CSO
MCID: CRN037
MIFTS: 70

Craniosynostosis (CSO) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Eye diseases categories
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Summaries for Craniosynostosis

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8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 65Wikipedia, 47OMIM, 33MalaCards
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NINDS:44 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: Craniosynostosis, also known as premature closure of cranial sutures, is related to muenke syndrome 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:43 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:65 Craniosynostosis (from cranio, cranium; + syn, together; + ostosis relating to bone) is a condition in... more...

Description from OMIM:47 604757,182212,123100

Aliases & Classifications for Craniosynostosis

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8Disease Ontology, 43NIH Rare Diseases, 22GTR, 44NINDS, 10DISEASES, 45Novoseek, 62UMLS, 47OMIM, 35MeSH, 58SNOMED-CT, 40NCIt
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Classifications:



Aliases & Descriptions:

craniosynostosis 8 43 22 44 10 45 62
premature closure of cranial sutures 8
craniostenosis 43
cso 43


External Ids:

Disease Ontology8 DOID:2340
MeSH35 D003398
NCIt40 C84655

Related Diseases for Craniosynostosis

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17GeneCards, 18GeneDecks
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Diseases in the Craniosynostosis, Type 1 family:

craniosynostosis Fgfr3-Related Craniosynostosis
Craniosynostosis, Nonsyndromic Msx2-Related Craniosynostosis
Fgfr2-Related Craniosynostosis Fgfr1-Related Craniosynostosis
Twist1-Related Craniosynostosis Craniosynostosis, Type 2
Craniosynostosis 5 Craniosynostosis 3
Craniosynostosis 4

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

(show top 50)    (show all 251)
idRelated DiseaseScoreTop Affiliating Genes
1muenke syndrome30.5FGFR2, FGFR1, FGFR3, TWIST1
2craniosynostosis 430.5ERF
3saethre-chotzen syndrome30.4FGFR3, FGFR1, MSX2, FGFR2, TWIST1
4synostosis30.4FGFR1, FGFR2, TWIST1, ALX4, FGFR3, MSX2
5crouzon syndrome30.4FGFR1, FGFR2, MSX2, FGFR3
6fgfr-related craniosynostosis syndromes30.4FGFR3, FGFR1, FGFR2
7craniosynostosis 330.4TCF12
8mental retardation30.4FGFR3, TWIST1, FBN1
9acrocephalosyndactylia30.3FGFR2, FGFR3, FGFR1
10skeletal dysplasias30.3FGFR1, FGFR2, FGFR3
11strabismus30.3FGFR2, FGFR3
12syndactyly30.2FGFR3, FGFR2, MSX2
13jackson-weiss syndrome30.2FGFR1, FGFR3, FGFR2
14infectious mononucleosis30.2FGFR1, FGFR2
15achondroplasia30.2FGFR3, FGFR2, MSX2
16beare-stevenson cutis gyrata syndrome30.1FGFR2
17acanthosis nigricans30.0FGFR3, FGFR2
18osteoglophonic dysplasia29.9FGFR1
19enlarged parietal foramina29.8ALX4, MSX2
20cleft palate29.8TWIST1, FGFR2, FGFR1
21dwarfism29.8FGFR1, FGFR2, FGFR3
22polydactyly29.7FGFR2, ALX4
23craniosynostosis, syndromic10.5
24shprintzen-goldberg syndrome10.4
25baller-gerold syndrome10.4
26sleep apnea10.3
27genoa syndrome10.3
28plagiocephaly10.3
29craniosynostosis, type 110.3
30obstructive sleep apnea10.2
31chiari malformation10.2
32craniosynostosis, anal anomalies, and porokeratosis10.2
33craniosynostosis, type 210.2
34papilledema10.2
35craniosynostosis philadelphia type10.2
36herrmann opitz craniosynostosis10.2
37hunter-mcalpine syndrome10.2
38craniosynostosis and dental anomalies10.2
39craniosynostosis 510.2
40microcephaly10.2
41dandy-walker malformation with sagittal craniosynostosis and hydrocephalus10.2
42goldberg-shprintzen megacolon syndrome10.2
43fgfr3-related craniosynostosis10.2
44craniosynostosis - dandy-walker malformation - hydrocephalus10.2
45rickets10.1
46holoprosencephaly10.1
47brachydactyly10.1
48pycnodysostosis10.1
49hydrocephalus10.1
50michels syndrome10.1

Graphical network of the top 20 diseases related to Craniosynostosis:



Diseases related to craniosynostosis

Symptoms for Craniosynostosis

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47OMIM
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Clinical features from OMIM:

604757,182212,123100

Drugs & Therapeutics for Craniosynostosis

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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22GTR
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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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31LifeMap Discovery™, 33MalaCards, 14FMA
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MalaCards organs/tissues related to Craniosynostosis:

33
Bone, Brain, Thyroid, Prostate, Skin, Kidney, Heart, Eye, Bone marrow

FMA organs/tissues related to Craniosynostosis:

14
Skull

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

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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37MGI
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MGI Mouse Phenotypes related to Craniosynostosis:

37 (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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52PubMed
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Articles related to Craniosynostosis:

(show top 50)    (show all 635)
idTitleAuthorsYear
1
Longitudinal study of the neurodevelopmental characteristics of treated and untreated nonsyndromic craniosynostosis in infancy. (23358908)
2013
2
Age at initial consultation for craniosynostosis: comparison across different patient characteristics. (23348263)
2013
3
Craniosynostosis. (22939693)
2013
4
Intraoperative management of blood loss during craniosynostosis surgery. (23384301)
2013
5
Bilateral lambdoid and posterior sagittal craniosynostosis--management, evolution, and outcome. (23689473)
2013
6
A complicated case of plagiocephaly followed by delayed craniosynostosis. (23595804)
2013
7
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome. (23303641)
2013
8
Orbital aspects following monobloc advancement in syndromic craniosynostosis. (23352809)
2013
9
Severe craniosynostosis in an infant with deletion 22q11.2 syndrome. (23239640)
2013
10
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
11
Venous air embolism from Tisseel use during endoscopic cranial vault remodeling for craniosynostosis repair: a case report. (23746210)
2013
12
Risk factors associated with craniosynostosis: a case control study. (23428561)
2012
13
No man's craniosynostosis: the arcana of sutural knowledge. (22337438)
2012
14
Craniosynostosis genetics: The mystery unfolds. (22090712)
2011
15
An evidence-based approach to craniosynostosis. (21285796)
2011
16
Split calvarial bone grafting in patients less than 1 year of age: technical note and use in craniofacial surgery for craniosynostosis. (21476034)
2011
17
IGF1R variants associated with isolated single suture craniosynostosis. (21204214)
2011
18
Syndromic craniosynostosis in a modern-age skeleton from Siena, Italy. (21959423)
2011
19
Intensive care unit course of infants and children after cranial vault reconstruction for craniosynostosis. (21906303)
2011
20
Mercedes Benz pattern craniosynostosis. (20048621)
2010
21
Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. (20683987)
2010
22
A 10-year study of skeletal stability and growth of the midface following Le Fort III advancement in syndromic craniosynostosis. (20463620)
2010
23
Health-related quality of life in children and adolescents with syndromic craniosynostosis. (20223716)
2010
24
Genetic basis of potential therapeutic strategies for craniosynostosis. (21082653)
2010
25
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding. (19530187)
2009
26
EphA4 as an effector of Twist1 in the guidance of osteogenic precursor cells during calvarial bone growth and in craniosynostosis. (19201948)
2009
27
Pediatric craniofacial surgery for craniosynostosis: Our experience and current concepts: Parts -2. (21887190)
2009
28
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. (19022412)
2009
29
Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype? (19396832)
2009
30
Single suture craniosynostosis: diagnosis and imaging. (18391496)
2008
31
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
32
A review and dental management of persons with craniosynostosis anomalies. (18489656)
2008
33
Fibrinogen in craniosynostosis surgery. (18292409)
2008
34
Longitudinal assessment of visual development in non-syndromic craniosynostosis: a 1-year pre- and post-surgical study. (18463123)
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Craniosynostosis

Search GEO for disease gene expression data for Craniosynostosis.

Pathways for genes affiliated with Craniosynostosis

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Sources:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG, 53QIAGEN, 51PharmGKB, 61Tocris Bioscience, 54R&D Systems, 5Cell Signaling Technology, 57SinoBiological, 60Thomson Reuters
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Pathways related to Craniosynostosis according to GeneCards/GeneDecks:

(show all 34)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6FGFR1, FGFR2
2
Show member pathways
9.6FGFR1, FGFR3
39.6FGFR3, FGFR1
4
Show member pathways
9.2FGFR2, FGFR1, FGFR3
5
Show member pathways
9.2FGFR2, FGFR1, FGFR3
6
Show member pathways
9.2FGFR2, FGFR1, FGFR3
7
Show member pathways
9.2FGFR2, FGFR1, FGFR3
8
Show member pathways
9.2FGFR2, FGFR1, FGFR3
9
Show member pathways
9.2FGFR2, FGFR1, FGFR3
10
Show member pathways
9.2FGFR2, FGFR1, FGFR3
11
Show member pathways
9.2FGFR2, FGFR1, FGFR3
129.2FGFR2, FGFR1, FGFR3
13
Show member pathways
9.2FGFR2, FGFR1, FGFR3
149.2FGFR2, FGFR1, FGFR3
159.2FGFR2, FGFR1, FGFR3
16
Show member pathways
9.2FGFR3, FGFR1, FGFR2
17
Show member pathways
MAPK signaling pathway38
9.2FGFR3, FGFR1, FGFR2
18
Show member pathways
9.2FGFR3, FGFR1, FGFR2
199.2FGFR3, FGFR1, FGFR2
20
Show member pathways
9.2FGFR3, FGFR1, FGFR2
21
Show member pathways
9.2FGFR3, FGFR1, FGFR2
22
Show member pathways
9.2FGFR3, FGFR1, FGFR2
23
Show member pathways
9.2FGFR3, FGFR1, FGFR2
24
Show member pathways
Signaling Pathways in Glioblastoma38
9.2FGFR3, FGFR1, FGFR2
25
Show member pathways
9.2FGFR3, FGFR1, FGFR2
269.2FGFR3, FGFR1, FGFR2
279.2FGFR3, FGFR1, FGFR2
28
Show member pathways
9.2FGFR3, FGFR1, FGFR2
29
Show member pathways
9.2FGFR3, FGFR1, FGFR2
30
Show member pathways
8.8FGFR3, FGFR1, FGFR2, FBN1
31
Show member pathways
8.7TCF12, FGFR2, FGFR1, FGFR3
32
Show member pathways
8.7FGFR3, FGFR1, FGFR2, TCF12
338.6FGFR3, FGFR1, FGFR2, TWIST1, MSX2
34
Show member pathways
8.3FBN1, TCF12, FGFR2, FGFR1, FGFR3

Compounds for genes affiliated with Craniosynostosis

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51PharmGKB, 11DrugBank, 61Tocris Bioscience, 45Novoseek, 24HMDB
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Compounds related to Craniosynostosis according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1pazopanib51 1110.8FGFR3, FGFR1
2regorafenib51 1110.8FGFR1, FGFR2
3su 5402619.6FGFR3, FGFR2, FGFR1
4pd 161570619.6FGFR2, FGFR1, FGFR3
5fiin 1 hydrochloride619.6FGFR2, FGFR1, FGFR3
6su5402459.6FGFR2, FGFR1, FGFR3
7pd 17307445 6110.6FGFR3, FGFR1, FGFR2
8palifermin45 1110.5FGFR3, FGFR1, FGFR2
9ponatinib51 1110.5FGFR2, FGFR1, FGFR3
10chondroitin sulfate45 2410.5FGFR1, FGFR2, FBN1
11heparan sulfate45 2410.5FBN1, FGFR2, FGFR1
12phenylalanine459.5FGFR2, FGFR1, FGFR3
13phosphotyrosine459.4FGFR3, FGFR1, FGFR2
14paclitaxel45 51 1111.4TWIST1, FGFR2, FGFR1
15oligonucleotide459.2FGFR3, FGFR1, FGFR2, MSX2
16lysine459.1FGFR3, FGFR1, FGFR2, FBN1
17glutamate459.0FBN1, FGFR2, FGFR1, FGFR3
18estrogen458.9FGFR1, FGFR2, TWIST1, FBN1
19lipid458.8FGFR3, FGFR1, FGFR2, FBN1
20cysteine458.7FBN1, FGFR2, FGFR1, FGFR3
21tyrosine458.6FGFR3, FGFR1, FGFR2, TWIST1, FBN1
22calcium45 51 24 1111.2FBN1, MSX2, FGFR2, FGFR1, FGFR3

GO Terms for genes affiliated with Craniosynostosis

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16Gene Ontology
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Cellular components related to Craniosynostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160239.1FGFR3, FGFR1, FGFR2
2transcription factor complexGO:0056678.8ALX4, MSX2, TCF12
3extracellular regionGO:0055768.1FBN1, NELL1, FGFR2, FGFR1, FGFR3
4nucleusGO:0056346.6TWIST1, ERF, FGFR2, FGFR1, FGFR3, MSX2

Biological processes related to Craniosynostosis according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idNameGO IDScoreTop Affiliating Genes
1cranial suture morphogenesisGO:06036310.3MSX2, TWIST1
2outflow tract septum morphogenesisGO:00314810.2FGFR2, MSX2
3endochondral bone growthGO:00341610.2MSX2, FGFR3
4lens fiber cell developmentGO:07030710.2FGFR3, FGFR2
5negative regulation of mitosisGO:04583910.2FGFR2, FGFR3
6embryonic cranial skeleton morphogenesisGO:04870110.1TWIST1, FGFR2
7odontogenesisGO:04247610.1FGFR2, TWIST1
8bone morphogenesisGO:06034910.1FGFR3, FGFR2
9cellular response to growth factor stimulusGO:07136310.1MSX2, TWIST1
10fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.1FGFR1, FGFR2
11outer ear morphogenesisGO:04247310.0FGFR1, TWIST1
12ventricular zone neuroblast divisionGO:02184710.0FGFR2, FGFR1
13osteoblast differentiationGO:00164910.0TWIST1, MSX2
14mesenchymal cell differentiationGO:04876210.0FGFR1, FGFR2
15positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.0FGFR1, FGFR3
16lung-associated mesenchyme developmentGO:06048410.0FGFR1, FGFR2
17branching involved in salivary gland morphogenesisGO:06044510.0FGFR1, FGFR2
18positive regulation of cardiac muscle cell proliferationGO:06004510.0FGFR1, FGFR2
19negative regulation of epithelial cell proliferationGO:05068010.0FGFR3, FGFR2
20skeletal system morphogenesisGO:0487059.9FGFR2, FGFR1
21positive regulation of cell cycleGO:0457879.9FGFR1, FGFR2
22midbrain developmentGO:0309019.9FGFR1, FGFR2
23positive regulation of canonical Wnt signaling pathwayGO:0902639.9FGFR2, FGFR3
24positive regulation of mesenchymal cell proliferationGO:0020539.9FGFR1, FGFR2
25ureteric bud developmentGO:0016579.9FGFR1, FGFR2
26chondrocyte differentiationGO:0020629.9FGFR3, FGFR1
27positive regulation of osteoblast differentiationGO:0456699.8NELL1, MSX2
28positive regulation of epithelial cell proliferationGO:0506799.8FGFR2, TWIST1
29positive regulation of phospholipase activityGO:0105189.7FGFR3, FGFR1, FGFR2
30inner ear morphogenesisGO:0424729.7FGFR1, FGFR2
31positive regulation of MAPK cascadeGO:0434109.7FGFR3, FGFR1, FGFR2
32digestive tract developmentGO:0485659.7ALX4, FGFR2
33peptidyl-tyrosine phosphorylationGO:0181089.7FGFR2, FGFR1, FGFR3
34in utero embryonic developmentGO:0017019.6FGFR1, FGFR2, TWIST1
35phosphatidylinositol-mediated signalingGO:0480159.6FGFR2, FGFR1, FGFR3
36insulin receptor signaling pathwayGO:0082869.6FGFR3, FGFR1, FGFR2
37protein autophosphorylationGO:0467779.6FGFR2, FGFR1, FGFR3
38fibroblast growth factor receptor signaling pathwayGO:0085439.6FGFR3, FGFR1, FGFR2
39Fc-epsilon receptor signaling pathwayGO:0380959.6FGFR2, FGFR1, FGFR3
40epidermal growth factor receptor signaling pathwayGO:0071739.6FGFR3, FGFR1, FGFR2
41MAPK cascadeGO:0001659.6FGFR3, FGFR1
42embryonic digit morphogenesisGO:0427339.6TWIST1, ALX4
43neurotrophin TRK receptor signaling pathwayGO:0480119.5FGFR2, FGFR1, FGFR3
44embryonic hindlimb morphogenesisGO:0351169.5MSX2, ALX4, TWIST1
45embryonic forelimb morphogenesisGO:0351159.5TWIST1, ALX4, MSX2
46muscle organ developmentGO:0075179.2TWIST1, ALX4, TCF12
47positive regulation of cell proliferationGO:0082849.1FGFR2, FGFR1, FGFR3
48palate developmentGO:0600219.0TWIST1, ALX4
49skeletal system developmentGO:0015018.8FGFR3, FGFR1, ALX4, FBN1
50negative regulation of transcription from RNA polymerase II promoterGO:0001228.4MSX2, TWIST1, ERF, FGFR2, FGFR1, FGFR3

Molecular functions related to Craniosynostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:0050079.3FGFR2, FGFR3, FGFR1
2E-box bindingGO:0708889.3TWIST1, TCF12
3fibroblast growth factor bindingGO:0171349.3FGFR3, FGFR1, FGFR2
4protein tyrosine kinase activityGO:0047139.2FGFR3, FGFR2, FGFR1
5protein heterodimerization activityGO:0469828.8ALX4, TCF12, TWIST1
6protein bindingGO:0055157.1FBN1, NELL1, TCF12, MSX2, TWIST1, FGFR2

Products for genes affiliated with Craniosynostosis

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Sources for Craniosynostosis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet