CSO
MCID: CRN037
MIFTS: 68

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 74 52 53 58 29 54 6 15 39 71 32
Craniosynostosis Syndrome 29 6
Premature Closure of Cranial Sutures 12
Craniosynostoses 43
Craniostenosis 52
Cso 52

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 43 D003398
NCIt 49 C84655
SNOMED-CT 67 57219006
ICD10 32 Q75.0
MESH via Orphanet 44 D003398
ICD10 via Orphanet 33 Q75.0
UMLS via Orphanet 72 C0010278
Orphanet 58 ORPHA1531
UMLS 71 C0010278

Summaries for Craniosynostosis

NIH Rare Diseases : 52 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 craniosynostosis 7. 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 Methylphenidate 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 : 74 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 642)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 1 34.8 TWIST1 ERF
2 craniosynostosis 7 34.7 SMAD6 BMP2
3 fgfr craniosynostosis syndromes 34.3 FGFR3 FGFR2 FGFR1
4 syndromic craniosynostosis 34.3 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 ERF
5 jackson-weiss syndrome 34.1 MSX2 FGFR3 FGFR2 FGFR1 FGF8 FGF10
6 muenke syndrome 33.9 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
7 pfeiffer syndrome 33.4 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
8 saethre-chotzen syndrome 33.2 TWIST1 TCF12 RECQL4 MSX2 FGFR3 FGFR2
9 antley-bixler syndrome 33.2 FGFR3 FGFR2 FGFR1
10 apert syndrome 33.1 TWIST1 TCF12 MSX2 FGFR3 FGFR2 FGFR1
11 osteoglophonic dysplasia 33.0 FGFR3 FGFR2 FGFR1
12 isolated plagiocephaly 33.0 ZIC1 TWIST1 TCF12 FGFR3
13 crouzon syndrome 32.9 TWIST1 MSX2 IL11RA FGFR3 FGFR2 FGFR1
14 chromosome 2q35 duplication syndrome 32.8 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
15 hartsfield syndrome 32.6 FGFR1 FGF8
16 lacrimoauriculodentodigital syndrome 32.3 FGFR3 FGFR2 FGFR1 FGF8 FGF10
17 isolated scaphocephaly 32.2 TWIST1 ERF ALX4
18 plagiocephaly 32.1 TWIST1 FGFR3 FGFR2 FGFR1
19 isolated brachycephaly 31.9 ZIC1 TWIST1 TCF12 FGFR3
20 synostosis 31.7 TWIST1 TCF12 SMAD6 RECQL4 NELL1 MSX2
21 hydrocephalus 31.5 TWIST1 FGFR3 FGFR2 FGFR1
22 hypertelorism 31.5 TWIST1 FGFR2 EFNB1 ALX4
23 achondroplasia 31.3 MSX2 FGFR3 FGFR2 FGFR1
24 brachydactyly 31.2 MSX2 FGFR3 ERF BMP2
25 thanatophoric dysplasia, type i 31.2 FGFR3 FGFR2 FGFR1 FGF8
26 choanal atresia, posterior 31.0 FGFR2 FGFR1 FGF8
27 hypochondroplasia 31.0 FGFR3 FGFR2 FGFR1
28 parietal foramina 31.0 TWIST1 RECQL4 NELL1 MSX2 FGFR3 FGF8
29 cleft palate, isolated 31.0 TWIST1 TGFBR1 MSX2 FGFR3 FGFR2 FGFR1
30 holoprosencephaly 30.9 ZIC1 TWIST1 FGFR3 FGFR2 FGFR1 FGF8
31 ankylosis 30.9 FGFR2 FGFR1 BMP2
32 cleidocranial dysplasia 30.9 NELL1 MSX2 FGFR2 FGFR1
33 dysostosis 30.8 TWIST1 RECQL4 NELL1 MSX2 FGFR3 FGFR2
34 achondroplasia, severe, with developmental delay and acanthosis nigricans 30.8 FGFR3 FGFR2 FGFR1
35 radioulnar synostosis 30.8 TWIST1 SMAD6 RECQL4 FGFR3 FGFR2 FGFR1
36 hypospadias 30.6 FGFR2 FGF8 FGF10
37 odontochondrodysplasia 30.6 MSX2 FGFR3 FGFR2 FGFR1 BMP2
38 bone disease 30.6 FGFR3 FGFR2 FGFR1 BMP2
39 hemifacial microsomia 30.5 MSX2 FGFR1 FGF8
40 renal hypodysplasia/aplasia 1 30.4 FGFR2 FGFR1 FGF8 FGF10
41 syngnathia 30.2 MSX2 FGF8
42 exposure keratitis 30.2 FGFR2 EFNB1
43 charge syndrome 29.9 ZIC1 FGFR1 FGF8
44 shprintzen-goldberg craniosynostosis syndrome 12.7
45 craniosynostosis 2 12.6
46 craniosynostosis 4 12.6
47 craniosynostosis and dental anomalies 12.6
48 craniosynostosis 5 12.6
49 craniosynostosis 6 12.6
50 craniosynostosis 3 12.5

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 top 50) (show all 56)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.33 FGFR1 FGFR3 SKI TGFBR1
2 Decreased viability GR00221-A-2 10.33 FGFR1 FGFR3
3 Decreased viability GR00221-A-3 10.33 FGFR3
4 Decreased viability GR00221-A-4 10.33 SKI TGFBR1
5 Decreased viability GR00249-S 10.33 EFNB1 FGF10 FGFR2 FGFR3 TGFBR1 TWIST1
6 Decreased viability GR00301-A 10.33 FGFR2
7 Decreased viability GR00342-S-1 10.33 FGFR2
8 Decreased viability GR00342-S-2 10.33 FGFR2
9 Decreased viability GR00342-S-3 10.33 FGFR2
10 Decreased viability GR00381-A-1 10.33 ZIC1
11 Decreased viability GR00386-A-1 10.33 ALX4 EFNB1 FGF10 FGFR1 ZNF462
12 Decreased viability GR00402-S-2 10.33 BMP2 EFNB1 TGFBR1 TWIST1 ZNF462
13 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.25 NELL1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.25 TWIST1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-128 10.25 FGF8
16 Increased shRNA abundance (Z-score > 2) GR00366-A-131 10.25 NELL1 TWIST1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.25 SKI
18 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.25 FGF8
19 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.25 FGF8
20 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.25 ERF NELL1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.25 SKI
22 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.25 TWIST1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-167 10.25 NELL1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-18 10.25 ERF NELL1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.25 FGF8
26 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.25 NELL1 TWIST1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-205 10.25 FGF8
28 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.25 NELL1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.25 ERF FGF8 NELL1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.25 NELL1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.25 FGF8
32 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.25 ERF NELL1 TWIST1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.25 NELL1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.25 FGF8
35 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.25 NELL1 SKI
36 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.25 ERF NELL1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.25 ERF
38 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.25 FGF8
39 Increased shRNA abundance (Z-score > 2) GR00366-A-86 10.25 NELL1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-90 10.25 SKI
41 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.25 TWIST1
42 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 10.13 ERF
43 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 10.13 ERF NELL1
44 Decreased shRNA abundance (Z-score < -2) GR00366-A-107 10.13 ERF
45 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.13 ERF
46 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.13 SKI
47 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.13 TGFBR1
48 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.13 TGFBR1
49 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 10.13 SKI
50 Decreased shRNA abundance (Z-score < -2) GR00366-A-215 10.13 SKI

MGI Mouse Phenotypes related to Craniosynostosis:

45 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.51 ALX4 BMP2 EFNB1 ERF FGF10 FGF8
2 mortality/aging MP:0010768 10.43 ALX4 BMP2 EFNB1 ERF FGF10 FGF8
3 craniofacial MP:0005382 10.42 ALX4 BMP2 EFNB1 ERF FGF10 FGF8
4 behavior/neurological MP:0005386 10.41 ALX4 FGF10 FGF8 FGFR1 FGFR2 FGFR3
5 embryo MP:0005380 10.4 ALX4 BMP2 EFNB1 ERF FGF10 FGF8
6 digestive/alimentary MP:0005381 10.38 ALX4 BMP2 EFNB1 FGF10 FGF8 FGFR1
7 cardiovascular system MP:0005385 10.37 BMP2 ERF FGF10 FGF8 FGFR1 FGFR2
8 cellular MP:0005384 10.36 BMP2 EFNB1 ERF FGF10 FGF8 FGFR1
9 hematopoietic system MP:0005397 10.32 BMP2 EFNB1 ERF FGF10 FGF8 FGFR1
10 immune system MP:0005387 10.27 BMP2 EFNB1 FGF10 FGF8 FGFR1 FGFR2
11 nervous system MP:0003631 10.27 ALX4 BMP2 EFNB1 ERF FGF10 FGF8
12 endocrine/exocrine gland MP:0005379 10.25 EFNB1 FGF10 FGF8 FGFR1 FGFR2 IL11RA
13 limbs/digits/tail MP:0005371 10.23 ALX4 BMP2 EFNB1 FGF10 FGF8 FGFR1
14 integument MP:0010771 10.18 ALX4 EFNB1 FGF10 FGFR1 FGFR2 FGFR3
15 muscle MP:0005369 10.14 ALX4 FGF10 FGF8 FGFR1 FGFR2 MSX2
16 hearing/vestibular/ear MP:0005377 10.13 BMP2 EFNB1 FGF10 FGF8 FGFR1 FGFR2
17 normal MP:0002873 10.02 ALX4 BMP2 ERF FGF10 FGF8 FGFR1
18 reproductive system MP:0005389 9.91 BMP2 EFNB1 ERF FGF10 FGF8 FGFR1
19 skeleton MP:0005390 9.86 ALX4 BMP2 EFNB1 ERF FGF10 FGF8
20 respiratory system MP:0005388 9.76 ALX4 EFNB1 FGF10 FGF8 FGFR2 FGFR3
21 vision/eye MP:0005391 9.36 ALX4 EFNB1 FGF10 FGF8 FGFR1 FGFR2

Drugs & Therapeutics for Craniosynostosis

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

(show top 50) (show all 76)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
2
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
5
Tranexamic Acid Approved Phase 4 1197-18-8 5526
6 Pharmaceutical Solutions Phase 4
7 Dopamine Agents Phase 4
8 Dopamine Antagonists Phase 4
9 Central Nervous System Stimulants Phase 4
10 Psychotropic Drugs Phase 4
11 Antipsychotic Agents Phase 4
12 Neurotransmitter Agents Phase 4
13 Hemostatics Phase 4
14 Antifibrinolytic Agents 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
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
19
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
20
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
21
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
22
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
23
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
24
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
25 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
26
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
27
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
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 Anesthetics Phase 1, Phase 2
33 Calcium, Dietary Phase 2
34 Thymoglobulin Phase 1, Phase 2
35 Cyclosporins Phase 1, Phase 2
36 Hormones Phase 1, Phase 2
37 Antilymphocyte Serum Phase 1, Phase 2
38 Gastrointestinal Agents Phase 1, Phase 2
39 Antitubercular Agents Phase 1, Phase 2
40 Methylprednisolone Acetate Phase 1, Phase 2
41 Antineoplastic Agents, Hormonal Phase 1, Phase 2
42 Anti-Infective Agents Phase 1, Phase 2
43 Immunosuppressive Agents Phase 1, Phase 2
44 Neuroprotective Agents Phase 1, Phase 2
45 Hormone Antagonists Phase 1, Phase 2
46 Anti-Bacterial Agents Phase 1, Phase 2
47 Antifungal Agents Phase 1, Phase 2
48 Antiemetics Phase 1, Phase 2
49 Dermatologic Agents Phase 1, Phase 2
50 glucocorticoids Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 54)
# 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 Effects of Fibrinogen Concentrate Infusion on Perioperative Blood Loss and Allogeneic Blood Conservation in Patients Undergoing Scoliosis Surgery Completed NCT03183479 Phase 4 Fibrinogen Concentrate Human;Normal saline
3 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
4 Tranexamic Acid for the Reduction of Allogeneic Blood Exposure in Infants and Children Having Craniofacial Surgery Terminated NCT00722436 Phase 4 Tranexamic acid;saline
5 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
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 Phase II Study of Thymus Transplantation in Complete DiGeorge Syndrome #668 Completed NCT00576407 Phase 2
8 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
9 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
10 Efficacy of ε-Aminocaproic Acid (EACA) in Children Undergoing Craniofacial Reconstruction Surgery Active, not recruiting NCT02229968 Phase 2 Amicar (ε-aminocaproic acid);normal saline
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 Completed NCT00579709 Phase 1
14 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Completed 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 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
18 Efficacy of Oral Diltiazem Versus Combination of Oral Diltiazem With Intravenous Tranexamic Acid on the Intraoperative Bleeding in Functional Endoscopic Sinus Surgery Unknown status NCT03580590 Early Phase 1 oral Diltiazem;IV Tranexamic Acid;Placebo Oral Tablet
19 Changes of Optic Nerve Sheath Diameter in Modified Prone Position in Craniosynostosis Children Completed NCT03131245
20 Neurobehavioral Correlates of Craniosynostosis Completed NCT00077831
21 Genetic Analysis of Craniosynostosis, Philadelphia Type (OMIM 601222) Completed NCT00367796
22 The Scalp Block for Postoperative Pain Control in Craniosynostosis Surgery: a Case Control Study Completed NCT04133467
23 Craniosynostosis: How to Improve the Diagnosis and Assist Patients and Their Families? Completed NCT02287805
24 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321 Tranexamic Acid;normal saline
25 Osteogenic Profiling of Tissue From Children With Craniosynostosis Completed NCT00773643
26 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650
27 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Completed NCT00106977
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 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
31 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
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 Detection and Quantification of Neonatal Intraventricular Hemorrhage Completed NCT01899651
35 Computer-Based Cognitive Remediation in Adolescents With VCFS Completed NCT00917189
36 Effectiveness of Tortle Midliner Positioning System on the Prevention and Treatment of Cranial Molding Deformities in Preterm Infants Completed NCT02366936
37 Craniosynostosis Network Recruiting NCT03025763
38 A Monocentric, Prospective Clinical Study to Evaluation of Cerebral Oxygen Saturation by Near InfraRed Spectroscopy (NIRS) in Children With Craniosynostosis Recruiting NCT04086056
39 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
40 Clinical Feasibility Study of Preoperative Surgical Planning for Craniosynostosis Procedures Recruiting NCT03812159
41 Bedside Resources to Gauge Intravascular Volume Status in Hypovolemic Infants in the Operating Room Recruiting NCT03915587
42 Non-Invasive and Non-Contact Intracranial Pressure Waveform Recording Using Dynamic Video Ophthalmoscopy Recruiting NCT04046523
43 A Pilot, Prospective Study of Myelin Imaging Changes in Patients With Neurosurgical Diseases Recruiting NCT03698838
44 Biomarker for Hypophosphatasia Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02603042
45 Genetic Modifiers of 22q11.2 Deletion Syndrome Active, not recruiting NCT00556530
46 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
47 Neurodevelopmental Outcomes in Craniosynostosis Repair Not yet recruiting NCT04072783
48 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
49 Study of Arithmetic Abilities of Children With 22q11.2 Deletion Syndrome Aged From 4 to 11 Years Old Not yet recruiting NCT04373226
50 Incidence of Infection in the Patient With DiGeorge Syndrome Following Surgery for Congenital Heart Disease Terminated NCT00278005

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:

40
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 4308)
# Title Authors PMID Year
1
Genetic basis of potential therapeutic strategies for craniosynostosis. 61 6
21082653 2010
2
Saethre-Chotzen syndrome: a case report. 54 61
19860490 2010
3
Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis. 54 61
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. 54 61
20489451 2010
5
Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice. 61 54
20175913 2010
6
New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling. 61 54
19898608 2009
7
Cleft palate in Pfeiffer syndrome. 54 61
19816260 2009
8
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. 54 61
19066959 2009
9
Medical treatment of craniosynostosis: recombinant Noggin inhibits coronal suture closure in the rat craniosynostosis model. 54 61
19627528 2009
10
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding. 61 54
19530187 2009
11
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. 54 61
19483581 2009
12
Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. 54 61
19396835 2009
13
Identification of novel fibroblast growth factor receptor 3 gene mutations in actinic cheilitis and squamous cell carcinoma of the lip. 54 61
19327639 2009
14
FGFR2 as a molecular target in endometrial cancer. 54 61
19243295 2009
15
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. 61 54
18726952 2009
16
Ex vivo Noggin gene therapy inhibits bone formation in a mouse model of postoperative resynostosis. 54 61
19182668 2009
17
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. 61 54
19022412 2009
18
Genetics of craniosynostosis: review of the literature. 54 61
20108486 2009
19
Apert syndrome: report of a case with emphasis on craniofacial and genetic features. 54 61
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. 61 54
18242159 2008
21
The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis. 61 54
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. 54 61
18352773 2008
23
FGF-2 signaling induces downregulation of TAZ protein in osteoblastic MC3T3-E1 cells. 61 54
18067853 2008
24
P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia. 54 61
18493134 2008
25
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations. 61 54
18391498 2008
26
Roles of FGFR2 and twist in human craniosynostosis: insights from genetic mutations in cranial osteoblasts. 61 54
18391499 2008
27
Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication. 61 54
18000908 2007
28
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. 54 61
18000976 2007
29
Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis. 54 61
17955513 2007
30
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. 54 61
17525745 2007
31
RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. 61 54
17694057 2007
32
Clinical dividends from the molecular genetic diagnosis of craniosynostosis. 61 54
17621648 2007
33
An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses. 54 61
17632770 2007
34
Noggin inhibits postoperative resynostosis in craniosynostotic rabbits. 61 54
17437358 2007
35
Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells. 54 61
17622301 2007
36
Auditory brainstem response abnormalities and hearing loss in children with craniosynostosis. 61 54
17515438 2007
37
Potential role of PC-1 expression and pyrophosphate elaboration in the molecular etiology of the FGFR-associated craniosynostosis syndromes. 54 61
17552941 2007
38
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. 54 61
17343269 2007
39
EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome. 54 61
17300690 2007
40
Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis. 61 54
17414280 2007
41
Extracellular matrix and growth factors in the pathogenesis of some craniofacial malformations. 54 61
17703601 2007
42
The new bone biology: pathologic, molecular, and clinical correlates. 61 54
17103447 2006
43
FGFR3 mutations in benign skin tumors. 61 54
17172848 2006
44
Clinical dividends from the molecular genetic diagnosis of craniosynostosis. 61 54
16838304 2006
45
Sudden infant death in a patient with FGFR3 P250R mutation. 54 61
17103449 2006
46
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 54 61
17033969 2006
47
Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma. 54 61
17074596 2006
48
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report. 54 61
16957473 2006
49
Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F. 54 61
16844695 2006
50
Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion. 54 61
16955501 2006

Variations for Craniosynostosis

ClinVar genetic disease variations for Craniosynostosis:

6 (show top 50) (show all 360) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZNF462 NM_021224.6(ZNF462):c.3787C>T (p.Arg1263Ter)SNV Pathogenic 402116 rs1060499549 9:109689980-109689980 9:106927699-106927699
2 ZNF462 NM_021224.6(ZNF462):c.4263del (p.Glu1422fs)deletion Pathogenic 402117 rs1060499551 9:109690455-109690455 9:106928174-106928174
3 ZNF462 NM_021224.6(ZNF462):c.2979_2980delinsA (p.Val994fs)indel Pathogenic 402118 rs1060499550 9:109689172-109689173 9:106926891-106926892
4 FGFR3 NM_001163213.1(FGFR3):c.1082-517C>TSNV Pathogenic 649812 4:1805540-1805540 4:1803813-1803813
5 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)SNV Pathogenic 13268 rs121918491 10:123276885-123276885 10:121517371-121517371
6 FGFR3 NM_001163213.1(FGFR3):c.1144G>C (p.Gly382Arg)SNV Pathogenic 16328 rs28931614 4:1806119-1806119 4:1804392-1804392
7 FGFR3 NM_001163213.1(FGFR3):c.1626C>A (p.Asn542Lys)SNV Pathogenic 16337 rs28933068 4:1807371-1807371 4:1805644-1805644
8 FGFR3 NM_001163213.1(FGFR3):c.1626C>G (p.Asn542Lys)SNV Pathogenic 16338 rs28933068 4:1807371-1807371 4:1805644-1805644
9 FGFR3 NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys)SNV Pathogenic 16339 rs121913483 4:1803568-1803568 4:1801841-1801841
10 FGFR3 NM_001163213.1(FGFR3):c.1178C>A (p.Ala393Glu)SNV Pathogenic 16329 rs28931615 4:1806153-1806153 4:1804426-1804426
11 FGFR3 NM_001163213.1(FGFR3):c.1956G>C (p.Lys652Asn)SNV Pathogenic 16347 rs28928868 4:1807891-1807891 4:1806164-1806164
12 FGFR3 NM_001163213.1(FGFR3):c.1868G>A (p.Arg623His)SNV Pathogenic 16355 rs121913113 4:1807803-1807803 4:1806076-1806076
13 FGFR3 NM_001163213.1(FGFR3):c.2426G>T (p.Ter809Leu)SNV Pathogenic 65562 rs397515514 4:1808988-1808988 4:1807261-1807261
14 FGFR3 NM_001163213.1(FGFR3):c.1955A>C (p.Lys652Thr)SNV Pathogenic 65855 rs121913105 4:1807890-1807890 4:1806163-1806163
15 46;XX;t(3;12)(q13.2;q14)dnTranslocation Pathogenic 267821
16 FGFR3 NM_001163213.1(FGFR3):c.749C>G (p.Pro250Arg)SNV Pathogenic/Likely pathogenic 16340 rs4647924 4:1803571-1803571 4:1801844-1801844
17 FGFR2 NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)SNV Likely pathogenic 13294 rs121918506 10:123256215-123256215 10:121496701-121496701
18 TCF12 NM_207037.2(TCF12):c.1606del (p.Thr536fs)deletion Likely pathogenic 691565 15:57555332-57555332 15:57263134-57263134
19 TCF12 NM_207037.2(TCF12):c.1769del (p.Asp589_Leu590insTer)deletion Likely pathogenic 691564 15:57565249-57565249 15:57273051-57273051
20 GRIN2B NM_000834.4(GRIN2B):c.2216T>G (p.Met739Arg)SNV Likely pathogenic 523381 rs1555103652 12:13722907-13722907 12:13569973-13569973
21 TRPS1 NM_014112.5(TRPS1):c.1230G>A (p.Trp410Ter)SNV Likely pathogenic 373946 rs1057518791 8:116616966-116616966 8:115604739-115604739
22 NPR2 NM_003995.3(NPR2):c.779A>T (p.Glu260Val)SNV Likely pathogenic 373988 rs757744435 9:35794006-35794006 9:35794009-35794009
23 NPR2 NM_003995.3(NPR2):c.2162_2172del (p.Ser721fs)deletion Likely pathogenic 373987 rs1057518817 9:35805941-35805951 9:35805944-35805954
24 FGFR2 NM_000141.5(FGFR2):c.1913A>C (p.Asn638Thr)SNV Likely pathogenic 376750 rs777169135 10:123247578-123247578 10:121488064-121488064
25 FGFR2 NM_000141.5(FGFR2):c.1570A>G (p.Thr524Ala)SNV Likely pathogenic 376749 rs1057520044 10:123258111-123258111 10:121498597-121498597
26 FGFR1 NM_023110.2(FGFR1):c.2278T>C (p.Leu760=)SNV Conflicting interpretations of pathogenicity 391205 rs201490643 8:38271450-38271450 8:38413932-38413932
27 FGFR2 NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys)SNV Conflicting interpretations of pathogenicity 298995 rs764959117 10:123239421-123239421 10:121479907-121479907
28 FGFR3 NM_001163213.1(FGFR3):c.1082-517C>GSNV Conflicting interpretations of pathogenicity 372751 rs1057517964 4:1805540-1805540 4:1803813-1803813
29 FGFR2 NM_000141.5(FGFR2):c.*921G>ASNV Conflicting interpretations of pathogenicity 298983 rs185617859 10:123238450-123238450 10:121478936-121478936
30 FGFR2 NM_022970.3(FGFR2):c.1565-11A>GSNV Conflicting interpretations of pathogenicity 299000 rs41293744 10:123258130-123258130 10:121498616-121498616
31 FGFR2 NM_022970.3(FGFR2):c.625-10A>GSNV Conflicting interpretations of pathogenicity 299007 rs201512833 10:123298239-123298239 10:121538725-121538725
32 FGFR2 NM_000141.5(FGFR2):c.*674G>TSNV Conflicting interpretations of pathogenicity 298985 rs566155088 10:123238697-123238697 10:121479183-121479183
33 FGFR2 NM_000141.5(FGFR2):c.1239G>A (p.Pro413=)SNV Conflicting interpretations of pathogenicity 299003 rs147674677 10:123274679-123274679 10:121515165-121515165
34 FGFR2 NM_000141.5(FGFR2):c.2190C>T (p.Asn730=)SNV Conflicting interpretations of pathogenicity 514067 rs55637244 10:123244914-123244914 10:121485400-121485400
35 FGFR2 NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln)SNV Conflicting interpretations of pathogenicity 577711 rs199757302 10:123276928-123276928 10:121517414-121517414
36 FGFR1 NM_023110.2(FGFR1):c.168G>A (p.Arg56=)SNV Conflicting interpretations of pathogenicity 585866 rs147482922 8:38287390-38287390 8:38429872-38429872
37 FGFR3 NM_001163213.1(FGFR3):c.188C>G (p.Pro63Arg)SNV Conflicting interpretations of pathogenicity 465348 rs371729802 4:1801059-1801059 4:1799332-1799332
38 FGFR3 NM_001163213.1(FGFR3):c.1929C>T (p.Asp643=)SNV Conflicting interpretations of pathogenicity 497445 rs148104605 4:1807864-1807864 4:1806137-1806137
39 FGFR1 NM_023110.3(FGFR1):c.1869C>T (p.Asp623=)SNV Conflicting interpretations of pathogenicity 698394 8:38272405-38272405 8:38414887-38414887
40 FGFR1 NM_023110.3(FGFR1):c.1431-5G>ASNV Conflicting interpretations of pathogenicity 700452 8:38275514-38275514 8:38417996-38417996
41 FGFR2 NM_000141.5(FGFR2):c.780C>T (p.Ala260=)SNV Conflicting interpretations of pathogenicity 772255 10:123279652-123279652 10:121520138-121520138
42 FGFR2 NM_000141.5(FGFR2):c.714G>A (p.Gly238=)SNV Conflicting interpretations of pathogenicity 728535 10:123298140-123298140 10:121538626-121538626
43 FGFR2 NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu)SNV Conflicting interpretations of pathogenicity 877638 10:123274705-123274705 10:121515191-121515191
44 FGFR2 NM_000141.5(FGFR2):c.1562A>G (p.Asp521Gly)SNV Conflicting interpretations of pathogenicity 880347 10:123258119-123258119 10:121498605-121498605
45 FGFR2 NM_000141.5(FGFR2):c.201C>T (p.Ala67=)SNV Conflicting interpretations of pathogenicity 877763 10:123325127-123325127 10:121565613-121565613
46 FGFR2 NM_000141.5(FGFR2):c.-626C>ASNV Conflicting interpretations of pathogenicity 877152 10:123357951-123357951 10:121598437-121598437
47 FGFR2 NM_000141.5(FGFR2):c.33C>T (p.Val11=)SNV Conflicting interpretations of pathogenicity 879767 10:123353299-123353299 10:121593785-121593785
48 FGFR1 NM_023110.3(FGFR1):c.*1982A>CSNV Conflicting interpretations of pathogenicity 908569 8:38269164-38269164 8:38411646-38411646
49 FGFR1 NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu)SNV Conflicting interpretations of pathogenicity 909875 8:38271216-38271216 8:38413698-38413698
50 FGFR3 NM_001163213.1(FGFR3):c.1124A>G (p.Tyr375Cys)SNV Conflicting interpretations of pathogenicity 16342 rs121913485 4:1806099-1806099 4:1804372-1804372

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 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 TGFBR1 TCF12 IL11RA FGFR3 FGFR2 FGFR1
2
Show member pathways
13.39 TGFBR1 TCF12 SKI IL11RA FGFR3 FGFR2
3
Show member pathways
13.36 TGFBR1 IL11RA FGFR3 FGFR2 FGFR1 FGF8
4
Show member pathways
13.32 TWIST1 IL11RA FGFR3 FGFR2 FGFR1 FGF8
5
Show member pathways
13.28 TGFBR1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
6
Show member pathways
13.04 TGFBR1 TCF12 IL11RA FGFR3 FGFR2 FGFR1
7
Show member pathways
13.01 TGFBR1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
8
Show member pathways
12.97 TGFBR1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
9
Show member pathways
12.82 FGFR3 FGFR2 FGFR1 FGF8 FGF10
10
Show member pathways
12.72 TGFBR1 FGFR2 FGFR1 FGF8 FGF10
11
Show member pathways
12.69 FGFR3 FGFR2 FGFR1 FGF8 FGF10
12
Show member pathways
12.68 FGFR3 FGFR2 FGFR1 FGF8 FGF10
13 12.68 TGFBR1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
14 12.64 TGFBR1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
15
Show member pathways
12.61 FGFR3 FGFR2 FGFR1 FGF8 FGF10 BMP2
16 12.6 FGFR3 FGFR2 FGFR1 FGF8 FGF10
17
Show member pathways
12.51 FGFR3 FGFR2 FGFR1 FGF8 FGF10
18
Show member pathways
12.47 ZNF462 SMAD6 FGFR1 FGF8
19
Show member pathways
12.45 SMAD6 FGFR3 FGFR2 FGFR1
20
Show member pathways
12.43 TGFBR1 TCF12 FGFR2 BMP2
21
Show member pathways
12.4 TGFBR1 FGFR3 FGFR2 FGFR1
22
Show member pathways
12.36 FGFR3 FGFR2 FGFR1 FGF8 FGF10 BMP2
23
Show member pathways
12.35 FGFR3 FGFR2 FGFR1 FGF8 FGF10
24
Show member pathways
12.35 FGFR3 FGFR2 FGFR1 FGF8 FGF10
25
Show member pathways
12.3 FGFR3 FGFR2 FGFR1 FGF8 FGF10
26
Show member pathways
12.16 FGFR3 FGFR2 FGFR1 FGF8 FGF10
27 12.08 FGFR3 FGFR2 FGFR1 EFNB1
28
Show member pathways
12.03 FGFR3 FGFR2 FGFR1 FGF8 FGF10
29
Show member pathways
11.91 TGFBR1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
30 11.83 TGFBR1 SMAD6 BMP2
31 11.8 MSX2 FGF8 FGF10 BMP2
32
Show member pathways
11.7 SMAD6 SKI BMP2
33 11.68 FGFR3 FGFR2 FGFR1
34 11.6 TGFBR1 FGFR3 FGFR2 FGFR1 EFNB1
35 11.58 TGFBR1 SMAD6 SKI
36 11.57 FGFR3 FGFR2 FGFR1 FGF8 FGF10 BMP2
37 11.47 FGF8 FGF10 BMP2
38 11.45 FGFR3 FGFR2 FGFR1
39 11.43 FGFR3 FGFR2 FGFR1
40 11.25 FGFR3 FGFR1 FGF8 FGF10 BMP2
41 11.18 ZIC1 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
42 10.97 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 nuclear chromatin GO:0000790 9.73 TWIST1 TCF12 SMAD6 MSX2 ERF ALX4
2 nucleus GO:0005634 9.55 ZNF462 ZIC1 TWIST1 TGFBR1 TCF12 SMAD6
3 transcription factor complex GO:0005667 9.46 TCF12 SMAD6 SKI ALX4
4 receptor complex GO:0043235 9.35 TGFBR1 IL11RA FGFR3 FGFR2 FGFR1

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

(show top 50) (show all 94)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.24 TWIST1 SKI MSX2 FGFR2 FGFR1 ERF
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.24 ZNF462 ZIC1 TWIST1 TCF12 SKI FGFR2
3 nervous system development GO:0007399 10.16 ZIC1 TGFBR1 TCF12 NELL1 EFNB1
4 negative regulation of apoptotic process GO:0043066 10.16 TWIST1 TGFBR1 SMAD6 MSX2 FGF8
5 positive regulation of cell proliferation GO:0008284 10.16 TGFBR1 IL11RA FGFR3 FGFR2 FGFR1 FGF8
6 positive regulation of gene expression GO:0010628 10.15 TWIST1 TGFBR1 TCF12 FGF8 BMP2
7 negative regulation of cell proliferation GO:0008285 10.14 SMAD6 SKI MSX2 FGF10 BMP2
8 regulation of gene expression GO:0010468 10.11 ZNF462 TGFBR1 NELL1 FGFR1 FGF10
9 MAPK cascade GO:0000165 10.08 FGFR3 FGFR2 FGFR1 FGF8 FGF10
10 angiogenesis GO:0001525 10.06 TGFBR1 FGFR2 FGFR1 FGF10
11 cell-cell signaling GO:0007267 10.05 FGFR3 FGFR2 FGF10 EFNB1 BMP2
12 in utero embryonic development GO:0001701 10.04 TWIST1 TGFBR1 FGFR2 FGFR1 BMP2
13 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.03 FGFR3 FGFR2 FGF8 FGF10 BMP2
14 skeletal system development GO:0001501 10 TGFBR1 FGFR3 FGFR1 BMP2 ALX4
15 cell differentiation GO:0030154 9.96 ZIC1 TWIST1 TGFBR1 TCF12 NELL1 FGF8
16 osteoblast differentiation GO:0001649 9.95 TWIST1 MSX2 BMP2
17 lung development GO:0030324 9.95 FGFR2 FGFR1 FGF8 FGF10
18 transforming growth factor beta receptor signaling pathway GO:0007179 9.94 TGFBR1 SMAD6 SKI
19 ossification GO:0001503 9.94 TWIST1 MSX2 BMP2
20 muscle organ development GO:0007517 9.94 TWIST1 TCF12 ALX4
21 positive regulation of neuron differentiation GO:0045666 9.94 TCF12 FGFR1 BMP2
22 wound healing GO:0042060 9.94 TGFBR1 MSX2 FGFR2 FGF10
23 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.93 TGFBR1 SMAD6 SKI
24 BMP signaling pathway GO:0030509 9.93 SMAD6 SKI MSX2 BMP2
25 positive regulation of MAPK cascade GO:0043410 9.93 FGFR3 FGFR2 FGFR1 FGF10 BMP2
26 positive regulation of kinase activity GO:0033674 9.92 FGFR3 FGFR2 FGFR1
27 post-embryonic development GO:0009791 9.92 TGFBR1 FGFR2 ALX4
28 cell fate commitment GO:0045165 9.92 FGFR2 FGF8 BMP2
29 cellular response to growth factor stimulus GO:0071363 9.92 TWIST1 TGFBR1 MSX2 BMP2
30 roof of mouth development GO:0060021 9.92 TWIST1 TGFBR1 SKI ALX4
31 positive regulation of epithelial cell proliferation GO:0050679 9.91 TWIST1 FGFR2 FGF10
32 positive regulation of osteoblast differentiation GO:0045669 9.91 NELL1 MSX2 BMP2
33 bone development GO:0060348 9.91 TWIST1 FGFR2 FGF8
34 embryonic digit morphogenesis GO:0042733 9.9 TWIST1 MSX2 ALX4
35 negative regulation of osteoblast differentiation GO:0045668 9.9 TWIST1 SMAD6 SKI
36 embryonic limb morphogenesis GO:0030326 9.9 TWIST1 SKI MSX2 FGFR1
37 positive regulation of cell differentiation GO:0045597 9.89 FGFR1 FGF8 BMP2
38 positive regulation of epithelial to mesenchymal transition GO:0010718 9.89 TWIST1 TGFBR1 BMP2
39 chondrocyte differentiation GO:0002062 9.89 FGFR3 FGFR1 BMP2
40 bone mineralization GO:0030282 9.89 FGFR3 FGFR2 BMP2
41 ureteric bud development GO:0001657 9.88 SMAD6 FGFR2 FGFR1
42 embryonic cranial skeleton morphogenesis GO:0048701 9.87 TWIST1 TGFBR1 FGFR2
43 digestive tract development GO:0048565 9.87 FGFR2 FGF10 ALX4
44 embryonic forelimb morphogenesis GO:0035115 9.86 TWIST1 MSX2 ALX4
45 embryonic pattern specification GO:0009880 9.86 FGFR2 FGF10 EFNB1
46 skeletal system morphogenesis GO:0048705 9.86 TGFBR1 FGFR2 FGFR1 ALX4
47 epithelial to mesenchymal transition GO:0001837 9.85 TGFBR1 FGFR2 FGFR1 BMP2
48 positive regulation of protein kinase B signaling GO:0051897 9.85 TGFBR1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
49 limb morphogenesis GO:0035108 9.83 FGF8 FGF10 ALX4
50 regulation of smoothened signaling pathway GO:0008589 9.82 ZIC1 FGFR2 FGF10

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.93 ZIC1 TWIST1 TCF12 SMAD6 ERF ALX4
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.76 ZIC1 TWIST1 TCF12 SMAD6 SKI MSX2
3 heparin binding GO:0008201 9.62 NELL1 FGFR2 FGFR1 FGF10
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.54 FGFR3 FGFR2 FGFR1
5 HMG box domain binding GO:0071837 9.43 TCF12 ALX4
6 fibroblast growth factor binding GO:0017134 9.43 FGFR3 FGFR2 FGFR1
7 I-SMAD binding GO:0070411 9.4 TGFBR1 SMAD6
8 SMAD binding GO:0046332 9.26 TGFBR1 TCF12 SKI BMP2
9 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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