MCID: FGF001
MIFTS: 28

Fgfr-Related Craniosynostosis Syndromes malady

Genetic diseases (common) category

Summaries for Fgfr-Related Craniosynostosis Syndromes

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MalaCards based summary: Fgfr-Related Craniosynostosis Syndromes, also known as acrocephalosyndactyly, is related to pfeiffer syndrome and craniosynostosis. 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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Fgfr-Related Craniosynostosis Syndromes, Aliases & Descriptions:

Name: Fgfr-Related Craniosynostosis Syndromes 19 20
 
Acrocephalosyndactyly 19


Classifications:

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


Related Diseases for Fgfr-Related Craniosynostosis Syndromes

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Diseases related to Fgfr-Related Craniosynostosis Syndromes via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1pfeiffer syndrome30.8FGFR1, FGFR2
2craniosynostosis30.4FGFR1, FGFR3, FGFR2
3saethre-chotzen syndrome30.4FGFR2, FGFR1, FGFR3
4apert syndrome30.2FGFR2, FGFR1, FGFR3
5jackson-weiss syndrome29.7FGFR2, FGFR1, FGFR3
6crouzon syndrome29.7FGFR1, FGFR3, FGFR2
7acrocephalosyndactylia29.7FGFR1, FGFR3, FGFR2
8craniosynostosis, syndromic10.5
9beare-stevenson cutis gyrata syndrome10.4FGFR2
10antley-bixler syndrome10.4FGFR2
11osteochondroma10.3FGFR3
12osteoglophonic dysplasia10.3FGFR1
13carpenter syndrome10.2
14summitt syndrome10.1
15achondroplasia10.1FGFR3, FGFR2
16ladd syndrome10.1FGFR3, FGFR2
17strabismus10.1FGFR3, FGFR2
18thanatophoric dysplasia, type i10.1FGFR3, FGFR2
19acanthosis nigricans10.1FGFR2, FGFR3
20syndactyly10.1FGFR2, FGFR3
21transitional cell carcinoma10.0FGFR2, FGFR3
22bladder cancer, somatic10.0FGFR2, FGFR3
23prostatic hypertrophy10.0FGFR1, FGFR2
24renal tubular dysgenesis10.0
25robinow-sorauf syndrome10.0
26spinocerebellar ataxia 510.0
27hydrocephalus10.0
28dextrocardia10.0
29imperforate anus10.0
30chylous ascites10.0
31encephalocele10.0
32mental retardation10.0
33cleft palate, isolated10.0FGFR1, FGFR2
34skin disease10.0FGFR2, FGFR3
35embryonal cancer9.9FGFR2, FGFR1
36muenke syndrome9.8FGFR2, FGFR3, FGFR1
37hypochondroplasia9.8FGFR3, FGFR2, FGFR1
38synostosis9.8FGFR2, FGFR3, FGFR1
39skeletal dysplasia multi-gene panels9.8FGFR1, FGFR3, FGFR2
40dwarfism9.8FGFR3, FGFR2, FGFR1
41developmental disabilities9.8FGFR1, FGFR3, FGFR2
42chondrosarcoma9.7FGFR1, FGFR2, FGFR3
43colorectal cancer9.7FGFR3, FGFR1, FGFR2
44melanoma9.6FGFR3, FGFR2, FGFR1
45prostate cancer9.6FGFR2, FGFR1, FGFR3
46leukemia9.5FGFR3, FGFR1, FGFR2

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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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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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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Publications for Fgfr-Related Craniosynostosis Syndromes

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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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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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Pathways related to Fgfr-Related Craniosynostosis Syndromes according to GeneCards Suite gene sharing:

(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 pathway36
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 Glioblastoma36
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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Compounds related to Fgfr-Related Craniosynostosis Syndromes according to GeneCards Suite gene sharing:

(show all 29)
idCompoundScoreTop Affiliating Genes
1pazopanib49 1210.7FGFR3, FGFR1
2imatinib43 49 1211.4FGFR1, FGFR3
3thalidomide43 49 59 1212.4FGFR2, FGFR3
4regorafenib49 1210.4FGFR2, FGFR1
5sulfate43 2410.3FGFR3, FGFR2
6chondroitin sulfate43 2410.3FGFR2, FGFR1
7suramin43 28 1211.3FGFR1, FGFR2
8bromodeoxyuridine439.2FGFR1, FGFR2
9heparan sulfate43 2410.1FGFR1, FGFR2
10agar439.0FGFR1, FGFR2
11glyceraldehyde 3-phosphate438.9FGFR1, FGFR2
12su 5402598.9FGFR3, FGFR2, FGFR1
13pd 161570598.9FGFR2, FGFR1, FGFR3
14fiin 1 hydrochloride598.9FGFR2, FGFR1, FGFR3
15su5402438.9FGFR2, FGFR1, FGFR3
16pd 17307443 599.9FGFR3, FGFR1, FGFR2
17palifermin43 129.9FGFR3, FGFR1, FGFR2
18ponatinib49 129.9FGFR2, FGFR1, FGFR3
19phenylalanine438.9FGFR3, FGFR1, FGFR2
20phosphotyrosine438.9FGFR2, FGFR1, FGFR3
21guanine43 24 1210.8FGFR3, FGFR2
22lysine438.8FGFR3, FGFR1, FGFR2
23oligonucleotide438.8FGFR2, FGFR1, FGFR3
24vegf438.8FGFR3, FGFR1, FGFR2
25threonine438.8FGFR3, FGFR1, FGFR2
26glutamate438.8FGFR3, FGFR1, FGFR2
27cysteine438.7FGFR2, FGFR1, FGFR3
28lipid438.5FGFR2, FGFR1, FGFR3
29tyrosine438.3FGFR3, FGFR1, FGFR2, RHBDF1

GO Terms for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

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Cellular components related to Fgfr-Related Craniosynostosis Syndromes according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.5FGFR3, FGFR1, FGFR2
2cytoplasmic membrane-bounded vesicleGO:00160238.4FGFR3, FGFR1, FGFR2
3integral component of plasma membraneGO:00058878.2FGFR3, FGFR1, FGFR2

Biological processes related to Fgfr-Related Craniosynostosis Syndromes according to GeneCards Suite gene sharing:

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:00900809.7FGFR3, FGFR1
2chondrocyte differentiationGO:00020629.6FGFR3, FGFR1
3lens fiber cell developmentGO:00703079.5FGFR3, FGFR2
4negative regulation of mitosisGO:00458399.5FGFR3, FGFR2
5MAPK cascadeGO:00001659.5FGFR3, FGFR1
6bone morphogenesisGO:00603499.5FGFR3, FGFR2
7fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.4FGFR1, FGFR2
8ventricular zone neuroblast divisionGO:00218479.4FGFR1, FGFR2
9mesenchymal cell differentiationGO:00487629.4FGFR1, FGFR2
10lung-associated mesenchyme developmentGO:00604849.4FGFR1, FGFR2
11cell migrationGO:00164779.4FGFR1, RHBDF1
12negative regulation of epithelial cell proliferationGO:00506809.4FGFR3, FGFR2
13branching involved in salivary gland morphogenesisGO:00604459.4FGFR1, FGFR2
14positive regulation of cardiac muscle cell proliferationGO:00600459.4FGFR1, FGFR2
15skeletal system morphogenesisGO:00487059.4FGFR2, FGFR1
16positive regulation of canonical Wnt signaling pathwayGO:00902639.4FGFR3, FGFR2
17positive regulation of cell cycleGO:00457879.4FGFR1, FGFR2
18midbrain developmentGO:00309019.3FGFR1, FGFR2
19skeletal system developmentGO:00015019.3FGFR3, FGFR1
20positive regulation of mesenchymal cell proliferationGO:00020539.3FGFR1, FGFR2
21ureteric bud developmentGO:00016579.3FGFR2, FGFR1
22positive regulation of ERK1 and ERK2 cascadeGO:00703749.2FGFR2, FGFR3
23inner ear morphogenesisGO:00424729.2FGFR1, FGFR2
24cell-cell signalingGO:00072679.1FGFR3, FGFR2
25positive regulation of phospholipase activityGO:00105188.9FGFR3, FGFR1, FGFR2
26angiogenesisGO:00015258.9FGFR2, FGFR1
27positive regulation of MAPK cascadeGO:00434108.9FGFR2, FGFR1, FGFR3
28peptidyl-tyrosine phosphorylationGO:00181088.9FGFR2, FGFR1, FGFR3
29phosphatidylinositol-mediated signalingGO:00480158.9FGFR3, FGFR1, FGFR2
30insulin receptor signaling pathwayGO:00082868.9FGFR2, FGFR1, FGFR3
31protein autophosphorylationGO:00467778.9FGFR3, FGFR1, FGFR2
32fibroblast growth factor receptor signaling pathwayGO:00085438.9FGFR2, FGFR1, FGFR3
33Fc-epsilon receptor signaling pathwayGO:00380958.9FGFR2, FGFR1, FGFR3
34epidermal growth factor receptor signaling pathwayGO:00071738.9FGFR3, FGFR1, FGFR2
35neurotrophin TRK receptor signaling pathwayGO:00480118.9FGFR2, FGFR1, FGFR3
36positive regulation of cell proliferationGO:00082848.8FGFR2, FGFR1, FGFR3
37negative regulation of transcription from RNA polymerase II promoterGO:00001228.8FGFR2, FGFR1, FGFR3
38in utero embryonic developmentGO:00017018.7FGFR1, FGFR2
39innate immune responseGO:00450878.7FGFR2, FGFR1, FGFR3

Molecular functions related to Fgfr-Related Craniosynostosis Syndromes according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:00082018.7FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:00050078.6FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:00171348.5FGFR3, FGFR1, FGFR2
4ATP bindingGO:00055248.5FGFR3, FGFR1, FGFR2
5protein tyrosine kinase activityGO:00047138.4FGFR2, 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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3CDC
13ExPASy
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
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34MESH via Orphanet
35MGI
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