MCID: FGF001
MIFTS: 24

Fgfr-Related Craniosynostosis Syndromes malady

Genetic diseases (common) category

Aliases & Classifications for Fgfr-Related Craniosynostosis Syndromes

About this section

Aliases & Descriptions for Fgfr-Related Craniosynostosis Syndromes:

Name: Fgfr-Related Craniosynostosis Syndromes 21 22
 
Acrocephalosyndactyly 21


Classifications:



Summaries for Fgfr-Related Craniosynostosis Syndromes

About this section
MalaCards based summary: Fgfr-Related Craniosynostosis Syndromes, also known as acrocephalosyndactyly, is related to pfeiffer syndrome 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 FGFR3 mutant receptor activation. Related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

GeneReviews summary for craniosynostosis

Related Diseases for Fgfr-Related Craniosynostosis Syndromes

About this section

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

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1pfeiffer syndrome30.4FGFR1, FGFR2, FGFR3
2saethre-chotzen syndrome30.3FGFR1, FGFR2, FGFR3
3apert syndrome30.1FGFR1, FGFR2, FGFR3
4pfeiffer syndrome type 1, 2 and 330.0FGFR1, FGFR2
5jackson-weiss syndrome29.6FGFR1, FGFR2, FGFR3
6crouzon syndrome29.6FGFR1, FGFR2, FGFR3
7craniosynostosis10.5
8carpenter syndrome10.3
9robinow-sorauf syndrome10.2
10summitt syndrome10.2
11renal tubular dysgenesis10.0
12hydrocephalus10.0
13dextrocardia10.0
14imperforate anus10.0
15acrocephalosyndactylia10.0
16chylous ascites10.0
17encephalocele10.0
18synovial chondromatosis, familial with dwarfism10.0FGFR1, FGFR3
19osteodysplasia familial anderson type10.0FGFR1, FGFR3
20gliosarcoma10.0FGFR1, FGFR3
21spinocerebellar ataxia 59.9FGFR1, FGFR2
22grade iii astrocytoma9.9FGFR1, FGFR3
23von economo's disease9.9FGFR2, FGFR3
24beare-stevenson cutis gyrata syndrome9.9FGFR2, FGFR3
25barbiturate abuse9.9FGFR2, FGFR3
26gonococcal iridocyclitis9.9FGFR2, FGFR3
27slc16a1-related hyperinsulinism9.9FGFR2, FGFR3
28lupus erythematosus9.9FGFR1, FGFR2
29myasthenic syndrome, congenital, 2a, slow-channel9.9FGFR1, FGFR2
30multiple symmetrical lipomatosis9.8FGFR2, FGFR3
31central retinal artery occlusion9.8FGFR2, FGFR3
32syndromic intellectual disability9.8FGFR2, FGFR3
33autosomal genetic disease9.8FGFR2, FGFR3
34dystonia9.8FGFR1, FGFR2
35plagiocephaly and x-linked mental retardation9.7FGFR1, FGFR2, FGFR3
36osteoglophonic dysplasia9.7FGFR1, FGFR2, FGFR3
37muenke syndrome9.7FGFR1, FGFR2, FGFR3
38neonatal abstinence syndrome9.7FGFR1, FGFR2, FGFR3
39testicular brenner tumor9.7FGFR1, FGFR2, FGFR3
40acrodermatitis9.7FGFR1, FGFR2, FGFR3
41thanatophoric dysplasia, type i9.7FGFR1, FGFR2, FGFR3
42hypochondroplasia9.7FGFR1, FGFR2, FGFR3
43yellow nail syndrome9.7FGFR1, FGFR2, FGFR3
44achondroplasia9.7FGFR1, FGFR2, FGFR3
45ladd syndrome9.7FGFR1, FGFR2, FGFR3
46synovitis9.7FGFR1, FGFR2, FGFR3
47bone ewing's sarcoma9.7FGFR1, FGFR2, FGFR3
48critical limb ischemia9.7FGFR1, FGFR2, FGFR3
49asphyxiating thoracic dystrophy9.7FGFR1, FGFR2
50flna-related periventricular nodular heterotopia9.5FGFR1, FGFR2, FGFR3, RHBDF1

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

About this section

Drugs & Therapeutics for Fgfr-Related Craniosynostosis Syndromes

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fgfr-Related Craniosynostosis Syndromes

Genetic Tests for Fgfr-Related Craniosynostosis Syndromes

About this section

Genetic tests related to Fgfr-Related Craniosynostosis Syndromes:

id Genetic test Affiliating Genes
1 Fgfr-Related Craniosynostosis22 FGFR3

Anatomical Context for Fgfr-Related Craniosynostosis Syndromes

About this section

Animal Models for Fgfr-Related Craniosynostosis Syndromes or affiliated genes

About this section

MGI Mouse Phenotypes related to Fgfr-Related Craniosynostosis Syndromes:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9FGFR1, FGFR2, FGFR3
2MP:00053718.9FGFR1, FGFR2, FGFR3
3MP:00053818.2FGFR1, FGFR2, FGFR3, RHBDF1
4MP:00107718.2FGFR1, FGFR2, FGFR3, RHBDF1
5MP:00053868.1FGFR1, FGFR2, FGFR3, RHBDF1
6MP:00053877.7FGFR1, FGFR2, FGFR3, RHBDF1

Publications for Fgfr-Related Craniosynostosis Syndromes

About this section

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

About this section

Expression for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

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

Pathways for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

About this section

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

(show all 30)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4FGFR1, FGFR3
2
Show member pathways
9.1FGFR2, FGFR3
39.1FGFR1, FGFR2
48.6FGFR1, FGFR2, FGFR3
5
Show member pathways
8.6FGFR1, FGFR2, FGFR3
68.6FGFR1, FGFR2, FGFR3
78.6FGFR1, FGFR2, FGFR3
8
Show member pathways
8.6FGFR1, FGFR2, FGFR3
9
Show member pathways
8.6FGFR1, FGFR2, FGFR3
10
Show member pathways
8.6FGFR1, FGFR2, FGFR3
11
Show member pathways
8.6FGFR1, FGFR2, FGFR3
12
Show member pathways
8.6FGFR1, FGFR2, FGFR3
13
Show member pathways
8.6FGFR1, FGFR2, FGFR3
14
Show member pathways
8.6FGFR1, FGFR2, FGFR3
15
Show member pathways
8.6FGFR1, FGFR2, FGFR3
16
Show member pathways
8.6FGFR1, FGFR2, FGFR3
17
Show member pathways
8.6FGFR1, FGFR2, FGFR3
188.6FGFR1, FGFR2, FGFR3
19
Angiogenesis (CST)
Show member pathways
8.6FGFR1, FGFR2, FGFR3
208.6FGFR1, FGFR2, FGFR3
218.6FGFR1, FGFR2, FGFR3
228.6FGFR1, FGFR2, FGFR3
23
Show member pathways
8.6FGFR1, FGFR2, FGFR3
248.6FGFR1, FGFR2, FGFR3
25
Show member pathways
8.6FGFR1, FGFR2, FGFR3
26
Show member pathways
8.6FGFR1, FGFR2, FGFR3
27
Show member pathways
8.6FGFR1, FGFR2, FGFR3
288.6FGFR1, FGFR2, FGFR3
29
Show member pathways
8.6FGFR1, FGFR2, FGFR3
308.6FGFR1, FGFR2, FGFR3

GO Terms for genes affiliated with Fgfr-Related Craniosynostosis Syndromes

About this section

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:00160239.1FGFR1, FGFR2

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

(show all 41)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.2FGFR1, FGFR3
2orbitofrontal cortex developmentGO:00217699.9FGFR1, FGFR2
3ventricular zone neuroblast divisionGO:00218479.9FGFR1, FGFR2
4fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.9FGFR1, FGFR2
5positive regulation of mesenchymal cell proliferationGO:00020539.8FGFR1, FGFR2
6positive regulation of cardiac muscle cell proliferationGO:00600459.8FGFR1, FGFR2
7midbrain developmentGO:00309019.8FGFR1, FGFR2
8lung-associated mesenchyme developmentGO:00604849.8FGFR1, FGFR2
9lens fiber cell developmentGO:00703079.8FGFR2, FGFR3
10negative regulation of mitotic nuclear divisionGO:00458399.8FGFR2, FGFR3
11positive regulation of cell cycleGO:00457879.8FGFR1, FGFR2
12mesenchymal cell differentiationGO:00487629.8FGFR1, FGFR2
13branching involved in salivary gland morphogenesisGO:00604459.8FGFR1, FGFR2
14chondrocyte differentiationGO:00020629.7FGFR1, FGFR3
15ureteric bud developmentGO:00016579.7FGFR1, FGFR2
16positive regulation of canonical Wnt signaling pathwayGO:00902639.7FGFR2, FGFR3
17bone morphogenesisGO:00603499.6FGFR2, FGFR3
18lung developmentGO:00303249.6FGFR1, FGFR2
19bone mineralizationGO:00302829.5FGFR2, FGFR3
20inner ear morphogenesisGO:00424729.4FGFR1, FGFR2
21skeletal system morphogenesisGO:00487059.4FGFR1, FGFR2
22positive regulation of MAPK cascadeGO:00434109.2FGFR1, FGFR2, FGFR3
23phosphatidylinositol-mediated signalingGO:00480159.2FGFR1, FGFR2, FGFR3
24positive regulation of phospholipase activityGO:00105189.2FGFR1, FGFR2, FGFR3
25protein autophosphorylationGO:00467779.1FGFR1, FGFR2, FGFR3
26positive regulation of cell proliferationGO:00082849.1FGFR1, FGFR2, FGFR3
27protein phosphorylationGO:00064689.0FGFR1, FGFR2, FGFR3
28peptidyl-tyrosine phosphorylationGO:00181089.0FGFR1, FGFR2, FGFR3
29MAPK cascadeGO:00001659.0FGFR1, FGFR2, FGFR3
30activation of MAPKK activityGO:00001869.0FGFR1, FGFR2, FGFR3
31Ras protein signal transductionGO:00072659.0FGFR1, FGFR2, FGFR3
32insulin receptor signaling pathwayGO:00082869.0FGFR1, FGFR2, FGFR3
33fibroblast growth factor receptor signaling pathwayGO:00085439.0FGFR1, FGFR2, FGFR3
34Fc-epsilon receptor signaling pathwayGO:00380959.0FGFR1, FGFR2, FGFR3
35neurotrophin TRK receptor signaling pathwayGO:00480118.9FGFR1, FGFR2, FGFR3
36epidermal growth factor receptor signaling pathwayGO:00071738.8FGFR1, FGFR2, FGFR3
37axon guidanceGO:00074118.7FGFR1, FGFR2, FGFR3
38innate immune responseGO:00450878.6FGFR1, FGFR2, FGFR3
39negative regulation of transcription from RNA polymerase II promoterGO:00001228.6FGFR1, FGFR2, FGFR3
40vascular endothelial growth factor receptor signaling pathwayGO:00480108.5FGFR1, FGFR2, FGFR3
41small GTPase mediated signal transductionGO:00072648.3FGFR1, FGFR2, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.2FGFR1, FGFR2, FGFR3
2fibroblast growth factor bindingGO:00171349.1FGFR1, FGFR2, FGFR3
3protein tyrosine kinase activityGO:00047138.6FGFR1, FGFR2, FGFR3
4protein kinase activityGO:00046728.3FGFR1, FGFR2, FGFR3

Sources for Fgfr-Related Craniosynostosis Syndromes

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet