR3
11atopy10.0FLG
12kallmann syndrome 210.0FGFR1
13beare-stevenson cutis gyrata syndrome10.0FGFR2
14kallmann syndrome10.0FGFR1
15antley-bixler syndrome10.0FGFR2
16achondroplasia10.0FGFR2, FGFR3
17syndactyly10.0FGFR3, FGFR2
18ladd syndrome10.0FGFR2, FGFR3
19thanatophoric dysplasia10.0FGFR3, FGFR2
20acanthosis nigricans10.0FGFR2, FGFR3
21bladder carcinoma10.0FGFR3, FGFR2
22strabismus10.0FGFR3, FGFR2
23transitional cell carcinoma10.0FGFR3, FGFR2
24cholesteatoma10.0FGFR2, FLG
25hepatocellular carcinoma10.0FGFR2, FGFR1
26retinoblastoma10.0FGFR2, FGFR3
27muenke syndrome10.0FGFR2, FGFR1, FGFR3
28skin disease10.0FGFR3, FGFR2, FLG
29hypochondroplasia10.0FGFR3, FGFR1, FGFR2
30skeletal dysplasias10.0FGFR3, FGFR1, FGFR2
31synostosis10.0FGFR3, FGFR1, FGFR2
32developmental disabilities10.0FGFR2, FGFR1, FGFR3
33stomach cancer10.0FGFR3, FGFR2
34dwarfism10.0FGFR3, FGFR1, FGFR2
35chondrosarcoma10.0FGFR3, FGFR1, FGFR2
36dextrocardia10.0
37imperforate anus10.0
38hydrocephalus10.0
39robinow sorauf syndrome10.0

Graphical network of the top 20 diseases related to Fgfr-Related Craniosynostosis Syndromes:



Diseases related to fgfr-related craniosynostosis syndromes

Clinical Features for Fgfr-Related Craniosynostosis Syndromes

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Drugs & Therapeutics for Fgfr-Related Craniosynostosis Syndromes

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

Search CenterWatch for Fgfr-Related Craniosynostosis Syndromes

Drug clinical trials:

Search ClinicalTrials for Fgfr-Related Craniosynostosis Syndromes

Search NIH Clinical Center for Fgfr-Related Craniosynostosis Syndromes

Search CenterWatch for Fgfr-Related Craniosynostosis Syndromes

Genetic Tests for Fgfr-Related Craniosynostosis Syndromes

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20GeneTests
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Genetic tests related to Fgfr-Related Craniosynostosis Syndromes:

id Genetic test Affiliating Genes
1 Fgfr-Related Craniosynostosis20 FGFR3

Anatomical Context for Fgfr-Related Craniosynostosis Syndromes

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Animal Models for Fgfr-Related Craniosynostosis Syndromes or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Fgfr-Related Craniosynostosis Syndromes:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.9FGFR1, FGFR2, RHBDF1
2MP:00053778.1FLG, FGFR2, FGFR1, FGFR3
3MP:00053828.1FGFR3, FGFR1, FGFR2, FLG
4MP:00053978.1FGFR3, FGFR2, RHBDF1, FLG
5MP:00053787.4FLG, RHBDF1, FGFR2, FGFR1, FGFR3
6MP:00107687.2FLG, RHBDF1, FGFR2, FGFR1, FGFR3

Publications for Fgfr-Related Craniosynostosis Syndromes

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50PubMed
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Articles related to Fgfr-Related Craniosynostosis Syndromes:

idTitleAuthorsYear
1
Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromes. (19860525)
2010
2
FGFR-Related Craniosynostosis Syndromes (20301628)
1993

Genetic Variations for Fgfr-Related Craniosynostosis Syndromes

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Expression for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

Search GEO for disease gene expression data for Fgfr-Related Craniosynostosis Syndromes.

Pathways for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

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Sources:
37NCBI BioSystems Database, 51QIAGEN, 53Reactome, 29KEGG, 49PharmGKB, 52R&D Systems, 4Cell Signaling Technology, 12EMD Millipore, 59Tocris Bioscience
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Pathways related to Fgfr-Related Craniosynostosis Syndromes according to GeneCards/GeneDecks:

(show all 40)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5FGFR3, FGFR1
29.3FGFR1, FGFR2
3
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8.9FGFR3, FGFR1, FGFR2
4
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8.9FGFR3, FGFR1, FGFR2
5
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8.9FGFR3, FGFR1, FGFR2
6
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8.9FGFR3, FGFR1, FGFR2
78.9FGFR3, FGFR1, FGFR2
8
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8.9FGFR3, FGFR1, FGFR2
9
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8.9FGFR3, FGFR1, FGFR2
10
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8.9FGFR3, FGFR1, FGFR2
118.9FGFR3, FGFR1, FGFR2
12
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8.9FGFR3, FGFR1, FGFR2
13
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8.9FGFR3, FGFR1, FGFR2
148.9FGFR3, FGFR1, FGFR2
15
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8.9FGFR3, FGFR1, FGFR2
16
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8.9FGFR3, FGFR1, FGFR2
17
Hide members
8.9FGFR3, FGFR1, FGFR2
188.9FGFR3, FGFR1, FGFR2
198.9FGFR3, FGFR1, FGFR2
20
Development FGF-family signaling
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8.9FGFR3, FGFR1, FGFR2
21
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8.9FGFR3, FGFR1, FGFR2
22
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8.9FGFR3, FGFR1, FGFR2
23
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8.9FGFR3, FGFR1, FGFR2
24
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8.9FGFR2, FGFR1, FGFR3
25
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8.9FGFR2, FGFR1, FGFR3
26
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8.9FGFR2, FGFR1, FGFR3
27
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8.9FGFR2, FGFR1, FGFR3
28
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8.9FGFR2, FGFR1, FGFR3
29
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8.9FGFR2, FGFR1, FGFR3
308.9FGFR2, FGFR1, FGFR3
318.9FGFR2, FGFR1, FGFR3
328.9FGFR2, FGFR1, FGFR3
33
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8.9FGFR2, FGFR1, FGFR3
34
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8.9FGFR2, FGFR1, FGFR3
35
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8.9FGFR2, FGFR1, FGFR3
368.9FGFR2, FGFR1, FGFR3
37
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8.9FGFR2, FGFR1, FGFR3
38
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8.9FGFR2, FGFR1, FGFR3
39
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8.9FGFR2, FGFR1, FGFR3
40
Hide members
8.9FGFR2, FGFR1, FGFR3

Compounds for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

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11DrugBank, 44Novoseek, 49PharmGKB, 59Tocris Bioscience, 24HMDB, 28IUPHAR
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Compounds related to Fgfr-Related Craniosynostosis Syndromes according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1SU4984119.6FGFR1, FGFR2
2Regorafenib119.6FGFR1, FGFR2
3thalidomide44 49 59 1112.5FGFR3, FGFR2
4chondroitin sulfate44 2410.4FGFR1, FGFR2
5su 5402599.2FGFR3, FGFR2, FGFR1
6nickel44 2410.2FGFR2, FLG
7pd 161570599.2FGFR2, FGFR1, FGFR3
8fiin 1 hydrochloride599.2FGFR2, FGFR1, FGFR3
9su5402449.2FGFR2, FGFR1, FGFR3
10pd 17307444 5910.2FGFR3, FGFR1, FGFR2
11palifermin44 1110.2FGFR2, FGFR1, FGFR3
12Ponatinib 119.2FGFR3, FGFR1, FGFR2
13phenylalanine449.2FGFR3, FGFR1, FGFR2
14phosphotyrosine449.1FGFR2, FGFR1, FGFR3
15lysine449.1FGFR3, FGFR1, FGFR2
16steroid449.0FLG, FGFR2
17suramin44 28 1111.0FGFR1, FGFR2
18latex449.0FGFR2, FLG
19bromodeoxyuridine448.8FGFR1, FGFR2, FLG
20oligonucleotide448.8FGFR3, FGFR1, FGFR2
21cysteine448.3FGFR3, FGFR1, FGFR2, FLG
22lipid448.3FLG, FGFR2, FGFR1, FGFR3
23serine448.2FLG, FGFR2, FGFR1, FGFR3
24tyrosine447.8FLG, RHBDF1, FGFR2, FGFR1, FGFR3

GO Terms for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

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16Gene Ontology
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Cellular components related to Fgfr-Related Craniosynostosis Syndromes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160238.1FGFR3, FGFR1, FGFR2, FLG

Biological processes related to Fgfr-Related Craniosynostosis Syndromes according to GeneCards/GeneDecks:

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.9FGFR3, FGFR1
2negative regulation of mitosisGO:0458399.8FGFR2, FGFR3
3lens fiber cell developmentGO:0703079.8FGFR2, FGFR3
4fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.7FGFR1, FGFR2
5chondrocyte differentiationGO:0020629.7FGFR1, FGFR3
6ventricular zone neuroblast divisionGO:0218479.7FGFR1, FGFR2
7mesenchymal cell differentiationGO:0487629.7FGFR2, FGFR1
8bone morphogenesisGO:0603499.7FGFR3, FGFR2
9lung-associated mesenchyme developmentGO:0604849.7FGFR2, FGFR1
10branching involved in salivary gland morphogenesisGO:0604459.7FGFR1, FGFR2
11positive regulation of cardiac muscle cell proliferationGO:0600459.6FGFR1, FGFR2
12positive regulation of cell cycleGO:0457879.6FGFR1, FGFR2
13skeletal system morphogenesisGO:0487059.6FGFR1, FGFR2
14midbrain developmentGO:0309019.6FGFR2, FGFR1
15positive regulation of mesenchymal cell proliferationGO:0020539.5FGFR2, FGFR1
16positive regulation of canonical Wnt receptor signaling pathwayGO:0902639.5FGFR3, FGFR2
17ureteric bud developmentGO:0016579.5FGFR1, FGFR2
18MAPK cascadeGO:0001659.5FGFR1, FGFR3
19inner ear morphogenesisGO:0424729.4FGFR1, FGFR2
20positive regulation of ERK1 and ERK2 cascadeGO:0703749.4FGFR3, FGFR2
21positive regulation of phospholipase activityGO:0105189.3FGFR3, FGFR1, FGFR2
22peptidyl-tyrosine phosphorylationGO:0181089.3FGFR3, FGFR1, FGFR2
23positive regulation of MAPK cascadeGO:0434109.3FGFR2, FGFR1, FGFR3
24phosphatidylinositol-mediated signalingGO:0480159.2FGFR3, FGFR1, FGFR2
25insulin receptor signaling pathwayGO:0082869.2FGFR3, FGFR1, FGFR2
26protein autophosphorylationGO:0467779.2FGFR2, FGFR1, FGFR3
27fibroblast growth factor receptor signaling pathwayGO:0085439.2FGFR3, FGFR1, FGFR2
28Fc-epsilon receptor signaling pathwayGO:0380959.2FGFR2, FGFR1, FGFR3
29epidermal growth factor receptor signaling pathwayGO:0071739.2FGFR3, FGFR1, FGFR2
30neurotrophin TRK receptor signaling pathwayGO:0480119.2FGFR2, FGFR1, FGFR3
31positive regulation of cell proliferationGO:0082849.0FGFR2, FGFR1, FGFR3
32negative regulation of transcription from RNA polymerase II promoterGO:0001228.8FGFR3, FGFR1, FGFR2
33innate immune responseGO:0450878.6FGFR3, FGFR1, FGFR2

Molecular functions related to Fgfr-Related Craniosynostosis Syndromes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:0047138.9FGFR3, FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050078.8FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:0171348.6FGFR3, FGFR1, FGFR2

Products for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

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Sources for Fgfr-Related Craniosynostosis Syndromes

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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
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