MCID: FGF014
MIFTS: 27

Fgfr Craniosynostosis Syndromes

Aliases & Classifications for Fgfr Craniosynostosis Syndromes

MalaCards integrated aliases for Fgfr Craniosynostosis Syndromes:

Name: Fgfr Craniosynostosis Syndromes 24
Fgfr Acrocephalosyndactyly 24

Summaries for Fgfr Craniosynostosis Syndromes

MalaCards based summary : Fgfr Craniosynostosis Syndromes, also known as fgfr acrocephalosyndactyly, is related to beare-stevenson cutis gyrata syndrome and craniosynostosis. An important gene associated with Fgfr Craniosynostosis Syndromes is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Akt Signaling. Affiliated tissues include bone, skin and testes, and related phenotypes are Decreased human cytomegalovirus (HCMV) strain AD169 replication and Decreased substrate adherent cell growth

GeneReviews: NBK1455

Related Diseases for Fgfr Craniosynostosis Syndromes

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 beare-stevenson cutis gyrata syndrome 29.7 FGFR3 FGFR2
2 craniosynostosis 29.1 FGFR3 FGFR2 FGFR1
3 muenke syndrome 29.1 FGFR3 FGFR2 FGFR1
4 jackson-weiss syndrome 29.1 FGFR3 FGFR2 FGFR1
5 apert syndrome 29.1 FGFR3 FGFR2 FGFR1
6 crouzon syndrome 29.1 FGFR3 FGFR2 FGFR1
7 pfeiffer syndrome 29.1 FGFR3 FGFR2 FGFR1
8 crouzon syndrome with acanthosis nigricans 10.1
9 bent bone dysplasia syndrome 10.1
10 synovial chondromatosis 9.9 FGFR3 FGFR1
11 osteochondroma 9.9 FGFR3 FGFR1
12 chondroblastoma 9.8 FGFR3 FGFR1
13 proteus syndrome 9.8 FGFR3 FGFR1
14 acanthosis nigricans 9.8 FGFR3 FGFR2
15 schimmelpenning-feuerstein-mims syndrome 9.8 FGFR3 FGFR1
16 hemifacial hyperplasia 9.8 FGFR3 FGFR2
17 testicular spermatocytic seminoma 9.8 FGFR3 FGFR2
18 luteoma 9.8 FGFR3 FGFR2
19 dacryocystocele 9.8 FGFR3 FGFR2
20 chronic inflammation of lacrimal passage 9.7 FGFR3 FGFR2
21 acanthoma 9.7 FGFR3 FGFR2
22 aplasia of lacrimal and salivary glands 9.7 FGFR3 FGFR2
23 giant cell glioblastoma 9.7 FGFR3 FGFR1
24 pigmentation disease 9.7 FGFR3 FGFR2
25 exophthalmos 9.7 FGFR3 FGFR2
26 carpenter syndrome 1 9.7 FGFR3 FGFR2
27 skin tag 9.7 FGFR2 FGFR1
28 choanal atresia, posterior 9.6 FGFR2 FGFR1
29 gliosarcoma 9.6 FGFR3 FGFR1
30 fibrolamellar carcinoma 9.6 FGFR2 FGFR1
31 van der woude syndrome 1 9.6 FGFR2 FGFR1
32 porokeratosis 9.5 FGFR3 FGFR2
33 ankylosis 9.5 FGFR2 FGFR1
34 cleidocranial dysplasia 9.5 FGFR2 FGFR1
35 renal hypodysplasia/aplasia 1 9.4 FGFR2 FGFR1
36 synostosis 9.4 FGFR3 FGFR2 FGFR1
37 plagiocephaly 9.4 FGFR3 FGFR2 FGFR1
38 syndromic craniosynostosis 9.3 FGFR3 FGFR2 FGFR1
39 hypertelorism, microtia, facial clefting syndrome 9.3 FGFR3 FGFR2 FGFR1
40 achondroplasia 9.3 FGFR3 FGFR2 FGFR1
41 achondroplasia, severe, with developmental delay and acanthosis nigricans 9.3 FGFR3 FGFR2 FGFR1
42 osteoglophonic dysplasia 9.3 FGFR3 FGFR2 FGFR1
43 thanatophoric dysplasia, type i 9.3 FGFR3 FGFR2 FGFR1
44 hypochondroplasia 9.3 FGFR3 FGFR2 FGFR1
45 radioulnar synostosis 9.3 FGFR3 FGFR2 FGFR1
46 lacrimoauriculodentodigital syndrome 9.3 FGFR3 FGFR2 FGFR1
47 antley-bixler syndrome 9.3 FGFR3 FGFR2 FGFR1
48 nevus, epidermal 9.3 FGFR3 FGFR2 FGFR1
49 saethre-chotzen syndrome 9.3 FGFR3 FGFR2 FGFR1
50 bone development disease 9.3 FGFR3 FGFR2 FGFR1

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



Diseases related to Fgfr Craniosynostosis Syndromes

Symptoms & Phenotypes for Fgfr Craniosynostosis Syndromes

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

26
# 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 Craniosynostosis Syndromes:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.54 FGFR1 FGFR2 FGFR3
2 digestive/alimentary MP:0005381 9.5 FGFR1 FGFR2 FGFR3
3 hearing/vestibular/ear MP:0005377 9.43 FGFR1 FGFR2 FGFR3
4 limbs/digits/tail MP:0005371 9.33 FGFR1 FGFR2 FGFR3
5 no phenotypic analysis MP:0003012 9.13 FGFR1 FGFR2 FGFR3
6 renal/urinary system MP:0005367 8.8 FGFR1 FGFR2 FGFR3

Drugs & Therapeutics for Fgfr Craniosynostosis Syndromes

Search Clinical Trials , NIH Clinical Center for Fgfr Craniosynostosis Syndromes

Genetic Tests for Fgfr Craniosynostosis Syndromes

Anatomical Context for Fgfr Craniosynostosis Syndromes

MalaCards organs/tissues related to Fgfr Craniosynostosis Syndromes:

40
Bone, Skin, Testes

Publications for Fgfr Craniosynostosis Syndromes

Articles related to Fgfr Craniosynostosis Syndromes:

(show top 50) (show all 81)
# Title Authors PMID Year
1
Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review. 24
31002276 2019
2
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2. 24
31318164 2019
3
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. 24
31016899 2019
4
Apert syndrome with congenital diaphragmatic hernia: another case report and review of the literature. 24
30672749 2019
5
A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality. 24
29915381 2019
6
Atypical Skin Manifestations in FGFR2-Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum. 24
29928180 2018
7
Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis. 24
29351036 2018
8
Pattern of Closure of Skull Base Synchondroses in Crouzon Syndrome. 24
29024761 2018
9
Long-Term Evaluation of Mandibular Growth in Children With FGFR2 Mutations. 24
28468153 2017
10
Tracheal Cartilaginous Sleeve in Syndromic Craniosynostosis: An Underrecognized Source of Significant Morbidity and Mortality. 24
28468151 2017
11
Apert syndrome: A consensus on the management of Apert hands. 24
28087285 2017
12
Tracheal cartilaginous sleeves in children with syndromic craniosynostosis. 24
27228464 2017
13
FGFR-associated craniosynostosis syndromes and gastrointestinal defects. 24
27481450 2016
14
Extensive acne in Apert syndrome. 24
27428282 2016
15
Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography. 24
27622416 2016
16
Central nervous system and cervical spine abnormalities in Apert syndrome. 24
26861132 2016
17
Transverse soft tissue distraction preceding separation of complex syndactylies. 24
26497594 2016
18
Induction of Adipogenesis by External Volume Expansion. 24
26710016 2016
19
Diaphragmatic hernia as an early ultrasound manifestation of Apert syndrome. 24
28098935 2016
20
Prenatal Imaging of Craniosynostosis Syndromes. 24
26614129 2015
21
The formation of the foramen magnum and its role in developing ventriculomegaly and Chiari I malformation in children with craniosynostosis syndromes. 24
26051848 2015
22
Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis. 24
26355968 2015
23
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. 24
26096994 2015
24
A third report of Apert syndrome in association with diaphragmatic hernia. 24
25714562 2015
25
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. 24
25251565 2014
26
Dental maturation in children with the syndrome of crouzon and apert. 24
24021057 2014
27
A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature. 24
24168007 2014
28
Analysis of midface retrusion in Crouzon and Apert syndromes. 24
25068327 2014
29
Psychosocial conditions in adults with Crouzon syndrome: a follow-up study of 31 Swedish patients. 24
24328900 2014
30
How does obstructive sleep apnoea evolve in syndromic craniosynostosis? A prospective cohort study. 24
23702437 2013
31
Normalizing facial ratios in apert syndrome patients with Le Fort II midface distraction and simultaneous zygomatic repositioning. 24
23508053 2013
32
New trends in cranio-orbital and midface distraction for craniofacial dysostosis. 24
22894998 2012
33
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 24
22387015 2012
34
Parameters of care for craniosynostosis. 24
21848431 2012
35
A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome. 24
21943124 2011
36
Congenital diaphragmatic hernia as prenatal presentation of Apert syndrome. 24
21706505 2011
37
Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature. 24
20811900 2011
38
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 24
21167467 2011
39
Intestinal malrotation in a patient with Pfeiffer syndrome type 2. 24
20509766 2010
40
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. 24
20643727 2010
41
Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes. 24
20635358 2010
42
Cleft palate in Pfeiffer syndrome. 24
19816260 2009
43
Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. 24
19610084 2009
44
Anti-acne agents attenuate FGFR2 signal transduction in acne. 24
19225542 2009
45
The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect. 24
19593369 2009
46
Pfeiffer syndrome: a treatment evaluation. 24
19407629 2009
47
Muenke syndrome with osteochondroma. 24
19097163 2009
48
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. 24
18726952 2009
49
A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations. 24
18632557 2008
50
The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis. 24
18317141 2008

Variations for Fgfr Craniosynostosis Syndromes

Expression for Fgfr Craniosynostosis Syndromes

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

Pathways for Fgfr Craniosynostosis Syndromes

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

(show all 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 FGFR3 FGFR2 FGFR1
2
Show member pathways
13.01 FGFR3 FGFR2 FGFR1
3
Show member pathways
12.97 FGFR3 FGFR2 FGFR1
4
Show member pathways
12.94 FGFR3 FGFR2 FGFR1
5
Show member pathways
12.92 FGFR3 FGFR2 FGFR1
6
Show member pathways
12.9 FGFR3 FGFR2 FGFR1
7
Show member pathways
12.78 FGFR3 FGFR2 FGFR1
8
Show member pathways
12.74 FGFR3 FGFR2 FGFR1
9
Show member pathways
12.72 FGFR3 FGFR2 FGFR1
10
Show member pathways
12.67 FGFR3 FGFR2 FGFR1
11
Show member pathways
12.64 FGFR3 FGFR2 FGFR1
12
Show member pathways
12.57 FGFR3 FGFR2 FGFR1
13
Show member pathways
12.56 FGFR3 FGFR2 FGFR1
14 12.53 FGFR3 FGFR2 FGFR1
15 12.46 FGFR3 FGFR2 FGFR1
16
Show member pathways
12.43 FGFR3 FGFR2 FGFR1
17
Show member pathways
12.42 FGFR3 FGFR2 FGFR1
18
Show member pathways
12.39 FGFR3 FGFR2 FGFR1
19 12.33 FGFR3 FGFR2 FGFR1
20
Show member pathways
12.26 FGFR3 FGFR2 FGFR1
21
Show member pathways
12.19 FGFR3 FGFR2 FGFR1
22
Show member pathways
12.18 FGFR3 FGFR2 FGFR1
23
Show member pathways
12.12 FGFR3 FGFR2 FGFR1
24
Show member pathways
12.1 FGFR3 FGFR2 FGFR1
25
Show member pathways
12.07 FGFR3 FGFR2 FGFR1
26
Show member pathways
12.07 FGFR3 FGFR2 FGFR1
27
Show member pathways
12.06 FGFR3 FGFR2 FGFR1
28
Show member pathways
11.97 FGFR3 FGFR2 FGFR1
29
Show member pathways
11.94 FGFR3 FGFR2 FGFR1
30
Show member pathways
11.92 FGFR3 FGFR2 FGFR1
31
Show member pathways
11.81 FGFR3 FGFR2 FGFR1
32 11.75 FGFR3 FGFR2 FGFR1
33 11.7 FGFR3 FGFR2 FGFR1
34 11.57 FGFR3 FGFR1
35 11.51 FGFR3 FGFR2 FGFR1
36 11.47 FGFR3 FGFR1
37 11.42 FGFR3 FGFR2 FGFR1
38 11.38 FGFR3 FGFR2 FGFR1
39 11.32 FGFR2 FGFR1
40 11.18 FGFR3 FGFR2 FGFR1
41 10.79 FGFR3 FGFR2 FGFR1
42 10.72 FGFR3 FGFR2 FGFR1
43 10.43 FGFR3 FGFR2 FGFR1

GO Terms for Fgfr Craniosynostosis Syndromes

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.33 FGFR3 FGFR2 FGFR1
2 cytoplasmic vesicle GO:0031410 9.13 FGFR3 FGFR2 FGFR1
3 receptor complex GO:0043235 8.8 FGFR3 FGFR2 FGFR1

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.83 FGFR3 FGFR2 FGFR1
2 phosphorylation GO:0016310 9.82 FGFR3 FGFR2 FGFR1
3 protein phosphorylation GO:0006468 9.81 FGFR3 FGFR2 FGFR1
4 positive regulation of cell proliferation GO:0008284 9.81 FGFR3 FGFR2 FGFR1
5 MAPK cascade GO:0000165 9.73 FGFR3 FGFR2 FGFR1
6 positive regulation of protein kinase B signaling GO:0051897 9.67 FGFR3 FGFR2 FGFR1
7 skeletal system development GO:0001501 9.66 FGFR3 FGFR1
8 lung development GO:0030324 9.65 FGFR2 FGFR1
9 inner ear morphogenesis GO:0042472 9.65 FGFR2 FGFR1
10 protein autophosphorylation GO:0046777 9.65 FGFR3 FGFR2 FGFR1
11 skeletal system morphogenesis GO:0048705 9.63 FGFR2 FGFR1
12 peptidyl-tyrosine phosphorylation GO:0018108 9.63 FGFR3 FGFR2 FGFR1
13 chondrocyte differentiation GO:0002062 9.62 FGFR3 FGFR1
14 bone mineralization GO:0030282 9.62 FGFR3 FGFR2
15 epithelial to mesenchymal transition GO:0001837 9.61 FGFR2 FGFR1
16 ureteric bud development GO:0001657 9.61 FGFR2 FGFR1
17 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.61 FGFR3 FGFR2 FGFR1
18 positive regulation of cell cycle GO:0045787 9.6 FGFR2 FGFR1
19 positive regulation of cardiac muscle cell proliferation GO:0060045 9.59 FGFR2 FGFR1
20 bone morphogenesis GO:0060349 9.58 FGFR3 FGFR2
21 midbrain development GO:0030901 9.58 FGFR2 FGFR1
22 positive regulation of MAPK cascade GO:0043410 9.58 FGFR3 FGFR2 FGFR1
23 positive regulation of mesenchymal cell proliferation GO:0002053 9.57 FGFR2 FGFR1
24 branching involved in salivary gland morphogenesis GO:0060445 9.55 FGFR2 FGFR1
25 mesenchymal cell differentiation GO:0048762 9.54 FGFR2 FGFR1
26 lung-associated mesenchyme development GO:0060484 9.52 FGFR2 FGFR1
27 endochondral bone growth GO:0003416 9.51 FGFR3 FGFR2
28 fibroblast growth factor receptor signaling pathway GO:0008543 9.43 FGFR3 FGFR2 FGFR1
29 orbitofrontal cortex development GO:0021769 9.37 FGFR2 FGFR1
30 positive regulation of kinase activity GO:0033674 9.33 FGFR3 FGFR2 FGFR1
31 ventricular zone neuroblast division GO:0021847 9.32 FGFR2 FGFR1
32 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 8.96 FGFR2 FGFR1
33 positive regulation of phospholipase activity GO:0010518 8.8 FGFR3 FGFR2 FGFR1

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.61 FGFR3 FGFR2 FGFR1
2 kinase activity GO:0016301 9.54 FGFR3 FGFR2 FGFR1
3 protein kinase activity GO:0004672 9.5 FGFR3 FGFR2 FGFR1
4 protein tyrosine kinase activity GO:0004713 9.43 FGFR3 FGFR2 FGFR1
5 heparin binding GO:0008201 9.4 FGFR2 FGFR1
6 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 FGFR3 FGFR2 FGFR1
7 fibroblast growth factor binding GO:0017134 9.13 FGFR3 FGFR2 FGFR1
8 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR3 FGFR2 FGFR1

Sources for Fgfr Craniosynostosis Syndromes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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