MCID: FGF001
MIFTS: 32

Fgfr-Related Craniosynostosis Syndromes malady

Categories: Genetic diseases

Aliases & Classifications for Fgfr-Related Craniosynostosis Syndromes

Aliases & Descriptions for Fgfr-Related Craniosynostosis Syndromes:

Name: Fgfr-Related Craniosynostosis Syndromes 23
Fgfr-Related Craniosynostosis 24
Acrocephalosyndactyly 23

Characteristics:

GeneReviews:

23
Penetrance Fgfr-related coronal synostosis is usually autosomal dominant with reduced penetrance...

Classifications:



Summaries for Fgfr-Related Craniosynostosis Syndromes

MalaCards based summary : Fgfr-Related Craniosynostosis Syndromes, also known as fgfr-related craniosynostosis, is related to apert syndrome and robinow-sorauf syndrome, and has symptoms including short neck, obesity and hepatomegaly. An important gene associated with Fgfr-Related Craniosynostosis Syndromes is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are GAB1 signalosome and Phospholipase-C Pathway. Affiliated tissues include skin, kidney and spleen, and related phenotypes are Decreased human cytomegalovirus (HCMV) strain AD169 replication and Decreased substrate adherent cell growth

GeneReviews: NBK1455

Related Diseases for Fgfr-Related Craniosynostosis Syndromes

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

(show all 44)
id Related Disease Score Top Affiliating Genes
1 apert syndrome 32.0 FGFR1 FGFR2 FGFR3
2 robinow-sorauf syndrome 30.7 FGFR1 FGFR2 FGFR3
3 saethre-chotzen syndrome 11.5
4 pfeiffer syndrome 11.5
5 carpenter syndrome 11.0
6 summitt syndrome 10.9
7 pfeiffer syndrome type 1, 2 and 3 10.7
8 craniosynostosis 10.1
9 t cell immunodeficiency primary 10.0 FGFR1 FGFR3
10 ovarian epithelial cancer 10.0 FGFR1 FGFR3
11 early myoclonic encephalopathy 10.0 FGFR1 FGFR3
12 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.0 FGFR2 FGFR3
13 cervical spinal canal and spinal cord meningioma 10.0 FGFR2 FGFR3
14 aica-ribosiduria due to atic deficiency 9.9 FGFR2 FGFR3
15 muenke syndrome 9.9 FGFR2 FGFR3
16 lingual-facial-buccal dyskinesia 9.9 FGFR2 FGFR3
17 pkp1-related ectodermal dysplasia/skin fragility syndrome 9.9 FGFR1 FGFR2
18 pitx3-related anterior segment mesenchymal dysgenesis 9.9 FGFR1 FGFR2
19 sp7-related osteogenesis imperfecta 9.9 FGFR2 FGFR3
20 juvenile astrocytoma 9.9 FGFR1 FGFR3
21 acrofacial dysostosis, palagonia type 9.9 FGFR1 FGFR2
22 leg dermatosis 9.9 FGFR2 FGFR3
23 epidemic typhus 9.9 FGFR1 FGFR2
24 hypoparathyroidism 9.9 FGFR2 FGFR3
25 pancreatic cystadenoma 9.8 FGFR1 FGFR2
26 autosomal genetic disease 9.8 FGFR2 FGFR3
27 hartsfield syndrome 9.8 FGFR1 FGFR2 FGFR3
28 pointer syndrome 9.7 FGFR1 FGFR2 FGFR3
29 osteoglophonic dysplasia 9.7 FGFR1 FGFR2 FGFR3
30 crouzon syndrome with acanthosis nigricans 9.7 FGFR1 FGFR2 FGFR3
31 scaphocephaly, maxillary retrusion, and mental retardation 9.7 FGFR1 FGFR2 FGFR3
32 cervical cancer, somatic 9.7 FGFR1 FGFR2 FGFR3
33 thanatophoric dysplasia, type i 9.7 FGFR1 FGFR2 FGFR3
34 saddan 9.7 FGFR1 FGFR2 FGFR3
35 bone structure disease 9.7 FGFR1 FGFR2 FGFR3
36 atrophy of testis 9.7 FGFR1 FGFR2 FGFR3
37 hypogonadotropic hypogonadism 2 with or without anosmia 9.7 FGFR1 FGFR2 FGFR3
38 cutaneous leishmaniasis 9.7 FGFR1 FGFR2 FGFR3
39 renal tubular dysgenesis 9.7
40 jackson-weiss syndrome 9.7
41 crouzon syndrome 9.7
42 hydrocephalus 9.7
43 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 9.7 FGFR1 FGFR2
44 familial porphyria cutanea tarda 9.5 FGFR1 FGFR2 FGFR3 RHBDF1

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



Diseases related to Fgfr-Related Craniosynostosis Syndromes

Symptoms & Phenotypes for Fgfr-Related Craniosynostosis Syndromes

Human phenotypes related to Fgfr-Related Craniosynostosis Syndromes:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 obesity 32 HP:0001513
3 hepatomegaly 32 HP:0002240
4 thickened nuchal skin fold 32 HP:0000474
5 multicystic kidney dysplasia 32 HP:0000003
6 biliary tract abnormality 32 HP:0001080
7 turricephaly 32 HP:0000262
8 abnormality of the spleen 32 HP:0001743
9 thickened skin 32 HP:0001072
10 craniosynostosis 32 HP:0001363
11 omphalocele 32 HP:0001539
12 pulmonary hypoplasia 32 HP:0002089
13 hemangioma 32 HP:0001028

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.13 FGFR1 FGFR2 FGFR3
2 Decreased substrate adherent cell growth GR00193-A-2 8.8 FGFR2
3 Decreased substrate adherent cell growth GR00193-A-3 8.8 FGFR2 FGFR3

MGI Mouse Phenotypes related to Fgfr-Related Craniosynostosis Syndromes:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.71 FGFR1 FGFR2 FGFR3 RHBDF1
2 integument MP:0010771 9.62 FGFR1 FGFR2 FGFR3 RHBDF1
3 normal MP:0002873 9.56 FGFR1 FGFR2 FGFR3 RHBDF1
4 hearing/vestibular/ear MP:0005377 9.54 FGFR1 FGFR2 FGFR3
5 reproductive system MP:0005389 9.46 FGFR1 FGFR2 FGFR3 RHBDF1
6 skeleton MP:0005390 9.26 FGFR3 RHBDF1 FGFR1 FGFR2
7 vision/eye MP:0005391 8.92 FGFR1 FGFR2 FGFR3 RHBDF1

Drugs & Therapeutics for Fgfr-Related Craniosynostosis Syndromes

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

Genetic Tests for Fgfr-Related Craniosynostosis Syndromes

Genetic tests related to Fgfr-Related Craniosynostosis Syndromes:

id Genetic test Affiliating Genes
1 Fgfr-Related Craniosynostosis 24 FGFR3

Anatomical Context for Fgfr-Related Craniosynostosis Syndromes

MalaCards organs/tissues related to Fgfr-Related Craniosynostosis Syndromes:

39
Skin, Kidney, Spleen

Publications for Fgfr-Related Craniosynostosis Syndromes

Articles related to Fgfr-Related Craniosynostosis Syndromes:

id Title Authors Year
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

ClinVar genetic disease variations for Fgfr-Related Craniosynostosis Syndromes:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_022970.3(FGFR2): c.755C> G (p.Ser252Trp) single nucleotide variant Pathogenic/Likely pathogenic rs79184941 GRCh37 Chromosome 10, 123279677: 123279677

Expression for Fgfr-Related Craniosynostosis Syndromes

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

Pathways for Fgfr-Related Craniosynostosis Syndromes

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

(show all 34)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 FGFR1 FGFR2 FGFR3
2
Show member pathways
12.73 FGFR1 FGFR2 FGFR3
3
Show member pathways
12.71 FGFR1 FGFR2 FGFR3
4
Show member pathways
12.69 FGFR1 FGFR2 FGFR3
5
Show member pathways
12.66 FGFR1 FGFR2 FGFR3
6
Show member pathways
12.55 FGFR1 FGFR2 FGFR3
7
Show member pathways
12.54 FGFR1 FGFR2 FGFR3
8
Show member pathways
12.44 FGFR1 FGFR2 FGFR3
9
Show member pathways
12.43 FGFR1 FGFR2 FGFR3
10 12.41 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.39 FGFR1 FGFR2 FGFR3
12 12.36 FGFR1 FGFR2 FGFR3
13 12.32 FGFR1 FGFR2 FGFR3
14 12.29 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.27 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.19 FGFR1 FGFR2 FGFR3
17
Show member pathways
12.12 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.12 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.07 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.07 FGFR1 FGFR2 FGFR3
21
Show member pathways
11.94 FGFR1 FGFR2 FGFR3
22
Show member pathways
11.89 FGFR1 FGFR2 FGFR3
23
Show member pathways
11.82 FGFR1 FGFR2 FGFR3
24
Show member pathways
11.78 FGFR1 FGFR2 FGFR3
25 11.7 FGFR1 FGFR2 FGFR3
26 11.64 FGFR1 FGFR2 FGFR3
27 11.55 FGFR1 FGFR3
28 11.44 FGFR1 FGFR3
29 11.44 FGFR1 FGFR2 FGFR3
30 11.42 FGFR1 FGFR2 FGFR3
31 11.28 FGFR1 FGFR2
32 11.27 FGFR1 FGFR2 FGFR3
33 10.94 FGFR1 FGFR2 FGFR3
34 10.45 FGFR1 FGFR2 FGFR3

GO Terms for Fgfr-Related Craniosynostosis Syndromes

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

id Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 8.8 FGFR1 FGFR2 FGFR3

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

(show all 33)
id Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.83 FGFR1 FGFR2 FGFR3
2 protein phosphorylation GO:0006468 9.82 FGFR1 FGFR2 FGFR3
3 positive regulation of GTPase activity GO:0043547 9.82 FGFR1 FGFR2 FGFR3
4 positive regulation of cell proliferation GO:0008284 9.81 FGFR1 FGFR2 FGFR3
5 MAPK cascade GO:0000165 9.75 FGFR1 FGFR2 FGFR3
6 protein autophosphorylation GO:0046777 9.73 FGFR1 FGFR2 FGFR3
7 peptidyl-tyrosine phosphorylation GO:0018108 9.71 FGFR1 FGFR2 FGFR3
8 skeletal system development GO:0001501 9.66 FGFR1 FGFR3
9 lung development GO:0030324 9.65 FGFR1 FGFR2
10 phosphatidylinositol-mediated signaling GO:0048015 9.65 FGFR1 FGFR2 FGFR3
11 inner ear morphogenesis GO:0042472 9.64 FGFR1 FGFR2
12 ureteric bud development GO:0001657 9.63 FGFR1 FGFR2
13 phosphatidylinositol phosphorylation GO:0046854 9.63 FGFR1 FGFR2 FGFR3
14 skeletal system morphogenesis GO:0048705 9.62 FGFR1 FGFR2
15 chondrocyte differentiation GO:0002062 9.62 FGFR1 FGFR3
16 positive regulation of cell cycle GO:0045787 9.61 FGFR1 FGFR2
17 midbrain development GO:0030901 9.61 FGFR1 FGFR2
18 positive regulation of MAPK cascade GO:0043410 9.61 FGFR1 FGFR2 FGFR3
19 bone mineralization GO:0030282 9.6 FGFR2 FGFR3
20 bone morphogenesis GO:0060349 9.59 FGFR2 FGFR3
21 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 FGFR1 FGFR2
22 fibroblast growth factor receptor signaling pathway GO:0008543 9.58 FGFR1 FGFR2 FGFR3
23 positive regulation of cardiac muscle cell proliferation GO:0060045 9.57 FGFR1 FGFR2
24 branching involved in salivary gland morphogenesis GO:0060445 9.55 FGFR1 FGFR2
25 lung-associated mesenchyme development GO:0060484 9.52 FGFR1 FGFR2
26 mesenchymal cell differentiation GO:0048762 9.51 FGFR1 FGFR2
27 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.5 FGFR1 FGFR2 FGFR3
28 endochondral bone growth GO:0003416 9.49 FGFR2 FGFR3
29 orbitofrontal cortex development GO:0021769 9.37 FGFR1 FGFR2
30 ventricular zone neuroblast division GO:0021847 9.26 FGFR1 FGFR2
31 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.16 FGFR1 FGFR2
32 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.13 FGFR1 FGFR2 FGFR3
33 positive regulation of phospholipase activity GO:0010518 8.8 FGFR1 FGFR2 FGFR3

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

id Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.65 FGFR1 FGFR2 FGFR3
2 protein kinase activity GO:0004672 9.63 FGFR1 FGFR2 FGFR3
3 nucleotide binding GO:0000166 9.61 FGFR1 FGFR2 FGFR3
4 protein tyrosine kinase activity GO:0004713 9.58 FGFR1 FGFR2 FGFR3
5 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.54 FGFR1 FGFR2 FGFR3
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 FGFR1 FGFR2 FGFR3
7 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 FGFR1 FGFR2 FGFR3
8 1-phosphatidylinositol-3-kinase activity GO:0016303 9.33 FGFR1 FGFR2 FGFR3
9 fibroblast growth factor binding GO:0017134 9.13 FGFR1 FGFR2 FGFR3
10 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3

Sources for Fgfr-Related Craniosynostosis Syndromes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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