MCID: CRN037
MIFTS: 60

Craniosynostosis malady

Genetic diseases, Rare diseases, Bone diseases categories

Aliases & Classifications for Craniosynostosis

About this section

Craniosynostosis, Aliases & Descriptions:

Name: Craniosynostosis 30 9 41 42 11 43 22 60
Premature Closure of Cranial Sutures 9
 
Craniostenosis 41
Cso 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases


External Ids:

Disease Ontology9 DOID:2340
MeSH33 D003398
ICD9CM27 756.0
NCIt38 C84655
ICD1025 Q75.0

Summaries for Craniosynostosis

About this section


NINDS:42 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:9 A synostosis that results in premature fusion located in skull.

NIH Rare Diseases:41 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:63 Craniosynostosis (from cranio, cranium; + syn, together; + ostosis relating to bone) is a condition in... more...

Related Diseases for Craniosynostosis

About this section

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

About this section

Drugs & Therapeutics for Craniosynostosis

About this section

Drug clinical trials:

Search ClinicalTrials for Craniosynostosis

Search NIH Clinical Center for Craniosynostosis

Genetic Tests for Craniosynostosis

About this section

Genetic tests related to Craniosynostosis:

id Genetic test Affiliating Genes
1 Craniosynostosis Syndrome22

Anatomical Context for Craniosynostosis

About this section

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

About this section

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:00053679.0FGFR3, FGFR2, FBN1
4MP:00030128.8FGFR3, FGFR1, FGFR2, FBN1
5MP:00053908.5NELL1, MSX2, TWIST1, FGFR2, FGFR1, FGFR3
6MP:00053918.3MSX2, ALX4, FGFR2, FGFR1, FGFR3
7MP:00053888.3FBN1, NELL1, ALX4, FGFR2, FGFR3
8MP:00028738.3MSX2, ALX4, ERF, FGFR2, FGFR3
9MP:00053858.2FBN1, MSX2, TWIST1, ERF, FGFR2, FGFR1
10MP:00053818.1MSX2, ALX4, TWIST1, FGFR2, FGFR1, FGFR3
11MP:00053878.1FBN1, TCF12, MSX2, FGFR2, FGFR1, FGFR3
12MP:00053698.0FBN1, MSX2, ALX4, TWIST1, FGFR2, FGFR1
13MP:00053978.0FBN1, TCF12, MSX2, ERF, FGFR2, FGFR3
14MP:00107718.0FBN1, MSX2, ALX4, FGFR2, FGFR1, FGFR3
15MP:00053847.9FBN1, TWIST1, ERF, FGFR2, FGFR1, FGFR3
16MP:00053717.7FBN1, MSX2, ALX4, TWIST1, FGFR2, FGFR1
17MP:00053807.4FBN1, MSX2, ALX4, TWIST1, ERF, FGFR2
18MP:00053866.7FBN1, NELL1, TCF12, MSX2, ALX4, TWIST1
19MP:00053826.7FGFR3, FBN1, NELL1, MSX2, ALX4, TWIST1
20MP:00036316.5FBN1, TCF12, MSX2, ALX4, TWIST1, ERF
21MP:00053786.5FBN1, TCF12, MSX2, ALX4, TWIST1, ERF
22MP:00107686.1FBN1, NELL1, TCF12, MSX2, ALX4, TWIST1

Publications for Craniosynostosis

About this section

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

About this section

Expression for genes affiliated with Craniosynostosis

About this section
Search GEO for disease gene expression data for Craniosynostosis.

Pathways for genes affiliated with Craniosynostosis

About this section

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
39.6FGFR3, 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 pathway36
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 Glioblastoma36
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

About this section

Compounds related to Craniosynostosis according to GeneCards Suite gene sharing:

(show all 22)
idCompoundScoreTop Affiliating Genes
1pazopanib49 1210.8FGFR3, FGFR1
2regorafenib49 1210.8FGFR1, FGFR2
3su 5402599.6FGFR3, FGFR2, FGFR1
4pd 161570599.6FGFR2, FGFR1, FGFR3
5fiin 1 hydrochloride599.6FGFR2, FGFR1, FGFR3
6su5402439.6FGFR2, FGFR1, FGFR3
7pd 17307443 5910.6FGFR3, FGFR1, FGFR2
8palifermin43 1210.5FGFR3, FGFR1, FGFR2
9ponatinib49 1210.5FGFR2, FGFR1, FGFR3
10chondroitin sulfate43 2410.5FGFR1, FGFR2, FBN1
11heparan sulfate43 2410.5FBN1, FGFR2, FGFR1
12phenylalanine439.5FGFR2, FGFR1, FGFR3
13phosphotyrosine439.4FGFR3, FGFR1, FGFR2
14paclitaxel43 49 1211.4TWIST1, FGFR2, FGFR1
15oligonucleotide439.2FGFR3, FGFR1, FGFR2, MSX2
16lysine439.1FGFR3, FGFR1, FGFR2, FBN1
17glutamate439.0FBN1, FGFR2, FGFR1, FGFR3
18estrogen438.9FGFR1, FGFR2, TWIST1, FBN1
19lipid438.8FGFR3, FGFR1, FGFR2, FBN1
20cysteine438.7FBN1, FGFR2, FGFR1, FGFR3
21tyrosine438.6FGFR3, FGFR1, FGFR2, TWIST1, FBN1
22calcium43 49 24 1211.2FBN1, MSX2, FGFR2, FGFR1, FGFR3

GO Terms for genes affiliated with Craniosynostosis

About this section

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:007030710.2FGFR3, FGFR2
5negative regulation of mitosisGO:004583910.2FGFR2, FGFR3
6embryonic cranial skeleton morphogenesisGO:004870110.1TWIST1, FGFR2
7odontogenesisGO:004247610.1FGFR2, TWIST1
8bone morphogenesisGO:006034910.1FGFR3, FGFR2
9cellular response to growth factor stimulusGO:007136310.1MSX2, TWIST1
10fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.1FGFR1, FGFR2
11outer ear morphogenesisGO:004247310.0FGFR1, TWIST1
12ventricular zone neuroblast divisionGO:002184710.0FGFR2, FGFR1
13osteoblast differentiationGO:000164910.0TWIST1, MSX2
14mesenchymal cell differentiationGO:004876210.0FGFR1, FGFR2
15positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.0FGFR1, FGFR3
16lung-associated mesenchyme developmentGO:006048410.0FGFR1, FGFR2
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:00487059.9FGFR2, FGFR1
21positive regulation of cell cycleGO:00457879.9FGFR1, FGFR2
22midbrain developmentGO:00309019.9FGFR1, FGFR2
23positive regulation of canonical Wnt signaling pathwayGO:00902639.9FGFR2, FGFR3
24positive regulation of mesenchymal cell proliferationGO:00020539.9FGFR1, FGFR2
25ureteric bud developmentGO:00016579.9FGFR1, FGFR2
26chondrocyte differentiationGO:00020629.9FGFR3, FGFR1
27positive regulation of osteoblast differentiationGO:00456699.8NELL1, MSX2
28positive regulation of epithelial cell proliferationGO:00506799.8FGFR2, TWIST1
29positive regulation of phospholipase activityGO:00105189.7FGFR3, FGFR1, FGFR2
30inner ear morphogenesisGO:00424729.7FGFR1, FGFR2
31positive regulation of MAPK cascadeGO:00434109.7FGFR3, FGFR1, FGFR2
32digestive tract developmentGO:00485659.7ALX4, FGFR2
33peptidyl-tyrosine phosphorylationGO:00181089.7FGFR2, FGFR1, FGFR3
34in utero embryonic developmentGO:00017019.6FGFR1, FGFR2, TWIST1
35phosphatidylinositol-mediated signalingGO:00480159.6FGFR2, FGFR1, FGFR3
36insulin receptor signaling pathwayGO:00082869.6FGFR3, FGFR1, FGFR2
37protein autophosphorylationGO:00467779.6FGFR2, FGFR1, FGFR3
38fibroblast growth factor receptor signaling pathwayGO:00085439.6FGFR3, FGFR1, FGFR2
39Fc-epsilon receptor signaling pathwayGO:00380959.6FGFR2, FGFR1, FGFR3
40epidermal growth factor receptor signaling pathwayGO:00071739.6FGFR3, FGFR1, FGFR2
41MAPK cascadeGO:00001659.6FGFR3, FGFR1
42embryonic digit morphogenesisGO:00427339.6TWIST1, ALX4
43neurotrophin TRK receptor signaling pathwayGO:00480119.5FGFR2, FGFR1, FGFR3
44embryonic hindlimb morphogenesisGO:00351169.5MSX2, ALX4, TWIST1
45embryonic forelimb morphogenesisGO:00351159.5TWIST1, ALX4, MSX2
46muscle organ developmentGO:00075179.2TWIST1, ALX4, TCF12
47positive regulation of cell proliferationGO:00082849.1FGFR2, FGFR1, FGFR3
48palate developmentGO:00600219.0TWIST1, ALX4
49skeletal system developmentGO:00015018.8FGFR3, FGFR1, ALX4, FBN1
50negative regulation of transcription from RNA polymerase II promoterGO:00001228.4MSX2, TWIST1, ERF, FGFR2, FGFR1, FGFR3

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

Products for genes affiliated with Craniosynostosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Craniosynostosis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet