MCID: CRN037
MIFTS: 67

Craniosynostosis

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

Aliases & Classifications for Craniosynostosis

MalaCards integrated aliases for Craniosynostosis:

Name: Craniosynostosis 38 12 76 53 54 37 29 55 6 15 40 73
Craniosynostosis Syndrome 29 6
Premature Closure of Cranial Sutures 12
Craniosynostoses 44
Craniostenosis 53
Cso 53

Classifications:



External Ids:

Disease Ontology 12 DOID:2340
ICD10 33 Q75.0
MeSH 44 D003398
NCIt 50 C84655
KEGG 37 H00458
UMLS 73 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 Developmental Biology and TGF-Beta Pathway. The drugs Tranexamic Acid and Antifibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include Bone and Bone, and related phenotypes are behavior/neurological and growth/size/body region

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.

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

Wikipedia : 76 Craniosynostosis (from cranio, cranium; + syn, together; + ostosis relating to bone) is a condition in... 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 294)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 1 34.4 ERF TWIST1
2 jackson-weiss syndrome 33.9 FGFR1 FGFR2 FGFR3
3 beare-stevenson cutis gyrata syndrome 32.7 FGFR2 FGFR3
4 saethre-chotzen syndrome 32.6 FGFR1 FGFR2 FGFR3 MSX2 RECQL4 TWIST1
5 osteoglophonic dysplasia 32.5 FGFR1 FGFR2 FGFR3
6 pfeiffer syndrome 32.3 FGF10 FGF8 FGFR1 FGFR2 FGFR3 TWIST1
7 apert syndrome 32.1 FGF10 FGF2 FGFR1 FGFR2 FGFR3 TWIST1
8 isolated plagiocephaly 32.0 FGFR3 TCF12 TWIST1 ZIC1
9 crouzon syndrome 31.9 ERF FGF2 FGFR1 FGFR2 FGFR3 IL11RA
10 chromosome 2q35 duplication syndrome 31.8 FGFR2 FGFR3 NOG
11 lacrimoauriculodentodigital syndrome 31.4 FGF10 FGF8 FGFR1 FGFR2 FGFR3
12 plagiocephaly 31.3 FGFR1 FGFR2 FGFR3 TWIST1
13 isolated scaphocephaly 31.1 ALX4 ERF TWIST1
14 achondroplasia 31.0 FGFR1 FGFR2 FGFR3
15 isolated brachycephaly 30.9 FGFR3 TCF12 TWIST1 ZIC1
16 muenke syndrome 30.9 EFNB1 FGF10 FGF2 FGF8 FGFR1 FGFR2
17 hypochondroplasia 30.6 FGFR1 FGFR2 FGFR3
18 parietal foramina 30.3 ALX4 MSX2 RECQL4 TWIST1
19 holoprosencephaly 29.7 FGF8 FGFR1 NOG ZIC1
20 hypospadias 29.5 FGF10 FGF8 FGFR2
21 hypertelorism 29.3 EFNB1 FGFR2 TWIST1
22 synostosis 28.1 EFNB1 FGFR1 FGFR2 FGFR3 MSX2 NELL1
23 shprintzen-goldberg craniosynostosis syndrome 12.3
24 craniosynostosis 2 12.2
25 craniosynostosis 4 12.2
26 craniosynostosis 5 12.1
27 craniosynostosis 7 12.1
28 craniosynostosis and dental anomalies 12.1
29 holoprosencephaly, semilobar, with craniosynostosis 12.1
30 craniosynostosis 3 12.1
31 craniosynostosis 6 12.1
32 baller-gerold syndrome 12.1
33 dandy-walker malformation with sagittal craniosynostosis and hydrocephalus 12.0
34 craniosynostosis, adelaide type 11.9
35 herrmann opitz craniosynostosis 11.9
36 craniosynostosis-cataract syndrome 11.8
37 craniosynostosis philadelphia type 11.8
38 fgfr-related craniosynostosis syndromes 11.8
39 craniosynostosis with ectopia lentis 11.8
40 craniosynostosis-mental retardation-clefting syndrome 11.8
41 hunter-mcalpine craniosynostosis syndrome 11.8
42 craniosynostosis with fibular aplasia 11.7
43 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 11.7
44 craniosynostosis, calcification of basal ganglia, and facial dysmorphism 11.7
45 glass-chapman-hockley syndrome 11.7
46 craniosynostosis with anomalies of the cranial base and digits 11.7
47 craniosynostosis-mental retardation syndrome of lin and gettig 11.7
48 craniosynostosis syndrome, autosomal recessive 11.7
49 craniosynostosis with ocular abnormalities and hallucal defects 11.7
50 congenital craniosynostosis maternal hyperthyroiditis 11.7

Graphical network of the top 20 diseases related to Craniosynostosis:



Diseases related to Craniosynostosis

Symptoms & Phenotypes for Craniosynostosis

MGI Mouse Phenotypes related to Craniosynostosis:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.43 ALX4 FGF10 TWIST1 ZIC1 FGFR2 MSX2
2 growth/size/body region MP:0005378 10.41 ERF ALX4 FGF10 EFNB1 ZIC1 MSX2
3 craniofacial MP:0005382 10.4 ALX4 ERF FGF10 EFNB1 MSX2 FGFR3
4 mortality/aging MP:0010768 10.36 ALX4 ERF FGF10 EFNB1 ZIC1 MSX2
5 cellular MP:0005384 10.35 EFNB1 ERF TWIST1 FGFR3 FGFR2 FGFR1
6 digestive/alimentary MP:0005381 10.33 ALX4 FGF10 EFNB1 NOG MSX2 FGFR3
7 cardiovascular system MP:0005385 10.32 ERF FGF10 TWIST1 FGFR2 MSX2 FGFR1
8 embryo MP:0005380 10.31 ERF ALX4 FGF10 EFNB1 TWIST1 FGFR2
9 hematopoietic system MP:0005397 10.26 ERF FGF10 EFNB1 FGFR2 MSX2 FGFR3
10 endocrine/exocrine gland MP:0005379 10.22 EFNB1 FGF10 FGFR2 MSX2 FGFR1 FGF8
11 nervous system MP:0003631 10.2 ERF ALX4 FGF10 EFNB1 ZIC1 FGFR2
12 limbs/digits/tail MP:0005371 10.17 ALX4 FGF10 EFNB1 MSX2 FGFR3 NOG
13 hearing/vestibular/ear MP:0005377 10.15 FGF10 EFNB1 FGFR2 MSX2 FGFR3 FGFR1
14 muscle MP:0005369 10.15 ALX4 FGF10 ZIC1 NOG MSX2 FGF8
15 integument MP:0010771 10.11 EFNB1 ALX4 FGFR3 FGFR2 MSX2 FGFR1
16 normal MP:0002873 9.96 ERF ALX4 FGF10 FGFR2 MSX2 FGFR3
17 skeleton MP:0005390 9.86 ALX4 ERF FGF10 EFNB1 ZIC1 MSX2
18 respiratory system MP:0005388 9.81 ALX4 FGF10 EFNB1 FGFR2 NELL1 FGFR3
19 vision/eye MP:0005391 9.4 ALX4 FGF10 EFNB1 NOG MSX2 FGFR3

Drugs & Therapeutics for Craniosynostosis

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

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4,Phase 3,Not Applicable 1197-18-8 5526
2 Antifibrinolytic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
3 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
4 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
5 Skullcap Nutraceutical Phase 4,Phase 1
6
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
7
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
8
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
9
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
10
Etoposide Approved Phase 3 33419-42-0 36462
11
Isotretinoin Approved Phase 3 4759-48-2 5538 5282379
12
Lenograstim Approved, Investigational Phase 3 135968-09-1
13
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
14
Melphalan Approved Phase 3 148-82-3 4053 460612
15
Topotecan Approved, Investigational Phase 3 119413-54-6, 123948-87-8 60700
16
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
17
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538 444795
18
Doxil Approved June 1999 Phase 3 31703
19 Adjuvants, Immunologic Phase 3
20 Alkylating Agents Phase 3
21 Anti-Bacterial Agents Phase 3
22 Antibiotics, Antitubercular Phase 3
23 Antimitotic Agents Phase 3
24 Antineoplastic Agents, Alkylating Phase 3
25 Antineoplastic Agents, Phytogenic Phase 3
26 Antirheumatic Agents Phase 3
27 Dermatologic Agents Phase 3
28 Etoposide phosphate Phase 3
29 Immunosuppressive Agents Phase 3
30 topoisomerase I inhibitors Phase 3
31 Topoisomerase Inhibitors Phase 3
32 phenylalanine Nutraceutical Phase 3
33
Aminocaproic Acid Approved, Investigational Phase 2,Phase 1 60-32-2 564
34
Iron Approved Not Applicable 7439-89-6 23925
35 Analgesics
36 Peripheral Nervous System Agents
37
Bilirubin Not Applicable 635-65-4 5280352
38 Epoetin alfa Not Applicable 113427-24-0
39 Ferrous fumarate Not Applicable
40 Hematinics Not Applicable
41 Micronutrients Not Applicable
42 Trace Elements Not Applicable
43 Calcium, Dietary Not Applicable
44 Calamus Nutraceutical Not Applicable

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Completed NCT02188576 Phase 4 high dose TXA;Low dose TXA
2 Tranexamic Acid for Craniofacial Surgery Terminated NCT00722436 Phase 4 Tranexamic acid;saline
3 Comparison of a Bone Product to Bone Dust in Ossification of Small Calvarial Defects. Withdrawn NCT01006148 Phase 4
4 Blood Loss and Transfusion Requirement in Infants Treated With Tranexamic Acid Unknown status NCT01094977 Phase 3 Tranexamic Acid;Tranexamic Acid;Saline Placebo
5 Combination Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Neuroblastoma Completed NCT00004188 Phase 3 carboplatin;cisplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;isotretinoin;melphalan;topotecan hydrochloride;vincristine sulfate
6 Efficacy of Amicar for Children Having Craniofacial Surgery Active, not recruiting NCT02229968 Phase 2 Amicar (ε-aminocaproic acid);normal saline
7 Amicar Pharmacokinetics of Children Having Craniofacial Surgery Completed NCT00912119 Phase 1 Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid
8 The Effect of Gender on the Consumption of Pain Medication in Infants Undergoing Craniosynostosis Repair or Untethering of Cord in ITU Unknown status NCT01996163
9 Non-invasive Epicutaneous Transfontanel Intracranial Pressure Monitoring in Children Under the Age of One: a Novel Technique Unknown status NCT02775669
10 Qualitative and Quantitative Study Which Aims to Determine the Specifics of the Announcement for the Diagnosis of Patients With Craniosynostosis and Their Parents to Better Support Them in Their Care Completed NCT02287805
11 Genetic Analysis of Craniosynostosis, Philadelphia Type Completed NCT00367796
12 Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary Results Completed NCT01672619
13 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321 Not Applicable Tranexamic Acid;normal saline
14 Child and Infant Learning Project Completed NCT00077831
15 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650 Not Applicable
16 Genetic Analysis of Craniofrontonasal Syndrome Completed NCT00339846
17 Genomic Profiling of the Residual Disease of Advanced-stage Ovarian Cancer After Neoadjuvant Chemotherapy Completed NCT03491033 chemotherapy
18 Detection and Quantification of Neonatal Intraventricular Hemorrhage Completed NCT01899651
19 Treatment of Cranial Molding Deformities in Preterm Infants Completed NCT02366936 Not Applicable
20 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
21 Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones Recruiting NCT03025763
22 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 Not Applicable Ferrous fumarate
23 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
24 Irradiated Blood Versus Non Irradiated Blood Transfusions in Craniosynostosis Repair Recruiting NCT02483702 Not Applicable
25 Optic Nerve Sheath Diameter in Craniosynostosis Recruiting NCT03131245
26 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
27 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
28 Osteogenic Profiling of Tissue From Children With Craniosynostosis Active, not recruiting NCT00773643 Not Applicable
29 Bioimpedance and Hand-held Echocardiographay for Clinical Decision-making in Treatment of Cardio-renal Syndrome Type I Not yet recruiting NCT02959281 Not Applicable
30 Cranial Cup Use for the Prevention of Positional Head Shape Deformity in the NICU Terminated NCT01218087 Not Applicable
31 Endoscopic Treatment for Isolated, Single Suture Craniosynostosis Withdrawn NCT00769847
32 Hanger Helmet Study Withdrawn NCT02561728 Not Applicable

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, Skin, Testes, Prostate, Heart
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 984)
# Title Authors Year
1
Retrospective study on midfacial advancement in syndromic craniosynostosis: case series. ( 29345318 )
2018
2
Atypical Skin Manifestations in <i>FGFR2</i>-Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum. ( 29928180 )
2018
3
Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling. ( 29392564 )
2018
4
Craniosynostosis as the Presenting Feature of X-linked Hypophosphatemic Rickets. ( 29610183 )
2018
5
Early postoperative follow-up after craniosynostosis surgery ( 29914256 )
2018
6
Surgical Outcome After Less &amp;quot;Rigid&amp;quot; Fixation in Open Cranial Vault Remodeling for Craniosynostosis. ( 29438206 )
2018
7
Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family. ( 29150894 )
2018
8
Postoperative analgesia for craniosynostosis reconstruction: Scalp nerve block or local anesthetic infiltration? ( 29870135 )
2018
9
Non-syndromic craniosynostosis in children: Scoping review. ( 29924758 )
2018
10
IL11RA-related Crouzon-like autosomal recessive craniosynostosis in ten new patients: resemblances and differences. ( 29926465 )
2018
11
A systematic review and meta-analysis of endoscopic versus open treatment of craniosynostosis. Part 1: the sagittal suture. ( 29979135 )
2018
12
Intracranial Migration of Hardware 16 Years Following Craniosynostosis Repair. ( 29391921 )
2018
13
CT Imaging Findings after Craniosynostosis Reconstructive Surgery. ( 29874675 )
2018
14
A systematic review of endoscopic versus open treatment of craniosynostosis. Part 2: the nonsagittal single sutures. ( 29979132 )
2018
15
Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation. ( 29845577 )
2018
16
Endoscopic surgery for nonsyndromic craniosynostosis: a 16-year single-center experience. ( 29979128 )
2018
17
Development of synthetic simulators for endoscope-assisted repair of metopic and sagittal craniosynostosis. ( 29856293 )
2018
18
Minimally invasive approaches to craniosynostosis. ( 29790726 )
2018
19
Noonan syndrome with multiple lentigines and associated craniosynostosis. ( 29356064 )
2018
20
Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis. ( 29351036 )
2018
21
The influence of suturectomy on age-related changes in cerebral blood flow in rabbits with familial bicoronal suture craniosynostosis: A quantitative analysis. ( 29856748 )
2018
22
Craniosynostosis Surgery and the Impact of Tranexamic Acid Dosing. ( 29194278 )
2018
23
Use of neuroimaging measurements of optic nerve sheath diameter to assess intracranial pressure in craniosynostosis. ( 29380112 )
2018
24
A Survey of Orthodontic Treatment in Team Care for Patients With Syndromic Craniosynostosis in Japan. ( 29351022 )
2018
25
Choanal Atresia and Craniosynostosis: Development and Disease. ( 29280877 )
2018
26
Molecular Analysis of Gli3, Ihh, Rab23, and Jag1 in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin. ( 29437519 )
2018
27
The Effect of Midface Advancement Surgery on Obstructive Sleep Apnoea in Syndromic Craniosynostosis. ( 29286994 )
2018
28
3D morphological change of skull base and fronto-temporal soft-tissue in the patients with unicoronal craniosynostosis after fronto-orbital advancement. ( 29335798 )
2018
29
Evaluating the National Surgical Quality Improvement Program-Pediatric Surgical Risk Calculator for Pediatric Craniosynostosis Surgery. ( 29877982 )
2018
30
Serious Complications After Le Fort III Distraction Osteogenesis in Syndromic Craniosynostosis: Evolution of Preventive and Therapeutic Strategies. ( 29944568 )
2018
31
The Temporal Region in Unilateral Coronal Craniosynostosis: Fronto-orbital Advancement Versus Endoscopy-Assisted Strip Craniectomy. ( 29437517 )
2018
32
Markedly Elevated Intracranial Pressure Treated With Cranial Vault Expansion, Instead of CSF Shunting, in a Child With Hurler-Scheie Syndrome and Multiple Suture Craniosynostosis. ( 29791186 )
2018
33
Laryngomalacia in Patients With Craniosynostosis. ( 29923418 )
2018
34
Proptosis Correction in Pre-Adolescent Patients With Syndromic Craniosynostosis by Le Fort III Distraction Osteogenesis. ( 29771833 )
2018
35
Incomplete reossification after craniosynostosis surgery-incidence and analysis of risk factors: a clinical-radiological assessment study. ( 29799353 )
2018
36
Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis. ( 29037998 )
2018
37
Endoscopic versus open approach in craniosynostosis repair: a systematic review and meta-analysis of perioperative outcomes. ( 29961085 )
2018
38
Craniosynostosis and Guanine Nucleotide-binding Protein Alpha Stimulating Mutation: Risk of Bleeding Diathesis and Circulatory Collapse in Patients Undergoing Cranial Vault Reconstruction. ( 28358762 )
2017
39
A Craniometric Analysis of Cranial Base and Cranial Vault Differences in Patients With Metopic Craniosynostosis. ( 28922245 )
2017
40
Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia. ( 28600064 )
2017
41
OCT-documented optic atrophy in nonsyndromic craniosynostosis and lacunar skull. ( 28087347 )
2017
42
Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report. ( 28328806 )
2017
43
Frontal Sinus Volume and Frontal Bar Position Are Associated in Unicoronal Craniosynostosis. ( 28350679 )
2017
44
A new method for three-dimensional evaluation of the cranial shape and the automatic identification of craniosynostosis using 3D stereophotogrammetry. ( 28392059 )
2017
45
Promoting ossification of calvarial defects in craniosynostosis surgery by demineralized bone plate and bone dust in different age groups. ( 27751830 )
2017
46
Biological response of human suture mesenchymal cells to Titania nanotube-based implants for advanced craniosynostosis therapy. ( 27883932 )
2017
47
Use of computer-assisted design and manufacturing to localize dural venous sinuses during reconstructive surgery for craniosynostosis. ( 28921242 )
2017
48
Determining the fate of cranial sutures after surgical correction ofA non-syndromic craniosynostosis. ( 28939204 )
2017
49
Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature. ( 28926972 )
2017
50
BMP9 induces osteogenesis and adipogenesis in the immortalized human cranial suture progenitors from the patent sutures of craniosynostosis patients. ( 28470873 )
2017

Variations for Craniosynostosis

ClinVar genetic disease variations for Craniosynostosis:

6
(show top 50) (show all 451)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 GRCh37 Chromosome 10, 123276885: 123276885
2 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 GRCh38 Chromosome 10, 121517371: 121517371
3 FGFR2 NM_000141.4(FGFR2): c.1694A> C (p.Glu565Ala) single nucleotide variant Likely pathogenic rs121918506 GRCh37 Chromosome 10, 123256215: 123256215
4 FGFR2 NM_000141.4(FGFR2): c.1694A> C (p.Glu565Ala) single nucleotide variant Likely pathogenic rs121918506 GRCh38 Chromosome 10, 121496701: 121496701
5 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
6 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh38 Chromosome 4, 1804392: 1804392
7 FGFR3 NM_000142.4(FGFR3): c.1138G> C (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
8 FGFR3 NM_000142.4(FGFR3): c.1138G> C (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh38 Chromosome 4, 1804392: 1804392
9 FGFR3 NM_000142.4(FGFR3): c.1172C> A (p.Ala391Glu) single nucleotide variant Pathogenic rs28931615 GRCh37 Chromosome 4, 1806153: 1806153
10 FGFR3 NM_000142.4(FGFR3): c.1172C> A (p.Ala391Glu) single nucleotide variant Pathogenic rs28931615 GRCh38 Chromosome 4, 1804426: 1804426
11 FGFR3 NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
12 FGFR3 NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
13 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
14 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
15 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
16 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh38 Chromosome 4, 1801844: 1801844
17 FGFR3 NM_000142.4(FGFR3): c.1950G> C (p.Lys650Asn) single nucleotide variant Pathogenic rs28928868 GRCh37 Chromosome 4, 1807891: 1807891
18 FGFR3 NM_000142.4(FGFR3): c.1950G> C (p.Lys650Asn) single nucleotide variant Pathogenic rs28928868 GRCh38 Chromosome 4, 1806164: 1806164
19 FGFR3 NM_000142.4(FGFR3): c.1948A> C (p.Lys650Gln) single nucleotide variant Pathogenic rs78311289 GRCh37 Chromosome 4, 1807889: 1807889
20 FGFR3 NM_000142.4(FGFR3): c.1948A> C (p.Lys650Gln) single nucleotide variant Pathogenic rs78311289 GRCh38 Chromosome 4, 1806162: 1806162
21 FGFR3 NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu) single nucleotide variant Pathogenic rs397515514 GRCh37 Chromosome 4, 1808988: 1808988
22 FGFR3 NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu) single nucleotide variant Pathogenic rs397515514 GRCh38 Chromosome 4, 1807261: 1807261
23 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh37 Chromosome 4, 1807890: 1807890
24 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh38 Chromosome 4, 1806163: 1806163
25 FGFR1 NM_023110.2(FGFR1): c.2187-6C> T single nucleotide variant Benign/Likely benign rs4647904 GRCh37 Chromosome 8, 38271547: 38271547
26 FGFR1 NM_023110.2(FGFR1): c.2187-6C> T single nucleotide variant Benign/Likely benign rs4647904 GRCh38 Chromosome 8, 38414029: 38414029
27 FGFR1 NM_023110.2(FGFR1): c.2314C> T (p.Pro772Ser) single nucleotide variant Benign/Likely benign rs56234888 GRCh37 Chromosome 8, 38271301: 38271301
28 FGFR1 NM_023110.2(FGFR1): c.2314C> T (p.Pro772Ser) single nucleotide variant Benign/Likely benign rs56234888 GRCh38 Chromosome 8, 38413783: 38413783
29 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh37 Chromosome 10, 123325034: 123325034
30 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh38 Chromosome 10, 121565520: 121565520
31 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh37 Chromosome 10, 123325169: 123325169
32 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh38 Chromosome 10, 121565655: 121565655
33 FGFR3 NM_000142.4(FGFR3): c.252G> A (p.Ser84=) single nucleotide variant Conflicting interpretations of pathogenicity rs367973461 GRCh37 Chromosome 4, 1801123: 1801123
34 FGFR3 NM_000142.4(FGFR3): c.252G> A (p.Ser84=) single nucleotide variant Conflicting interpretations of pathogenicity rs367973461 GRCh38 Chromosome 4, 1799396: 1799396
35 FGFR3 NM_000142.4(FGFR3): c.348C> T (p.Arg116=) single nucleotide variant Benign rs2305179 GRCh37 Chromosome 4, 1801219: 1801219
36 FGFR3 NM_000142.4(FGFR3): c.348C> T (p.Arg116=) single nucleotide variant Benign rs2305179 GRCh38 Chromosome 4, 1799492: 1799492
37 FGFR1 NM_023110.2(FGFR1): c.320C> T (p.Ser107Leu) single nucleotide variant Benign/Likely benign rs140382957 GRCh37 Chromosome 8, 38287238: 38287238
38 FGFR1 NM_023110.2(FGFR1): c.320C> T (p.Ser107Leu) single nucleotide variant Benign/Likely benign rs140382957 GRCh38 Chromosome 8, 38429720: 38429720
39 FGFR1 NM_023110.2(FGFR1): c.345C> T (p.Ser115=) single nucleotide variant Benign/Likely benign rs2915665 GRCh37 Chromosome 8, 38287213: 38287213
40 FGFR1 NM_023110.2(FGFR1): c.345C> T (p.Ser115=) single nucleotide variant Benign/Likely benign rs2915665 GRCh38 Chromosome 8, 38429695: 38429695
41 FGFR3 NM_000142.4(FGFR3): c.615+8C> G single nucleotide variant Benign rs17878375 GRCh37 Chromosome 4, 1803271: 1803271
42 FGFR3 NM_000142.4(FGFR3): c.615+8C> G single nucleotide variant Benign rs17878375 GRCh38 Chromosome 4, 1801544: 1801544
43 FGFR3 NM_000142.4(FGFR3): c.588C> T (p.Arg196=) single nucleotide variant Benign rs2305180 GRCh37 Chromosome 4, 1803236: 1803236
44 FGFR3 NM_000142.4(FGFR3): c.588C> T (p.Arg196=) single nucleotide variant Benign rs2305180 GRCh38 Chromosome 4, 1801509: 1801509
45 FGFR3 NM_000142.4(FGFR3): c.678C> T (p.Tyr226=) single nucleotide variant Benign rs141575580 GRCh37 Chromosome 4, 1803409: 1803409
46 FGFR3 NM_000142.4(FGFR3): c.678C> T (p.Tyr226=) single nucleotide variant Benign rs141575580 GRCh38 Chromosome 4, 1801682: 1801682
47 FGFR3 NM_000142.4(FGFR3): c.393G> A (p.Ser131=) single nucleotide variant Benign/Likely benign rs55662109 GRCh38 Chromosome 4, 1799760: 1799760
48 FGFR3 NM_000142.4(FGFR3): c.393G> A (p.Ser131=) single nucleotide variant Benign/Likely benign rs55662109 GRCh37 Chromosome 4, 1801487: 1801487
49 FBN2 NM_001999.3(FBN2): c.6946A> T (p.Ile2316Phe) single nucleotide variant Uncertain significance rs201220519 GRCh38 Chromosome 5, 128286784: 128286784
50 FBN2 NM_001999.3(FBN2): c.6946A> T (p.Ile2316Phe) single nucleotide variant Uncertain significance rs201220519 GRCh37 Chromosome 5, 127622476: 127622476

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 47)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 EFNB1 FGF10 FGF2 FGF8 FGFR1 FGFR2
2
Show member pathways
13.47 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
3
Show member pathways
13.39 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
4
Show member pathways
13.35 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
5
Show member pathways
13.24 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
6
Show member pathways
13.1 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
7
Show member pathways
13.05 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
8
Show member pathways
13.04 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
9
Show member pathways
12.96 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.85 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
11 12.81 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.76 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.75 FGF10 FGF2 FGF8 FGFR1 FGFR2 TGFBR2
14
Show member pathways
12.72 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.71 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
16 12.69 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
17
Show member pathways
12.67 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
18 12.6 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.55 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.51 FGF8 FGFR1 NOG SMAD6 ZNF462
21
Show member pathways
12.46 FGF2 FGFR2 NOG TCF12 TGFBR2
22
Show member pathways
12.42 FGFR1 FGFR2 FGFR3 TGFBR2
23
Show member pathways
12.4 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
24
Show member pathways
12.29 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
25
Show member pathways
12.28 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
26
Show member pathways
12.21 FGF2 FGFR1 FGFR2 FGFR3
27 12.14 FGFR1 FGFR2 FGFR3 IL11RA
28 12.1 EFNB1 FGF2 FGFR1 FGFR2 FGFR3
29 12.09 FGF2 FGFR1 FGFR2 FGFR3
30
Show member pathways
12.05 FGFR1 FGFR2 FGFR3
31
Show member pathways
12.02 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
32
Show member pathways
11.93 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
33
Show member pathways
11.83 FGF2 FGF8 FGFR1
34 11.79 NOG SMAD6 TGFBR2
35 11.67 EFNB1 FGF2 FGFR1 FGFR2 FGFR3
36 11.66 FGFR1 FGFR2 FGFR3
37 11.66 FGF2 FGFR1 FGFR3
38
Show member pathways
11.63 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
39
Show member pathways
11.61 FGF2 FGF8 FGFR3
40 11.6 NOG SMAD6 TGFBR2
41 11.52 FGF2 FGFR1 TGFBR2
42 11.48 FGFR1 FGFR2 FGFR3
43 11.48 FGF10 FGF2 FGF8 NOG
44 11.45 FGF10 FGF2 FGF8 FGFR1 FGFR3
45 11.38 FGF2 FGFR1 FGFR2 FGFR3
46 11.23 FGF2 FGF8 FGFR1 FGFR2 FGFR3 MSX2
47 11.2 FGF2 FGFR1 TGFBR2

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 9.53 ALX4 EFNB1 ERF FGF10 FGF2 FGFR1
2 receptor complex GO:0043235 9.26 FGFR1 FGFR2 FGFR3 TGFBR2

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

(show top 50) (show all 95)
# Name GO ID Score Top Affiliating Genes
1 peptidyl-tyrosine phosphorylation GO:0018108 9.99 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
2 BMP signaling pathway GO:0030509 9.97 FGF8 MSX2 NOG SMAD6
3 positive regulation of protein kinase B signaling GO:0051897 9.97 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
4 osteoblast differentiation GO:0001649 9.95 MSX2 NOG TWIST1
5 muscle organ development GO:0007517 9.95 ALX4 TCF12 TWIST1
6 positive regulation of epithelial cell proliferation GO:0050679 9.95 FGF10 FGFR2 NOG TWIST1
7 embryonic digit morphogenesis GO:0042733 9.94 ALX4 MSX2 NOG TWIST1
8 roof of mouth development GO:0060021 9.93 ALX4 TGFBR2 TWIST1
9 cartilage development GO:0051216 9.93 MSX2 NOG TGFBR2
10 positive regulation of kinase activity GO:0033674 9.93 FGFR1 FGFR2 FGFR3
11 outflow tract morphogenesis GO:0003151 9.93 FGF8 MSX2 NOG TGFBR2
12 lung development GO:0030324 9.93 FGF10 FGF8 FGFR1 FGFR2 TGFBR2
13 negative regulation of cell differentiation GO:0045596 9.92 FGF10 NOG TWIST1
14 somatic stem cell population maintenance GO:0035019 9.92 FGF10 FGF2 NOG
15 bone development GO:0060348 9.92 FGF8 FGFR2 TWIST1
16 embryonic limb morphogenesis GO:0030326 9.91 FGFR1 MSX2 TWIST1
17 pattern specification process GO:0007389 9.91 ALX4 NOG ZIC1
18 phosphatidylinositol phosphorylation GO:0046854 9.91 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
19 positive regulation of cell division GO:0051781 9.9 FGF2 FGF8 FGFR2
20 skeletal system morphogenesis GO:0048705 9.9 ALX4 FGFR1 FGFR2
21 ureteric bud development GO:0001657 9.9 FGFR1 FGFR2 NOG SMAD6
22 positive chemotaxis GO:0050918 9.89 FGF10 FGF2 FGF8
23 positive regulation of cardiac muscle cell proliferation GO:0060045 9.88 FGF2 FGFR1 FGFR2
24 digestive tract development GO:0048565 9.88 ALX4 FGF10 FGFR2 TGFBR2
25 embryonic cranial skeleton morphogenesis GO:0048701 9.87 FGFR2 TGFBR2 TWIST1
26 embryonic forelimb morphogenesis GO:0035115 9.87 ALX4 MSX2 TWIST1
27 bone morphogenesis GO:0060349 9.87 FGFR2 FGFR3 MSX2
28 positive regulation of mesenchymal cell proliferation GO:0002053 9.86 FGFR1 FGFR2 TGFBR2
29 embryonic pattern specification GO:0009880 9.86 EFNB1 FGF10 FGFR2
30 odontogenesis GO:0042476 9.85 FGF8 FGFR2 MSX2 TWIST1
31 inner ear morphogenesis GO:0042472 9.85 FGF10 FGF8 FGFR1 FGFR2 ZIC1
32 wound healing GO:0042060 9.85 FGF10 FGF2 FGFR2 MSX2 NOG TGFBR2
33 limb morphogenesis GO:0035108 9.84 ALX4 FGF10 FGF8
34 regulation of smoothened signaling pathway GO:0008589 9.83 FGF10 FGFR2 ZIC1
35 embryonic hindlimb morphogenesis GO:0035116 9.83 ALX4 FGF8 MSX2 TWIST1
36 organ induction GO:0001759 9.81 FGF10 FGF8 FGFR1
37 membranous septum morphogenesis GO:0003149 9.8 FGFR2 NOG TGFBR2
38 fibroblast growth factor receptor signaling pathway GO:0008543 9.8 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
39 mesenchymal cell differentiation GO:0048762 9.79 FGFR1 FGFR2 NOG
40 lung morphogenesis GO:0060425 9.78 FGF10 FGF8 NOG TGFBR2
41 endocardial cushion morphogenesis GO:0003203 9.77 NOG TWIST1
42 generation of neurons GO:0048699 9.77 FGF8 FGFR1
43 mesonephros development GO:0001823 9.77 FGF10 FGF8
44 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.77 FGF8 MSX2
45 positive regulation of phospholipase activity GO:0010518 9.77 FGFR1 FGFR2 FGFR3
46 multicellular organism development GO:0007275 9.77 ALX4 EFNB1 FGF2 FGF8 FGFR1 FGFR2
47 organ growth GO:0035265 9.76 FGF10 FGFR2
48 limb bud formation GO:0060174 9.76 FGF10 FGFR2
49 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 9.76 NOG SMAD6
50 salivary gland morphogenesis GO:0007435 9.76 FGF10 FGFR1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.78 FGF10 FGF2 FGFR1 FGFR2
2 MAP kinase kinase kinase activity GO:0004709 9.73 FGFR1 FGFR2 FGFR3
3 protein tyrosine kinase activity GO:0004713 9.73 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
4 mitogen-activated protein kinase kinase binding GO:0031434 9.7 FGFR1 FGFR2 FGFR3
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.67 FGFR1 FGFR2 FGFR3
6 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.63 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
7 chemoattractant activity GO:0042056 9.61 FGF10 FGF2 FGF8
8 fibroblast growth factor receptor binding GO:0005104 9.58 FGF10 FGF2 FGF8
9 HMG box domain binding GO:0071837 9.57 ALX4 TCF12
10 type I transforming growth factor beta receptor binding GO:0034713 9.55 SMAD6 TGFBR2
11 fibroblast growth factor binding GO:0017134 9.54 FGFR1 FGFR2 FGFR3
12 fibroblast growth factor-activated receptor activity GO:0005007 9.5 FGFR1 FGFR2 FGFR3
13 receptor-receptor interaction GO:0090722 9.46 FGF2 FGFR1
14 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.43 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
15 1-phosphatidylinositol-3-kinase activity GO:0016303 9.1 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
16 DNA binding GO:0003677 10.19 ALX4 ERF MSX2 RECQL4 SMAD6 TCF12
17 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 10.11 ALX4 ERF MSX2 SMAD6 TCF12 TWIST1

Sources for Craniosynostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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