CSO
MCID: CRN037
MIFTS: 67

Craniosynostosis (CSO)

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

Aliases & Classifications for Craniosynostosis

MalaCards integrated aliases for Craniosynostosis:

Name: Craniosynostosis 12 73 20 53 58 54 15 39 70 32
Craniosynostosis Syndrome 29 6
Premature Closure of Cranial Sutures 12
Craniosynostoses 44
Craniostenosis 20
Cso 20

Characteristics:

Orphanet epidemiological data:

58
craniosynostosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:2340
MeSH 44 D003398
NCIt 50 C84655
SNOMED-CT 67 205414007
ICD10 32 Q75.0
MESH via Orphanet 45 D003398
ICD10 via Orphanet 33 Q75.0
UMLS via Orphanet 71 C0010278
Orphanet 58 ORPHA1531
UMLS 70 C0010278

Summaries for Craniosynostosis

GARD : 20 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 7 and muenke syndrome. An important gene associated with Craniosynostosis is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are ERK Signaling and TGF-Beta Pathway. The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include Bone, and related phenotypes are Decreased viability and Decreased viability

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

NINDS : 53 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 : 73 Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull... 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 666)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 7 32.9 SMAD6 BMP2
2 muenke syndrome 32.8 TWIST1 TCF12 MSX2 FGFR3 FGFR2 FGFR1
3 jackson-weiss syndrome 32.8 MSX2 FGFR3 FGFR2 FGFR1 FGF8 FGF10
4 osteoglophonic dysplasia 32.4 FGFR3 FGFR2 FGFR1
5 saethre-chotzen syndrome 32.4 ZIC1 TWIST1 TCF12 RECQL4 MSX2 FGFR3
6 pfeiffer syndrome 32.4 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
7 apert syndrome 32.4 TWIST1 TCF12 MSX2 FGFR3 FGFR2 FGFR1
8 syndromic craniosynostosis 32.4 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 ERF
9 craniosynostosis 1 32.2 ZNF462 TWIST1 TRPS1 TCF12 NPR2 GRIN2B
10 fgfr craniosynostosis syndromes 32.1 FGFR3 FGFR2 FGFR1
11 antley-bixler syndrome 32.1 FGFR3 FGFR2 FGFR1
12 crouzon syndrome 32.1 TWIST1 NPR2 MSX2 IL11RA FGFR3 FGFR2
13 chromosome 2q35 duplication syndrome 32.0 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
14 isolated plagiocephaly 32.0 ZIC1 TWIST1 TCF12 FGFR3
15 hartsfield syndrome 31.9 FGFR1 FGF8
16 synostosis 31.8 ZIC1 TWIST1 TCF12 SMAD6 RECQL4 MSX2
17 lacrimoauriculodentodigital syndrome 31.7 FGFR3 FGFR2 FGFR1 FGF8 FGF10
18 plagiocephaly 31.7 TWIST1 FGFR3 FGFR2 FGFR1
19 hypertelorism 31.3 TWIST1 FGFR2 ALX4
20 isolated oxycephaly 31.3 ZIC1 TWIST1 ERF
21 isolated scaphocephaly 31.1 TWIST1 ERF ALX4
22 achondroplasia 31.0 MSX2 FGFR3 FGFR2 FGFR1
23 dysostosis 30.9 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 ALX4
24 parietal foramina 30.8 ZIC1 TWIST1 RECQL4 MSX2 FGFR3 FGF8
25 isolated brachycephaly 30.8 ZIC1 TWIST1 TCF12 FGFR3
26 cleft palate, isolated 30.7 TWIST1 TGFBR1 MSX2 FGFR3 FGFR2 FGFR1
27 thanatophoric dysplasia, type i 30.6 NPR2 FGFR3 FGFR2 FGFR1 FGF8
28 hypochondroplasia 30.5 NPR2 FGFR3 FGFR2 FGFR1
29 holoprosencephaly 30.5 ZIC1 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
30 brachydactyly 30.5 TRPS1 NPR2 MSX2 FGFR3 BMP2
31 cleidocranial dysplasia 30.4 MSX2 FGFR2 FGFR1 BMP2
32 radioulnar synostosis 30.4 TWIST1 SMAD6 RECQL4 FGFR3 FGFR2 FGFR1
33 rasopathy 30.4 FGFR3 FGFR2 FGFR1 FGF8
34 achondroplasia, severe, with developmental delay and acanthosis nigricans 30.4 FGFR3 FGFR2 FGFR1
35 ankylosis 30.3 FGFR2 FGFR1 BMP2
36 kallmann syndrome 30.3 FGFR3 FGFR2 FGFR1 FGF8
37 bone disease 30.2 FGFR3 FGFR2 FGFR1 BMP2
38 hypospadias 30.2 FGFR2 FGF8 FGF10
39 tooth agenesis 30.2 MSX2 FGFR2 FGFR1 FGF8 FGF10 BMP2
40 scoliosis 30.1 ZIC1 NPR2 GRIN2B FGFR3 FGFR2
41 exposure keratitis 30.0 TCF12 FGFR2
42 odontochondrodysplasia 30.0 NPR2 MSX2 FGFR3 FGFR2 FGFR1 FGF8
43 renal hypodysplasia/aplasia 1 30.0 FGFR2 FGFR1 FGF8 FGF10
44 double outlet right ventricle 29.8 MSX2 FGF8 FGF10
45 shprintzen-goldberg craniosynostosis syndrome 11.6
46 craniosynostosis 2 11.6
47 baller-gerold syndrome 11.6
48 craniosynostosis and dental anomalies 11.5
49 craniosynostosis 5 11.5
50 craniosynostosis 4 11.4

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 (show all 39)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.27 FGFR1 FGFR3 TGFBR1
2 Decreased viability GR00221-A-2 10.27 FGFR1 FGFR3
3 Decreased viability GR00221-A-3 10.27 FGFR3
4 Decreased viability GR00221-A-4 10.27 TGFBR1
5 Decreased viability GR00249-S 10.27 FGF10 FGFR2 FGFR3 TGFBR1 TRPS1 TWIST1
6 Decreased viability GR00301-A 10.27 FGFR2
7 Decreased viability GR00342-S-1 10.27 FGFR2
8 Decreased viability GR00342-S-2 10.27 FGFR2
9 Decreased viability GR00342-S-3 10.27 FGFR2
10 Decreased viability GR00381-A-1 10.27 ZIC1
11 Decreased viability GR00386-A-1 10.27 ALX4 FGF10 FGFR1 ZNF462
12 Decreased viability GR00402-S-2 10.27 BMP2 TGFBR1 TWIST1 ZNF462
13 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.12 TWIST1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-119 10.12 TRPS1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-128 10.12 FGF8
16 Increased shRNA abundance (Z-score > 2) GR00366-A-131 10.12 TWIST1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.12 FGF8
18 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.12 FGF8
19 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.12 ERF
20 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.12 TRPS1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.12 TWIST1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.12 TRPS1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-18 10.12 ERF
24 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.12 FGF8
25 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.12 TRPS1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.12 TWIST1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-205 10.12 FGF8
28 Increased shRNA abundance (Z-score > 2) GR00366-A-206 10.12 TRPS1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.12 TRPS1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.12 ERF FGF8
31 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.12 FGF8
32 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.12 ERF TRPS1 TWIST1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.12 FGF8
34 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.12 ERF
35 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.12 TRPS1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.12 ERF
37 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.12 FGF8
38 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.12 TWIST1
39 Increased the percentage of infected cells GR00402-S-1 8.32 FGF8

MGI Mouse Phenotypes related to Craniosynostosis:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.51 ALX4 BMP2 ERF FGF10 FGF8 FGFR1
2 behavior/neurological MP:0005386 10.44 ALX4 FGF10 FGF8 FGFR1 FGFR2 FGFR3
3 digestive/alimentary MP:0005381 10.41 ALX4 BMP2 FGF10 FGF8 FGFR1 FGFR2
4 mortality/aging MP:0010768 10.4 ALX4 BMP2 ERF FGF10 FGF8 FGFR1
5 craniofacial MP:0005382 10.39 ALX4 BMP2 ERF FGF10 FGF8 FGFR1
6 cardiovascular system MP:0005385 10.36 BMP2 ERF FGF10 FGF8 FGFR1 FGFR2
7 embryo MP:0005380 10.34 ALX4 BMP2 ERF FGF10 FGF8 FGFR1
8 hematopoietic system MP:0005397 10.32 BMP2 ERF FGF10 FGF8 FGFR1 FGFR2
9 homeostasis/metabolism MP:0005376 10.31 BMP2 ERF FGF10 FGF8 FGFR1 FGFR2
10 immune system MP:0005387 10.29 BMP2 FGF10 FGF8 FGFR1 FGFR2 FGFR3
11 endocrine/exocrine gland MP:0005379 10.25 FGF10 FGF8 FGFR1 FGFR2 IL11RA MSX2
12 nervous system MP:0003631 10.22 ALX4 BMP2 ERF FGF10 FGF8 FGFR1
13 limbs/digits/tail MP:0005371 10.21 ALX4 BMP2 ERF FGF10 FGF8 FGFR1
14 integument MP:0010771 10.16 ALX4 FGF10 FGFR1 FGFR2 FGFR3 MSX2
15 muscle MP:0005369 10.11 ALX4 FGF10 FGF8 FGFR1 FGFR2 MSX2
16 hearing/vestibular/ear MP:0005377 10.07 BMP2 FGF10 FGF8 FGFR1 FGFR2 FGFR3
17 normal MP:0002873 9.96 ALX4 BMP2 ERF FGF10 FGF8 FGFR1
18 skeleton MP:0005390 9.83 ALX4 BMP2 ERF FGF10 FGF8 FGFR1
19 respiratory system MP:0005388 9.76 ALX4 FGF10 FGF8 FGFR2 FGFR3 NPR2
20 vision/eye MP:0005391 9.28 ALX4 FGF10 FGF8 FGFR1 FGFR2 FGFR3

Drugs & Therapeutics for Craniosynostosis

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

(show top 50) (show all 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
2
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
5
Tranexamic Acid Approved Phase 4 1197-18-8 5526
6 Dopamine Agents Phase 4
7 Psychotropic Drugs Phase 4
8 Neurotransmitter Agents Phase 4
9 Dopamine Antagonists Phase 4
10 Antipsychotic Agents Phase 4
11 Central Nervous System Stimulants Phase 4
12 Dopamine Uptake Inhibitors Phase 4
13 Antifibrinolytic Agents Phase 4
14 Hemostatics Phase 4
15 Coagulants Phase 4
16
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
17
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
18
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
19
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
20
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 6473866 445643 439492
21
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
22
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
23
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
24
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
25
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
26
Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
27
Parathyroid hormone Approved, Investigational Phase 1, Phase 2 9002-64-6
28
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
29
Diphenhydramine Approved, Investigational Phase 1, Phase 2 58-73-1, 147-24-0 3100
30
Aminocaproic acid Approved, Investigational Phase 2 60-32-2 564
31
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
32
Daclizumab Investigational, Withdrawn Phase 1, Phase 2 152923-56-3
33 Anesthetics Phase 1, Phase 2
34 Calcium, Dietary Phase 1, Phase 2
35 Antibiotics, Antitubercular Phase 1, Phase 2
36 Neuroprotective Agents Phase 1, Phase 2
37 Gastrointestinal Agents Phase 1, Phase 2
38 Anti-Infective Agents Phase 1, Phase 2
39 Immunologic Factors Phase 1, Phase 2
40 Hormone Antagonists Phase 1, Phase 2
41 Antiemetics Phase 1, Phase 2
42 Immunosuppressive Agents Phase 1, Phase 2
43 Antirheumatic Agents Phase 1, Phase 2
44 Methylprednisolone Acetate Phase 1, Phase 2
45 Thymoglobulin Phase 1, Phase 2
46 Hormones Phase 1, Phase 2
47 Antineoplastic Agents, Hormonal Phase 1, Phase 2
48 Cyclosporins Phase 1, Phase 2
49 Anti-Bacterial Agents Phase 1, Phase 2
50 glucocorticoids Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 53)
# 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 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
6 Phase II Study of Thymus Transplantation in Complete DiGeorge Syndrome #668 Completed NCT00576407 Phase 2
7 Phase I/II Trial of Thymus Transplantation With Immunosuppression, #950 Completed NCT00579527 Phase 1, Phase 2 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Daclizumab;Mycophenolate mofetil
8 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
9 Efficacy of ε-Aminocaproic Acid (EACA) in Children Undergoing Craniofacial Reconstruction Surgery Active, not recruiting NCT02229968 Phase 2 Amicar (ε-aminocaproic acid);normal saline
10 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
11 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Completed NCT00566488 Phase 1
12 Thymus Transplantation With Immunosuppression, #884 Completed NCT00579709 Phase 1
13 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
14 The Effect of Gender on the Consumption of Pain Medication in Infants Undergoing Craniosynostosis Repair or Untethering of Cord in ITU Unknown status NCT01996163
15 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
16 Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary Results Completed NCT01672619
17 Craniosynostosis: How to Improve the Diagnosis and Assist Patients and Their Families? Completed NCT02287805
18 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650
19 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321 Tranexamic Acid;normal saline
20 The Scalp Block for Postoperative Pain Control in Craniosynostosis Surgery: a Case Control Study Completed NCT04133467
21 Genetic Analysis of Craniosynostosis, Philadelphia Type (OMIM 601222) Completed NCT00367796
22 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Completed NCT00106977
23 Neurobehavioral Correlates of Craniosynostosis Completed NCT00077831
24 Osteogenic Profiling of Tissue From Children With Craniosynostosis Completed NCT00773643
25 The Affect of Radiated Versus Non-Irradiated Blood on Extracellular Potassium Levels in Infants Undergoing Craniosynostosis Repair Completed NCT02483702
26 Changes of Optic Nerve Sheath Diameter in Modified Prone Position in Craniosynostosis Children Completed NCT03131245
27 A Remediation Program for Children at High-Risk of Schizophrenia: 22q11.2 Deletion Syndrome Completed NCT01781923
28 Effectiveness of Tortle Midliner Positioning System on the Prevention and Treatment of Cranial Molding Deformities in Preterm Infants Completed NCT02366936
29 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
30 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
31 Computer-Based Cognitive Remediation in Adolescents With VCFS Completed NCT00917189
32 A Monocentric, Prospective Clinical Study to Evaluation of Cerebral Oxygen Saturation by Near InfraRed Spectroscopy (NIRS) in Children With Craniosynostosis Recruiting NCT04086056
33 Clinical Feasibility Study of Preoperative Surgical Planning for Craniosynostosis Procedures Recruiting NCT03812159
34 Investigation of Anthropometric Properties of Babies With Craniosynostosis Recruiting NCT04827524
35 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
36 Endoscopic Strip Craniectomy for Treatment of Isolated, Non-syndromic Sagittal Craniosynostosis Recruiting NCT04721769
37 Craniosynostosis Network Recruiting NCT03025763
38 Craniofacial Imaging With 3D MRI: an Alternative to Ionising Radiation Recruiting NCT04695938
39 Effects of Modulation of the Dopaminergic System Using Risperidone on Memory and Executive Processes in Individuals With 22q11.2 Deletion Syndrome Recruiting NCT04639960 Risperdal;Placebo
40 Bedside Resources to Gauge Intravascular Volume Status in Hypovolemic Infants in the Operating Room Recruiting NCT03915587
41 Effects of Modulation of the Dopaminergic System Using Methylphenidate on Memory and Executive Processes in Individuals With 22q11.2 Deletion Syndrome Recruiting NCT04647500 Concerta
42 Genetic Modifiers of 22q11.2 Deletion Syndrome Recruiting NCT00556530
43 Study of Arithmetic Abilities of Children With 22q11.2 Deletion Syndrome Aged From 4 to 11 Years Old Recruiting NCT04373226
44 Safety and Efficacy of Thymus Transplantation in Complete DiGeorge Anomaly, IND#9836 Available NCT01220531 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Basiliximab;Mycophenolate mofetil
45 Comparative Analysis of Zero Echo-time MRI and CT for Pediatric Craniosynostosis Enrolling by invitation NCT04704284
46 Effect of Burosumab and 1-25 (OH) Vitamin D on Human Osteoblasts From Patients Requiring Craniosynostosis Surgery for Idiopathic Reason or Due to Hypophosphatemic Rickets (HR) Not yet recruiting NCT04159675
47 Neurodevelopmental Outcomes in Craniosynostosis Repair Not yet recruiting NCT04072783
48 Incidence of Infection in the Patient With DiGeorge Syndrome Following Surgery for Congenital Heart Disease Terminated NCT00278005
49 Cranial Cup Use for the Prevention of Positional Head Shape Deformity in the NICU Terminated NCT01218087
50 A Pilot, Prospective Study of Myelin Imaging Changes in Patients With Neurosurgical Diseases Terminated NCT03698838

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

Anatomical Context for Craniosynostosis

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

19
Skull

MalaCards organs/tissues related to Craniosynostosis:

40
Brain, Bone, Thymus, Skin, Thyroid, Eye, 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 4609)
# Title Authors PMID Year
1
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations. 54 61 6
18391498 2008
2
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 6 61 54
17033969 2006
3
FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis. 54 6 61
15915095 2005
4
Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity. 61 54 6
14613973 2004
5
FGFs, their receptors, and human limb malformations: clinical and molecular correlations. 61 54 6
12357470 2002
6
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. 6 54 61
10696568 2000
7
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. 6 54 61
10094188 1999
8
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. 6 61 54
9042914 1997
9
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 61 54 6
7493034 1995
10
NGS targeted screening of 100 Scandinavian patients with coronal synostosis. 6 61
31837199 2020
11
Muenke syndrome: An international multicenter natural history study. 61 6
26740388 2016
12
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 61 6
25271085 2015
13
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 61 6
25691418 2015
14
Achondroplasia with synostosis of multiple sutures. 6 61
21739570 2011
15
A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? 61 6
20199409 2010
16
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. 61 6
11426459 2001
17
Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: A case report and brief literature review. 6
30681580 2019
18
Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation. 6
28249712 2017
19
A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome. 6
27139183 2016
20
Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation. 6
25809207 2016
21
Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation. 6
26818779 2016
22
Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. 6
25606676 2015
23
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 6
25614871 2014
24
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound. 6
24476948 2014
25
Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3. 6
23437153 2013
26
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. 6
23149434 2012
27
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. 6
23165795 2012
28
Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis. 6
22339077 2012
29
Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. 6
22045636 2012
30
The A391E mutation enhances FGFR3 activation in the absence of ligand. 6
21536014 2011
31
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. 6
21510009 2010
32
FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature. 6
20453470 2010
33
Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner. 6
19749790 2009
34
Pathogenic activation of receptor tyrosine kinases in mammalian membranes. 6
18976668 2008
35
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? 6
18583390 2008
36
Achondroplasia. 6
18328977 2008
37
Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage. 6
19088846 2008
38
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 6
17803937 2007
39
Familial acanthosis nigricans due to K650T FGFR3 mutation. 6
17875876 2007
40
Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer. 6
17384684 2007
41
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 6
16912704 2006
42
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. 6
15793702 2005
43
Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria. 6
11879084 2002
44
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. 6
11754059 2001
45
Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia. 6
11241532 2001
46
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. 6
11055896 2000
47
Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation. 6
11038465 2000
48
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 6
10861678 2000
49
Achondroplasia-hypochondroplasia complex in a newborn infant. 6
10360392 1999
50
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. 6
9452043 1998

Variations for Craniosynostosis

ClinVar genetic disease variations for Craniosynostosis:

6 (show top 50) (show all 364)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZNF462 NM_021224.6(ZNF462):c.3787C>T (p.Arg1263Ter) SNV Pathogenic 402116 rs1060499549 GRCh37: 9:109689980-109689980
GRCh38: 9:106927699-106927699
2 ZNF462 NM_021224.6(ZNF462):c.4263del (p.Glu1422fs) Deletion Pathogenic 402117 rs1060499551 GRCh37: 9:109690455-109690455
GRCh38: 9:106928174-106928174
3 FGFR3 NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) SNV Pathogenic 287276 rs886043613 GRCh37: 4:1803246-1803246
GRCh38: 4:1801519-1801519
4 FGFR3 NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) SNV Pathogenic 16328 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
5 FGFR3 NM_000142.5(FGFR3):c.1862G>A (p.Arg621His) SNV Pathogenic 16355 rs121913113 GRCh37: 4:1807803-1807803
GRCh38: 4:1806076-1806076
6 FGFR3 NM_000142.5(FGFR3):c.1052C>T (p.Ser351Phe) SNV Pathogenic 649812 rs1057517964 GRCh37: 4:1805540-1805540
GRCh38: 4:1803813-1803813
7 FGFR3 NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) SNV Pathogenic 16329 rs28931615 GRCh37: 4:1806153-1806153
GRCh38: 4:1804426-1804426
8 ZNF462 NM_021224.6(ZNF462):c.2979_2980delinsA (p.Val994fs) Indel Pathogenic 402118 rs1060499550 GRCh37: 9:109689172-109689173
GRCh38: 9:106926891-106926892
9 FGFR3 NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) SNV Pathogenic 65562 rs397515514 GRCh37: 4:1808988-1808988
GRCh38: 4:1807261-1807261
10 FGFR3 NM_000142.5(FGFR3):c.1052C>G (p.Ser351Cys) SNV Pathogenic 372751 rs1057517964 GRCh37: 4:1805540-1805540
GRCh38: 4:1803813-1803813
11 FGFR3 NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) SNV Pathogenic 65855 rs121913105 GRCh37: 4:1807890-1807890
GRCh38: 4:1806163-1806163
12 FGFR3 NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) SNV Pathogenic 16339 rs121913483 GRCh37: 4:1803568-1803568
GRCh38: 4:1801841-1801841
13 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) SNV Pathogenic 13268 rs121918491 GRCh37: 10:123276885-123276885
GRCh38: 10:121517371-121517371
14 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic 16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
15 FGFR3 NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) SNV Pathogenic 16348 rs78311289 GRCh37: 4:1807889-1807889
GRCh38: 4:1806162-1806162
16 FGFR3 NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) SNV Pathogenic 16337 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
17 FGFR3 NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV Pathogenic 16338 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
18 FGFR3 NM_000142.5(FGFR3):c.1138G>A SNV Pathogenic 16327 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
19 FGFR3 NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) SNV Pathogenic 16347 rs28928868 GRCh37: 4:1807891-1807891
GRCh38: 4:1806164-1806164
20 FGFR3 NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) SNV Pathogenic 16342 rs121913485 GRCh37: 4:1806099-1806099
GRCh38: 4:1804372-1804372
21 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic 16332 rs121913482 GRCh37: 4:1803564-1803564
GRCh38: 4:1801837-1801837
22 TRPS1 NM_014112.5(TRPS1):c.1230G>A (p.Trp410Ter) SNV Likely pathogenic 373946 rs1057518791 GRCh37: 8:116616966-116616966
GRCh38: 8:115604739-115604739
23 FGFR2 NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) SNV Likely pathogenic 13294 rs121918506 GRCh37: 10:123256215-123256215
GRCh38: 10:121496701-121496701
24 GRIN2B NM_000834.4(GRIN2B):c.2216T>G (p.Met739Arg) SNV Likely pathogenic 523381 rs1555103652 GRCh37: 12:13722907-13722907
GRCh38: 12:13569973-13569973
25 TCF12 NM_207037.2(TCF12):c.1769del (p.Asp589_Leu590insTer) Deletion Likely pathogenic 691564 rs1597816045 GRCh37: 15:57565249-57565249
GRCh38: 15:57273051-57273051
26 TCF12 NM_207037.2(TCF12):c.1606del (p.Thr536fs) Deletion Likely pathogenic 691565 rs1597730335 GRCh37: 15:57555332-57555332
GRCh38: 15:57263134-57263134
27 NPR2 NM_003995.3(NPR2):c.779A>T (p.Glu260Val) SNV Likely pathogenic 373988 rs757744435 GRCh37: 9:35794006-35794006
GRCh38: 9:35794009-35794009
28 NPR2 NM_003995.3(NPR2):c.2162_2172del (p.Ser721fs) Deletion Likely pathogenic 373987 rs1057518817 GRCh37: 9:35805941-35805951
GRCh38: 9:35805944-35805954
29 FGFR2 NM_000141.5(FGFR2):c.1570A>G (p.Thr524Ala) SNV Likely pathogenic 376749 rs1057520044 GRCh37: 10:123258111-123258111
GRCh38: 10:121498597-121498597
30 FGFR2 NM_000141.5(FGFR2):c.1913A>C (p.Asn638Thr) SNV Likely pathogenic 376750 rs777169135 GRCh37: 10:123247578-123247578
GRCh38: 10:121488064-121488064
31 FGFR1 NM_023110.2(FGFR1):c.415A>G (p.Lys139Glu) SNV Uncertain significance 362905 rs201054877 GRCh37: 8:38285897-38285897
GRCh38: 8:38428379-38428379
32 FGFR1 NM_023110.2(FGFR1):c.-853G>C SNV Uncertain significance 362921 rs553799602 GRCh37: 8:38326263-38326263
GRCh38: 8:38468745-38468745
33 FGFR1 NM_023110.2(FGFR1):c.*1965G>A SNV Uncertain significance 362861 rs886062907 GRCh37: 8:38269181-38269181
GRCh38: 8:38411663-38411663
34 FGFR3 NM_000142.5(FGFR3):c.77G>A (p.Gly26Glu) SNV Uncertain significance 465357 rs1221876688 GRCh37: 4:1795738-1795738
GRCh38: 4:1794011-1794011
35 FGFR3 NM_000142.5(FGFR3):c.1733C>T (p.Ser578Phe) SNV Uncertain significance 465347 rs989826317 GRCh37: 4:1807564-1807564
GRCh38: 4:1805837-1805837
36 FGFR3 NM_000142.5(FGFR3):c.2294C>T (p.Ala765Val) SNV Uncertain significance 533891 rs140211846 GRCh37: 4:1808862-1808862
GRCh38: 4:1807135-1807135
37 FGFR3 NM_000142.4(FGFR3):c.436_445+2del Deletion Uncertain significance 533892 rs1030059712 GRCh37: 4:1801520-1801531
GRCh38: 4:1799793-1799804
38 FGFR3 NM_000142.5(FGFR3):c.749C>T (p.Pro250Leu) SNV Uncertain significance 533893 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
39 FGFR3 NM_000142.4(FGFR3):c.445+2_445+5del Deletion Uncertain significance 533894 rs756854039 GRCh37: 4:1801538-1801541
GRCh38: 4:1799811-1799814
40 FGFR3 NM_000142.4(FGFR3):c.1534+6G>C SNV Uncertain significance 465346 rs1213940166 GRCh37: 4:1807209-1807209
GRCh38: 4:1805482-1805482
41 FGFR3 NM_000142.5(FGFR3):c.518G>A (p.Arg173His) SNV Uncertain significance 568057 rs1441656357 GRCh37: 4:1803166-1803166
GRCh38: 4:1801439-1801439
42 FGFR3 NM_000142.5(FGFR3):c.1223C>T (p.Ser408Phe) SNV Uncertain significance 255326 rs761877926 GRCh37: 4:1806204-1806204
GRCh38: 4:1804477-1804477
43 FGFR3 NM_000142.5(FGFR3):c.1181C>T (p.Thr394Met) SNV Uncertain significance 576979 rs747694886 GRCh37: 4:1806162-1806162
GRCh38: 4:1804435-1804435
44 FGFR3 NM_000142.5(FGFR3):c.2005C>G (p.Arg669Gly) SNV Uncertain significance 579912 rs1490564667 GRCh37: 4:1808029-1808029
GRCh38: 4:1806302-1806302
45 FGFR3 NM_000142.5(FGFR3):c.916G>A (p.Val306Ile) SNV Uncertain significance 582777 rs774047997 GRCh37: 4:1803738-1803738
GRCh38: 4:1802011-1802011
46 FGFR3 NM_000142.5(FGFR3):c.2150C>T (p.Ala717Val) SNV Uncertain significance 643460 rs749192018 GRCh37: 4:1808392-1808392
GRCh38: 4:1806665-1806665
47 FGFR1 NM_023110.2(FGFR1):c.549C>T (p.Thr183=) SNV Uncertain significance 362902 rs886062920 GRCh37: 8:38285511-38285511
GRCh38: 8:38427993-38427993
48 FGFR2 NM_022970.3(FGFR2):c.351T>C (p.Thr117=) SNV Uncertain significance 299008 rs886046764 GRCh37: 10:123324977-123324977
GRCh38: 10:121565463-121565463
49 FGFR2 NM_022970.3(FGFR2):c.204C>T (p.Ala68=) SNV Uncertain significance 299009 rs747982371 GRCh37: 10:123325124-123325124
GRCh38: 10:121565610-121565610
50 FGFR2 NM_022970.3(FGFR2):c.110-22TC[3] Microsatellite Uncertain significance 299010 rs773932794 GRCh37: 10:123325233-123325234
GRCh38: 10:121565719-121565720

Copy number variations for Craniosynostosis from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 97908 16 14700000 16700000 Duplication or deletion 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 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 TGFBR1 TCF12 IL11RA FGFR3 FGFR2 FGFR1
2
Show member pathways
13.5 TGFBR1 TCF12 IL11RA FGFR3 FGFR2 FGFR1
3
Show member pathways
13.38 TGFBR1 IL11RA FGFR3 FGFR2 FGFR1 FGF8
4
Show member pathways
13.32 TWIST1 IL11RA GRIN2B FGFR3 FGFR2 FGFR1
5
Show member pathways
13.24 NPR2 FGFR3 FGFR2 FGFR1 FGF8 FGF10
6
Show member pathways
13.1 TGFBR1 NPR2 GRIN2B FGFR3 FGFR2 FGFR1
7
Show member pathways
13.02 TGFBR1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
8
Show member pathways
12.99 TGFBR1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
9
Show member pathways
12.98 TGFBR1 TCF12 IL11RA FGFR3 FGFR2 FGFR1
10
Show member pathways
12.81 FGFR3 FGFR2 FGFR1 FGF8 FGF10
11
Show member pathways
12.73 TGFBR1 FGFR2 FGFR1 FGF8 FGF10
12 12.7 TGFBR1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
13
Show member pathways
12.69 FGFR3 FGFR2 FGFR1 FGF8 FGF10
14
Show member pathways
12.65 GRIN2B FGFR3 FGFR2 FGFR1 FGF8 FGF10
15 12.61 FGFR3 FGFR2 FGFR1 FGF8 FGF10
16
Show member pathways
12.59 FGFR3 FGFR2 FGFR1 FGF8 FGF10 BMP2
17 12.59 TGFBR1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
18
Show member pathways
12.53 FGFR3 FGFR2 FGFR1 FGF8 FGF10
19
Show member pathways
12.47 ZNF462 SMAD6 FGFR1 FGF8
20
Show member pathways
12.45 SMAD6 FGFR3 FGFR2 FGFR1
21
Show member pathways
12.42 TGFBR1 TCF12 FGFR2 BMP2
22
Show member pathways
12.39 TGFBR1 FGFR3 FGFR2 FGFR1
23
Show member pathways
12.37 FGFR3 FGFR2 FGFR1 FGF8 FGF10 BMP2
24
Show member pathways
12.37 FGFR3 FGFR2 FGFR1 FGF8 FGF10
25
Show member pathways
12.37 FGFR3 FGFR2 FGFR1 FGF8 FGF10
26 12.33 FGFR3 FGFR2 FGFR1 FGF8 FGF10
27
Show member pathways
12.29 FGFR3 FGFR2 FGFR1 FGF8 FGF10
28
Show member pathways
12.14 FGFR3 FGFR2 FGFR1 FGF8 FGF10
29
Show member pathways
12.03 FGFR3 FGFR2 FGFR1 FGF8 FGF10
30
Show member pathways
11.91 TGFBR1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
31 11.82 TGFBR1 SMAD6 BMP2
32 11.82 MSX2 FGF8 FGF10 BMP2
33 11.76 TGFBR1 FGFR3 FGFR2 FGFR1
34 11.68 FGFR3 FGFR2 FGFR1
35 11.57 FGFR3 FGFR2 FGFR1 FGF8 FGF10 BMP2
36 11.48 FGF8 FGF10 BMP2
37 11.47 FGFR3 FGFR2 FGFR1
38 11.44 FGFR3 FGFR2 FGFR1
39 11.25 FGFR3 FGFR1 FGF8 FGF10 BMP2
40 11.18 ZIC1 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
41 11 FGFR3 FGFR2 FGFR1 FGF8 FGF10 BMP2

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 9.83 ZNF462 ZIC1 TWIST1 TRPS1 TGFBR1 TCF12
2 chromatin GO:0000785 9.8 TWIST1 TRPS1 TCF12 SMAD6 MSX2 ERF
3 cell surface GO:0009986 9.63 TGFBR1 GRIN2B FGFR3 FGFR2 FGF10 BMP2
4 receptor complex GO:0043235 9.02 TGFBR1 IL11RA FGFR3 FGFR2 FGFR1

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

(show top 50) (show all 72)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.31 ZIC1 TWIST1 TRPS1 TCF12 SMAD6 MSX2
2 regulation of transcription, DNA-templated GO:0006355 10.29 TRPS1 TGFBR1 SMAD6 MSX2 ERF BMP2
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.24 ZNF462 TWIST1 TCF12 FGFR2 FGF10 BMP2
4 negative regulation of transcription by RNA polymerase II GO:0000122 10.2 TWIST1 TRPS1 MSX2 FGFR2 ERF BMP2
5 protein phosphorylation GO:0006468 10.14 TGFBR1 NPR2 FGFR3 FGFR2 FGFR1 BMP2
6 positive regulation of gene expression GO:0010628 10.11 TWIST1 TGFBR1 TCF12 FGF8 FGF10 BMP2
7 positive regulation of cell proliferation GO:0008284 10.09 TGFBR1 IL11RA FGFR3 FGFR2 FGFR1 FGF8
8 cell-cell signaling GO:0007267 10.02 FGFR3 FGFR2 FGF10 BMP2
9 in utero embryonic development GO:0001701 10.01 TWIST1 TGFBR1 FGFR2 BMP2
10 MAPK cascade GO:0000165 9.99 GRIN2B FGFR3 FGFR2 FGFR1 FGF8 FGF10
11 animal organ morphogenesis GO:0009887 9.98 FGFR2 FGF8 FGF10 BMP2
12 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.97 FGFR3 FGFR2 FGF8 FGF10 BMP2
13 cell differentiation GO:0030154 9.97 ZIC1 TWIST1 TGFBR1 TCF12 SMAD6 FGF8
14 ossification GO:0001503 9.93 TWIST1 NPR2 MSX2 BMP2
15 osteoblast differentiation GO:0001649 9.92 TWIST1 MSX2 BMP2
16 wound healing GO:0042060 9.92 TGFBR1 FGFR2 FGF10
17 muscle organ development GO:0007517 9.91 TWIST1 TCF12 ALX4
18 positive regulation of neuron differentiation GO:0045666 9.91 TCF12 FGFR1 BMP2
19 lung development GO:0030324 9.91 FGFR2 FGF8 FGF10
20 positive regulation of kinase activity GO:0033674 9.89 FGFR3 FGFR2 FGFR1
21 cell fate commitment GO:0045165 9.89 FGFR2 FGF8 BMP2
22 post-embryonic development GO:0009791 9.89 TGFBR1 FGFR2 ALX4
23 cellular response to growth factor stimulus GO:0071363 9.88 TWIST1 TGFBR1 BMP2
24 roof of mouth development GO:0060021 9.88 TWIST1 TGFBR1 ALX4
25 positive regulation of epithelial cell proliferation GO:0050679 9.87 TWIST1 FGFR2 FGF10
26 inner ear morphogenesis GO:0042472 9.86 ZIC1 FGFR2 FGF8 FGF10
27 positive regulation of epithelial to mesenchymal transition GO:0010718 9.85 TWIST1 TGFBR1 BMP2
28 positive regulation of cell differentiation GO:0045597 9.85 FGFR1 FGF8 BMP2
29 bone mineralization GO:0030282 9.84 FGFR3 FGFR2 BMP2
30 bone development GO:0060348 9.84 TWIST1 NPR2 FGFR2 FGF8
31 positive regulation of Wnt signaling pathway GO:0030177 9.83 FGFR2 FGF10 BMP2
32 odontogenesis GO:0042476 9.83 TWIST1 FGFR2 FGF8
33 positive regulation of MAPK cascade GO:0043410 9.83 FGFR3 FGFR2 FGFR1 FGF10 BMP2
34 embryonic cranial skeleton morphogenesis GO:0048701 9.82 TWIST1 TGFBR1 FGFR2
35 digestive tract development GO:0048565 9.82 FGFR2 FGF10 ALX4
36 embryonic hindlimb morphogenesis GO:0035116 9.81 TWIST1 FGF8 ALX4
37 outflow tract septum morphogenesis GO:0003148 9.8 SMAD6 FGFR2 FGF8
38 limb morphogenesis GO:0035108 9.76 FGF8 FGF10 ALX4
39 epithelial to mesenchymal transition GO:0001837 9.76 TGFBR1 FGFR2 FGFR1 BMP2
40 pharyngeal system development GO:0060037 9.75 TGFBR1 FGF8
41 regulation of smoothened signaling pathway GO:0008589 9.75 ZIC1 FGFR2 FGF10
42 endocardial cushion morphogenesis GO:0003203 9.74 TWIST1 BMP2
43 embryonic digestive tract morphogenesis GO:0048557 9.74 FGFR2 FGF10
44 pathway-restricted SMAD protein phosphorylation GO:0060389 9.73 TGFBR1 BMP2
45 cardiac epithelial to mesenchymal transition GO:0060317 9.73 TGFBR1 BMP2
46 mesonephros development GO:0001823 9.73 FGF8 FGF10
47 limb bud formation GO:0060174 9.73 FGFR2 FGF10
48 positive regulation of protein kinase B signaling GO:0051897 9.73 TGFBR1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
49 organ growth GO:0035265 9.72 FGFR2 FGF10
50 organ induction GO:0001759 9.72 FGF8 FGF10

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.43 ZNF462 ZIC1 TWIST1 TRPS1 TGFBR1 TCF12
2 DNA binding GO:0003677 10.06 ZNF462 ZIC1 TWIST1 TRPS1 TCF12 SMAD6
3 protein kinase activity GO:0004672 9.83 TGFBR1 NPR2 FGFR3 FGFR2 FGFR1
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.54 FGFR3 FGFR2 FGFR1
5 SMAD binding GO:0046332 9.5 TGFBR1 TCF12 BMP2
6 DNA-binding transcription factor activity GO:0003700 9.5 ZIC1 TWIST1 TRPS1 TCF12 SMAD6 ERF
7 HMG box domain binding GO:0071837 9.49 TCF12 ALX4
8 I-SMAD binding GO:0070411 9.48 TGFBR1 SMAD6
9 fibroblast growth factor binding GO:0017134 9.33 FGFR3 FGFR2 FGFR1
10 type 2 fibroblast growth factor receptor binding GO:0005111 9.26 FGF8 FGF10
11 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR3 FGFR2 FGFR1

Sources for Craniosynostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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