MCID: FGF001
MIFTS: 33

Fgfr-Related Craniosynostosis Syndromes malady

Genetic diseases (common) category
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Summaries for Fgfr-Related Craniosynostosis Syndromes

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19GeneReviews, 33MalaCards
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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 Signaling by FGFR3 mutants and Endochondral Ossification. The compounds pazopanib and imatinib have been mentioned in the context of this disorder. Related mouse phenotypes are renal/urinary system 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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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


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 44)
idRelated DiseaseScoreTop Affiliating Genes
1craniosynostosis30.6FGFR2, FGFR1, FGFR3
2saethre-chotzen syndrome30.6FGFR2, FGFR1, FGFR3
3infectious mononucleosis30.6FGFR1, FGFR2
4acrocephalosyndactylia30.3FGFR3, FGFR1, FGFR2
5jackson-weiss syndrome29.9FGFR3, FGFR1, FGFR2
6crouzon syndrome29.9FGFR2, FGFR1, FGFR3
7craniosynostosis, syndromic10.5
8carpenter syndrome10.1
9summitt syndrome10.1
10beare-stevenson cutis gyrata syndrome10.1FGFR2
11antley-bixler syndrome10.1FGFR2
12osteochondroma10.1FGFR3
13osteoglophonic dysplasia10.1FGFR1
14achondroplasia10.0FGFR3, FGFR2
15ladd syndrome10.0FGFR3, FGFR2
16strabismus10.0FGFR3, FGFR2
17thanatophoric dysplasia10.0FGFR2, FGFR3
18acanthosis nigricans10.0FGFR3, FGFR2
19syndactyly10.0FGFR2, FGFR3
20transitional cell carcinoma10.0FGFR2, FGFR3
21bladder carcinoma10.0FGFR3, FGFR2
22cleft palate10.0FGFR1, FGFR2
23skin disease10.0FGFR2, FGFR3
24dextrocardia10.0
25imperforate anus10.0
26hydrocephalus10.0
27chylous ascites10.0
28encephalocele10.0
29renal tubular dysgenesis10.0
30robinow sorauf syndrome10.0
31mental retardation10.0
32encephaloceles10.0
33embryonal cancer10.0FGFR2, FGFR1
34muenke syndrome9.9FGFR2, FGFR1, FGFR3
35hypochondroplasia9.9FGFR2, FGFR1, FGFR3
36synostosis9.9FGFR3, FGFR1, FGFR2
37skeletal dysplasias9.9FGFR3, FGFR1, FGFR2
38dwarfism9.9FGFR2, FGFR1, FGFR3
39developmental disabilities9.9FGFR3, FGFR1, FGFR2
40chondrosarcoma9.9FGFR3, FGFR1, FGFR2
41colorectal cancer9.9FGFR3, FGFR1, FGFR2
42melanoma9.9FGFR3, FGFR1, FGFR2
43prostate cancer9.9FGFR3, FGFR1, FGFR2
44leukemia9.9FGFR2, FGFR1, FGFR3

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



Diseases related to fgfr-related craniosynostosis syndromes

Symptoms for Fgfr-Related Craniosynostosis Syndromes

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Drugs & Therapeutics for Fgfr-Related Craniosynostosis Syndromes

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Fgfr-Related Craniosynostosis Syndromes

Search NIH Clinical Center 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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37MGI
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Publications for Fgfr-Related Craniosynostosis Syndromes

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52PubMed
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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

Variations for Fgfr-Related Craniosynostosis Syndromes

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Expression for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

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2BioGPS, 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:
50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 53QIAGEN, 5Cell Signaling Technology, 54R&D Systems, 51PharmGKB, 57SinoBiological, 60Thomson Reuters, 61Tocris Bioscience
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Pathways related to Fgfr-Related Craniosynostosis Syndromes according to GeneCards/GeneDecks:

(show all 44)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3FGFR3, FGFR1
29.3FGFR1, FGFR3
39.1FGFR3, FGFR2
49.0FGFR1, FGFR2
5
Show member pathways
8.5FGFR2, FGFR1, FGFR3
6
Show member pathways
8.5FGFR2, FGFR1, FGFR3
7
Show member pathways
8.5FGFR2, FGFR1, FGFR3
8
Show member pathways
8.5FGFR3, FGFR1, FGFR2
9
Show member pathways
8.5FGFR2, FGFR1, FGFR3
108.5FGFR3, FGFR1, FGFR2
11
Show member pathways
8.5FGFR2, FGFR1, FGFR3
12
Show member pathways
8.5FGFR2, FGFR1, FGFR3
13
Show member pathways
8.5FGFR2, FGFR1, FGFR3
14
Show member pathways
8.5FGFR3, FGFR1, FGFR2
15
Show member pathways
8.5FGFR2, FGFR1, FGFR3
168.5FGFR3, FGFR1, FGFR2
17
Show member pathways
8.5FGFR3, FGFR1, FGFR2
18
Show member pathways
8.5FGFR3, FGFR1, FGFR2
198.5FGFR3, FGFR1, FGFR2
20
Show member pathways
8.5FGFR2, FGFR1, FGFR3
21
Show member pathways
8.5FGFR2, FGFR1, FGFR3
22
Show member pathways
8.5FGFR3, FGFR1, FGFR2
23
Show member pathways
8.5FGFR2, FGFR1, FGFR3
248.5FGFR3, FGFR1, FGFR2
258.5FGFR3, FGFR1, FGFR2
268.5FGFR2, FGFR1, FGFR3
27
Show member pathways
8.5FGFR3, FGFR1, FGFR2
288.5FGFR2, FGFR1, FGFR3
29
Show member pathways
8.5FGFR3, FGFR1, FGFR2
30
Show member pathways
8.5FGFR3, FGFR1, FGFR2
31
Show member pathways
8.5FGFR2, FGFR1, FGFR3
32
Show member pathways
8.5FGFR3, FGFR1, FGFR2
33
Show member pathways
8.5FGFR2, FGFR1, FGFR3
34
Show member pathways
8.5FGFR3, FGFR1, FGFR2
35
Show member pathways
8.5FGFR2, FGFR1, FGFR3
36
Show member pathways
MAPK signaling pathway38
8.5FGFR3, FGFR1, FGFR2
37
Show member pathways
8.5FGFR3, FGFR1, FGFR2
388.5FGFR3, FGFR1, FGFR2
39
Show member pathways
8.5FGFR3, FGFR1, FGFR2
40
Show member pathways
8.5FGFR2, FGFR1, FGFR3
41
Show member pathways
Signaling Pathways in Glioblastoma38
8.5FGFR3, FGFR1, FGFR2
42
Show member pathways
8.5FGFR2, FGFR1, FGFR3
43
Show member pathways
8.5FGFR3, FGFR1, FGFR2
44
Show member pathways
8.5FGFR3, FGFR1, FGFR2

Compounds for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

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Sources:
51PharmGKB, 11DrugBank, 45Novoseek, 61Tocris Bioscience, 24HMDB, 29IUPHAR
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Compounds related to Fgfr-Related Craniosynostosis Syndromes according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1pazopanib51 1110.7FGFR3, FGFR1
2imatinib45 51 1111.4FGFR1, FGFR3
3thalidomide45 51 61 1112.4FGFR2, FGFR3
4regorafenib51 1110.4FGFR2, FGFR1
5sulfate45 2410.3FGFR3, FGFR2
6chondroitin sulfate45 2410.3FGFR2, FGFR1
7suramin45 29 1111.3FGFR1, FGFR2
8bromodeoxyuridine459.2FGFR1, FGFR2
9heparan sulfate45 2410.1FGFR1, FGFR2
10agar459.0FGFR1, FGFR2
11glyceraldehyde 3-phosphate458.9FGFR1, FGFR2
12su 5402618.9FGFR3, FGFR2, FGFR1
13pd 161570618.9FGFR2, FGFR1, FGFR3
14fiin 1 hydrochloride618.9FGFR2, FGFR1, FGFR3
15su5402458.9FGFR2, FGFR1, FGFR3
16pd 17307445 619.9FGFR3, FGFR1, FGFR2
17palifermin45 119.9FGFR3, FGFR1, FGFR2
18ponatinib51 119.9FGFR2, FGFR1, FGFR3
19phenylalanine458.9FGFR3, FGFR1, FGFR2
20phosphotyrosine458.9FGFR2, FGFR1, FGFR3
21guanine45 24 1110.8FGFR3, FGFR2
22lysine458.8FGFR3, FGFR1, FGFR2
23oligonucleotide458.8FGFR2, FGFR1, FGFR3
24vegf458.8FGFR3, FGFR1, FGFR2
25threonine458.8FGFR3, FGFR1, FGFR2
26glutamate458.8FGFR3, FGFR1, FGFR2
27cysteine458.7FGFR2, FGFR1, FGFR3
28lipid458.5FGFR2, FGFR1, FGFR3
29tyrosine458.3FGFR3, FGFR1, FGFR2, RHBDF1

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
1extracellular regionGO:0055768.5FGFR3, FGFR1, FGFR2
2cytoplasmic membrane-bounded vesicleGO:0160238.4FGFR3, FGFR1, FGFR2
3integral component of plasma membraneGO:0058878.2FGFR3, FGFR1, FGFR2

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

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.7FGFR3, FGFR1
2chondrocyte differentiationGO:0020629.6FGFR3, FGFR1
3lens fiber cell developmentGO:0703079.5FGFR3, FGFR2
4negative regulation of mitosisGO:0458399.5FGFR3, FGFR2
5MAPK cascadeGO:0001659.5FGFR3, FGFR1
6bone morphogenesisGO:0603499.5FGFR3, FGFR2
7fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.4FGFR1, FGFR2
8ventricular zone neuroblast divisionGO:0218479.4FGFR1, FGFR2
9mesenchymal cell differentiationGO:0487629.4FGFR1, FGFR2
10lung-associated mesenchyme developmentGO:0604849.4FGFR1, FGFR2
11cell migrationGO:0164779.4FGFR1, RHBDF1
12negative regulation of epithelial cell proliferationGO:0506809.4FGFR3, FGFR2
13branching involved in salivary gland morphogenesisGO:0604459.4FGFR1, FGFR2
14positive regulation of cardiac muscle cell proliferationGO:0600459.4FGFR1, FGFR2
15skeletal system morphogenesisGO:0487059.4FGFR2, FGFR1
16positive regulation of canonical Wnt signaling pathwayGO:0902639.4FGFR3, FGFR2
17positive regulation of cell cycleGO:0457879.4FGFR1, FGFR2
18midbrain developmentGO:0309019.3FGFR1, FGFR2
19skeletal system developmentGO:0015019.3FGFR3, FGFR1
20positive regulation of mesenchymal cell proliferationGO:0020539.3FGFR1, FGFR2
21ureteric bud developmentGO:0016579.3FGFR2, FGFR1
22positive regulation of ERK1 and ERK2 cascadeGO:0703749.2FGFR2, FGFR3
23inner ear morphogenesisGO:0424729.2FGFR1, FGFR2
24cell-cell signalingGO:0072679.1FGFR3, FGFR2
25positive regulation of phospholipase activityGO:0105188.9FGFR3, FGFR1, FGFR2
26angiogenesisGO:0015258.9FGFR2, FGFR1
27positive regulation of MAPK cascadeGO:0434108.9FGFR2, FGFR1, FGFR3
28peptidyl-tyrosine phosphorylationGO:0181088.9FGFR2, FGFR1, FGFR3
29phosphatidylinositol-mediated signalingGO:0480158.9FGFR3, FGFR1, FGFR2
30insulin receptor signaling pathwayGO:0082868.9FGFR2, FGFR1, FGFR3
31protein autophosphorylationGO:0467778.9FGFR3, FGFR1, FGFR2
32fibroblast growth factor receptor signaling pathwayGO:0085438.9FGFR2, FGFR1, FGFR3
33Fc-epsilon receptor signaling pathwayGO:0380958.9FGFR2, FGFR1, FGFR3
34epidermal growth factor receptor signaling pathwayGO:0071738.9FGFR3, FGFR1, FGFR2
35neurotrophin TRK receptor signaling pathwayGO:0480118.9FGFR2, FGFR1, FGFR3
36positive regulation of cell proliferationGO:0082848.8FGFR2, FGFR1, FGFR3
37negative regulation of transcription from RNA polymerase II promoterGO:0001228.8FGFR2, FGFR1, FGFR3
38in utero embryonic developmentGO:0017018.7FGFR1, FGFR2
39innate immune responseGO:0450878.7FGFR2, FGFR1, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082018.7FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050078.6FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:0171348.5FGFR3, FGFR1, FGFR2
4ATP bindingGO:0055248.5FGFR3, FGFR1, FGFR2
5protein tyrosine kinase activityGO:0047138.4FGFR2, FGFR1, FGFR3

Products for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

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Sources for Fgfr-Related Craniosynostosis Syndromes

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet