MCID: CRN037
MIFTS: 66

Craniosynostosis

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

Aliases & Classifications for Craniosynostosis

MalaCards integrated aliases for Craniosynostosis:

Name: Craniosynostosis 39 12 77 54 55 30 56 6 15 41 74
Craniosynostosis Syndrome 30 6
Premature Closure of Cranial Sutures 12
Craniosynostoses 45
Craniostenosis 54
Cso 54

Classifications:



External Ids:

Disease Ontology 12 DOID:2340
MeSH 45 D003398
NCIt 51 C84655
SNOMED-CT 69 57219006
ICD10 34 Q75.0
UMLS 74 C0010278

Summaries for Craniosynostosis

NIH Rare Diseases : 54 Craniosynostosis is the premature closure of one or more of the joints that connect the bones of a baby's skull (cranial sutures). Normally, the bones remain separate until about age 2, while the brain is growing. They then fuse together and stay connected throughout life. The closure is premature when it occurs before brain growth is complete. Symptoms and severity vary depending on how many sutures close prematurely. For example, if only one closes prematurely (which is most common), brain growth may continue in other parts of the skull, leading only to an abnormally-shaped skull and no other health problems or complications. If multiple sutures close prematurely, brain growth can be restricted. This can lead to increased pressure in the skull, impaired brain development, seizures, blindness, and/or intellectual disability. Craniosynostosis may occur as a single abnormality (isolated craniosynostosis) or it may occur as one feature of one of many syndromes. Most cases of isolated craniosynostosis occur randomly (sporadically) and have no known cause. In some cases, isolated craniosynostosis is due to a mutation in any of several genes, with autosomal dominant inheritance. When craniosynostosis is a feature of a larger syndrome (syndromic craniosynostosis), the cause and inheritance pattern depend on the syndrome the person has. However, most syndromic causes of craniosynostosis are autosomal dominant. Craniosynostosis can also be associated with a metabolic disease such as rickets, or hyperthyroidism. Treatment for craniosynostosis depends on the severity in each child and may involve surgery in infancy to relieve pressure within the skull, allow for brain growth, and improve the appearance of the shape of the head. However, not all children with craniosynostosis will need surgery. The long-term outlook depends on how many sutures are involved and whether the child has a larger syndrome or other health problems. Children who have surgery and are otherwise healthy generally do not experience long-term complications, especially when only one suture is involved.

MalaCards based summary : Craniosynostosis, also known as craniosynostosis syndrome, is related to craniosynostosis 1 and jackson-weiss syndrome. An important gene associated with Craniosynostosis is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are TGF-Beta Pathway and Developmental Biology. The drugs Tranexamic Acid and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include Bone and 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 : 55 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 : 77 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 357)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 1 34.2 ERF TWIST1
2 jackson-weiss syndrome 33.6 FGFR1 FGFR2 FGFR3
3 beare-stevenson cutis gyrata syndrome 33.3 FGFR2 FGFR3
4 saethre-chotzen syndrome 32.7 FGFR1 FGFR2 FGFR3 MSX2 RECQL4 TWIST1
5 muenke syndrome 32.6 EFNB1 FGF10 FGF2 FGF8 FGFR1 FGFR2
6 pfeiffer syndrome 32.5 FGF10 FGF8 FGFR1 FGFR2 FGFR3 TWIST1
7 apert syndrome 32.5 FGF10 FGF2 FGFR1 FGFR2 FGFR3 TWIST1
8 chromosome 2q35 duplication syndrome 32.3 FGFR2 FGFR3 NOG
9 crouzon syndrome 32.3 ERF FGF2 FGFR1 FGFR2 FGFR3 IL11RA
10 osteoglophonic dysplasia 32.2 FGFR1 FGFR2 FGFR3
11 isolated plagiocephaly 31.8 FGFR3 TCF12 TWIST1 ZIC1
12 lacrimoauriculodentodigital syndrome 31.6 FGF10 FGF8 FGFR1 FGFR2 FGFR3
13 plagiocephaly 30.9 FGFR1 FGFR2 FGFR3 TWIST1
14 isolated scaphocephaly 30.8 ALX4 ERF TWIST1
15 isolated brachycephaly 30.7 FGFR3 TCF12 TWIST1 ZIC1
16 achondroplasia 30.6 FGFR1 FGFR2 FGFR3
17 radioulnar synostosis 30.4 FGFR1 FGFR2 FGFR3
18 cleft palate, isolated 30.4 FGFR1 FGFR2 TGFBR2 TWIST1
19 parietal foramina 30.4 ALX4 MSX2 TWIST1
20 hypochondroplasia 30.2 FGFR1 FGFR2 FGFR3
21 autosomal dominant disease 29.9 ALX4 FGFR2 FGFR3 MSX2 TGFBR2
22 hypertelorism 29.9 EFNB1 FGFR2 TWIST1
23 synostosis 29.8 EFNB1 FGFR1 FGFR2 FGFR3 MSX2 NELL1
24 hypospadias 29.7 FGF10 FGF8 FGFR2
25 dysostosis 29.6 ALX4 FGFR2 TWIST1
26 shprintzen-goldberg craniosynostosis syndrome 12.5
27 craniosynostosis 2 12.5
28 craniosynostosis 7 12.4
29 craniosynostosis and dental anomalies 12.4
30 craniosynostosis 5 12.4
31 craniosynostosis 3 12.4
32 craniosynostosis 6 12.4
33 craniosynostosis 4 12.4
34 holoprosencephaly, semilobar, with craniosynostosis 12.3
35 dandy-walker malformation with sagittal craniosynostosis and hydrocephalus 12.3
36 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 12.3
37 baller-gerold syndrome 12.3
38 craniosynostosis, adelaide type 12.1
39 hunter-mcalpine craniosynostosis syndrome 12.1
40 craniostenosis cataract 12.1
41 herrmann opitz craniosynostosis 12.1
42 scarf syndrome 12.0
43 fgfr-related craniosynostosis syndromes 12.0
44 craniosynostosis philadelphia type 12.0
45 craniosynostosis with ectopia lentis 12.0
46 craniosynostosis-mental retardation-clefting syndrome 12.0
47 craniosynostosis with fibular aplasia 11.9
48 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 11.9
49 craniosynostosis, calcification of basal ganglia, and facial dysmorphism 11.9
50 glass-chapman-hockley syndrome 11.9

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:

27 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.84 FGF8
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.84 ERF
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.84 ERF NELL1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.84 ERF NELL1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.84 TWIST1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.84 FGF8
7 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.84 NELL1 TWIST1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.84 FGF8
9 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.84 ERF NELL1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.84 TWIST1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.84 FGF8
12 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.84 NELL1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.84 TWIST1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.84 ERF FGF8 NELL1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.84 NELL1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.84 FGF8
17 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.84 ERF FGF8 NELL1 TWIST1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.84 NELL1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.84 FGF8
20 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.84 NELL1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.84 ERF
22 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.84 TWIST1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.84 ERF
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.84 FGF8

MGI Mouse Phenotypes related to Craniosynostosis:

47 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.47 ALX4 FGF10 FGF2 FGF8 FGFR1 FGFR2
2 growth/size/body region MP:0005378 10.45 ALX4 EFNB1 ERF FGF10 FGF8 FGFR1
3 craniofacial MP:0005382 10.41 ALX4 EFNB1 ERF FGF10 FGF8 FGFR1
4 mortality/aging MP:0010768 10.38 ALX4 EFNB1 ERF FGF10 FGF2 FGF8
5 cellular MP:0005384 10.35 EFNB1 ERF FGF10 FGF2 FGF8 FGFR1
6 digestive/alimentary MP:0005381 10.34 ALX4 EFNB1 FGF10 FGF8 FGFR1 FGFR2
7 embryo MP:0005380 10.33 ALX4 EFNB1 ERF FGF10 FGF8 FGFR1
8 cardiovascular system MP:0005385 10.32 ERF FGF10 FGF2 FGF8 FGFR1 FGFR2
9 hematopoietic system MP:0005397 10.27 EFNB1 ERF FGF10 FGF2 FGF8 FGFR1
10 endocrine/exocrine gland MP:0005379 10.24 EFNB1 FGF10 FGF8 FGFR1 FGFR2 MSX2
11 nervous system MP:0003631 10.22 ALX4 EFNB1 ERF FGF10 FGF2 FGF8
12 immune system MP:0005387 10.18 EFNB1 FGF10 FGF8 FGFR1 FGFR2 FGFR3
13 limbs/digits/tail MP:0005371 10.17 ALX4 EFNB1 FGF10 FGF8 FGFR1 FGFR2
14 hearing/vestibular/ear MP:0005377 10.16 EFNB1 FGF10 FGF2 FGF8 FGFR1 FGFR2
15 integument MP:0010771 10.16 ALX4 EFNB1 FGF10 FGFR1 FGFR2 FGFR3
16 muscle MP:0005369 10.15 ALX4 FGF10 FGF2 FGF8 FGFR1 FGFR2
17 normal MP:0002873 9.96 ALX4 ERF FGF10 FGF8 FGFR1 FGFR2
18 skeleton MP:0005390 9.86 ALX4 EFNB1 ERF FGF10 FGF2 FGF8
19 respiratory system MP:0005388 9.81 ALX4 EFNB1 FGF10 FGF8 FGFR2 FGFR3
20 vision/eye MP:0005391 9.44 ALX4 EFNB1 FGF10 FGF2 FGF8 FGFR1

Drugs & Therapeutics for Craniosynostosis

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

(show top 50) (show all 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4,Phase 3,Not Applicable 1197-18-8 5526
2
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
5 Antifibrinolytic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
6 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
7 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
8 Skullcap Phase 4,Phase 1
9 Central Nervous System Stimulants Phase 4
10 Dopamine Antagonists Phase 4
11 Tranquilizing Agents Phase 4
12 Dopamine Uptake Inhibitors Phase 4
13 Antipsychotic Agents Phase 4
14 Central Nervous System Depressants Phase 4,Phase 1,Phase 2
15 Neurotransmitter Uptake Inhibitors Phase 4
16 Dopamine Agents Phase 4
17 Psychotropic Drugs Phase 4
18 Neurotransmitter Agents Phase 4,Phase 1,Phase 2
19 Serotonin Agents Phase 4
20 Serotonin Antagonists Phase 4
21
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
22
Aminocaproic Acid Approved, Investigational Phase 2,Phase 1 60-32-2 564
23
Parathyroid hormone Approved, Investigational Phase 1, Phase 2,Phase 2 9002-64-6
24
Diphenhydramine Approved, Investigational Phase 1, Phase 2 147-24-0, 58-73-1 3100
25
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
26
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
27
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
28
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 6473866 445643 439492
29
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
30
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
31
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
32
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
33
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6 774
34
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
35
Calcium Approved, Nutraceutical Phase 1, Phase 2,Phase 2,Not Applicable 7440-70-2 271
36
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
37 Peripheral Nervous System Agents Phase 1, Phase 2
38 Analgesics Phase 1, Phase 2
39 Calcium, Dietary Phase 1, Phase 2,Phase 2,Not Applicable
40 Anesthetics Phase 1, Phase 2,Phase 2,Not Applicable
41 Anti-Bacterial Agents Phase 1, Phase 2
42 Anti-Inflammatory Agents Phase 1, Phase 2
43 Anti-Allergic Agents Phase 1, Phase 2
44
Histamine Phosphate Phase 1, Phase 2 51-74-1 65513
45 Prednisolone acetate Phase 1, Phase 2
46 Histamine H1 Antagonists Phase 1, Phase 2
47 Immunosuppressive Agents Phase 1, Phase 2
48 Anesthetics, Local Phase 1, Phase 2
49 Antipyretics Phase 1, Phase 2
50 Anti-Infective Agents Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 56)
# Name Status NCT ID Phase Drugs
1 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Completed NCT02188576 Phase 4 high dose TXA;Low dose TXA
2 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
3 Tranexamic Acid for Craniofacial Surgery Terminated NCT00722436 Phase 4 Tranexamic acid;saline
4 Comparison of a Bone Product to Bone Dust in Ossification of Small Calvarial Defects. Withdrawn NCT01006148 Phase 4
5 Blood Loss and Transfusion Requirement in Infants Treated With Tranexamic Acid Unknown status NCT01094977 Phase 3 Tranexamic Acid;Tranexamic Acid;Saline Placebo
6 Efficacy of Amicar for Children Having Craniofacial Surgery Active, not recruiting NCT02229968 Phase 2 Amicar (ε-aminocaproic acid);normal saline
7 Thymus Transplantation in DiGeorge Syndrome #668 Active, not recruiting NCT00576407 Phase 2
8 Phase I/II Thymus Transplantation With Immunosuppression #950 Active, not recruiting NCT00579527 Phase 1, Phase 2 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Daclizumab;Mycophenolate mofetil
9 Thymus Transplantation Dose in DiGeorge #932 Active, not recruiting NCT00576836 Phase 2
10 Amicar Pharmacokinetics of Children Having Craniofacial Surgery Completed NCT00912119 Phase 1 Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid
11 Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions Completed NCT02895906 Phase 1 NFC-1
12 Thymus Transplantation With Immunosuppression Active, not recruiting NCT00579709 Phase 1
13 Parathyroid and Thymus Transplantation in DiGeorge #931 Active, not recruiting NCT00566488 Phase 1
14 The Effect of Gender on the Consumption of Pain Medication in Infants Undergoing Craniosynostosis Repair or Untethering of Cord in ITU Unknown status NCT01996163
15 Non-invasive Epicutaneous Transfontanel Intracranial Pressure Monitoring in Children Under the Age of One: a Novel Technique Unknown status NCT02775669
16 Non-Invasive Chromosomal Evaluation of 22q11.2 Unknown status NCT02541058
17 Genetic Modifiers for 22q11.2 Syndrome Unknown status NCT00916955
18 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
19 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
20 Qualitative and Quantitative Study Which Aims to Determine the Specifics of the Announcement for the Diagnosis of Patients With Craniosynostosis and Their Parents to Better Support Them in Their Care Completed NCT02287805
21 Genetic Analysis of Craniosynostosis, Philadelphia Type Completed NCT00367796
22 Osteogenic Profiling of Tissue From Children With Craniosynostosis Completed NCT00773643 Not Applicable
23 Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary Results Completed NCT01672619
24 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321 Not Applicable Tranexamic Acid;normal saline
25 Child and Infant Learning Project Completed NCT00077831
26 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650 Not Applicable
27 Irradiated Blood Versus Non Irradiated Blood Transfusions in Craniosynostosis Repair Completed NCT02483702 Not Applicable
28 Optic Nerve Sheath Diameter in Craniosynostosis Completed NCT03131245
29 Genetic Analysis of Craniofrontonasal Syndrome Completed NCT00339846
30 Detection and Quantification of Neonatal Intraventricular Hemorrhage Completed NCT01899651
31 Treatment of Cranial Molding Deformities in Preterm Infants Completed NCT02366936 Not Applicable
32 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
33 Cognitive Remediation in 22q11DS Completed NCT01781923 Not Applicable
34 Computerized Cognitive Skills Training for Adolescents With Velocardiofacial Syndrome Completed NCT00917189 Not Applicable
35 Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study Completed NCT00105274
36 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
37 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Completed NCT02787486
38 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
39 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
40 Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones Recruiting NCT03025763
41 Comparison of the Rate of Preoperative Haemoglobin After Administration of Epoetin Alpha Associated With an Oral Medical Supplementation Versus Intravenous Before Surgery of Craniosynostosis at the Child Recruiting NCT03231085 Not Applicable Ferrous fumarate or ferrostrane
42 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
43 Bedside Resources to Gauge Intravascular Volume Status Recruiting NCT03915587 Not Applicable
44 Myelin Imaging Changes In Patients With Neurosurgical Diseases Recruiting NCT03698838
45 Social Cognition Training and Cognitive Remediation Recruiting NCT03284060 Not Applicable
46 First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome Recruiting NCT03375359
47 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
48 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
49 Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome Active, not recruiting NCT00556530
50 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Active, not recruiting NCT02381457

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 30
2 Craniosynostosis 30

Anatomical Context for Craniosynostosis

MalaCards organs/tissues related to Craniosynostosis:

42
Bone, Brain, Thymus, Thyroid, Heart, Testes, Skin

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

20
Skull
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 1935)
# Title Authors Year
1
Apert syndrome without craniosynostosis. ( 30643948 )
2019
2
A unique case of CHARGE syndrome with craniosynostosis. ( 30498854 )
2019
3
Craniometric Analysis of Endoscopic Suturectomy for Bilateral Coronal Craniosynostosis. ( 30325899 )
2019
4
A Standardized Perioperative Clinical Pathway for Uncomplicated Craniosynostosis Repair Is Associated With Reduced Hospital Resource Utilization. ( 30376505 )
2019
5
Postsurgical Changes in Osseous Dysmorphology of the Midface and Mandible in Unilateral Coronal Craniosynostosis. ( 30376506 )
2019
6
Multisuture Craniosynostosis and Papilledema in Pycnodysostosis: A Paradox? ( 30394969 )
2019
7
Tranexamic Acid Decreases Blood Transfusion Burden in Open Craniosynostosis Surgery Without Operative Compromise. ( 30394976 )
2019
8
Posterior Distraction First or Fronto-Orbital Advancement First for Severe Syndromic Craniosynostosis. ( 30418288 )
2019
9
Perinasal Osteotomy With Distraction Osteogenesis for a Mild Syndromic Craniosynostosis. ( 30418289 )
2019
10
Development of Multidirectional Cranial Distraction Osteogenesis for the Treatment of Craniosynostosis. ( 30444786 )
2019
11
Ulnar Artery Thrombosis Following Tranexamic Acid Administration for Craniosynostosis Repair. ( 30444787 )
2019
12
Non-Syndromic Craniosynostosis Mimicking Primary Pseudotumor Cerebri Syndrome. ( 30474204 )
2019
13
Reliable manifestations of increased intracranial pressure in patients with syndromic craniosynostosis. ( 30497950 )
2019
14
Wider Suturectomy Before Posterior Distraction for Craniosynostosis. ( 30507884 )
2019
15
Sagittal craniosynostosis associated with midline cephalhematoma or vice versa, case report and a review of the literature. ( 30539297 )
2019
16
Discussion: Craniometric Analysis of Endoscopic Suturectomy for Bilateral Coronal Craniosynostosis. ( 30589793 )
2019
17
Discussion: Craniometric Analysis of Endoscopic Suturectomy for Bilateral Coronal Craniosynostosis. ( 30589794 )
2019
18
Risk Factors for Preoperative Developmental Delay in Patients with Nonsyndromic Sagittal Craniosynostosis. ( 30589799 )
2019
19
Intracranial volume (ICV) in isolated sagittal craniosynostosis: a retrospective case-matched-control study. ( 30617577 )
2019
20
Short- and Long-Term Outcomes by Procedure Type for Nonsagittal Single-Suture Craniosynostosis. ( 30640851 )
2019
21
Evaluation of Endoscopic Strip Craniectomy and Orthotic Therapy for Bilateral Coronal Craniosynostosis. ( 30640858 )
2019
22
Nonsyndromic craniosynostosis: novel coding variants. ( 30651579 )
2019
23
Review of the Use of Stainless Wires in Craniosynostosis Surgery. ( 30664558 )
2019
24
Understanding the Learning Disabilities Linked to Sagittal Craniosynostosis. ( 30676447 )
2019
25
Impact of surgery timing for craniosynostosis on neurodevelopmental outcomes: a systematic review. ( 30684935 )
2019
26
Signaling Mechanisms Underlying Genetic Pathophysiology of Craniosynostosis. ( 30745822 )
2019
27
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome. ( 30758909 )
2019
28
Corrigendum to "BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche" [Bone 112 (July 2018) 58-70]. ( 30777729 )
2019
29
"The Cognitive Profile of Children with Non-syndromic Craniosynostosis." ( 30789480 )
2019
30
Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome. ( 30811827 )
2019
31
Nonsyndromic Craniosynostosis. ( 30851746 )
2019
32
Syndromic Craniosynostosis. ( 30851747 )
2019
33
Unilateral Coronal Craniosynostosis in an Apert-Like Patient. ( 30854365 )
2019
34
Absorbable sutures for the achievement of stable osteosynthesis in surgery for craniosynostosis. ( 30855700 )
2019
35
Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation. ( 30858058 )
2019
36
Two novel variants in the TCF12 gene identified in cases with craniosynostosis. ( 30858722 )
2019
37
Calculated Blood Loss and Transfusion Requirements in Primary Open Repair of Craniosynostosis. ( 30881839 )
2019
38
Commentary on "What Is the Functional Difference Between Sagittal With Metopic and Isolated Sagittal Craniosynostosis?" ( 30882579 )
2019
39
In Situ Hinge Technique for the Frontal Bandeau for the Correction of Metopic Craniosynostosis Reduces Operative Time. ( 30896507 )
2019
40
Postoperative Pain Management Following Craniosynostosis Repair: Current Practices and Future Directions. ( 30896510 )
2019
41
Routine Postoperative Admission to the Intensive Care Unit Following Repair of Nonsyndromic Craniosynostosis: Is it Necessary? ( 30921065 )
2019
42
Incidence of Familial Craniosynostosis Among Patients with Nonsyndromic Craniosynostosis. ( 30921071 )
2019
43
Telescoping With Multiple Revolution Cranial Osteotomies in Patients With Simple Craniosynostosis. ( 30921075 )
2019
44
A comparison of endoscopic strip craniectomy and pi craniectomy for treatment of sagittal craniosynostosis. ( 30925476 )
2019
45
An update of ophthalmic management in craniosynostosis. ( 30928366 )
2019
46
Low-Cost Desktop-Based Three-Dimensional-Printed Patient-Specific Craniofacial Models in Surgical Counseling, Consent Taking, and Education of Parent of Craniosynostosis Patients: A Comparison With Conventional Visual Explanation Modalities. ( 30946228 )
2019
47
What Is the Skull Structure Influence of Squamosal Suture Synostosis in Nonsyndromic and Syndromic Crouzon Craniosynostosis? ( 30950948 )
2019
48
Reduced perioperative blood loss in children undergoing craniosynostosis surgery using prolonged tranexamic acid infusion: a randomised trial. ( 30952386 )
2019
49
Can Head Circumference Be Used as a Proxy for Intracranial Volume in Patients With Craniosynostosis? ( 30973835 )
2019
50
A Study to Evaluate Change in Ventricular Volume Obtained by Cranial Distraction for Craniosynostosis. ( 30973836 )
2019

Variations for Craniosynostosis

ClinVar genetic disease variations for Craniosynostosis:

6 (show top 50) (show all 481)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 GRCh37 Chromosome 10, 123276885: 123276885
2 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 GRCh38 Chromosome 10, 121517371: 121517371
3 FGFR2 NM_000141.4(FGFR2): c.1694A> C (p.Glu565Ala) single nucleotide variant Likely pathogenic rs121918506 GRCh37 Chromosome 10, 123256215: 123256215
4 FGFR2 NM_000141.4(FGFR2): c.1694A> C (p.Glu565Ala) single nucleotide variant Likely pathogenic rs121918506 GRCh38 Chromosome 10, 121496701: 121496701
5 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
6 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28931614 GRCh38 Chromosome 4, 1804392: 1804392
7 FGFR3 NM_000142.4(FGFR3): c.1138G> C (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
8 FGFR3 NM_000142.4(FGFR3): c.1138G> C (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh38 Chromosome 4, 1804392: 1804392
9 FGFR3 NM_000142.4(FGFR3): c.1172C> A (p.Ala391Glu) single nucleotide variant Pathogenic rs28931615 GRCh37 Chromosome 4, 1806153: 1806153
10 FGFR3 NM_000142.4(FGFR3): c.1172C> A (p.Ala391Glu) single nucleotide variant Pathogenic rs28931615 GRCh38 Chromosome 4, 1804426: 1804426
11 FGFR3 NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
12 FGFR3 NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
13 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
14 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
15 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
16 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh38 Chromosome 4, 1801844: 1801844
17 FGFR3 NM_000142.4(FGFR3): c.1950G> C (p.Lys650Asn) single nucleotide variant Pathogenic rs28928868 GRCh37 Chromosome 4, 1807891: 1807891
18 FGFR3 NM_000142.4(FGFR3): c.1950G> C (p.Lys650Asn) single nucleotide variant Pathogenic rs28928868 GRCh38 Chromosome 4, 1806164: 1806164
19 FGFR3 NM_000142.4(FGFR3): c.1948A> C (p.Lys650Gln) single nucleotide variant Pathogenic rs78311289 GRCh37 Chromosome 4, 1807889: 1807889
20 FGFR3 NM_000142.4(FGFR3): c.1948A> C (p.Lys650Gln) single nucleotide variant Pathogenic rs78311289 GRCh38 Chromosome 4, 1806162: 1806162
21 FGFR3 NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu) single nucleotide variant Pathogenic rs397515514 GRCh37 Chromosome 4, 1808988: 1808988
22 FGFR3 NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu) single nucleotide variant Pathogenic rs397515514 GRCh38 Chromosome 4, 1807261: 1807261
23 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh37 Chromosome 4, 1807890: 1807890
24 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh38 Chromosome 4, 1806163: 1806163
25 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh37 Chromosome 10, 123353315: 123353315
26 FGFR2 NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro) single nucleotide variant Benign rs3750819 GRCh38 Chromosome 10, 121593801: 121593801
27 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh37 Chromosome 10, 123325158: 123325158
28 FGFR2 NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu) single nucleotide variant Benign/Likely benign rs56226109 GRCh38 Chromosome 10, 121565644: 121565644
29 FGFR3 NM_000142.4(FGFR3): c.130G> A (p.Gly44Ser) single nucleotide variant Benign/Likely benign rs146080119 GRCh37 Chromosome 4, 1801001: 1801001
30 FGFR3 NM_000142.4(FGFR3): c.130G> A (p.Gly44Ser) single nucleotide variant Benign/Likely benign rs146080119 GRCh38 Chromosome 4, 1799274: 1799274
31 FGFR3 NM_000142.4(FGFR3): c.169G> A (p.Val57Met) single nucleotide variant Benign/Likely benign rs61735064 GRCh37 Chromosome 4, 1801040: 1801040
32 FGFR3 NM_000142.4(FGFR3): c.169G> A (p.Val57Met) single nucleotide variant Benign/Likely benign rs61735064 GRCh38 Chromosome 4, 1799313: 1799313
33 FGFR3 NM_000142.4(FGFR3): c.193G> A (p.Gly65Arg) single nucleotide variant Benign/Likely benign rs2305178 GRCh37 Chromosome 4, 1801064: 1801064
34 FGFR3 NM_000142.4(FGFR3): c.193G> A (p.Gly65Arg) single nucleotide variant Benign/Likely benign rs2305178 GRCh38 Chromosome 4, 1799337: 1799337
35 FGFR3 NM_000142.4(FGFR3): c.1150T> C (p.Phe384Leu) single nucleotide variant Benign/Likely benign rs17881656 GRCh37 Chromosome 4, 1806131: 1806131
36 FGFR3 NM_000142.4(FGFR3): c.1150T> C (p.Phe384Leu) single nucleotide variant Benign/Likely benign rs17881656 GRCh38 Chromosome 4, 1804404: 1804404
37 FGFR3 NM_000142.4(FGFR3): c.2149G> A (p.Ala717Thr) single nucleotide variant Likely benign rs17882190 GRCh37 Chromosome 4, 1808391: 1808391
38 FGFR3 NM_000142.4(FGFR3): c.2149G> A (p.Ala717Thr) single nucleotide variant Likely benign rs17882190 GRCh38 Chromosome 4, 1806664: 1806664
39 FGFR3 NM_000142.4(FGFR3): c.1345C> T (p.Pro449Ser) single nucleotide variant Benign/Likely benign rs61735104 GRCh37 Chromosome 4, 1806629: 1806629
40 FGFR3 NM_000142.4(FGFR3): c.1345C> T (p.Pro449Ser) single nucleotide variant Benign/Likely benign rs61735104 GRCh38 Chromosome 4, 1804902: 1804902
41 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh37 Chromosome 10, 123279482: 123279482
42 FGFR2 NM_000141.4(FGFR2): c.939+11T> C single nucleotide variant Likely benign rs145303463 GRCh38 Chromosome 10, 121519968: 121519968
43 FGFR1 NM_023110.2(FGFR1): c.2187-6C> T single nucleotide variant Benign/Likely benign rs4647904 GRCh37 Chromosome 8, 38271547: 38271547
44 FGFR1 NM_023110.2(FGFR1): c.2187-6C> T single nucleotide variant Benign/Likely benign rs4647904 GRCh38 Chromosome 8, 38414029: 38414029
45 FGFR1 NM_023110.2(FGFR1): c.2314C> T (p.Pro772Ser) single nucleotide variant Benign/Likely benign rs56234888 GRCh37 Chromosome 8, 38271301: 38271301
46 FGFR1 NM_023110.2(FGFR1): c.2314C> T (p.Pro772Ser) single nucleotide variant Benign/Likely benign rs56234888 GRCh38 Chromosome 8, 38413783: 38413783
47 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh37 Chromosome 10, 123325034: 123325034
48 FGFR2 NM_000141.4(FGFR2): c.294G> A (p.Thr98=) single nucleotide variant Benign/Likely benign rs1047101 GRCh38 Chromosome 10, 121565520: 121565520
49 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh37 Chromosome 10, 123325169: 123325169
50 FGFR2 NM_000141.4(FGFR2): c.159G> A (p.Ala53=) single nucleotide variant Benign/Likely benign rs1047102 GRCh38 Chromosome 10, 121565655: 121565655

Copy number variations for Craniosynostosis from CNVD:

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

Expression for Craniosynostosis

Search GEO for disease gene expression data for Craniosynostosis.

Pathways for Craniosynostosis

Pathways related to Craniosynostosis according to GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
2
Show member pathways
13.5 EFNB1 FGF10 FGF2 FGF8 FGFR1 FGFR2
3
Show member pathways
13.4 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
4
Show member pathways
13.35 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
5
Show member pathways
13.26 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
6
Show member pathways
13.06 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
7
Show member pathways
13.05 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
8
Show member pathways
12.98 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
9
Show member pathways
12.86 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
10 12.82 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.75 FGF10 FGF2 FGF8 FGFR1 FGFR2 TGFBR2
12
Show member pathways
12.72 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.72 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
14 12.71 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.69 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.69 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
17 12.63 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.53 FGF8 FGFR1 NOG SMAD6 ZNF462
19
Show member pathways
12.47 FGF2 FGFR2 NOG TCF12 TGFBR2
20
Show member pathways
12.42 FGFR1 FGFR2 FGFR3 TGFBR2
21
Show member pathways
12.4 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
22
Show member pathways
12.4 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
23
Show member pathways
12.31 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
24
Show member pathways
12.31 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
25
Show member pathways
12.26 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
26
Show member pathways
12.23 FGF2 FGFR1 FGFR2 FGFR3
27
Show member pathways
12.19 FGFR1 FGFR2 FGFR3 IL11RA
28 12.13 FGFR1 FGFR2 FGFR3 IL11RA
29 12.13 EFNB1 FGF2 FGFR1 FGFR2 FGFR3
30 12.1 FGF2 FGFR1 FGFR2 FGFR3
31
Show member pathways
12.09 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
32
Show member pathways
11.96 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
33 11.85 NOG SMAD6 TGFBR2
34
Show member pathways
11.84 FGF2 FGF8 FGFR1
35
Show member pathways
11.83 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
36 11.73 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
37 11.72 EFNB1 FGF2 FGFR1 FGFR2 FGFR3
38 11.68 FGFR1 FGFR2 FGFR3
39 11.68 FGF2 FGFR1 FGFR3
40
Show member pathways
11.62 FGF2 FGF8 FGFR3
41 11.62 NOG SMAD6 TGFBR2
42 11.55 FGF10 FGF2 FGF8 FGFR1 FGFR3
43 11.53 FGF2 FGFR1 TGFBR2
44 11.51 FGF10 FGF2 FGF8 NOG
45 11.49 FGFR1 FGFR2 FGFR3
46 11.41 FGF2 FGFR1 FGFR2 FGFR3
47 11.39 FGFR1 FGFR2 FGFR3 TGFBR2
48 11.23 FGF2 FGF8 FGFR1 FGFR2 FGFR3 MSX2
49 11.21 FGF2 FGFR1 TGFBR2
50 11.03 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3

GO Terms for Craniosynostosis

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.86 ALX4 EFNB1 ERF FGF10 FGF2 FGFR1
2 receptor complex GO:0043235 9.02 FGFR1 FGFR2 FGFR3 IL11RA TGFBR2

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

(show top 50) (show all 91)
# Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 9.99 FGF10 FGF2 FGFR2 TGFBR2
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.98 FGF10 FGF2 FGF8 FGFR2 FGFR3
3 BMP signaling pathway GO:0030509 9.96 FGF8 MSX2 NOG SMAD6
4 pattern specification process GO:0007389 9.95 ALX4 NOG TGFBR2 ZIC1
5 positive regulation of protein kinase B signaling GO:0051897 9.95 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
6 muscle organ development GO:0007517 9.94 ALX4 TCF12 TWIST1
7 osteoblast differentiation GO:0001649 9.94 MSX2 NOG TWIST1
8 negative regulation of apoptotic process GO:0043066 9.94 FGF8 MSX2 SMAD6 TWIST1
9 positive regulation of epithelial cell proliferation GO:0050679 9.94 FGF10 FGFR2 NOG TWIST1
10 cartilage development GO:0051216 9.93 MSX2 NOG TGFBR2
11 embryonic digit morphogenesis GO:0042733 9.93 ALX4 MSX2 NOG TWIST1
12 outflow tract morphogenesis GO:0003151 9.93 FGF8 MSX2 NOG TGFBR2
13 negative regulation of cell differentiation GO:0045596 9.92 FGF10 NOG TWIST1
14 lung development GO:0030324 9.92 FGF10 FGF8 FGFR1 FGFR2 TGFBR2
15 embryonic limb morphogenesis GO:0030326 9.91 FGFR1 MSX2 TWIST1
16 bone development GO:0060348 9.91 FGF8 FGFR2 TWIST1
17 somatic stem cell population maintenance GO:0035019 9.91 FGF10 FGF2 NOG
18 negative regulation of osteoblast differentiation GO:0045668 9.9 NOG SMAD6 TWIST1
19 positive chemotaxis GO:0050918 9.9 FGF10 FGF2 FGF8
20 positive regulation of cell division GO:0051781 9.9 FGF2 FGF8 FGFR2
21 skeletal system morphogenesis GO:0048705 9.9 ALX4 FGFR1 FGFR2
22 ureteric bud development GO:0001657 9.89 FGFR1 FGFR2 NOG SMAD6
23 positive regulation of cardiac muscle cell proliferation GO:0060045 9.88 FGF2 FGFR1 FGFR2
24 embryonic cranial skeleton morphogenesis GO:0048701 9.88 FGFR2 TGFBR2 TWIST1
25 bone morphogenesis GO:0060349 9.87 FGFR2 FGFR3 MSX2
26 embryonic forelimb morphogenesis GO:0035115 9.87 ALX4 MSX2 TWIST1
27 positive regulation of mesenchymal cell proliferation GO:0002053 9.86 FGFR1 FGFR2 TGFBR2
28 regulation of smoothened signaling pathway GO:0008589 9.85 FGF10 FGFR2 ZIC1
29 digestive tract development GO:0048565 9.85 ALX4 FGF10 FGFR2 TGFBR2
30 limb morphogenesis GO:0035108 9.84 ALX4 FGF10 FGF8
31 odontogenesis GO:0042476 9.84 FGF8 FGFR2 MSX2 TWIST1
32 embryonic pattern specification GO:0009880 9.83 EFNB1 FGF10 FGFR2
33 inner ear morphogenesis GO:0042472 9.83 FGF10 FGF8 FGFR1 FGFR2 ZIC1
34 embryonic hindlimb morphogenesis GO:0035116 9.81 ALX4 FGF8 MSX2 TWIST1
35 organ induction GO:0001759 9.8 FGF10 FGF8 FGFR1
36 wound healing GO:0042060 9.8 FGF10 FGF2 FGFR2 MSX2 NOG TGFBR2
37 membranous septum morphogenesis GO:0003149 9.79 FGFR2 NOG TGFBR2
38 mesenchymal cell differentiation GO:0048762 9.79 FGFR1 FGFR2 NOG
39 embryonic digestive tract morphogenesis GO:0048557 9.77 FGF10 FGFR2
40 endocardial cushion morphogenesis GO:0003203 9.77 NOG TWIST1
41 positive regulation of phospholipase activity GO:0010518 9.77 FGFR1 FGFR2 FGFR3
42 generation of neurons GO:0048699 9.76 FGF8 FGFR1
43 mesonephros development GO:0001823 9.76 FGF10 FGF8
44 positive regulation of phospholipase C activity GO:0010863 9.76 FGF2 FGFR1
45 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.76 FGF8 MSX2
46 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 9.76 NOG SMAD6
47 organ growth GO:0035265 9.76 FGF10 FGFR2
48 limb bud formation GO:0060174 9.76 FGF10 FGFR2
49 lung morphogenesis GO:0060425 9.76 FGF10 FGF8 NOG TGFBR2
50 salivary gland morphogenesis GO:0007435 9.75 FGF10 FGFR1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.71 FGF10 FGF2 FGFR1 FGFR2
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.61 FGFR1 FGFR2 FGFR3
3 HMG box domain binding GO:0071837 9.54 ALX4 TCF12
4 type I transforming growth factor beta receptor binding GO:0034713 9.51 SMAD6 TGFBR2
5 chemoattractant activity GO:0042056 9.5 FGF10 FGF2 FGF8
6 fibroblast growth factor receptor binding GO:0005104 9.43 FGF10 FGF2 FGF8
7 receptor-receptor interaction GO:0090722 9.37 FGF2 FGFR1
8 fibroblast growth factor binding GO:0017134 9.33 FGFR1 FGFR2 FGFR3
9 transmembrane signaling receptor activity GO:0004888 9.19 IL11RA
10 fibroblast growth factor-activated receptor activity GO:0005007 9.13 FGFR1 FGFR2 FGFR3
11 protein tyrosine kinase activity GO:0004713 8.8 FGFR1 FGFR2 FGFR3
12 DNA binding GO:0003677 10.13 ALX4 ERF MSX2 RECQL4 SMAD6 TCF12
13 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.06 ALX4 ERF MSX2 SMAD6 TCF12 TWIST1
14 DNA-binding transcription factor activity GO:0003700 10 ALX4 ERF SMAD6 TCF12 TWIST1 ZIC1

Sources for Craniosynostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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