MCID: CRN037
MIFTS: 60

Craniosynostosis malady

Genetic diseases, Rare diseases, Bone diseases categories

Aliases & Classifications for Craniosynostosis

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Aliases & Descriptions for Craniosynostosis:

Name: Craniosynostosis 30 8 42 43 10 44 22 61
Premature Closure of Cranial Sutures 8
 
Craniostenosis 42
Cso 42


Classifications:



External Ids:

Disease Ontology8 DOID:2340
MeSH33 D003398
ICD9CM27 756.0
NCIt39 C84655
ICD1025 Q75.0

Summaries for Craniosynostosis

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NINDS:43 Craniosynostosis is a birth defect of the brain characterized by the premature closure of one or more of the fibrous joints between the bones of the skull (called the cranial sutures) before brain growth is complete. Closure of a single suture is most common. In contrast to normal skull growth, in which the skull expands uniformly to accommodate the growth of the brain, premature closure of a single suture restricts the growth in that part of the skull and promotes growth in other parts of the skull where sutures remain open. This results in an abnormal shape of the skull, but does not prevent the brain from expanding to a normal volume. However, when many sutures close prematurely, the skull cannot expand to accommodate the growing brain, which leads to increased pressure within the skull and impaired development of the brain. Craniosynostosis can be gene-linked, or caused by metabolic diseases, such as rickets or an overactive thyroid. Some cases are associated with other disorders such as microcephaly (abnormally small head) and hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). The first sign of craniosynostosis is an abnormally shaped skull. Other features can include signs of increased intracranial pressure, developmental delays, or mental retardation, which are caused by constriction of the growing brain. Seizures and blindness may also occur.

MalaCards based summary: Craniosynostosis, also known as premature closure of cranial sutures, is related to craniosynostosis 3 and craniosynostosis 4. An important gene associated with Craniosynostosis is MSX2 (msh homeobox 2), and among its related pathways are FGF signaling pathway and Signaling by FGFR3 mutants. The compounds pazopanib and regorafenib have been mentioned in the context of this disorder. Affiliated tissues include skull, bone and brain, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

Disease Ontology:8 A synostosis that results in premature fusion located in skull.

NIH Rare Diseases:42 Craniosynostosis is a birth defect of the brain characterized by the premature closure of one or more of the joints between the bones of the skull (called the cranial sutures) before brain growth is complete. the first sign is an abnormally shaped skull; other features can include signs of increased intracranial pressure, developmental delays, intellectual disability, seizures, and blindness, caused by constriction of the growing brain. closure of a single suture is most common and does not prevent the brain from expanding to a normal volume. when many sutures close prematurely, the skull cannot expand to accommodate the growing brain, leading to increased pressure and impaired development of the brain. craniosynostosis can be caused by genetic mutations, certain metabolic diseases (such as rickets or an overactive thyroid) or can be associated with other disorders such as microcephaly and hydrocephalus. treatment generally consists of surgery to improve the symmetry and appearance of the head and to relieve pressure on the brain and the cranial nerves. last updated: 3/31/2011

Wikipedia:64 Craniosynostosis (from cranio, cranium; + syn, together; + ostosis relating to bone) is a condition in... more...

Related Diseases for Craniosynostosis

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Diseases in the Craniosynostosis family:

Craniosynostosis 5 Craniosynostosis 3
Craniosynostosis 4 Craniosynostosis, Type 2
Craniosynostosis, Type 1 Craniosynostosis Autosomal Dominant
Fgfr3-Related Craniosynostosis Craniosynostosis, Nonsyndromic
Msx2-Related Craniosynostosis Fgfr2-Related Craniosynostosis
Fgfr1-Related Craniosynostosis Twist1-Related Craniosynostosis

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

(show top 50)    (show all 277)
idRelated DiseaseScoreTop Affiliating Genes
1craniosynostosis 331.0TCF12
2craniosynostosis 430.9ERF
3pfeiffer syndrome30.9FGFR1, FGFR2
4osteoglophonic dysplasia30.7FGFR1
5beare-stevenson cutis gyrata syndrome30.6FGFR2
6strabismus30.6FGFR2, FGFR3
7antley-bixler syndrome30.6FGFR2
8syndactyly30.6FGFR3, FGFR2, MSX2
9crouzon syndrome30.6FGFR1, FGFR2, MSX2, FGFR3
10muenke syndrome30.6FGFR2, FGFR1, FGFR3, TWIST1
11fgfr-related craniosynostosis syndromes30.6FGFR3, FGFR1, FGFR2
12apert syndrome30.6FGFR2, FGFR3, FGFR1
13jackson-weiss syndrome30.5FGFR1, FGFR3, FGFR2
14achondroplasia30.5FGFR3, FGFR2, MSX2
15mental retardation30.5FGFR3, TWIST1, FBN1
16saethre-chotzen syndrome30.4FGFR3, FGFR1, MSX2, FGFR2, TWIST1
17acanthosis nigricans30.3FGFR3, FGFR2
18dwarfism29.9FGFR1, FGFR2, FGFR3
19synostosis29.9FGFR1, FGFR2, TWIST1, ALX4, FGFR3, MSX2
20acrocephalosyndactylia29.7TWIST1, FGFR2, MSX2, FGFR1, FGFR3
21polydactyly29.5FGFR2, ALX4
22craniosynostosis, syndromic10.6
23shprintzen-goldberg syndrome10.5
24parietal foramina 110.5MSX2
25baller-gerold syndrome10.4
26osteochondroma10.4FGFR3
27craniosynostosis, philadelphia type10.3
28craniosynostosis, type 110.3
29plagiocephaly10.3
30craniosynostosis and dental anomalies10.3
31warman mulliken hayward syndrome10.3
32ladd syndrome10.3FGFR2, FGFR3
33craniosynostosis 510.3
34carpenter syndrome10.3
35craniosynostosis, type 210.3
36papilledema10.3
37sleep apnea10.3
38genoa syndrome10.3
39herrmann opitz craniosynostosis10.3
40thanatophoric dysplasia, type i10.3FGFR3, FGFR2
41cdags syndrome10.2
42obstructive sleep apnea10.2
43chiari malformation10.2
44craniosynostosis, adelaide type10.2
45dandy-walker malformation with sagittal craniosynostosis and hydrocephalus10.2
46hunter-mcalpine syndrome10.2
47fgfr3-related craniosynostosis10.2
48prostatic hypertrophy10.2FGFR2, FGFR1
49hypogonadism10.2FGFR1
50pycnodysostosis10.2

Graphical network of the top 20 diseases related to Craniosynostosis:



Diseases related to craniosynostosis

Symptoms for Craniosynostosis

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Drugs & Therapeutics for Craniosynostosis

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Drug clinical trials:

Search ClinicalTrials for Craniosynostosis

Search NIH Clinical Center for Craniosynostosis

Genetic Tests for Craniosynostosis

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Genetic tests related to Craniosynostosis:

id Genetic test Affiliating Genes
1 Craniosynostosis Syndrome22

Anatomical Context for Craniosynostosis

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MalaCards organs/tissues related to Craniosynostosis:

31
Bone, Brain, Thyroid, Bone marrow, Eye, Heart, Kidney, Skin, Prostate

FMA organs/tissues related to Craniosynostosis:

14
Skull

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Craniosynostosis:
id TissueAnatomical CompartmentCell Relevance
1 BoneFacial SuturesFacial Presumptive Suture Cells Affected by disease
2 BoneFacial SuturesFacial Suture Cells Affected by disease
3 BoneRostral SuturesRostral Presumptive Suture Cells Affected by disease
4 BoneRostral SuturesRostral Suture Cells Affected by disease

Animal Models for Craniosynostosis or affiliated genes

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MGI Mouse Phenotypes related to Craniosynostosis:

35 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3FBN1, MSX2, FGFR2
2MP:00053779.1MSX2, FGFR2, FGFR1, FGFR3
3MP:00053679.0FBN1, FGFR3, FGFR2
4MP:00030128.8FBN1, FGFR2, FGFR1, FGFR3
5MP:00053908.5FGFR3, NELL1, MSX2, TWIST1, FGFR2, FGFR1
6MP:00053918.3FGFR1, MSX2, ALX4, FGFR2, FGFR3
7MP:00053888.3FGFR3, FBN1, NELL1, FGFR2, ALX4
8MP:00028738.3MSX2, ALX4, ERF, FGFR2, FGFR3
9MP:00053858.2FBN1, FGFR2, ERF, MSX2, TWIST1, FGFR1
10MP:00053818.1MSX2, FGFR1, ALX4, TWIST1, FGFR3, FGFR2
11MP:00053878.1TCF12, FGFR3, FGFR1, FGFR2, FBN1, MSX2
12MP:00053698.0FGFR1, FBN1, MSX2, ALX4, TWIST1, FGFR2
13MP:00053978.0TCF12, MSX2, ERF, FGFR2, FGFR3, FBN1
14MP:00107718.0FBN1, MSX2, ALX4, FGFR2, FGFR1, FGFR3
15MP:00053847.9FBN1, FGFR3, TWIST1, ERF, FGFR2, FGFR1
16MP:00053717.7MSX2, ALX4, FGFR3, TWIST1, FGFR1, FGFR2
17MP:00053807.4FGFR1, FBN1, FGFR2, ALX4, ERF, TWIST1
18MP:00053866.7ALX4, FGFR2, TWIST1, TCF12, FGFR1, FGFR3
19MP:00053826.7FGFR1, ERF, FBN1, NELL1, ALX4, TWIST1
20MP:00036316.5FBN1, MSX2, TCF12, TWIST1, ERF, FGFR2
21MP:00053786.5FBN1, FGFR3, FGFR1, FGFR2, ERF, ALX4
22MP:00107686.1FGFR3, NELL1, FBN1, TCF12, MSX2, ALX4

Publications for Craniosynostosis

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Articles related to Craniosynostosis:

(show top 50)    (show all 694)
idTitleAuthorsYear
1
Sex differences in the neurodevelopment of school-age children with and without single-suture craniosynostosis. (25899849)
2015
2
The effects of whole-vault cranioplasty versus strip craniectomy on long-term neuropsychological outcomes in sagittal craniosynostosis. (25811700)
2015
3
One-piece bone flap osteotomy using thread wire saw for fronto-orbital advancement with distraction osteogenesis in craniosynostosis. (25227170)
2014
4
Longitudinal study of the neurodevelopmental characteristics of treated and untreated nonsyndromic craniosynostosis in infancy. (23358908)
2013
5
Age at initial consultation for craniosynostosis: comparison across different patient characteristics. (23348263)
2013
6
Craniosynostosis. (22939693)
2013
7
Intraoperative management of blood loss during craniosynostosis surgery. (23384301)
2013
8
Bilateral lambdoid and posterior sagittal craniosynostosis--management, evolution, and outcome. (23689473)
2013
9
A complicated case of plagiocephaly followed by delayed craniosynostosis. (23595804)
2013
10
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome. (23303641)
2013
11
Orbital aspects following monobloc advancement in syndromic craniosynostosis. (23352809)
2013
12
Severe craniosynostosis in an infant with deletion 22q11.2 syndrome. (23239640)
2013
13
Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report. (24166674)
2013
14
Risk factors associated with craniosynostosis: a case control study. (23428561)
2012
15
No man's craniosynostosis: the arcana of sutural knowledge. (22337438)
2012
16
Craniosynostosis genetics: The mystery unfolds. (22090712)
2011
17
An evidence-based approach to craniosynostosis. (21285796)
2011
18
Split calvarial bone grafting in patients less than 1 year of age: technical note and use in craniofacial surgery for craniosynostosis. (21476034)
2011
19
IGF1R variants associated with isolated single suture craniosynostosis. (21204214)
2011
20
Syndromic craniosynostosis in a modern-age skeleton from Siena, Italy. (21959423)
2011
21
Intensive care unit course of infants and children after cranial vault reconstruction for craniosynostosis. (21906303)
2011
22
Mercedes Benz pattern craniosynostosis. (20048621)
2010
23
Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. (20683987)
2010
24
A 10-year study of skeletal stability and growth of the midface following Le Fort III advancement in syndromic craniosynostosis. (20463620)
2010
25
Health-related quality of life in children and adolescents with syndromic craniosynostosis. (20223716)
2010
26
Genetic basis of potential therapeutic strategies for craniosynostosis. (21082653)
2010
27
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding. (19530187)
2009
28
EphA4 as an effector of Twist1 in the guidance of osteogenic precursor cells during calvarial bone growth and in craniosynostosis. (19201948)
2009
29
Pediatric craniofacial surgery for craniosynostosis: Our experience and current concepts: Parts -2. (21887190)
2009
30
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. (19022412)
2009
31
Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype? (19396832)
2009
32
Single suture craniosynostosis: diagnosis and imaging. (18391496)
2008
33
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation. (18456720)
2008
34
A review and dental management of persons with craniosynostosis anomalies. (18489656)
2008
35
Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis. (17414280)
2007
36
Is non-syndromic single suture craniosynostosis purely an aesthetic problem? (17635197)
2007
37
Genetics of craniosynostosis. (17980312)
2007
38
Superelastic NiTi springs for corrective skull operations in children with craniosynostosis. (17483902)
2007
39
Cerebral salt wasting syndrome after calvarial remodeling in craniosynostosis. (16224164)
2005
40
Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity. (14613973)
2004
41
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. (11781872)
2002
42
Role of N-cadherin and protein kinase C in osteoblast gene activation induced by the S252W fibroblast growth factor receptor 2 mutation in Apert craniosynostosis. (11341328)
2001
43
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. (10696568)
2000
44
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. (9934984)
1999
45
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. (9600744)
1998
46
Occipital plagiocephaly: an epidemic of craniosynostosis? (9314744)
1997
47
Craniosynostosis and skeletal dysplasias: fibroblast growth factor receptor defects. (8834060)
1996
48
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. (8841188)
1996
49
Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter. (8014970)
1994
50
Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. (8188211)
1994

Variations for Craniosynostosis

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Expression for genes affiliated with Craniosynostosis

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Search GEO for disease gene expression data for Craniosynostosis.

Pathways for genes affiliated with Craniosynostosis

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Pathways related to Craniosynostosis according to GeneCards Suite gene sharing:

(show all 34)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6FGFR1, FGFR2
2
Show member pathways
9.6FGFR1, FGFR3
39.6FGFR1, FGFR3
4
Show member pathways
9.2FGFR2, FGFR3, FGFR1
5
Show member pathways
9.2FGFR1, FGFR2, FGFR3
6
Show member pathways
9.2FGFR1, FGFR3, FGFR2
7
Show member pathways
9.2FGFR1, FGFR3, FGFR2
89.2FGFR2, FGFR1, FGFR3
9
Show member pathways
MAPK signaling pathway36
9.2FGFR1, FGFR2, FGFR3
10
Show member pathways
9.2FGFR2, FGFR3, FGFR1
119.2FGFR2, FGFR1, FGFR3
12
Show member pathways
9.2FGFR2, FGFR3, FGFR1
13
Show member pathways
9.2FGFR2, FGFR1, FGFR3
14
Show member pathways
9.2FGFR2, FGFR3, FGFR1
15
Show member pathways
9.2FGFR3, FGFR1, FGFR2
16
Show member pathways
9.2FGFR3, FGFR1, FGFR2
17
Show member pathways
9.2FGFR3, FGFR1, FGFR2
18
Show member pathways
9.2FGFR3, FGFR1, FGFR2
19
Show member pathways
9.2FGFR3, FGFR2, FGFR1
20
Show member pathways
9.2FGFR3, FGFR1, FGFR2
21
Show member pathways
9.2FGFR3, FGFR1, FGFR2
22
Show member pathways
9.2FGFR3, FGFR2, FGFR1
239.2FGFR3, FGFR2, FGFR1
249.2FGFR3, FGFR2, FGFR1
259.2FGFR3, FGFR2, FGFR1
26
Show member pathways
9.2FGFR3, FGFR2, FGFR1
27
Show member pathways
9.2FGFR3, FGFR1, FGFR2
289.2FGFR3, FGFR1, FGFR2
29
Show member pathways
Signaling Pathways in Glioblastoma36
9.2FGFR3, FGFR2, FGFR1
30
Show member pathways
8.8FGFR3, FGFR1, FBN1, FGFR2
31
Show member pathways
8.7FGFR2, FGFR1, FGFR3, TCF12
32
Show member pathways
8.7FGFR2, FGFR1, FGFR3, TCF12
338.6FGFR1, FGFR3, FGFR2, TWIST1, MSX2
34
Show member pathways
8.3FGFR2, FBN1, TCF12, FGFR1, FGFR3

Compounds for genes affiliated with Craniosynostosis

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Compounds related to Craniosynostosis according to GeneCards Suite gene sharing:

(show all 22)
idCompoundScoreTop Affiliating Genes
1pazopanib50 1110.8FGFR1, FGFR3
2regorafenib50 1110.8FGFR1, FGFR2
3pd 161570609.6FGFR1, FGFR2, FGFR3
4su 5402609.6FGFR3, FGFR1, FGFR2
5fiin 1 hydrochloride609.6FGFR3, FGFR1, FGFR2
6su5402449.6FGFR1, FGFR2, FGFR3
7pd 17307444 6010.6FGFR2, FGFR1, FGFR3
8palifermin44 1110.5FGFR2, FGFR3, FGFR1
9ponatinib50 1110.5FGFR1, FGFR3, FGFR2
10chondroitin sulfate44 2410.5FBN1, FGFR1, FGFR2
11heparan sulfate44 2410.5FGFR2, FBN1, FGFR1
12phenylalanine449.5FGFR1, FGFR2, FGFR3
13phosphotyrosine449.4FGFR3, FGFR1, FGFR2
14paclitaxel44 50 1111.4FGFR1, TWIST1, FGFR2
15oligonucleotide449.2MSX2, FGFR1, FGFR3, FGFR2
16lysine449.1FBN1, FGFR3, FGFR1, FGFR2
17glutamate449.0FGFR3, FGFR1, FGFR2, FBN1
18estrogen448.9TWIST1, FBN1, FGFR1, FGFR2
19lipid448.8FBN1, FGFR1, FGFR2, FGFR3
20cysteine448.7FGFR3, FGFR1, FGFR2, FBN1
21tyrosine448.6FGFR2, FGFR1, FBN1, FGFR3, TWIST1
22calcium44 50 24 1111.2FGFR3, FGFR1, FGFR2, MSX2, FBN1

GO Terms for genes affiliated with Craniosynostosis

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:00160239.1FGFR2, FGFR1, FGFR3
2transcription factor complexGO:00056678.8ALX4, MSX2, TCF12
3extracellular regionGO:00055768.1FGFR3, FGFR1, FGFR2, NELL1, FBN1
4nucleusGO:00056346.6FGFR3, FGFR1, FGFR2, ERF, TWIST1, ALX4

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

(show top 50)    (show all 51)
idNameGO IDScoreTop Affiliating Genes
1cranial suture morphogenesisGO:006036310.3MSX2, TWIST1
2outflow tract septum morphogenesisGO:000314810.2FGFR2, MSX2
3endochondral bone growthGO:000341610.2MSX2, FGFR3
4lens fiber cell developmentGO:007030710.2FGFR2, FGFR3
5negative regulation of mitosisGO:004583910.2FGFR3, FGFR2
6embryonic cranial skeleton morphogenesisGO:004870110.1TWIST1, FGFR2
7odontogenesisGO:004247610.1FGFR2, TWIST1
8bone morphogenesisGO:006034910.1FGFR2, FGFR3
9cellular response to growth factor stimulusGO:007136310.1MSX2, TWIST1
10fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.1FGFR1, FGFR2
11ventricular zone neuroblast divisionGO:002184710.0FGFR1, FGFR2
12outer ear morphogenesisGO:004247310.0FGFR1, TWIST1
13osteoblast differentiationGO:000164910.0TWIST1, MSX2
14mesenchymal cell differentiationGO:004876210.0FGFR1, FGFR2
15lung-associated mesenchyme developmentGO:006048410.0FGFR1, FGFR2
16positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.0FGFR1, FGFR3
17branching involved in salivary gland morphogenesisGO:006044510.0FGFR1, FGFR2
18positive regulation of cardiac muscle cell proliferationGO:006004510.0FGFR1, FGFR2
19negative regulation of epithelial cell proliferationGO:005068010.0FGFR3, FGFR2
20skeletal system morphogenesisGO:00487059.9FGFR1, FGFR2
21positive regulation of cell cycleGO:00457879.9FGFR2, FGFR1
22midbrain developmentGO:00309019.9FGFR1, FGFR2
23positive regulation of canonical Wnt signaling pathwayGO:00902639.9FGFR2, FGFR3
24positive regulation of mesenchymal cell proliferationGO:00020539.9FGFR2, FGFR1
25positive regulation of epithelial cell proliferationGO:00506799.9TWIST1, FGFR2
26ureteric bud developmentGO:00016579.9FGFR1, FGFR2
27chondrocyte differentiationGO:00020629.9FGFR1, FGFR3
28positive regulation of osteoblast differentiationGO:00456699.8MSX2, NELL1
29positive regulation of phospholipase activityGO:00105189.7FGFR2, FGFR1, FGFR3
30positive regulation of MAPK cascadeGO:00434109.7FGFR3, FGFR2, FGFR1
31digestive tract developmentGO:00485659.7FGFR2, ALX4
32peptidyl-tyrosine phosphorylationGO:00181089.7FGFR3, FGFR1, FGFR2
33in utero embryonic developmentGO:00017019.6FGFR2, FGFR1, TWIST1
34phosphatidylinositol-mediated signalingGO:00480159.6FGFR2, FGFR1, FGFR3
35insulin receptor signaling pathwayGO:00082869.6FGFR2, FGFR1, FGFR3
36protein autophosphorylationGO:00467779.6FGFR1, FGFR3, FGFR2
37fibroblast growth factor receptor signaling pathwayGO:00085439.6FGFR1, FGFR2, FGFR3
38inner ear morphogenesisGO:00424729.6FGFR2, FGFR1
39Fc-epsilon receptor signaling pathwayGO:00380959.6FGFR3, FGFR1, FGFR2
40epidermal growth factor receptor signaling pathwayGO:00071739.6FGFR1, FGFR2, FGFR3
41MAPK cascadeGO:00001659.6FGFR1, FGFR3
42embryonic digit morphogenesisGO:00427339.6ALX4, TWIST1
43neurotrophin TRK receptor signaling pathwayGO:00480119.5FGFR1, FGFR2, FGFR3
44embryonic hindlimb morphogenesisGO:00351169.5MSX2, TWIST1, ALX4
45embryonic forelimb morphogenesisGO:00351159.5MSX2, ALX4, TWIST1
46muscle organ developmentGO:00075179.2ALX4, TCF12, TWIST1
47positive regulation of cell proliferationGO:00082849.1FGFR2, FGFR1, FGFR3
48palate developmentGO:00600219.0TWIST1, ALX4
49skeletal system developmentGO:00015018.8FBN1, ALX4, FGFR1, FGFR3
50negative regulation of transcription from RNA polymerase II promoterGO:00001228.4FGFR3, MSX2, TWIST1, ERF, FGFR2, FGFR1

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.3FGFR3, FGFR1, FGFR2
2E-box bindingGO:00708889.3TWIST1, TCF12
3fibroblast growth factor bindingGO:00171349.3FGFR3, FGFR1, FGFR2
4protein tyrosine kinase activityGO:00047139.2FGFR2, FGFR1, FGFR3
5protein heterodimerization activityGO:00469828.8TWIST1, ALX4, TCF12
6protein bindingGO:00055157.1FBN1, NELL1, TCF12, MSX2, TWIST1, FGFR2

Sources for Craniosynostosis

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet