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 Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include Bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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 643)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 1 34.8 TWIST1 ERF
2 craniosynostosis 7 34.7 SMAD6 BMP2
3 fgfr-related craniosynostosis syndromes 34.3 FGFR3 FGFR2 FGFR1
4 jackson-weiss syndrome 34.3 FGFR3 FGFR2 FGFR1
5 syndromic craniosynostosis 34.2 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 ERF
6 muenke syndrome 33.9 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
7 carpenter syndrome 1 33.6 IL11RA FGFR3 FGFR2
8 pfeiffer syndrome 33.4 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
9 saethre-chotzen syndrome 33.2 TWIST1 TCF12 RECQL4 MSX2 FGFR3 FGFR2
10 antley-bixler syndrome 33.2 FGFR3 FGFR2 FGFR1
11 apert syndrome 33.1 TWIST1 TCF12 MSX2 FGFR3 FGFR2 FGFR1
12 osteoglophonic dysplasia 33.1 FGFR3 FGFR2 FGFR1
13 isolated plagiocephaly 33.0 ZIC1 TWIST1 TCF12 FGFR3
14 crouzon syndrome 32.9 TWIST1 MSX2 IL11RA FGFR3 FGFR2 FGFR1
15 chromosome 2q35 duplication syndrome 32.7 MSX2 FGFR3 FGFR2 FGFR1 FGF8 FGF10
16 hartsfield syndrome 32.6 FGFR1 FGF8
17 lacrimoauriculodentodigital syndrome 32.3 FGFR3 FGFR2 FGFR1 FGF8 FGF10
18 isolated scaphocephaly 32.2 TWIST1 ERF ALX4
19 plagiocephaly 32.1 TWIST1 FGFR3 FGFR2 FGFR1
20 isolated brachycephaly 31.9 ZIC1 TWIST1 TCF12 FGFR3
21 synostosis 31.8 TWIST1 TCF12 SMAD6 RECQL4 NELL1 MSX2
22 exophthalmos 31.7 FGFR3 FGFR2 FGFR1
23 hypertelorism 31.5 TWIST1 FGFR2 EFNB1 ALX4
24 hydrocephalus 31.5 TWIST1 FGFR3 FGFR2 FGFR1
25 dysostosis 31.3 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 ALX4
26 achondroplasia 31.3 MSX2 FGFR3 FGFR2 FGFR1
27 brachydactyly 31.3 MSX2 FGFR3 ERF BMP2
28 thanatophoric dysplasia, type i 31.2 FGFR3 FGFR2 FGFR1 FGF8
29 hypochondroplasia 31.1 FGFR3 FGFR2 FGFR1
30 parietal foramina 31.0 TWIST1 RECQL4 NELL1 MSX2 FGFR3 FGF8
31 cleft palate, isolated 31.0 TWIST1 TGFBR1 MSX2 FGFR3 FGFR2 FGFR1
32 holoprosencephaly 30.9 ZIC1 TWIST1 FGFR3 FGFR2 FGFR1 FGF8
33 ankylosis 30.9 FGFR2 FGFR1 BMP2
34 cleidocranial dysplasia 30.8 MSX2 FGFR2 FGFR1
35 achondroplasia, severe, with developmental delay and acanthosis nigricans 30.8 FGFR3 FGFR2 FGFR1
36 radioulnar synostosis 30.8 TWIST1 SMAD6 RECQL4 FGFR3 FGFR2 FGFR1
37 bone disease 30.6 FGFR3 FGFR2 FGFR1 BMP2
38 hypospadias 30.5 FGFR2 FGF8 FGF10
39 hemifacial microsomia 30.5 MSX2 FGFR1 FGF8
40 exposure keratitis 30.4 TCF12 FGFR2 EFNB1
41 renal hypodysplasia/aplasia 1 30.4 FGFR2 FGFR1 FGF8 FGF10
42 syngnathia 30.2 MSX2 FGF8
43 shprintzen-goldberg craniosynostosis syndrome 12.7
44 craniosynostosis 2 12.6
45 craniosynostosis and dental anomalies 12.6
46 craniosynostosis 4 12.6
47 craniosynostosis 5 12.6
48 craniosynostosis 3 12.5
49 craniosynostosis 6 12.5
50 hunter-mcalpine craniosynostosis syndrome 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 all 37)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10.23 FGF8
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.23 ERF
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.23 ERF NELL1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.23 ERF NELL1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.23 TWIST1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-128 10.23 FGF8
7 Increased shRNA abundance (Z-score > 2) GR00366-A-131 10.23 NELL1 TWIST1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.23 SKI
9 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.23 FGF8
10 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.23 ERF NELL1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.23 TGFBR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.23 SKI
13 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.23 TWIST1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.23 TGFBR1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.23 TGFBR1 FGF8
16 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.23 TGFBR1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-205 10.23 FGF8
18 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.23 NELL1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.23 TWIST1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.23 SKI
21 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.23 SKI
22 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.23 ERF NELL1 FGF8
23 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.23 TGFBR1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.23 TGFBR1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.23 NELL1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.23 FGF8
27 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.23 ERF NELL1 SKI FGF8 TWIST1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.23 NELL1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.23 FGF8
30 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.23 TGFBR1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.23 NELL1 SKI
32 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.23 ERF
33 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.23 ERF NELL1 SKI TGFBR1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.23 ERF
35 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.23 TGFBR1 FGF8
36 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.23 TGFBR1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-90 10.23 SKI

MGI Mouse Phenotypes related to Craniosynostosis:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.48 ALX4 BMP2 EFNB1 ERF FGF10 FGF8
2 behavior/neurological MP:0005386 10.44 ALX4 ERF FGF10 FGF8 FGFR1 FGFR2
3 craniofacial MP:0005382 10.41 ALX4 BMP2 EFNB1 ERF FGF10 FGF8
4 mortality/aging MP:0010768 10.38 ALX4 BMP2 EFNB1 ERF FGF10 FGF8
5 embryo MP:0005380 10.36 ALX4 BMP2 EFNB1 ERF FGF10 FGF8
6 cellular MP:0005384 10.35 BMP2 EFNB1 ERF FGF10 FGF8 FGFR1
7 digestive/alimentary MP:0005381 10.34 ALX4 BMP2 EFNB1 FGF10 FGF8 FGFR1
8 cardiovascular system MP:0005385 10.32 BMP2 ERF FGF10 FGF8 FGFR1 FGFR2
9 hematopoietic system MP:0005397 10.27 BMP2 EFNB1 ERF FGF10 FGF8 FGFR1
10 immune system MP:0005387 10.22 BMP2 EFNB1 FGF10 FGF8 FGFR1 FGFR2
11 nervous system MP:0003631 10.22 ALX4 BMP2 EFNB1 ERF FGF10 FGF8
12 limbs/digits/tail MP:0005371 10.21 ALX4 BMP2 EFNB1 FGF10 FGF8 FGFR1
13 endocrine/exocrine gland MP:0005379 10.19 EFNB1 FGF10 FGF8 FGFR1 FGFR2 MSX2
14 integument MP:0010771 10.16 ALX4 EFNB1 FGF10 FGFR1 FGFR2 FGFR3
15 hearing/vestibular/ear MP:0005377 10.11 BMP2 EFNB1 FGF10 FGF8 FGFR1 FGFR2
16 muscle MP:0005369 10.11 ALX4 FGF10 FGF8 FGFR1 FGFR2 MSX2
17 normal MP:0002873 9.96 ALX4 BMP2 ERF FGF10 FGF8 FGFR1
18 skeleton MP:0005390 9.86 ALX4 BMP2 EFNB1 ERF FGF10 FGF8
19 respiratory system MP:0005388 9.76 ALX4 EFNB1 FGF10 FGF8 FGFR2 FGFR3
20 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 93)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
4
Tranexamic Acid Approved Phase 4 1197-18-8 5526
5 Neurotransmitter Agents Phase 4
6 Antipsychotic Agents Phase 4
7 Central Nervous System Depressants Phase 4
8 Tranquilizing Agents Phase 4
9 Dopamine Agents Phase 4
10 Central Nervous System Stimulants Phase 4
11 Dopamine Antagonists Phase 4
12 Dopamine Uptake Inhibitors Phase 4
13 Serotonin Agents Phase 4
14 Psychotropic Drugs Phase 4
15 Serotonin Antagonists Phase 4
16 Hemostatics Phase 4
17 Coagulants Phase 4
18 Antifibrinolytic Agents Phase 4
19
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
20 Pharmaceutical Solutions Phase 3
21
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
22
Parathyroid hormone Approved, Investigational Phase 1, Phase 2 9002-64-6
23
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
24
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
25
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
26
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
27
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
28 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
29
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
30
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
31
Diphenhydramine Approved, Investigational Phase 1, Phase 2 147-24-0, 58-73-1 3100
32
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6 774
33
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
34
Aminocaproic acid Approved, Investigational Phase 2 60-32-2 564
35
Calcium Approved, Nutraceutical Phase 1, Phase 2 7440-70-2 271
36
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
37 Anesthetics Phase 1, Phase 2
38 Analgesics Phase 1, Phase 2
39 Analgesics, Non-Narcotic Phase 1, Phase 2
40 Antipyretics Phase 1, Phase 2
41 Calcium, Dietary Phase 1, Phase 2
42 Hormones Phase 1, Phase 2
43 Thymoglobulin Phase 1, Phase 2
44 Cyclosporins Phase 1, Phase 2
45 Antilymphocyte Serum Phase 1, Phase 2
46 Antiemetics Phase 1, Phase 2
47 Methylprednisolone Acetate Phase 1, Phase 2
48 Gastrointestinal Agents Phase 1, Phase 2
49 Antibiotics, Antitubercular Phase 1, Phase 2
50 Antitubercular Agents 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 Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
3 Tranexamic Acid for the Reduction of Allogeneic Blood Exposure in Infants and Children Having Craniofacial Surgery Terminated NCT00722436 Phase 4 Tranexamic acid;saline
4 Comparison of Allogenix Plus Demineralized Bone Matrix and Autogenous Bone Dust Versus Autogenous Bone Dust Alone in Ossification of Small Calvarial Defects, a Pilot Study. Withdrawn NCT01006148 Phase 4
5 The Effects of Fibrinogen Concentrate Infusion on Perioperative Blood Loss and Allogeneic Blood Conservation in Patients Undergoing Scoliosis Surgery Recruiting NCT03183479 Phase 3 Fibrinogen Concentrate Human;Normal saline
6 Blood Loss and Transfusion Requirement in Infants Treated With Tranexamic Acid Undergoing Craniosynostosis Reconstruction: A Randomized Placebo-Controlled Double Blind Study of Low and High Dose Therapy Suspended NCT01094977 Phase 3 Tranexamic Acid;Tranexamic Acid;Saline Placebo
7 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
8 Phase II Study of Thymus Transplantation in Complete DiGeorge Syndrome #668 Completed NCT00576407 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 Active, not recruiting NCT00579709 Phase 1
14 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Active, not recruiting NCT00566488 Phase 1
15 The Effect of Gender on the Consumption of Pain Medication in Infants Undergoing Craniosynostosis Repair or Untethering of Cord in ITU Unknown status NCT01996163
16 Non-invasive Epicutaneous Transfontanel Intracranial Pressure Monitoring in Children Under the Age of One: a Novel Technique Unknown status NCT02775669
17 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
18 Changes of Optic Nerve Sheath Diameter in Modified Prone Position in Craniosynostosis Children Completed NCT03131245
19 Neurobehavioral Correlates of Craniosynostosis Completed NCT00077831
20 Genetic Analysis of Craniosynostosis, Philadelphia Type (OMIM 601222) Completed NCT00367796
21 The Scalp Block for Postoperative Pain Control in Craniosynostosis Surgery: a Case Control Study Completed NCT04133467
22 Craniosynostosis: How to Improve the Diagnosis and Assist Patients and Their Families? Completed NCT02287805
23 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321 Tranexamic Acid;normal saline
24 Osteogenic Profiling of Tissue From Children With Craniosynostosis Completed NCT00773643
25 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650
26 The Affect of Radiated Versus Non-Irradiated Blood on Extracellular Potassium Levels in Infants Undergoing Craniosynostosis Repair Completed NCT02483702
27 Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary Results Completed NCT01672619
28 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
29 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
30 Genetic Analysis of Craniofrontonasal Syndrome Completed NCT00339846
31 A Remediation Program for Children at High-Risk of Schizophrenia: 22q11.2 Deletion Syndrome Completed NCT01781923
32 Detection and Quantification of Neonatal Intraventricular Hemorrhage Completed NCT01899651
33 Computer-Based Cognitive Remediation in Adolescents With VCFS Completed NCT00917189
34 Effectiveness of Tortle Midliner Positioning System on the Prevention and Treatment of Cranial Molding Deformities in Preterm Infants Completed NCT02366936
35 Craniosynostosis Network Recruiting NCT03025763
36 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
37 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
38 Bedside Resources to Gauge Intravascular Volume Status in Hypovolemic Infants in the Operating Room Recruiting NCT03915587
39 Bohring-Opitz Syndrome and ASXL-Related Phenotypes Registry Recruiting NCT03303716
40 Non-Invasive and Non-Contact Intracranial Pressure Waveform Recording Using Dynamic Video Ophthalmoscopy Recruiting NCT04046523
41 Biomarker for Hypophosphatasia Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02603042
42 A Pilot, Prospective Study of Myelin Imaging Changes in Patients With Neurosurgical Diseases Recruiting NCT03698838
43 Social Cognition Training and Cognitive Remediation : a New Tool for 22q11.2 Deletion Syndrome Recruiting NCT03284060
44 Genetic Modifiers of 22q11.2 Deletion Syndrome Active, not recruiting NCT00556530
45 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
46 A Monocentric, Prospective Clinical Study to Evaluation of Cerebral Oxygen Saturation by Near InfraRed Spectroscopy (NIRS) in Children With Craniosynostosis Not yet recruiting NCT04086056
47 Neurodevelopmental Outcomes in Craniosynostosis Repair Not yet recruiting NCT04072783
48 Clinical Feasibility Study of Preoperative Surgical Planning for Craniosynostosis Procedures Not yet recruiting NCT03812159
49 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
50 Efficacy of Oral Diltiazem Versus Combination of Oral Diltiazem With Intravenous Tranexamic Acid on the Intraoperative Bleeding in Functional Endoscopic Sinus Surgery Not yet recruiting NCT03580590 Early Phase 1 oral Diltiazem;IV Tranexamic Acid;Placebo Oral Tablet

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, Heart, Thyroid, Thymus, Skin, Testes
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 4211)
# 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. 54 61
20175913 2010
6
New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling. 54 61
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. 54 61
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
Ex vivo Noggin gene therapy inhibits bone formation in a mouse model of postoperative resynostosis. 54 61
19182668 2009
16
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. 54 61
18726952 2009
17
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. 54 61
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. 54 61
18242159 2008
21
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
22
The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis. 54 61
18317141 2008
23
FGF-2 signaling induces downregulation of TAZ protein in osteoblastic MC3T3-E1 cells. 54 61
18067853 2008
24
P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia. 54 61
18493134 2008
25
Roles of FGFR2 and twist in human craniosynostosis: insights from genetic mutations in cranial osteoblasts. 54 61
18391499 2008
26
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations. 54 61
18391498 2008
27
Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication. 54 61
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. 54 61
17694057 2007
32
Clinical dividends from the molecular genetic diagnosis of craniosynostosis. 54 61
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. 54 61
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. 54 61
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. 54 61
17414280 2007
41
Extracellular matrix and growth factors in the pathogenesis of some craniofacial malformations. 54 61
17703601 2007
42
FGFR3 mutations in benign skin tumors. 54 61
17172848 2006
43
Clinical dividends from the molecular genetic diagnosis of craniosynostosis. 54 61
16838304 2006
44
Sudden infant death in a patient with FGFR3 P250R mutation. 54 61
17103449 2006
45
The new bone biology: pathologic, molecular, and clinical correlates. 54 61
17103447 2006
46
Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma. 54 61
17074596 2006
47
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 54 61
17033969 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 241) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGFR2 NM_022970.3(FGFR2):c.1087+1311G>ASNV Pathogenic 13268 rs121918491 10:123276885-123276885 10:121517371-121517371
2 FGFR3 NM_000142.4(FGFR3):c.1138G>C (p.Gly380Arg)SNV Pathogenic 16328 rs28931614 4:1806119-1806119 4:1804392-1804392
3 FGFR3 NM_000142.4(FGFR3):c.1172C>A (p.Ala391Glu)SNV Pathogenic 16329 rs28931615 4:1806153-1806153 4:1804426-1804426
4 FGFR3 NM_000142.4(FGFR3):c.1620C>A (p.Asn540Lys)SNV Pathogenic 16337 rs28933068 4:1807371-1807371 4:1805644-1805644
5 FGFR3 NM_000142.4(FGFR3):c.1620C>G (p.Asn540Lys)SNV Pathogenic 16338 rs28933068 4:1807371-1807371 4:1805644-1805644
6 FGFR3 NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys)SNV Pathogenic 16339 rs121913483 4:1803568-1803568 4:1801841-1801841
7 FGFR3 NM_000142.4(FGFR3):c.749C>G (p.Pro250Arg)SNV Pathogenic 16340 rs4647924 4:1803571-1803571 4:1801844-1801844
8 FGFR3 NM_000142.4(FGFR3):c.1950G>C (p.Lys650Asn)SNV Pathogenic 16347 rs28928868 4:1807891-1807891 4:1806164-1806164
9 FGFR3 NM_000142.4(FGFR3):c.1862G>A (p.Arg621His)SNV Pathogenic 16355 rs121913113 4:1807803-1807803 4:1806076-1806076
10 FGFR3 NM_000142.4(FGFR3):c.2420G>T (p.Ter807Leu)SNV Pathogenic 65562 rs397515514 4:1808988-1808988 4:1807261-1807261
11 FGFR3 NM_000142.4(FGFR3):c.1949A>C (p.Lys650Thr)SNV Pathogenic 65855 rs121913105 4:1807890-1807890 4:1806163-1806163
12 46;XX;t(3;12)(q13.2;q14)dnTranslocation Pathogenic 267821
13 ZNF462 NM_021224.6(ZNF462):c.3787C>T (p.Arg1263Ter)SNV Pathogenic 402116 rs1060499549 9:109689980-109689980 9:106927699-106927699
14 ZNF462 NM_021224.6(ZNF462):c.4263del (p.Glu1422fs)deletion Pathogenic 402117 rs1060499551 9:109690455-109690455 9:106928174-106928174
15 ZNF462 NM_021224.6(ZNF462):c.2979_2980delinsA (p.Val994fs)indel Pathogenic 402118 rs1060499550 9:109689172-109689173 9:106926891-106926892
16 TRPS1 NM_014112.5(TRPS1):c.1230G>A (p.Trp410Ter)SNV Likely pathogenic 373946 rs1057518791 8:116616966-116616966 8:115604739-115604739
17 NPR2 NM_003995.3(NPR2):c.779A>T (p.Glu260Val)SNV Likely pathogenic 373988 rs757744435 9:35794006-35794006 9:35794009-35794009
18 NPR2 NM_003995.3(NPR2):c.2162_2172del (p.Ser721fs)deletion Likely pathogenic 373987 rs1057518817 9:35805941-35805951 9:35805944-35805954
19 FGFR2 NM_022970.3(FGFR2):c.1573A>G (p.Thr525Ala)SNV Likely pathogenic 376749 rs1057520044 10:123258111-123258111 10:121498597-121498597
20 FGFR2 NM_022970.3(FGFR2):c.1916A>C (p.Asn639Thr)SNV Likely pathogenic 376750 rs777169135 10:123247578-123247578 10:121488064-121488064
21 GRIN2B NM_000834.4(GRIN2B):c.2216T>G (p.Met739Arg)SNV Likely pathogenic 523381 rs1555103652 12:13722907-13722907 12:13569973-13569973
22 TCF12 NM_207037.2(TCF12):c.1606del (p.Thr536fs)deletion Likely pathogenic 691565 15:57555332-57555332 15:57263134-57263134
23 TCF12 NM_207037.2(TCF12):c.1769del (p.Asp589_Leu590insTer)deletion Likely pathogenic 691564 15:57565249-57565249 15:57273051-57273051
24 FGFR2 NM_022970.3(FGFR2):c.1697A>C (p.Glu566Ala)SNV Likely pathogenic 13294 rs121918506 10:123256215-123256215 10:121496701-121496701
25 FGFR3 NM_001163213.1(FGFR3):c.1144G>A (p.Gly382Arg)SNV Conflicting interpretations of pathogenicity 16327 rs28931614 4:1806119-1806119 4:1804392-1804392
26 FGFR3 NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys)SNV Conflicting interpretations of pathogenicity 16342 rs121913485 4:1806099-1806099 4:1804372-1804372
27 FGFR3 NM_000142.4(FGFR3):c.1948A>C (p.Lys650Gln)SNV Conflicting interpretations of pathogenicity 16348 rs78311289 4:1807889-1807889 4:1806162-1806162
28 FGFR3 NM_000142.4(FGFR3):c.1223C>T (p.Ser408Phe)SNV Conflicting interpretations of pathogenicity 255326 rs761877926 4:1806204-1806204 4:1804477-1804477
29 FGFR3 NM_000142.4(FGFR3):c.598C>T (p.Arg200Cys)SNV Conflicting interpretations of pathogenicity 287276 rs886043613 4:1803246-1803246 4:1801519-1801519
30 FGFR1 NM_023110.2(FGFR1):c.75G>A (p.Pro25=)SNV Conflicting interpretations of pathogenicity 362911 rs17175757 8:38314890-38314890 8:38457372-38457372
31 FGFR1 NM_023110.2(FGFR1):c.1368G>T (p.Met456Ile)SNV Conflicting interpretations of pathogenicity 362896 rs200776757 8:38275808-38275808 8:38418290-38418290
32 FGFR1 NM_023110.2(FGFR1):c.549C>T (p.Thr183=)SNV Conflicting interpretations of pathogenicity 362902 rs886062920 8:38285511-38285511 8:38427993-38427993
33 FGFR3 NM_000142.4(FGFR3):c.1052C>G (p.Ser351Cys)SNV Conflicting interpretations of pathogenicity 372751 rs1057517964 4:1805540-1805540 4:1803813-1803813
34 FGFR3 NM_000142.4(FGFR3):c.188C>G (p.Pro63Arg)SNV Conflicting interpretations of pathogenicity 465348 rs371729802 4:1801059-1801059 4:1799332-1799332
35 FGFR3 NM_000142.4(FGFR3):c.77G>A (p.Gly26Glu)SNV Uncertain significance 465357 rs1221876688 4:1795738-1795738 4:1794011-1794011
36 IGF1R NM_000875.5(IGF1R):c.580_581del (p.Lys194fs)deletion Uncertain significance 691568 15:99251276-99251277 15:98708047-98708048
37 SPECC1L NM_015330.5(SPECC1L):c.1915C>T (p.Arg639Ter)SNV Uncertain significance 691567 22:24718863-24718863 22:24322895-24322895
38 FBN1 NC_000015.10:g.48534148G>ASNV Uncertain significance 691913 15:48826345-48826345 15:48534148-48534148
39 ERF NM_006494.4(ERF):c.1300G>A (p.Glu434Lys)SNV Uncertain significance 691920 19:42752964-42752964 19:42248812-42248812
40 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1666C>T (p.Arg556Ter)SNV Uncertain significance 691918 1:150529186-150529186 1:150556710-150556710
41 CYP26B1 NM_019885.3(CYP26B1):c.74_77dup (p.Val28fs)duplication Uncertain significance 691921 2:72374886-72374887 2:72147757-72147758
42 WDR19 NM_025132.4(WDR19):c.2720C>T (p.Ala907Val)SNV Uncertain significance 691914 4:39247063-39247063 4:39245443-39245443
43 MSX1 NM_002448.3(MSX1):c.817G>A (p.Gly273Ser)SNV Uncertain significance 691922 4:4864775-4864775 4:4863048-4863048
44 IL11RA NM_001142784.2(IL11RA):c.343C>T (p.Arg115Cys)SNV Uncertain significance 691924 9:34657043-34657043 9:34657046-34657046
45 PTCH1 NM_000264.5(PTCH1):c.1193C>T (p.Ala398Val)SNV Uncertain significance 691919 9:98241304-98241304 9:95479022-95479022
46 ERF NM_006494.4(ERF):c.383T>G (p.Val128Gly)SNV Uncertain significance 691916 19:42753881-42753881 19:42249729-42249729
47 SPECC1L NM_015330.5(SPECC1L):c.1619G>A (p.Arg540His)SNV Uncertain significance 691915 22:24718567-24718567 22:24322599-24322599
48 PTCH1 NM_000264.5(PTCH1):c.1347+6G>TSNV Uncertain significance 691917 9:98240331-98240331 9:95478049-95478049
49 FGFR3 NM_000142.4(FGFR3):c.436_445+2deldeletion Uncertain significance 533892 rs1030059712 4:1801520-1801531 4:1799793-1799804
50 FGFR3 NM_000142.4(FGFR3):c.445+2_445+5deldeletion Uncertain significance 533894 rs756854039 4:1801538-1801541 4:1799811-1799814

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
13.39 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 TGFBR1 FGFR3 FGFR2 FGFR1 FGF8 FGF10
8
Show member pathways
12.96 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 12.67 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 12.59 FGFR3 FGFR2 FGFR1 FGF8 FGF10
17
Show member pathways
12.5 FGFR3 FGFR2 FGFR1 FGF8 FGF10
18
Show member pathways
12.47 ZNF462 SMAD6 FGFR1 FGF8
19
Show member pathways
12.42 TGFBR1 TCF12 FGFR2 BMP2
20
Show member pathways
12.39 TGFBR1 FGFR3 FGFR2 FGFR1
21
Show member pathways
12.35 FGFR3 FGFR2 FGFR1 FGF8 FGF10 BMP2
22
Show member pathways
12.34 FGFR3 FGFR2 FGFR1 FGF8 FGF10
23
Show member pathways
12.34 FGFR3 FGFR2 FGFR1 FGF8 FGF10
24
Show member pathways
12.3 FGFR3 FGFR2 FGFR1 FGF8 FGF10
25
Show member pathways
12.17 IL11RA FGFR3 FGFR2 FGFR1
26
Show member pathways
12.16 FGFR3 FGFR2 FGFR1 FGF8 FGF10
27 12.07 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 11.82 TGFBR1 SMAD6 BMP2
31
Show member pathways
11.69 SMAD6 SKI BMP2
32 11.66 FGFR3 FGFR2 FGFR1
33 11.6 TGFBR1 FGFR3 FGFR2 FGFR1 EFNB1
34 11.57 TGFBR1 SMAD6 SKI
35 11.57 FGFR3 FGFR2 FGFR1 FGF8 FGF10 BMP2
36 11.46 FGF8 FGF10 BMP2
37 11.45 FGFR3 FGFR2 FGFR1
38 11.41 FGFR3 FGFR2 FGFR1
39 11.25 FGFR3 FGFR1 FGF8 FGF10 BMP2
40 11.18 ZIC1 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
41 10.96 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 90)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.23 TWIST1 SKI MSX2 FGFR2 FGFR1 ERF
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.23 ZNF462 ZIC1 TWIST1 TCF12 SKI FGFR2
3 multicellular organism development GO:0007275 10.22 ZIC1 TWIST1 TCF12 RECQL4 MSX2 FGF8
4 negative regulation of apoptotic process GO:0043066 10.16 TWIST1 TGFBR1 SMAD6 MSX2 FGF8
5 nervous system development GO:0007399 10.15 ZIC1 TGFBR1 TCF12 NELL1 EFNB1
6 positive regulation of cell proliferation GO:0008284 10.15 TGFBR1 IL11RA FGFR3 FGFR2 FGFR1 FGF8
7 positive regulation of gene expression GO:0010628 10.14 TWIST1 TGFBR1 TCF12 FGF8 BMP2
8 negative regulation of cell proliferation GO:0008285 10.14 SMAD6 SKI MSX2 FGF10 BMP2
9 MAPK cascade GO:0000165 10.08 FGFR3 FGFR2 FGFR1 FGF8 FGF10
10 regulation of gene expression GO:0010468 10.06 ZNF462 TGFBR1 NELL1 FGFR1 FGF10
11 angiogenesis GO:0001525 10.05 TGFBR1 FGFR2 FGFR1 FGF10
12 in utero embryonic development GO:0001701 10.04 TWIST1 TGFBR1 FGFR2 FGFR1 BMP2
13 cell-cell signaling GO:0007267 10.03 FGFR3 FGFR2 FGF10 EFNB1 BMP2
14 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.02 FGFR3 FGFR2 FGF8 FGF10 BMP2
15 skeletal system development GO:0001501 9.99 TGFBR1 FGFR3 FGFR1 BMP2 ALX4
16 wound healing GO:0042060 9.96 TGFBR1 MSX2 FGFR2 FGF10
17 lung development GO:0030324 9.95 FGFR2 FGFR1 FGF8 FGF10
18 osteoblast differentiation GO:0001649 9.94 TWIST1 MSX2 BMP2
19 muscle organ development GO:0007517 9.94 TWIST1 TCF12 ALX4
20 transforming growth factor beta receptor signaling pathway GO:0007179 9.94 TGFBR1 SMAD6 SKI
21 positive regulation of neuron differentiation GO:0045666 9.94 TCF12 FGFR1 BMP2
22 ossification GO:0001503 9.94 TWIST1 MSX2 BMP2
23 post-embryonic development GO:0009791 9.93 TGFBR1 FGFR2 ALX4
24 BMP signaling pathway GO:0030509 9.93 SMAD6 SKI MSX2 BMP2
25 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.92 TGFBR1 SMAD6 SKI
26 cellular response to growth factor stimulus GO:0071363 9.92 TWIST1 TGFBR1 MSX2 BMP2
27 positive regulation of MAPK cascade GO:0043410 9.92 FGFR3 FGFR2 FGFR1 FGF10 BMP2
28 positive regulation of epithelial cell proliferation GO:0050679 9.91 TWIST1 FGFR2 FGF10
29 cell fate commitment GO:0045165 9.91 FGFR2 FGF8 BMP2
30 positive regulation of osteoblast differentiation GO:0045669 9.91 NELL1 MSX2 BMP2
31 bone development GO:0060348 9.91 TWIST1 FGFR2 FGF8
32 roof of mouth development GO:0060021 9.91 TWIST1 TGFBR1 SKI ALX4
33 embryonic digit morphogenesis GO:0042733 9.9 TWIST1 MSX2 ALX4
34 negative regulation of osteoblast differentiation GO:0045668 9.9 TWIST1 SMAD6 SKI
35 positive regulation of cell differentiation GO:0045597 9.9 FGFR1 FGF8 BMP2
36 embryonic limb morphogenesis GO:0030326 9.9 TWIST1 SKI MSX2 FGFR1
37 positive regulation of epithelial to mesenchymal transition GO:0010718 9.89 TWIST1 TGFBR1 BMP2
38 bone mineralization GO:0030282 9.89 FGFR3 FGFR2 BMP2
39 ureteric bud development GO:0001657 9.88 SMAD6 FGFR2 FGFR1
40 chondrocyte differentiation GO:0002062 9.88 FGFR3 FGFR1 BMP2
41 epithelial to mesenchymal transition GO:0001837 9.88 TGFBR1 FGFR2 BMP2
42 embryonic cranial skeleton morphogenesis GO:0048701 9.88 TWIST1 TGFBR1 FGFR2
43 digestive tract development GO:0048565 9.87 FGFR2 FGF10 ALX4
44 embryonic forelimb morphogenesis GO:0035115 9.87 TWIST1 MSX2 ALX4
45 cell differentiation GO:0030154 9.85 ZIC1 TWIST1 TGFBR1 TCF12 NELL1 FGF8
46 skeletal system morphogenesis GO:0048705 9.84 TGFBR1 FGFR2 FGFR1 ALX4
47 limb morphogenesis GO:0035108 9.83 FGF8 FGF10 ALX4
48 regulation of smoothened signaling pathway GO:0008589 9.83 ZIC1 FGFR2 FGF10
49 embryonic pattern specification GO:0009880 9.82 FGFR2 FGF10 EFNB1
50 positive regulation of Wnt signaling pathway GO:0030177 9.81 SKI FGFR2 FGF10 BMP2

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 9.91 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 9.46 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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