CSO
MCID: CRN037
MIFTS: 67

Craniosynostosis (CSO) malady

Summaries for Craniosynostosis

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8Disease Ontology, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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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: Craniosynostosis, also known as premature closure of cranial sutures, is related to muenke syndrome and synostosis. An important gene associated with Craniosynostosis is MSX2 (msh homeobox 2), and among its related pathways are Alzheimers Disease Pathway and Akt Signaling Pathway . The compounds su5402 and pd 173074 have been mentioned in the context of this disorder. Affiliated tissues include skull, bone and brain, and related mouse phenotypes are limbs/digits/tail and craniofacial.

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

Description from OMIM:46 123100,604757,182212

Aliases & Classifications for Craniosynostosis

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8Disease Ontology, 42NIH Rare Diseases, 22GTR, 43NINDS, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 39NCIt, 56SNOMED-CT, 34MeSH
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Aliases & Descriptions:

craniosynostosis 8 42 22 43 10 44 60
premature closure of cranial sutures 8
craniostenosis 42
cso 42


External Ids:

Disease Ontology8 DOID:2340
NCIt39 C84655
MeSH34 D003398

Related Diseases for Craniosynostosis

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Sources:
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 247)
idRelated DiseaseScoreTop Affiliating Genes
1muenke syndrome30.6FGFR2, FGFR1, FGFR3, TWIST1
2synostosis30.5FGFR2, TWIST1, MSX2, FGFR3, FGF10, FGFR1
3baller-gerold syndrome30.5TWIST1, RECQL4
4saethre-chotzen syndrome30.4FGFR3, FGFR1, MSX2, TWIST1, FGFR2
5crouzon syndrome30.4FGFR2, FGFR1, FGFR3, FGF2, MSX2
6fgfr-related craniosynostosis syndromes30.3FGFR3, FGFR1, FGFR2
7syndactyly30.2MSX2, FGFR2, FGF8, FGFR3
8acrocephalosyndactylia30.2FGFR2, FGFR1, FGF10, FGF2, FGFR3
9jackson-weiss syndrome30.2FGFR2, FGFR3, FGFR1
10infectious mononucleosis30.1FGFR1, FGFR2
11achondroplasia30.0MSX2, FGF9, FGFR3, FGFR2
12beare-stevenson cutis gyrata syndrome30.0FGFR2
13cleft palate29.9TWIST1, FGF10, FGFR1, FGFR2
14osteoglophonic dysplasia29.6FGFR1
15cleft lip29.6EFNB1, FGF10, FGFR1
16endometrial carcinoma29.6FGFR2, FGF10
17hypospadias29.6FGFR2, FGF10, FGF8
18dwarfism29.6FGFR1, FGFR2, FGFR3
19cataract29.6RECQL4
20polydactyly29.6FGF8, FGFR2
21hypophosphatasia29.6ENPP1
22shprintzen-goldberg syndrome10.4
23craniosynostosis, type 110.2
24craniosynostosis, type 210.2
25craniosynostosis 410.2
26papilledema10.2
27genoa syndrome10.2
28hunter-mcalpine syndrome10.2
29herrmann opitz craniosynostosis10.2
30craniosynostosis and dental anomalies10.2
31craniosynostosis 510.2
32microcephaly10.1
33craniosynostosis, anal anomalies, and porokeratosis10.1
34craniosynostosis philadelphia type10.1
35dandy-walker malformation with sagittal craniosynostosis and hydrocephalus10.1
36goldberg-shprintzen megacolon syndrome10.1
37craniosynostosis 310.1
38craniosynostosis - dandy-walker malformation - hydrocephalus10.1
39brachydactyly10.1
40rickets10.1
41pycnodysostosis10.1
42holoprosencephaly10.1
43hydrocephalus10.1
44strabismus10.1
45osteopetrosis10.0
46klippel-feil syndrome10.0
47porokeratosis10.0
48hypertension10.0
49intracranial hypertension10.0
50sleep disorder10.0

Graphical network of the top 20 diseases related to Craniosynostosis:



Diseases related to craniosynostosis

Clinical Features for Craniosynostosis

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46OMIM
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Clinical features from OMIM:

123100,604757,182212

Drugs & Therapeutics for Craniosynostosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Craniosynostosis

Drug clinical trials:

Search ClinicalTrials for Craniosynostosis

Search NIH Clinical Center for Craniosynostosis

Search CenterWatch 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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30LifeMap Discovery™, 32MalaCards, 14FMA
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MalaCards organs/tissues related to Craniosynostosis:

32
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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36MGI
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MGI Mouse Phenotypes related to Craniosynostosis:

36 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.8ANKH, EFNB1, RECQL4, FGF9, LRP5, MSX2
2MP:000538210.8FGF9, LRP5, MSX2, TWIST1, FGFR3, FGF8
3MP:000539010.8TWIST1, FGF9, FGFR3, FGF8, FGF10, FGFR1
4MP:000537710.8MSX2, FGF2, FGF9, FGF8, FGF10, FGFR1
5MP:000538110.7RECQL4, FGF10, FGFR1, FGF8, FGFR2, FGFR3
6MP:000538010.7IL11RA, FGF8, FGFR1, RECQL4, EFNB1, RHBDF1
7MP:000537810.7TWIST1, IL11RA, MSX2, ENPP1, LRP5, FGFR3
8MP:000536910.7ANKH, TWIST1, ENPP1, MSX2, FGF2, FGF8
9MP:001076810.7LRP5, FGFR2, FGFR1, FGF10, FGF8, FGFR3
10MP:000538510.7MSX2, FGFR2, FGFR1, FGF8, FGF9, FGF2
11MP:000539110.7LRP5, MSX2, FGF2, FGF9, FGFR3, FGF8
12MP:000539710.7MSX2, LRP5, RHBDF1, FBN1, ANKH, RECQL4
13MP:001077110.7FGFR1, FGFR2, RHBDF1, FBN1, FGF10, FGF9
14MP:000538610.7FGF9, TWIST1, ENPP1, FGFR1, LRP5, FGF2
15MP:000538410.7FBN1, LRP5, FGF2, FGF9, FGFR3, FGF8
16MP:000538710.6IL11RA, FGFR3, RECQL4, FGF8, FGF10, FBN1
17MP:000363110.6ENPP1, TWIST1, LRP5, FGF8, MSX2, FGF2
18MP:000537910.6FGFR2, FGFR1, MSX2, FBN1
19MP:000538910.6EFNB1, FGF9, IL11RA, FGF2, FGFR3, FGF8
20MP:000538810.5FGF10, NELL1, EFNB1, FGFR2, FGF9, FGFR3
21MP:000287310.4FGF8, FGFR3, FGF9, LRP5, MSX2, FGFR1
22MP:000537610.4EFNB1, ANKH, FBN1, FGF10, FGF8, FGFR3
23MP:000118610.4MSX2
24MP:000536710.1FGF10, FGFR3, FGF8, FGFR1, FGFR2, ANKH

Publications for Craniosynostosis

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50PubMed
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Articles related to Craniosynostosis:

(show top 50)    (show all 642)
idTitleAuthorsYear
1
Improvements in patient blood management for pediatric craniosynostosis surgery using a ROTEM(Ar) -assisted strategy - feasibility and costs. (24417649)
2014
2
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome. (23303641)
2013
3
Orbital aspects following monobloc advancement in syndromic craniosynostosis. (23352809)
2013
4
Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis. (24071792)
2013
5
Duration of mechanical ventilation after craniosynostosis Repair reduces over time. (23877307)
2013
6
Craniosynostosis and radial ray defect: a rare presentation of 22q11.2 deletion syndrome. (23813949)
2013
7
Tranexamic Acid reducing blood transfusion in children undergoing craniosynostosis surgery. (23348305)
2013
8
Craniosynostosis: caring for infants and their families. (23908168)
2013
9
A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis. (23175007)
2012
10
Serial head circumference and neurodevelopmental screening after surgical correction for single- and multiple-suture craniosynostosis. (22034904)
2012
11
Pycnodysostosis with craniosynostosis: case report of the craniofacial and oral features. (21968522)
2012
12
Long-term follow-up of syndromic craniosynostosis after Le Fort III halo distraction: a cephalometric and CT evaluation. (22227504)
2012
13
Segmental distraction osteogenesis with modified LeFort II osteotomy for a patient with craniosynostosis. (23116511)
2012
14
Intracranial volume and whole brain volume in infants with unicoronal craniosynostosis. (20815706)
2011
15
Combined metopic and sagittal craniosynostosis: is it worse than sagittal synostosis alone? (21806341)
2011
16
Molecular signaling in pathogenesis of craniosynostosis: the role of fibroblast growth factor and transforming growth factor-I^. (21806346)
2011
17
Early onset of Runx2 expression caused craniosynostosis, ectopic bone formation, and limb defects. (21807129)
2011
18
The incidence of craniosynostosis in the Netherlands, 1997-2007. (20888312)
2011
19
Mercedes Benz pattern craniosynostosis. (20048621)
2010
20
Health-related quality of life in children and adolescents with syndromic craniosynostosis. (20223716)
2010
21
Craniosynostosis: diagnosis and surgical management. (21036311)
2010
22
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. (20643727)
2010
23
Three-dimensional airway changes after Le Fort III advancement in syndromic craniosynostosis patients. (20679838)
2010
24
Sustained platelet-derived growth factor receptor alpha signaling in osteoblasts results in craniosynostosis by overactivating the phospholipase C-gamma pathway. (19047372)
2009
25
Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathology. (19389359)
2009
26
Symptom outcomes following cranial vault expansion for craniosynostosis in children older than 2 years. (19116564)
2009
27
The role of distraction osteogenesis in children with secondary craniosynostosis after shunt operation in early infancy. (20110756)
2009
28
Single suture craniosynostosis: diagnosis and imaging. (18391496)
2008
29
Current treatment of craniosynostosis and future therapeutic directions. (18391503)
2008
30
Morphometric analysis of untreated adult skulls in syndromic and nonsyndromic craniosynostosis. (17992550)
2008
31
Outcomes and complications based on experience with resorbable plates in pediatric craniosynostosis patients. (18520420)
2008
32
A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes. (17506099)
2007
33
Endoscopic-assisted osteotomies for the treatment of craniosynostosis. (17899127)
2007
34
Potential role of PC-1 expression and pyrophosphate elaboration in the molecular etiology of the FGFR-associated craniosynostosis syndromes. (17552941)
2007
35
Unravelling the molecular control of calvarial suture fusion in children with craniosynostosis. (18076769)
2007
36
'Z-pattern' craniosynostosis: a novel presentation of trisutural fusion. (17538319)
2007
37
Expansion cranioplasty with jackscrew distracters for craniosynostosis and intracranial hypertension in transplanted osteopetrosis. (17337920)
2007
38
Operative treatment of coronal craniosynostosis: 20 years of experience. (18037036)
2007
39
Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. (16540516)
2006
40
Progressive postnatal craniosynostosis and increased intracranial pressure. (15060342)
2004
41
Management of craniosynostosis. (12711969)
2003
42
Increased osteoblast apoptosis in apert craniosynostosis: role of protein kinase C and interleukin-1. (11337381)
2001
43
Role of the extracellular matrix and growth factors in skull morphogenesis and in the pathogenesis of craniosynostosis. (11061436)
2000
44
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. (10406670)
1999
45
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. (9600744)
1998
46
Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4. (9682222)
1998
47
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. (8946174)
1996
48
Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia: a new syndrome? (8669448)
1996
49
Fibroblast growth factor receptor-2 mutations in craniosynostosis. (8702123)
1996
50
The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences. (8968743)
1996

Genetic Variations for Craniosynostosis

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Expression for genes affiliated with Craniosynostosis

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1BioGPS, 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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51QIAGEN, 52R&D Systems, 49PharmGKB, 37NCBI BioSystems Database, 53Reactome, 4Cell Signaling Technology, 29KEGG, 12EMD Millipore
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Pathways related to Craniosynostosis according to GeneCards/GeneDecks:

(show all 41)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5FGFR3, FGFR1, FGFR2
210.5FGFR3, FGFR1, FGFR2
3
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10.5FGFR2, FGFR1, FGFR3
410.5LRP5
510.5FGF2, FGFR3, FGFR1, FGFR2
6
Hide members
10.5FGF2, FGF10, FGFR2
710.5FGFR1, FGFR3, FGF2, ENPP1
810.5EFNB1, FGFR2, FGFR1, FGFR3, FGF2
910.5EFNB1, FGFR2, FGFR1, FGFR3, FGF2
1010.5FGFR2, FGFR1, FGF8, FGFR3, FGF2, MSX2
11
Hide members
10.5FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF9
12
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGF9
13
Hide members
10.4FBN1, FGFR2, FGFR1, FGF10, FGF8, FGFR3
14
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF2
15
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF2
16
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF2
17
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF2
18
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF2
19
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF2
20
Hide members
10.4FGF2, FGFR3, FGF8, FGF10, FGFR1, FGFR2
21
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF2
22
Hide members
10.4FGF2, FGFR2, FGFR1, FGF10, FGF8, FGFR3
23
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF9
24
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF9
25
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF9
26
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF9
27
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF9
28
Development FGF-family signaling
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10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF9
29
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF9
3010.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF9
31
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF9
3210.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF9
33
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF9
3410.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF9
35
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF9
36
Hide members
10.4FBN1, FGFR2, FGFR1, FGF10, FGF8, FGFR3
37
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF9
38
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF9
3910.4FGFR1, FGF10, FGF8, FGF9, FGF2, TWIST1
40
Hide members
10.4FGFR2, FGFR1, FGF10, FGF8, FGFR3, FGF9
41
Hide members
10.4FBN1, FGFR2, FGFR1, FGF10, FGF8, FGFR3

Compounds for genes affiliated with Craniosynostosis

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44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB
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Compounds related to Craniosynostosis according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1su54024410.8FGFR2, FGFR1, FGFR3, FGF2
2pd 17307444 5911.8FGFR2, FGF2, FGFR1, FGFR3
3fiin 1 hydrochloride5910.8FGFR1, FGFR2, FGFR3
4su 54025910.8FGFR3, FGFR1, FGFR2
5pd 1615705910.8FGFR3, FGFR1, FGFR2
6palifermin44 1111.8FGFR2, FGFR1, FGFR3
7heparan sulfate44 2411.8FGFR2, FBN1, FGFR1, FGF10, FGF8, FGF2
8tyrosine4410.8EFNB1, FGFR1, FGFR3, TWIST1, ENPP1, FGF9
9Ponatinib 1110.8FGFR3, FGFR1, FGFR2
10chondroitin sulfate44 2411.8FGFR2, FBN1, FGFR1, FGF2
11heparin44 28 11 2413.8FGFR1, FGF2, FGF9, FGF8, FGF10, FGFR2
12SU49841110.7FGFR2, FGFR1
13suramin44 28 1112.7FGFR1, FGFR2, FGF8, FGF2
14sucrose octasulfate44 1111.7FGF2, FGFR2
15bromodeoxyuridine4410.7FGFR1, FGFR2, FGF10, FGF2
16vegf4410.7FGF2, FGFR3, FGFR2, FGFR1, FGF9, FGF10
17lysine4410.7FGFR2, FGFR1, FGFR3, ENPP1, FBN1
18calcium44 49 11 2413.6FBN1, ANKH, MSX2, ENPP1, FGF9, FGFR2
19su66684410.6FGFR1, FGF2
20chlorate4410.6FGFR1, FGF2
21sodium chlorate4410.5FGF2, FGFR1
22sulfate44 2411.5ENPP1, FGFR3, FGFR2
23thalidomide44 49 59 1113.5FGFR3, FGFR2, FGF2
24retinoic acid44 2411.3FBN1, FGF10, FGFR1, FGFR2, FGF2, FGF8
25paclitaxel44 49 1112.2TWIST1, FGF2, FGFR2, FGFR1

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:01602310.5FGFR3, FGFR1, FGFR2
2extracellular regionGO:00557610.4FGF2, FBN1, NELL1, FGFR2, FGFR1, FGF10
3extracellular spaceGO:00561510.3FBN1, FGF10, FGF8, FGF9, FGF2, ENPP1
4integral to plasma membraneGO:00588710.2ANKH, EFNB1, FGFR2, FGFR1, FGFR3, IL11RA

Biological processes related to Craniosynostosis according to GeneCards/GeneDecks:

(show top 50)    (show all 67)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase activityGO:01051810.9FGFR2, FGFR1, FGFR3
2positive regulation of MAPK cascadeGO:04341010.9FGFR1, FGF9, FGFR3, FGF10, FGFR2
3phosphatidylinositol-mediated signalingGO:04801510.9FGF8, FGF10, FGFR2, FGFR3, FGF9, FGF2
4positive regulation of cardiac muscle cell proliferationGO:06004510.9FGF9, FGFR1, FGFR2, FGF2
5insulin receptor signaling pathwayGO:00828610.9FGF9, FGFR1, FGF10, FGF8, FGFR3, FGFR2
6positive regulation of mesenchymal cell proliferationGO:00205310.9FGF9, FGFR2, FGFR1, LRP5
7fibroblast growth factor receptor signaling pathwayGO:00854310.9FGF8, FGFR2, FGFR1, FGF10, FGFR3, FGF9
8Fc-epsilon receptor signaling pathwayGO:03809510.9FGFR2, FGF9, FGFR3, FGF8, FGF10, FGFR1
9lung-associated mesenchyme developmentGO:06048410.9FGFR2, FGFR1, FGF9
10organ inductionGO:00175910.9FGF2, FGFR1, FGF10, FGF8
11epidermal growth factor receptor signaling pathwayGO:00717310.9FGFR2, FGF10, FGF8, FGFR3, FGF9, FGF2
12otic vesicle formationGO:03091610.9FGFR2, FGF10, FGF8
13positive regulation of canonical Wnt receptor signaling pathwayGO:09026310.9FGF9, FGFR3, FGF10, FGFR2
14neurotrophin TRK receptor signaling pathwayGO:04801110.9FGFR1, FGF10, FGF8, FGFR3, FGFR2, FGF2
15outflow tract septum morphogenesisGO:00314810.9FGFR2, FGF8, MSX2
16branching involved in salivary gland morphogenesisGO:06044510.9FGFR2, FGFR1, FGF8
17positive regulation of cell proliferationGO:00828410.9FGF8, FGFR3, FGF9, FGF2, LRP5, FGFR2
18positive regulation of cell divisionGO:05178110.9FGF8, FGF9, FGFR2, FGF2
19bone morphogenesisGO:06034910.9FGFR2, LRP5, FGFR3
20fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.9FGFR2, FGFR1
21regulation of bone mineralizationGO:03050010.9ANKH, ENPP1, TWIST1
22positive regulation of ERK1 and ERK2 cascadeGO:07037410.8FGFR3, FGF10, FGF2, FGFR2
23fibroblast growth factor receptor signaling pathway involved in mammary gland specificationGO:06059510.8FGFR2, FGF10
24embryonic pattern specificationGO:00988010.8FGFR2, FGF10, EFNB1
25mammary gland bud formationGO:06061510.8FGF10, FGFR2
26innate immune responseGO:04508710.8FGF9, FGFR3, FGF2, FGF10, FGFR1, FGFR2
27mesenchymal cell differentiation involved in lung developmentGO:06091510.8FGF10, FGFR2
28branch elongation involved in salivary gland morphogenesisGO:06066710.8FGFR2, FGF10
29substantia nigra developmentGO:02176210.8FGFR3, FGF2
30embryonic hindlimb morphogenesisGO:03511610.8FGF8, TWIST1, MSX2
31chondrocyte differentiationGO:00206210.8FGFR1, FGF9, FGFR3
32skeletal system developmentGO:00150110.8ANKH, FBN1, FGFR1, FGFR3
33ventricular zone neuroblast divisionGO:02184710.8FGFR2, FGFR1
34corticotropin hormone secreting cell differentiationGO:06012810.8FGF2, FGF8
35embryonic limb morphogenesisGO:03032610.8FGFR1, FGF9, LRP5
36lacrimal gland developmentGO:03280810.8FGF10, FGFR2
37thyroid-stimulating hormone-secreting cell differentiationGO:06012910.7FGF2, FGF8
38regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signalingGO:06066510.7FGF10, FGFR1
39endochondral bone growthGO:00341610.7FGFR3, MSX2
40peptidyl-tyrosine phosphorylationGO:01810810.7FGFR1, FGFR2, FGFR3
41osteoblast differentiationGO:00164910.7FGF9, MSX2, TWIST1
42positive regulation of osteoblast differentiationGO:04566910.7MSX2, FGF2, NELL1
43positive regulation of epithelial cell proliferationGO:05067910.6FGF9, FGF10, FGFR2
44positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.6FGFR3, FGFR1
45cranial suture morphogenesisGO:06036310.6TWIST1, MSX2
46inner ear morphogenesisGO:04247210.5FGF9, FGFR2, FGFR1
47negative regulation of mitosisGO:04583910.5FGFR3, FGFR2
48angiogenesisGO:00152510.5FGFR2, FGFR1, FGF10, FGF9
49MAPK cascadeGO:00016510.4FGFR1, FGFR3, FGF8
50epithelial cell proliferation involved in salivary gland morphogenesisGO:06066410.2FGFR2, FGF10

Molecular functions related to Craniosynostosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor bindingGO:01713410.6FGFR2, FGFR1, FGFR3, FGF2
2fibroblast growth factor receptor bindingGO:00510410.6FGF10, FGF8, FGF9, FGF2
3fibroblast growth factor-activated receptor activityGO:00500710.5FGFR3, FGFR1, FGFR2
4protein tyrosine kinase activityGO:00471310.5FGFR2, FGFR1, FGFR3
5heparin bindingGO:00820110.5FGFR2, FGFR1, FGF10, FGF2, FGF9
6type 2 fibroblast growth factor receptor bindingGO:00511110.4FGF8, FGF10
7growth factor activityGO:00808310.1FGF10, FGF8, FGF9, FGF2

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Sources for Craniosynostosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
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50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
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