CSO
MCID: CRN037
MIFTS: 69

Craniosynostosis (CSO)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Craniosynostosis

MalaCards integrated aliases for Craniosynostosis:

Name: Craniosynostosis 12 75 53 54 59 29 55 6 15 40 72 33
Craniosynostosis Syndrome 29 6
Premature Closure of Cranial Sutures 12
Craniosynostoses 44
Craniostenosis 53
Cso 53

Characteristics:

Orphanet epidemiological data:

59
craniosynostosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:2340
MeSH 44 D003398
NCIt 50 C84655
SNOMED-CT 68 57219006
ICD10 33 Q75.0
MESH via Orphanet 45 D003398
ICD10 via Orphanet 34 Q75.0
UMLS via Orphanet 73 C0010278
Orphanet 59 ORPHA1531
UMLS 72 C0010278

Summaries for Craniosynostosis

NIH Rare Diseases : 53 Craniosynostosis is the premature closure of one or more of the joints that connect the bones of a baby's skull (cranial sutures). Normally, the bones remain separate until about age 2, while the brain is growing. They then fuse together and stay connected throughout life. The closure is premature when it occurs before brain growth is complete. Symptoms and severity vary depending on how many sutures close prematurely. For example, if only one closes prematurely (which is most common), brain growth may continue in other parts of the skull, leading only to an abnormally-shaped skull and no other health problems or complications. If multiple sutures close prematurely, brain growth can be restricted. This can lead to increased pressure in the skull, impaired brain development, seizures, blindness, and/or intellectual disability. Craniosynostosis may occur as a single abnormality (isolated craniosynostosis) or it may occur as one feature of one of many syndromes. Most cases of isolated craniosynostosis occur randomly (sporadically) and have no known cause. In some cases, isolated craniosynostosis is due to a mutation in any of several genes, with autosomal dominant inheritance. When craniosynostosis is a feature of a larger syndrome (syndromic craniosynostosis), the cause and inheritance pattern depend on the syndrome the person has. However, most syndromic causes of craniosynostosis are autosomal dominant. Craniosynostosis can also be associated with a metabolic disease such as rickets, or hyperthyroidism. Treatment for craniosynostosis depends on the severity in each child and may involve surgery in infancy to relieve pressure within the skull, allow for brain growth, and improve the appearance of the shape of the head. However, not all children with craniosynostosis will need surgery. The long-term outlook depends on how many sutures are involved and whether the child has a larger syndrome or other health problems. Children who have surgery and are otherwise healthy generally do not experience long-term complications, especially when only one suture is involved.

MalaCards based summary : Craniosynostosis, also known as craniosynostosis syndrome, is related to craniosynostosis 1 and jackson-weiss syndrome. An important gene associated with Craniosynostosis is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are TGF-Beta Pathway and Developmental Biology. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include Bone and Bone, and related phenotypes are no effect and growth/size/body region

Disease Ontology : 12 A synostosis that results in premature fusion located in skull.

NINDS : 54 Craniosynostosis is a birth defect of the skull 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. Normally 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 a misshapen 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 impaired cognitive development, which are caused by constriction of the growing brain. Seizures and blindness may also occur.

Wikipedia : 75 Craniosynostosis is a condition in which one or more of the fibrous sutures in an infant (very young)... more...

Related Diseases for Craniosynostosis

Diseases in the Craniosynostosis family:

Craniosynostosis 1 Craniosynostosis 4
Craniosynostosis 2 Craniosynostosis Syndrome, Autosomal Recessive
Craniosynostosis 3 Craniosynostosis 5
Craniosynostosis 6 Craniosynostosis 7
Craniosynostosis Autosomal Dominant

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

(show top 50) (show all 636)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 1 34.7 TWIST1 ERF
2 jackson-weiss syndrome 34.2 FGFR3 FGFR2 FGFR1
3 beare-stevenson cutis gyrata syndrome 33.8 FGFR3 FGFR2
4 saethre-chotzen syndrome 33.1 TWIST1 RECQL4 MSX2 FGFR3 FGFR2 FGFR1
5 osteoglophonic dysplasia 33.0 FGFR3 FGFR2 FGFR1
6 isolated plagiocephaly 32.8 ZIC1 TWIST1 TCF12 FGFR3
7 pfeiffer syndrome 32.8 TWIST1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
8 apert syndrome 32.8 TWIST1 FGFR3 FGFR2 FGFR1 FGF2 FGF10
9 chromosome 2q35 duplication syndrome 32.7 NOG FGFR3 FGFR2
10 crouzon syndrome 32.6 MSX2 IL11RA FGFR3 FGFR2 FGFR1 FGF2
11 hartsfield syndrome 32.5 FGFR1 FGF8
12 muenke syndrome 32.4 TWIST1 FGFR3 FGFR2 FGFR1 FGF8 FGF2
13 isolated scaphocephaly 32.1 TWIST1 ERF ALX4
14 plagiocephaly 31.9 TWIST1 FGFR3 FGFR2 FGFR1
15 lacrimoauriculodentodigital syndrome 31.8 FGFR3 FGFR2 FGFR1 FGF8 FGF10
16 isolated brachycephaly 31.8 ZIC1 TWIST1 TCF12 FGFR3
17 achondroplasia 31.3 FGFR3 FGFR2 FGFR1
18 parietal foramina 31.2 TWIST1 MSX2 ALX4
19 hypertelorism 31.1 TWIST1 FGFR2 EFNB1
20 hypochondroplasia 31.1 FGFR3 FGFR2 FGFR1
21 radioulnar synostosis 30.9 FGFR3 FGFR2 FGFR1
22 thanatophoric dysplasia, type i 30.9 FGFR3 FGFR2 FGFR1 FGF8
23 dysostosis 30.5 TWIST1 FGFR2 ALX4
24 synostosis 30.4 TWIST1 TCF12 NOG NELL1 MSX2 FGFR3
25 hypospadias 30.3 FGFR2 FGF8 FGF10
26 shprintzen-goldberg craniosynostosis syndrome 12.7
27 craniosynostosis 2 12.6
28 craniosynostosis and dental anomalies 12.6
29 craniosynostosis 4 12.6
30 craniosynostosis 7 12.6
31 craniosynostosis 5 12.6
32 craniosynostosis 3 12.5
33 craniosynostosis 6 12.5
34 holoprosencephaly, semilobar, with craniosynostosis 12.4
35 dandy-walker malformation with sagittal craniosynostosis and hydrocephalus 12.4
36 baller-gerold syndrome 12.4
37 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 12.4
38 isolated craniosynostosis 12.3
39 syndromic craniosynostosis 12.2
40 craniosynostosis-mental retardation-clefting syndrome 12.2
41 craniosynostosis, adelaide type 12.2
42 hunter-mcalpine craniosynostosis syndrome 12.2
43 herrmann opitz craniosynostosis 12.2
44 craniosynostosis with fibular aplasia 12.2
45 craniostenosis cataract 12.2
46 craniostenosis with strabismus 12.2
47 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 12.2
48 craniosynostosis, calcification of basal ganglia, and facial dysmorphism 12.2
49 fgfr-related craniosynostosis syndromes 12.2
50 scarf syndrome 12.2

Graphical network of the top 20 diseases related to Craniosynostosis:



Diseases related to Craniosynostosis

Symptoms & Phenotypes for Craniosynostosis

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ALX4 EFNB1 ERF FGF10 FGF2 FGF8

MGI Mouse Phenotypes related to Craniosynostosis:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.44 ALX4 EFNB1 ERF FGF10 FGF8 FGFR1
2 behavior/neurological MP:0005386 10.43 ALX4 FGF10 FGF2 FGF8 FGFR1 FGFR2
3 craniofacial MP:0005382 10.4 ALX4 EFNB1 ERF FGF10 FGF8 FGFR1
4 mortality/aging MP:0010768 10.38 ALX4 EFNB1 ERF FGF10 FGF2 FGF8
5 cellular MP:0005384 10.35 EFNB1 ERF FGF10 FGF2 FGF8 FGFR1
6 cardiovascular system MP:0005385 10.32 ERF FGF10 FGF2 FGF8 FGFR1 FGFR2
7 embryo MP:0005380 10.31 ALX4 EFNB1 ERF FGF10 FGF8 FGFR1
8 digestive/alimentary MP:0005381 10.29 ALX4 EFNB1 FGF10 FGF8 FGFR1 FGFR2
9 hematopoietic system MP:0005397 10.22 EFNB1 ERF FGF10 FGF2 FGF8 FGFR1
10 nervous system MP:0003631 10.22 ALX4 EFNB1 ERF FGF10 FGF2 FGF8
11 limbs/digits/tail MP:0005371 10.21 ALX4 EFNB1 FGF10 FGF8 FGFR1 FGFR2
12 endocrine/exocrine gland MP:0005379 10.18 EFNB1 FGF10 FGF8 FGFR1 FGFR2 MSX2
13 integument MP:0010771 10.16 ALX4 EFNB1 FGF10 FGFR1 FGFR2 FGFR3
14 hearing/vestibular/ear MP:0005377 10.15 EFNB1 FGF10 FGF2 FGF8 FGFR1 FGFR2
15 muscle MP:0005369 10.15 ALX4 FGF10 FGF2 FGF8 FGFR1 FGFR2
16 normal MP:0002873 9.91 ALX4 ERF FGF10 FGF8 FGFR1 FGFR2
17 skeleton MP:0005390 9.86 ALX4 EFNB1 ERF FGF10 FGF2 FGF8
18 respiratory system MP:0005388 9.76 ALX4 EFNB1 FGF10 FGF8 FGFR2 FGFR3
19 vision/eye MP:0005391 9.44 ALX4 EFNB1 FGF10 FGF2 FGF8 FGFR1

Drugs & Therapeutics for Craniosynostosis

Drugs for Craniosynostosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 89)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
4
Tranexamic Acid Approved Phase 4 1197-18-8 5526
5 Tranquilizing Agents Phase 4
6 Central Nervous System Stimulants Phase 4
7 Serotonin Antagonists Phase 4
8 Dopamine Agents Phase 4
9 Neurotransmitter Uptake Inhibitors Phase 4
10 Serotonin Agents Phase 4
11 Antipsychotic Agents Phase 4
12 Dopamine Uptake Inhibitors Phase 4
13 Psychotropic Drugs Phase 4
14 Dopamine Antagonists Phase 4
15 Hemostatics Phase 4
16 Coagulants Phase 4
17 Antifibrinolytic Agents Phase 4
18
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
19 Pharmaceutical Solutions Phase 3
20
Aminocaproic acid Approved, Investigational Phase 2 60-32-2 564
21
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
22
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
23
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
24
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6 774
25
Diphenhydramine Approved, Investigational Phase 1, Phase 2 58-73-1, 147-24-0 3100
26
Calcium Approved, Nutraceutical Phase 1, Phase 2 7440-70-2 271
27 Analgesics Phase 1, Phase 2
28 Calcium, Dietary Phase 1, Phase 2
29 Neurotransmitter Agents Phase 1, Phase 2
30 Central Nervous System Depressants Phase 1, Phase 2
31 Anesthetics, Local Phase 1, Phase 2
32 Anti-Allergic Agents Phase 1, Phase 2
33 Analgesics, Non-Narcotic Phase 1, Phase 2
34 Histamine H1 Antagonists Phase 1, Phase 2
35
Histamine Phosphate Phase 1, Phase 2 51-74-1 65513
36 Histamine Antagonists Phase 1, Phase 2
37 Hypnotics and Sedatives Phase 1, Phase 2
38 Antipruritics Phase 1, Phase 2
39 Antipyretics Phase 1, Phase 2
40 Anesthetics Phase 1
41 Thymoglobulin Phase 1
42 Cyclosporins Phase 1
43 Hormones Phase 1
44 Antilymphocyte Serum Phase 1
45
Ferrous fumarate Approved 141-01-5
46
Iron Approved, Experimental 15438-31-0, 7439-89-6 23925 27284
47
Tacrolimus Approved, Investigational 104987-11-3 445643 439492 6473866
48
Prednisolone phosphate Approved, Vet_approved 302-25-0
49
Methylprednisolone Approved, Vet_approved 83-43-2 6741
50
Mycophenolic acid Approved 24280-93-1 446541

Interventional clinical trials:

(show top 50) (show all 58)
# Name Status NCT ID Phase Drugs
1 The Efficacy and Population Pharmacokinetics/ Pharmacogenomics of a Reduced Dose of Tranexamic Acid for Craniosynostosis Surgery Completed NCT02188576 Phase 4 high dose TXA;Low dose TXA
2 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
3 Tranexamic Acid for the Reduction of Allogeneic Blood Exposure in Infants and Children Having Craniofacial Surgery Terminated NCT00722436 Phase 4 Tranexamic acid;saline
4 Comparison of Allogenix Plus Demineralized Bone Matrix and Autogenous Bone Dust Versus Autogenous Bone Dust Alone in Ossification of Small Calvarial Defects, a Pilot Study. Withdrawn NCT01006148 Phase 4
5 The Effects of Fibrinogen Concentrate Infusion on Perioperative Blood Loss and Allogeneic Blood Conservation in Patients Undergoing Scoliosis Surgery Recruiting NCT03183479 Phase 3 Fibrinogen Concentrate Human;Normal saline
6 Blood Loss and Transfusion Requirement in Infants Treated With Tranexamic Acid Undergoing Craniosynostosis Reconstruction: A Randomized Placebo-Controlled Double Blind Study of Low and High Dose Therapy Suspended NCT01094977 Phase 3 Tranexamic Acid;Tranexamic Acid;Saline Placebo
7 Efficacy of ε-Aminocaproic Acid (EACA) in Children Undergoing Craniofacial Reconstruction Surgery Active, not recruiting NCT02229968 Phase 2 Amicar (ε-aminocaproic acid);normal saline
8 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Active, not recruiting NCT00576836 Phase 2
9 Phase II Study of Thymus Transplantation in Complete DiGeorge Syndrome #668 Active, not recruiting NCT00576407 Phase 2
10 Phase I/II Trial of Thymus Transplantation With Immunosuppression, #950 Active, not recruiting NCT00579527 Phase 1, Phase 2 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Daclizumab;Mycophenolate mofetil
11 Pharmacokinetics of Epsilon-Aminocaproic Acid in Children Undergoing Craniofacial Reconstruction Surgery Completed NCT00912119 Phase 1 Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid
12 A 5-Week, Multi-center, Open-label Study to Assess the Safety and Efficacy of NFC-1 in Subjects Aged 12-17 Years With 22q11.2 Deletion Syndrome and Commonly Associated Neuropsychiatric Conditions (Anxiety, ADHD, ASD) Completed NCT02895906 Phase 1 NFC-1
13 Thymus Transplantation With Immunosuppression, #884 Active, not recruiting NCT00579709 Phase 1
14 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Active, not recruiting NCT00566488 Phase 1
15 The Effect of Gender on the Consumption of Pain Medication in Infants Undergoing Craniosynostosis Repair or Untethering of Cord in ITU Unknown status NCT01996163
16 Non-invasive Epicutaneous Transfontanel Intracranial Pressure Monitoring in Children Under the Age of One: a Novel Technique Unknown status NCT02775669
17 Non-Invasive Chromosomal Evaluation of 22q11.2 Using Cell-free Fetal DNA From Maternal Plasma Unknown status NCT02541058
18 Genetic Modifiers for 22q11.2 Syndrome Unknown status NCT00916955
19 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
20 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
21 Changes of Optic Nerve Sheath Diameter in Modified Prone Position in Craniosynostosis Children Completed NCT03131245
22 Neurobehavioral Correlates of Craniosynostosis Completed NCT00077831
23 Genetic Analysis of Craniosynostosis, Philadelphia Type (OMIM 601222) Completed NCT00367796
24 Craniosynostosis: How to Improve the Diagnosis and Assist Patients and Their Families? Completed NCT02287805
25 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321 Tranexamic Acid;normal saline
26 Osteogenic Profiling of Tissue From Children With Craniosynostosis Completed NCT00773643
27 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650
28 The Affect of Radiated Versus Non-Irradiated Blood on Extracellular Potassium Levels in Infants Undergoing Craniosynostosis Repair Completed NCT02483702
29 Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary Results Completed NCT01672619
30 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
31 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
32 Genetic Analysis of Craniofrontonasal Syndrome Completed NCT00339846
33 A Remediation Program for Children at High-Risk of Schizophrenia: 22q11.2 Deletion Syndrome Completed NCT01781923
34 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
35 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
36 Detection and Quantification of Neonatal Intraventricular Hemorrhage Completed NCT01899651
37 Intermediate Phenotype and Genetic Mechanisms for Psychosis and Cognitive Disturbance in 22q11.2-Hemideletion Syndrome Completed NCT00105274
38 Computer-Based Cognitive Remediation in Adolescents With VCFS Completed NCT00917189
39 Effectiveness of Tortle Midliner Positioning System on the Prevention and Treatment of Cranial Molding Deformities in Preterm Infants Completed NCT02366936
40 Craniosynostosis Network Recruiting NCT03025763
41 Comparison of the Rate of Preoperative Haemoglobin After Administration of Epoetin Alpha Associated With an Oral Medical Supplementation Versus Intravenous Before Surgery of Craniosynostosis at the Child Recruiting NCT03231085 Ferrous fumarate or ferrostrane
42 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
43 Bedside Resources to Gauge Intravascular Volume Status in Hypovolemic Infants in the Operating Room Recruiting NCT03915587
44 Bohring-Opitz Syndrome and ASXL-Related Phenotypes Registry Recruiting NCT03303716
45 First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome - ReFaPo02 Recruiting NCT03375359
46 Biomarker for Hypophosphatasia Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02603042
47 A Pilot, Prospective Study of Myelin Imaging Changes in Patients With Neurosurgical Diseases Recruiting NCT03698838
48 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
49 Social Cognition Training and Cognitive Remediation : a New Tool for 22q11.2 Deletion Syndrome Recruiting NCT03284060
50 Genetic Modifiers of 22q11.2 Deletion Syndrome Active, not recruiting NCT00556530

Search NIH Clinical Center for Craniosynostosis

Cochrane evidence based reviews: craniosynostoses

Genetic Tests for Craniosynostosis

Genetic tests related to Craniosynostosis:

# Genetic test Affiliating Genes
1 Craniosynostosis Syndrome 29
2 Craniosynostosis 29

Anatomical Context for Craniosynostosis

The Foundational Model of Anatomy Ontology organs/tissues related to Craniosynostosis:

19
Skull

MalaCards organs/tissues related to Craniosynostosis:

41
Bone, Brain, Thyroid, Thymus, Heart, Testes, Skin
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Craniosynostosis:
# Tissue Anatomical CompartmentCell Relevance
1 Bone Rostral Sutures Fusing Suture Cells Affected by disease
2 Bone Rostral Sutures Presumptive Suture Cells Affected by disease
3 Bone Facial Sutures Presumptive Suture Cells Affected by disease
4 Bone Facial Sutures Suture Cells Affected by disease
5 Bone Rostral Sutures Suture Cells Affected by disease

Publications for Craniosynostosis

Articles related to Craniosynostosis:

(show top 50) (show all 4083)
# Title Authors PMID Year
1
Genetic basis of potential therapeutic strategies for craniosynostosis. 38 71
21082653 2010
2
Saethre-Chotzen syndrome: a case report. 9 38
19860490 2010
3
Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis. 9 38
20124286 2010
4
Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts. 9 38
20489451 2010
5
Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice. 9 38
20175913 2010
6
New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling. 9 38
19898608 2009
7
Cleft palate in Pfeiffer syndrome. 9 38
19816260 2009
8
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. 9 38
19066959 2009
9
Medical treatment of craniosynostosis: recombinant Noggin inhibits coronal suture closure in the rat craniosynostosis model. 9 38
19627528 2009
10
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding. 9 38
19530187 2009
11
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. 9 38
19483581 2009
12
Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. 9 38
19396835 2009
13
Identification of novel fibroblast growth factor receptor 3 gene mutations in actinic cheilitis and squamous cell carcinoma of the lip. 9 38
19327639 2009
14
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. 9 38
18726952 2009
15
FGFR2 as a molecular target in endometrial cancer. 9 38
19243295 2009
16
Ex vivo Noggin gene therapy inhibits bone formation in a mouse model of postoperative resynostosis. 9 38
19182668 2009
17
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. 9 38
19022412 2009
18
Genetics of craniosynostosis: review of the literature. 9 38
20108486 2009
19
Apert syndrome: report of a case with emphasis on craniofacial and genetic features. 9 38
19186770 2008
20
A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis. 9 38
18242159 2008
21
The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis. 9 38
18317141 2008
22
Adverse facial edema associated with off-label use of recombinant human bone morphogenetic protein-2 in cranial reconstruction for craniosynostosis. Case report. 9 38
18352773 2008
23
FGF-2 signaling induces downregulation of TAZ protein in osteoblastic MC3T3-E1 cells. 9 38
18067853 2008
24
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations. 9 38
18391498 2008
25
P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia. 9 38
18493134 2008
26
Roles of FGFR2 and twist in human craniosynostosis: insights from genetic mutations in cranial osteoblasts. 9 38
18391499 2008
27
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. 9 38
18000976 2007
28
Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis. 9 38
17955513 2007
29
Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication. 9 38
18000908 2007
30
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. 9 38
17525745 2007
31
RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. 9 38
17694057 2007
32
Clinical dividends from the molecular genetic diagnosis of craniosynostosis. 9 38
17621648 2007
33
An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses. 9 38
17632770 2007
34
Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells. 9 38
17622301 2007
35
Noggin inhibits postoperative resynostosis in craniosynostotic rabbits. 9 38
17437358 2007
36
Auditory brainstem response abnormalities and hearing loss in children with craniosynostosis. 9 38
17515438 2007
37
Potential role of PC-1 expression and pyrophosphate elaboration in the molecular etiology of the FGFR-associated craniosynostosis syndromes. 9 38
17552941 2007
38
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. 9 38
17343269 2007
39
EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome. 9 38
17300690 2007
40
Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis. 9 38
17414280 2007
41
Extracellular matrix and growth factors in the pathogenesis of some craniofacial malformations. 9 38
17703601 2007
42
Sudden infant death in a patient with FGFR3 P250R mutation. 9 38
17103449 2006
43
The new bone biology: pathologic, molecular, and clinical correlates. 9 38
17103447 2006
44
FGFR3 mutations in benign skin tumors. 9 38
17172848 2006
45
Clinical dividends from the molecular genetic diagnosis of craniosynostosis. 9 38
16838304 2006
46
Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma. 9 38
17074596 2006
47
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 9 38
17033969 2006
48
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report. 9 38
16957473 2006
49
Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F. 9 38
16844695 2006
50
Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion. 9 38
16955501 2006

Variations for Craniosynostosis

ClinVar genetic disease variations for Craniosynostosis:

6 (show top 50) (show all 248)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ZNF462 NM_021224.6(ZNF462): c.3787C> T (p.Arg1263Ter) single nucleotide variant Pathogenic rs1060499549 9:109689980-109689980 9:106927699-106927699
2 ZNF462 NM_021224.6(ZNF462): c.4263del (p.Glu1422fs) deletion Pathogenic rs1060499551 9:109690456-109690456 9:106928175-106928175
3 ZNF462 NM_021224.6(ZNF462): c.2979_2980delinsA (p.Val994fs) indel Pathogenic rs1060499550 9:109689172-109689173 9:106926891-106926892
4 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 10:123276885-123276885 10:121517371-121517371
5 FGFR3 NM_000142.4(FGFR3): c.1138G> C (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 4:1806119-1806119 4:1804392-1804392
6 FGFR3 NM_000142.4(FGFR3): c.1172C> A (p.Ala391Glu) single nucleotide variant Pathogenic rs28931615 4:1806153-1806153 4:1804426-1804426
7 FGFR3 NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 4:1807371-1807371 4:1805644-1805644
8 FGFR3 NM_000142.4(FGFR3): c.1620C> G (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 4:1807371-1807371 4:1805644-1805644
9 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic rs121913483 4:1803568-1803568 4:1801841-1801841
10 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 4:1803571-1803571 4:1801844-1801844
11 FGFR3 NM_000142.4(FGFR3): c.1950G> C (p.Lys650Asn) single nucleotide variant Pathogenic rs28928868 4:1807891-1807891 4:1806164-1806164
12 FGFR3 NM_000142.4(FGFR3): c.1948A> C (p.Lys650Gln) single nucleotide variant Pathogenic rs78311289 4:1807889-1807889 4:1806162-1806162
13 FGFR3 NM_000142.4(FGFR3): c.1862G> A (p.Arg621His) single nucleotide variant Pathogenic rs121913113 4:1807803-1807803 4:1806076-1806076
14 FGFR3 NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu) single nucleotide variant Pathogenic rs397515514 4:1808988-1808988 4:1807261-1807261
15 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 4:1807890-1807890 4:1806163-1806163
16 46;XX;t(3;12)(q13.2;q14)dn Translocation Pathogenic
17 FGFR2 NM_000141.4(FGFR2): c.1694A> C (p.Glu565Ala) single nucleotide variant Likely pathogenic rs121918506 10:123256215-123256215 10:121496701-121496701
18 GRIN2B NM_000834.4(GRIN2B): c.2216T> G (p.Met739Arg) single nucleotide variant Likely pathogenic rs1555103652 12:13722907-13722907 12:13569973-13569973
19 TRPS1 NM_014112.5(TRPS1): c.1230G> A (p.Trp410Ter) single nucleotide variant Likely pathogenic rs1057518791 8:116616966-116616966 8:115604739-115604739
20 NPR2 NM_003995.3(NPR2): c.779A> T (p.Glu260Val) single nucleotide variant Likely pathogenic rs757744435 9:35794006-35794006 9:35794009-35794009
21 NPR2 NM_003995.3(NPR2): c.2162_2172del (p.Ser721fs) deletion Likely pathogenic rs1057518817 9:35805941-35805951 9:35805944-35805954
22 FGFR2 NM_000141.4(FGFR2): c.1570A> G (p.Thr524Ala) single nucleotide variant Likely pathogenic rs1057520044 10:123258111-123258111 10:121498597-121498597
23 FGFR2 NM_000141.4(FGFR2): c.1913A> C (p.Asn638Thr) single nucleotide variant Likely pathogenic rs777169135 10:123247578-123247578 10:121488064-121488064
24 FGFR3 NM_000142.4(FGFR3): c.1052C> G (p.Ser351Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1057517964 4:1805540-1805540 4:1803813-1803813
25 FGFR3 NM_000142.4(FGFR3): c.188C> G (p.Pro63Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs371729802 4:1801059-1801059 4:1799332-1799332
26 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28931614 4:1806119-1806119 4:1804392-1804392
27 FGFR3 NM_000142.4(FGFR3): c.1118A> G (p.Tyr373Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121913485 4:1806099-1806099 4:1804372-1804372
28 FGFR3 NM_000142.4(FGFR3): c.252G> A (p.Ser84=) single nucleotide variant Conflicting interpretations of pathogenicity rs367973461 4:1801123-1801123 4:1799396-1799396
29 FGFR3 NM_000142.4(FGFR3): c.1223C> T (p.Ser408Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs761877926 4:1806204-1806204 4:1804477-1804477
30 FGFR3 NM_000142.4(FGFR3): c.598C> T (p.Arg200Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs886043613 4:1803246-1803246 4:1801519-1801519
31 FGFR3 NM_000142.4(FGFR3): c.1497C> T (p.Ala499=) single nucleotide variant Conflicting interpretations of pathogenicity rs140594137 4:1807166-1807166 4:1805439-1805439
32 FGFR1 NM_023110.2(FGFR1): c.1368G> T (p.Met456Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200776757 8:38275808-38275808 8:38418290-38418290
33 FGFR1 NM_023110.2(FGFR1): c.787G> A (p.Ala263Thr) single nucleotide variant Uncertain significance rs747978107 8:38282176-38282176 8:38424658-38424658
34 FGFR1 NM_023110.2(FGFR1): c.549C> T (p.Thr183=) single nucleotide variant Uncertain significance rs886062920 8:38285511-38285511 8:38427993-38427993
35 FGFR1 NM_023110.2(FGFR1): c.449-7C> T single nucleotide variant Uncertain significance rs754454127 8:38285618-38285618 8:38428100-38428100
36 FGFR1 NM_023110.2(FGFR1): c.*958G> A single nucleotide variant Uncertain significance rs537880800 8:38270188-38270188 8:38412670-38412670
37 FGFR1 NM_023110.2(FGFR1): c.*494A> G single nucleotide variant Uncertain significance rs562843836 8:38270652-38270652 8:38413134-38413134
38 FGFR1 NM_023110.2(FGFR1): c.*313T> C single nucleotide variant Uncertain significance rs886062915 8:38270833-38270833 8:38413315-38413315
39 FGFR1 NM_023110.2(FGFR1): c.2465G> A (p.Arg822His) single nucleotide variant Uncertain significance rs758677681 8:38271150-38271150 8:38413632-38413632
40 FGFR1 NM_023110.2(FGFR1): c.*2407C> T single nucleotide variant Uncertain significance rs758524862 8:38268739-38268739 8:38411221-38411221
41 FGFR1 NM_023110.2(FGFR1): c.*1616T> G single nucleotide variant Uncertain significance rs886062908 8:38269530-38269530 8:38412012-38412012
42 FGFR1 NM_023110.2(FGFR1): c.*1560C> T single nucleotide variant Uncertain significance rs761096092 8:38269586-38269586 8:38412068-38412068
43 FGFR1 NM_023110.2(FGFR1): c.*1218T> C single nucleotide variant Uncertain significance rs886062910 8:38269928-38269928 8:38412410-38412410
44 FGFR2 NM_000141.4(FGFR2): c.*1402T> C single nucleotide variant Uncertain significance rs886046758 10:123237969-123237969 10:121478455-121478455
45 FGFR2 NM_000141.4(FGFR2): c.*1369C> T single nucleotide variant Uncertain significance rs886046759 10:123238002-123238002 10:121478488-121478488
46 FGFR1 NM_023110.2(FGFR1): c.415A> G (p.Lys139Glu) single nucleotide variant Uncertain significance rs201054877 8:38285897-38285897 8:38428379-38428379
47 FGFR1 NM_023110.2(FGFR1): c.75G> A (p.Pro25=) single nucleotide variant Uncertain significance rs17175757 8:38314890-38314890 8:38457372-38457372
48 FGFR2 NM_000141.4(FGFR2): c.-128G> A single nucleotide variant Uncertain significance rs547739869 10:123353459-123353459 10:121593945-121593945
49 MSX2 NM_002449.5(MSX2): c.*102C> T single nucleotide variant Uncertain significance rs886060426 5:174156688-174156688 5:174729685-174729685
50 MSX2 NM_002449.5(MSX2): c.*601C> T single nucleotide variant Uncertain significance rs886060430 5:174157187-174157187 5:174730184-174730184

Copy number variations for Craniosynostosis from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 97908 16 14700000 16700000 Duplication or delet ion Craniosynostosis
2 112785 17 41062469 41719833 Deletion Craniosynostosis
3 142095 2 219500000 222200000 Duplication IHH Craniosynostosis

Expression for Craniosynostosis

Search GEO for disease gene expression data for Craniosynostosis.

Pathways for Craniosynostosis

Pathways related to Craniosynostosis according to GeneCards Suite gene sharing:

(show all 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 TCF12 SKI IL11RA FGFR3 FGFR2 FGFR1
2
Show member pathways
13.49 TCF12 FGFR3 FGFR2 FGFR1 FGF8 FGF2
3
Show member pathways
13.39 IL11RA FGFR3 FGFR2 FGFR1 FGF8 FGF2
4
Show member pathways
13.34 TWIST1 IL11RA FGFR3 FGFR2 FGFR1 FGF8
5
Show member pathways
13.28 TCF12 IL11RA FGFR3 FGFR2 FGFR1 FGF8
6
Show member pathways
13.06 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
7
Show member pathways
13.04 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
8
Show member pathways
12.97 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
9
Show member pathways
12.84 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
10 12.82 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
11
Show member pathways
12.75 FGFR2 FGFR1 FGF8 FGF2 FGF10
12 12.74 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
13
Show member pathways
12.71 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
14
Show member pathways
12.7 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
15
Show member pathways
12.68 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
16
Show member pathways
12.67 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
17 12.61 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
18
Show member pathways
12.55 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
19
Show member pathways
12.53 ZNF462 SMAD6 NOG FGFR1 FGF8
20
Show member pathways
12.45 TCF12 NOG FGFR2 FGF2
21
Show member pathways
12.38 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
22
Show member pathways
12.38 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
23
Show member pathways
12.31 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
24
Show member pathways
12.31 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
25
Show member pathways
12.24 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
26
Show member pathways
12.21 FGFR3 FGFR2 FGFR1 FGF2
27
Show member pathways
12.18 IL11RA FGFR3 FGFR2 FGFR1
28 12.12 IL11RA FGFR3 FGFR2 FGFR1
29 12.1 FGFR3 FGFR2 FGFR1 FGF2
30 12.09 FGFR3 FGFR2 FGFR1 FGF2 EFNB1
31
Show member pathways
12.09 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
32
Show member pathways
11.96 SKI FGFR3 FGFR2 FGFR1 FGF8 FGF2
33
Show member pathways
11.83 FGFR1 FGF8 FGF2
34
Show member pathways
11.83 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
35
Show member pathways
11.73 SMAD6 SKI NOG
36 11.72 FGFR3 FGFR2 FGFR1 FGF2 EFNB1
37 11.7 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
38 11.69 FGFR3 FGFR2 FGFR1
39 11.67 FGFR3 FGFR1 FGF2
40 11.61 SMAD6 SKI NOG
41
Show member pathways
11.61 FGFR3 FGF8 FGF2
42 11.55 FGFR3 FGFR1 FGF8 FGF2 FGF10
43 11.49 NOG FGF8 FGF2 FGF10
44 11.48 FGFR3 FGFR2 FGFR1
45 11.41 FGFR3 FGFR2 FGFR1 FGF2
46 11.23 ZIC1 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
47 11.02 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
48 10.58 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10

GO Terms for Craniosynostosis

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.55 ZNF462 ZIC1 TWIST1 TCF12 SMAD6 SKI
2 transcription factor complex GO:0005667 9.46 TCF12 SMAD6 SKI ALX4
3 receptor complex GO:0043235 9.26 IL11RA FGFR3 FGFR2 FGFR1

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

(show top 50) (show all 89)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.98 FGFR3 FGFR2 FGF8 FGF2 FGF10
2 lung development GO:0030324 9.96 FGFR2 FGFR1 FGF8 FGF10
3 negative regulation of cell differentiation GO:0045596 9.95 TWIST1 SKI NOG FGF10
4 osteoblast differentiation GO:0001649 9.94 TWIST1 NOG MSX2
5 muscle organ development GO:0007517 9.94 TWIST1 TCF12 ALX4
6 negative regulation of apoptotic process GO:0043066 9.94 TWIST1 SMAD6 MSX2 FGF8
7 positive regulation of epithelial cell proliferation GO:0050679 9.94 TWIST1 NOG FGFR2 FGF10
8 neural tube closure GO:0001843 9.93 TWIST1 SKI NOG
9 embryonic digit morphogenesis GO:0042733 9.93 TWIST1 NOG MSX2 ALX4
10 embryonic limb morphogenesis GO:0030326 9.93 TWIST1 SKI MSX2 FGFR1
11 roof of mouth development GO:0060021 9.92 TWIST1 SKI ALX4
12 pattern specification process GO:0007389 9.92 ZIC1 NOG ALX4
13 somatic stem cell population maintenance GO:0035019 9.92 SKI NOG FGF2 FGF10
14 wound healing GO:0042060 9.92 NOG MSX2 FGFR2 FGF2 FGF10
15 bone development GO:0060348 9.91 TWIST1 FGFR2 FGF8
16 negative regulation of osteoblast differentiation GO:0045668 9.91 TWIST1 SMAD6 SKI NOG
17 outflow tract morphogenesis GO:0003151 9.9 NOG MSX2 FGF8
18 negative regulation of BMP signaling pathway GO:0030514 9.9 SMAD6 SKI NOG
19 positive regulation of cell division GO:0051781 9.9 FGFR2 FGF8 FGF2
20 positive chemotaxis GO:0050918 9.9 FGF8 FGF2 FGF10
21 skeletal system morphogenesis GO:0048705 9.89 FGFR2 FGFR1 ALX4
22 ureteric bud development GO:0001657 9.89 SMAD6 NOG FGFR2 FGFR1
23 positive regulation of Wnt signaling pathway GO:0030177 9.88 SKI FGFR2 FGF10
24 positive regulation of cardiac muscle cell proliferation GO:0060045 9.88 FGFR2 FGFR1 FGF2
25 BMP signaling pathway GO:0030509 9.88 SMAD6 SKI NOG MSX2 FGF8
26 digestive tract development GO:0048565 9.87 FGFR2 FGF10 ALX4
27 embryonic forelimb morphogenesis GO:0035115 9.87 TWIST1 MSX2 ALX4
28 odontogenesis GO:0042476 9.85 TWIST1 MSX2 FGFR2 FGF8
29 positive regulation of protein kinase B signaling GO:0051897 9.85 FGFR3 FGFR2 FGFR1 FGF8 FGF2 FGF10
30 regulation of smoothened signaling pathway GO:0008589 9.84 ZIC1 FGFR2 FGF10
31 bone morphogenesis GO:0060349 9.84 SKI MSX2 FGFR3 FGFR2
32 limb morphogenesis GO:0035108 9.83 FGF8 FGF10 ALX4
33 lung morphogenesis GO:0060425 9.83 NOG FGF8 FGF10
34 embryonic pattern specification GO:0009880 9.83 FGFR2 FGF10 EFNB1
35 outflow tract septum morphogenesis GO:0003148 9.81 SMAD6 MSX2 FGFR2 FGF8
36 organ induction GO:0001759 9.8 FGFR1 FGF8 FGF10
37 embryonic hindlimb morphogenesis GO:0035116 9.8 TWIST1 MSX2 FGF8 ALX4
38 mesenchymal cell differentiation GO:0048762 9.78 NOG FGFR2 FGFR1
39 embryonic digestive tract morphogenesis GO:0048557 9.77 FGFR2 FGF10
40 endocardial cushion morphogenesis GO:0003203 9.77 TWIST1 NOG
41 positive regulation of phospholipase activity GO:0010518 9.77 FGFR3 FGFR2 FGFR1
42 positive regulation of phospholipase C activity GO:0010863 9.76 FGFR1 FGF2
43 mesonephros development GO:0001823 9.76 FGF8 FGF10
44 generation of neurons GO:0048699 9.76 FGFR1 FGF8
45 organ growth GO:0035265 9.76 FGFR2 FGF10
46 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 9.76 SMAD6 NOG
47 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.76 MSX2 FGF8
48 limb bud formation GO:0060174 9.75 FGFR2 FGF10
49 salivary gland morphogenesis GO:0007435 9.75 FGFR1 FGF10
50 membranous septum morphogenesis GO:0003149 9.75 NOG FGFR2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.99 ZIC1 TWIST1 TCF12 SMAD6 ERF ALX4
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.91 ZNF462 ZIC1 TWIST1 TCF12 SMAD6 SKI
3 heparin binding GO:0008201 9.73 FGFR2 FGFR1 FGF2 FGF10
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.63 FGFR3 FGFR2 FGFR1
5 chemoattractant activity GO:0042056 9.54 FGF8 FGF2 FGF10
6 HMG box domain binding GO:0071837 9.52 TCF12 ALX4
7 fibroblast growth factor receptor binding GO:0005104 9.5 FGF8 FGF2 FGF10
8 receptor-receptor interaction GO:0090722 9.4 FGFR1 FGF2
9 fibroblast growth factor binding GO:0017134 9.33 FGFR3 FGFR2 FGFR1
10 transmembrane signaling receptor activity GO:0004888 9.19 IL11RA
11 fibroblast growth factor-activated receptor activity GO:0005007 9.13 FGFR3 FGFR2 FGFR1
12 protein tyrosine kinase activity GO:0004713 8.8 FGFR3 FGFR2 FGFR1
13 DNA binding GO:0003677 10.08 ZNF462 ZIC1 TWIST1 TCF12 SMAD6 MSX2

Sources for Craniosynostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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