Aliases & Classifications for Synostosis

MalaCards integrated aliases for Synostosis:

Name: Synostosis 12 55 44 15

Classifications:



External Ids:

Disease Ontology 12 DOID:11971
MeSH 44 D013580
UMLS 73 C0039093

Summaries for Synostosis

Disease Ontology : 12 A dysostosis that results in abnormal fusing of adjacent bones.

MalaCards based summary : Synostosis is related to spondylocarpotarsal synostosis syndrome and radioulnar synostosis. An important gene associated with Synostosis is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are PAK Pathway and Pathways in cancer. The drugs Tranexamic Acid and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and bone marrow, and related phenotypes are growth/size/body region and craniofacial

Wikipedia : 76 Synostosis (plural: synostoses) is fusion of two bones. It can be normal in puberty, fusion of the... more...

Related Diseases for Synostosis

Diseases related to Synostosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 206)
# Related Disease Score Top Affiliating Genes
1 spondylocarpotarsal synostosis syndrome 33.8 FLNB MYH3 NOG
2 radioulnar synostosis 33.5 FGFR1 FGFR2 FGFR3 HOXA11 LRP4 MECOM
3 humeroradial synostosis 33.5 FGFR2 NOG
4 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 33.2 HOXA11 MECOM
5 muenke syndrome 32.7 EFNB1 FGFR1 FGFR2 FGFR3 RAB23 TWIST1
6 synostoses, tarsal, carpal, and digital 32.4 GDF5 NOG
7 saethre-chotzen syndrome 32.0 FGFR1 FGFR2 FGFR3 MSX2 TWIST1
8 apert syndrome 31.8 FGFR1 FGFR2 FGFR3 GLI3 RAB23 TWIST1
9 chromosome 2q35 duplication syndrome 31.7 BHLHA9 FGFR2 FGFR3 GLI3 NOG
10 isolated plagiocephaly 31.3 FGFR3 TCF12 TWIST1
11 isolated brachycephaly 31.3 FGFR3 TCF12 TWIST1
12 plagiocephaly 30.8 FGFR1 FGFR2 FGFR3 TWIST1
13 craniosynostosis 30.7 EFNB1 FGFR1 FGFR2 FGFR3 MSX2 NELL1
14 hemifacial hyperplasia 30.5 EFNB1 FGFR2 FGFR3
15 achondroplasia 30.1 FGFR1 FGFR2 FGFR3
16 crouzon syndrome 29.8 FGFR1 FGFR2 FGFR3 MSX2
17 chiari malformation 29.6 FGFR3 LRP4
18 congenital radioulnar synostosis 12.5
19 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 12.4
20 radioulnar synostosis-microcephaly-scoliosis syndrome 12.3
21 lambdoid synostosis 12.3
22 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 12.3
23 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 12.1
24 humeroradioulnar synostosis 12.1
25 coronal synostosis, syndactyly and jejunal atresia 12.1
26 tibio-fibular synostosis 12.0
27 humero-ulnar synostosis 12.0
28 radioulnar synostosis, radial ray abnormalities, and severe malformations in the male 12.0
29 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 11.9
30 radio-ulnar synostosis type 1 11.9
31 radio-ulnar synostosis type 2 11.9
32 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 11.9
33 humeroradial synostosis with craniofacial anomalies 11.9
34 cleft palate colobomata radial synostosis deafness 11.9
35 congenital heart disease radio ulnar synostosis mental retardation 11.9
36 synostosis of talus and calcaneus short stature 11.9
37 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 11.9
38 radio-ulnar synostosis, unilateral 11.9
39 radio-ulnar synostosis, bilateral 11.9
40 humero-ulnar synostosis, unilateral 11.9
41 humero-ulnar synostosis, bilateral 11.9
42 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 11.8
43 antley-bixler syndrome 11.8
44 mesomelic dysplasia, kantaputra type 11.6
45 jorgenson lenz syndrome 11.4
46 ramer ladda syndrome 11.4
47 cardiospondylocarpofacial syndrome 11.4
48 isolated scaphocephaly 11.2
49 tarsal coalition 11.2
50 craniofrontonasal syndrome 11.2

Graphical network of the top 20 diseases related to Synostosis:



Diseases related to Synostosis

Symptoms & Phenotypes for Synostosis

MGI Mouse Phenotypes related to Synostosis:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.41 EFNB1 FGFR1 FGFR2 FGFR3 FLNB GDF5
2 craniofacial MP:0005382 10.4 EFNB1 FGFR1 FGFR2 FGFR3 FLNB GLI3
3 limbs/digits/tail MP:0005371 10.39 BHLHA9 EFNB1 FGFR1 FGFR2 FGFR3 FLNB
4 mortality/aging MP:0010768 10.39 EFNB1 FGFR1 FGFR2 FGFR3 FLNB GDF5
5 cellular MP:0005384 10.38 BHLHA9 EFNB1 FGFR1 FGFR2 FGFR3 FLNB
6 behavior/neurological MP:0005386 10.32 FGFR1 FGFR2 FGFR3 FLNB GSC LRP4
7 embryo MP:0005380 10.31 EFNB1 FGFR1 FGFR2 GLI3 GSC IFT122
8 cardiovascular system MP:0005385 10.27 FGFR1 FGFR2 FLNB GLI3 GSC IFT122
9 digestive/alimentary MP:0005381 10.25 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 GSC
10 nervous system MP:0003631 10.24 EFNB1 FGFR1 FGFR2 FGFR3 FLNB GLI3
11 endocrine/exocrine gland MP:0005379 10.22 EFNB1 FGFR1 FGFR2 GLI3 GSC HOXA11
12 integument MP:0010771 10.22 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 GSC
13 hearing/vestibular/ear MP:0005377 10.15 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 GSC
14 reproductive system MP:0005389 9.96 EFNB1 FGFR1 FGFR2 FGFR3 GDF5 GLI3
15 muscle MP:0005369 9.95 FGFR1 FGFR2 GSC MECOM MSX2 NOG
16 renal/urinary system MP:0005367 9.87 FGFR1 FGFR2 FGFR3 GLI3 HOXA11 LRP4
17 skeleton MP:0005390 9.86 EFNB1 FGFR1 FGFR2 FGFR3 FLNB GDF5
18 respiratory system MP:0005388 9.85 EFNB1 FGFR2 FGFR3 FLNB GLI3 GSC
19 vision/eye MP:0005391 9.32 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 GSC

Drugs & Therapeutics for Synostosis

Drugs for Synostosis (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
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
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 Analgesics Phase 4,Phase 1,Phase 2
9 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
10 Skullcap Phase 4,Phase 1
11 Central Nervous System Stimulants Phase 4
12 Psychotropic Drugs Phase 4
13 Dopamine Agents Phase 4
14 Dopamine Antagonists Phase 4
15 Central Nervous System Depressants Phase 4,Phase 1,Phase 2
16 Antipsychotic Agents Phase 4
17 Serotonin Agents Phase 4
18 Neurotransmitter Agents Phase 4,Phase 1,Phase 2
19 Serotonin Antagonists Phase 4
20 Neurotransmitter Uptake Inhibitors Phase 4
21 Dopamine Uptake Inhibitors Phase 4
22 Tranquilizing Agents Phase 4
23 Analgesics, Non-Narcotic Phase 4,Phase 1,Phase 2
24 Antirheumatic Agents Phase 4,Phase 1,Phase 2
25 Anti-Inflammatory Agents Phase 4,Phase 1,Phase 2
26
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
27
Aminocaproic Acid Approved, Investigational Phase 2,Phase 1 60-32-2 564
28
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
29
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
30
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6, 75614-87-8 774
31
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
32
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
33
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
34
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
35
Diphenhydramine Approved, Investigational Phase 1, Phase 2 147-24-0, 58-73-1 3100
36
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
37
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
38
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
39
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
40 Calcium, Dietary Phase 1, Phase 2,Phase 2,Not Applicable
41 Antibiotics, Antitubercular Phase 1, Phase 2,Not Applicable
42 Anti-Infective Agents Phase 1, Phase 2,Not Applicable
43 Anti-Bacterial Agents Phase 1, Phase 2,Not Applicable
44 Antitubercular Agents Phase 1, Phase 2,Not Applicable
45 Immunologic Factors Phase 1, Phase 2
46 Hormone Antagonists Phase 1, Phase 2
47 Hormones Phase 1, Phase 2
48 Immunoglobulins Phase 1, Phase 2
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
50 Antineoplastic Agents, Hormonal Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 69)
# 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 NSAIDs for Pain After Ankle Fracture Surgery Withdrawn NCT02281968 Phase 4 Naproxen;Placebo
5 Comparison of a Bone Product to Bone Dust in Ossification of Small Calvarial Defects. Withdrawn NCT01006148 Phase 4
6 Blood Loss and Transfusion Requirement in Infants Treated With Tranexamic Acid Unknown status NCT01094977 Phase 3 Tranexamic Acid;Tranexamic Acid;Saline Placebo
7 Efficacy of Amicar for Children Having Craniofacial Surgery Active, not recruiting NCT02229968 Phase 2 Amicar (ε-aminocaproic acid);normal saline
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 Thymus Transplantation in DiGeorge Syndrome #668 Active, not recruiting NCT00576407 Phase 2
11 Stem Cells and Tibial Fractures Completed NCT00632034 Phase 1
12 Amicar Pharmacokinetics of Children Having Craniofacial Surgery Completed NCT00912119 Phase 1 Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid
13 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
14 Thymus Transplantation With Immunosuppression Active, not recruiting NCT00579709 Phase 1
15 Parathyroid and Thymus Transplantation in DiGeorge #931 Active, not recruiting NCT00566488 Phase 1
16 Mononucleotide Autologous Stem Cells and Demineralized Bone Matrix in the Treatment of Non Union/Delayed Fractures Unknown status NCT01435434 Not Applicable
17 The Effect of Gender on the Consumption of Pain Medication in Infants Undergoing Craniosynostosis Repair or Untethering of Cord in ITU Unknown status NCT01996163
18 Non-Invasive Chromosomal Evaluation of 22q11.2 Unknown status NCT02541058
19 Genetic Modifiers for 22q11.2 Syndrome Unknown status NCT00916955
20 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
21 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
22 Treatment of Displaced Lateral Clavicle Fractures Using a Locking Compression Plate With Lateral Extension Completed NCT02256059
23 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650 Not Applicable
24 Evaluation of Effects of Clavicular Hook Plate on Subacromial Space Completed NCT01205763
25 Trauma Expectation Factor Trauma Outcome Measure Completed NCT01126398
26 Optic Nerve Sheath Diameter in Craniosynostosis Completed NCT03131245
27 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
28 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321 Not Applicable Tranexamic Acid;normal saline
29 Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary Results Completed NCT01672619
30 Osteogenic Profiling of Tissue From Children With Craniosynostosis Completed NCT00773643 Not Applicable
31 Genetic Analysis of Craniosynostosis, Philadelphia Type Completed NCT00367796
32 Child and Infant Learning Project Completed NCT00077831
33 Irradiated Blood Versus Non Irradiated Blood Transfusions in Craniosynostosis Repair Completed NCT02483702 Not Applicable
34 Treatment of Cranial Molding Deformities in Preterm Infants Completed NCT02366936 Not Applicable
35 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Completed NCT02787486
36 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
37 Cognitive Remediation in 22q11DS Completed NCT01781923 Not Applicable
38 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
39 Computerized Cognitive Skills Training for Adolescents With Velocardiofacial Syndrome Completed NCT00917189 Not Applicable
40 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
41 Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study Completed NCT00105274
42 Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877
43 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
44 Transtibial Amputation Outcomes Study Recruiting NCT01821976 Not Applicable
45 Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones Recruiting NCT03025763
46 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
47 Randomized Trial to Assess PO Versus IV Antibiotics Recruiting NCT01714596 Not Applicable
48 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
49 Comparison of Scar Formation in Syndactyly Release Surgery With Full Thickness Skin Graft Versus Skin Graft Substitute Recruiting NCT03107546 Not Applicable
50 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697

Search NIH Clinical Center for Synostosis

Cochrane evidence based reviews: synostosis

Genetic Tests for Synostosis

Anatomical Context for Synostosis

MalaCards organs/tissues related to Synostosis:

41
Bone, Brain, Bone Marrow, Eye, Thyroid, Testes, Heart

Publications for Synostosis

Articles related to Synostosis:

(show top 50) (show all 934)
# Title Authors Year
1
Minimally Invasive, Spring-Assisted Correction of Sagittal Suture Synostosis: Technique, Outcome, and Complications in 83 Cases. ( 29036024 )
2018
2
Defining and Correcting Asymmetry in Isolated Unilateral Frontosphenoidal Synostosis: Differences in Orbital Shape, Facial Scoliosis, and Skullbase Twist Compared to Unilateral Coronal Synostosis. ( 29065043 )
2018
3
Surgical Treatment of Unicoronal Synostosis: A Simplified Technique without Orbital Osteotomy. ( 29261518 )
2018
4
Adult Chiari Type 1 Malformation with Holocord Syringomyelia Associated with Sagittal Synostosis. ( 29354335 )
2018
5
Virtual modeling, stereolithography, and intraoperative CT guidance for the optimization of sagittal synostosis reconstruction: a technical note. ( 29460063 )
2018
6
A Review Of Referral Patterns For Sagittal Synostosis In Ireland: 2008-2013. ( 29869852 )
2018
7
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. ( 29805041 )
2018
8
Isolated Intraorbital Frontosphenoidal Synostosis. ( 29068968 )
2018
9
Discussion: Minimally Invasive, Spring-Assisted Correction of Sagittal Suture Synostosis: Technique, Outcome, and Complications in 83 Cases. ( 29369994 )
2018
10
A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia. ( 29200407 )
2018
11
Editorial. Endoscopic synostosis surgery: case closed. Or open? Or in between? ( 29979134 )
2018
12
The reverse SauvAc-Kapandji procedure for the treatment of (posttraumatic) proximal radioulnar synostosis. ( 29520493 )
2018
13
Subsegmental Osteotomy Technique With Distraction Osteogenesis for Natural Frontal Contouring in Metopic Synostosis. ( 29649371 )
2018
14
Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB. ( 29566257 )
2018
15
Isolated Post-Shunt Metopic Synostosis and Neural Tube Defects. ( 29561489 )
2018
16
Cognitive, behavioral and psychological functioning in children with metopic synostosis: a meta-analysis examining the impact of surgical status. ( 29482450 )
2018
17
Normalization of Speech Processing After Whole-Vault Cranioplasty in Sagittal Synostosis. ( 29621073 )
2018
18
Length of synostosis and segmented intracranial volume correlate with age in patients with non-syndromic sagittal synostosis. ( 29067505 )
2018
19
Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease. ( 29519864 )
2018
20
Spring-Mediated Cranioplasty in Sagittal Synostosis: Does Age at Placement Affect Expansion? ( 29381616 )
2018
21
Temporal Progression of Craniofacial Dysmorphology in Unilateral Coronal Synostosis: A Mechanistic Hypothesis. ( 29762326 )
2018
22
Non-syndromic bilateral ulnar aplasia with humero-radial synostosis and oligo-ectro-dactyly. ( 29427337 )
2018
23
Three-dimensional analysis of deformities of the radius and ulna in congenital proximal radioulnar synostosis. ( 29402171 )
2018
24
Delayed Chronic Subdural Hematoma after Total Cranial Vault Reconstruction for Sagittal Synostosis. ( 29672313 )
2018
25
Single Suture Synostosis and Isolated Cleft Palate in Non-Apert Syndrome Patients. ( 30550448 )
2018
26
Bilateral congenital dislocation of the patella associated with synostosis of proximal tibiofibular and proximal radioulnar joints: A case report. ( 30016613 )
2018
27
Long-term results after simple rotational osteotomy of the radius shaft for congenital radioulnar synostosis. ( 30016690 )
2018
28
Variation in the management of isolated craniosynostosis: a survey of the Synostosis Research Group. ( 30215587 )
2018
29
Posttraumatic Proximal Radioulnar Synostosis after Closed Reduction for a Radial Neck and Olecranon Fracture. ( 29805828 )
2018
30
A novel mutation in the MECOM gene causing radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT-2) in an infant. ( 30536840 )
2018
31
High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X-Linked Hypophosphatemic Rickets (XLHR). ( 30352126 )
2018
32
A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. ( 30228365 )
2018
33
Spondylocarpotarsal synostosis syndrome: "Bat wings" spinal fusions and "ladybug" carpal coalitions. ( 30245165 )
2018
34
Distal tibiofibular synostosis following non-operative treatment of ankle fractures. ( 29315039 )
2018
35
Long-Term Results in Isolated Metopic Synostosis: The Oxford Experience over 22 Years. ( 30020237 )
2018
36
A scanographic study of asymmetry of the frontal process of zygoma in unilateral coronal synostosis. ( 30041992 )
2018
37
A novel AXIN2 gene mutation in sagittal synostosis. ( 30088857 )
2018
38
Synostosis of the first and second ribs in six horses. ( 30110211 )
2018
39
Discussion: Long-Term Results in Isolated Metopic Synostosis: The Oxford Experience over 22 Years. ( 30252817 )
2018
40
A New Technique for Sagittal Synostosis: A Plurality of Small Incisions Minimally Invasive Technique Used on Infants and Young Patients. ( 30277944 )
2018
41
Bilambdoid and sagittal synostosis: Report of 39 cases. ( 30386676 )
2018
42
Regression of cephalic index following endoscopic repair of sagittal synostosis. ( 30497205 )
2018
43
Investigating the cause of late deformity following fronto-orbital remodelling for metopic synostosis using 3D CT imaging. ( 30527632 )
2018
44
Comparing Cephalic Index and Midsagittal Vector Analysis in Assessing Morphology in Sagittal Synostosis: A CT-Based Morphometric Analysis. ( 30537860 )
2018
45
Proximal tibiofibular synostosis. ( 29125821 )
2017
46
Effect of Preoperative Molding Helmet in Patients With Sagittal Synostosis. ( 28549045 )
2017
47
Pathological fracture in a patient with an untreated congenital metacarpal synostosis. ( 28193122 )
2017
48
Comparing Outcomes and Cost of 3 Surgical Treatments for Sagittal Synostosis: A Retrospective Study Including Procedure-Related Cost Analysis. ( 28449032 )
2017
49
Squamous Suture Synostosis: A Review With Emphasis on Cranial Morphology and Involvement of Other Cranial Sutures. ( 27831981 )
2017
50
Spondylocarpotarsal synostosis syndrome. A rare case of short stature and congenital scoliosis. ( 29263747 )
2017

Variations for Synostosis

Expression for Synostosis

Search GEO for disease gene expression data for Synostosis.

Pathways for Synostosis

GO Terms for Synostosis

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

(show top 50) (show all 61)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.99 EFNB1 FGFR2 FGFR3 GDF5
2 regulation of gene expression GO:0010468 9.99 FGFR1 GLI3 HOXA11 NELL1
3 multicellular organism development GO:0007275 9.97 BHLHA9 EFNB1 FLNB GSC HOXA11 IFT122
4 peptidyl-tyrosine phosphorylation GO:0018108 9.95 EFNB1 FGFR1 FGFR2 FGFR3
5 skeletal system development GO:0001501 9.94 FGFR1 FGFR3 HOXA11 NOG
6 negative regulation of signal transduction GO:0009968 9.9 FGFR1 FGFR2 FGFR3
7 phosphatidylinositol phosphorylation GO:0046854 9.9 FGFR1 FGFR2 FGFR3
8 anterior/posterior pattern specification GO:0009952 9.9 GLI3 HOXA11 MSX2
9 osteoblast differentiation GO:0001649 9.89 MSX2 NOG TWIST1
10 lung development GO:0030324 9.89 FGFR1 FGFR2 GLI3
11 positive regulation of neuron differentiation GO:0045666 9.89 FGFR1 GDF5 TCF12
12 in utero embryonic development GO:0001701 9.89 FGFR1 FGFR2 GLI3 NOG TWIST1
13 neural tube closure GO:0001843 9.88 IFT122 NOG TWIST1
14 fibroblast growth factor receptor signaling pathway GO:0008543 9.88 FGFR1 FGFR2 FGFR3
15 muscle organ development GO:0007517 9.88 FLNB MYH3 TCF12 TWIST1
16 cartilage development GO:0051216 9.87 GDF5 MSX2 NOG
17 wound healing GO:0042060 9.86 FGFR2 GLI3 MSX2 NOG
18 negative regulation of cell differentiation GO:0045596 9.85 GLI3 NOG TWIST1
19 negative regulation of epithelial cell proliferation GO:0050680 9.85 FGFR2 GDF5 IFT122
20 positive regulation of epithelial cell proliferation GO:0050679 9.85 FGFR2 NOG TWIST1
21 positive regulation of osteoblast differentiation GO:0045669 9.85 GLI3 MSX2 NELL1
22 bone development GO:0060348 9.84 FGFR2 HOXA11 TWIST1
23 embryonic skeletal system morphogenesis GO:0048704 9.83 GLI3 GSC TWIST1
24 BMP signaling pathway GO:0030509 9.83 GDF5 LRP4 MSX2 NOG
25 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.82 FGFR1 FGFR2 FGFR3
26 ureteric bud development GO:0001657 9.81 FGFR1 FGFR2 NOG
27 chondrocyte differentiation GO:0002062 9.79 FGFR1 FGFR3 GDF5
28 bone morphogenesis GO:0060349 9.77 FGFR2 FGFR3 MSX2
29 odontogenesis GO:0042476 9.77 FGFR2 MSX2 TWIST1
30 signal transduction involved in regulation of gene expression GO:0023019 9.73 GSC MSX2
31 limb development GO:0060173 9.73 GLI3 IFT122 LRP4 NOG
32 embryonic digestive tract morphogenesis GO:0048557 9.72 FGFR2 GLI3
33 endocardial cushion morphogenesis GO:0003203 9.72 NOG TWIST1
34 ear development GO:0043583 9.72 FGFR1 GSC
35 proximal/distal pattern formation GO:0009954 9.72 GLI3 HOXA11 LRP4
36 dorsal/ventral pattern formation GO:0009953 9.72 GLI3 HOXA11 IFT122 LRP4 NOG
37 branching involved in salivary gland morphogenesis GO:0060445 9.71 FGFR1 FGFR2
38 hindlimb morphogenesis GO:0035137 9.71 GDF5 TWIST1
39 positive regulation of chondrocyte differentiation GO:0032332 9.71 GDF5 GLI3 HOXA11
40 organ induction GO:0001759 9.7 FGFR1 HOXA11
41 embryonic skeletal joint morphogenesis GO:0060272 9.7 HOXA11 NOG
42 membranous septum morphogenesis GO:0003149 9.7 FGFR2 NOG
43 middle ear morphogenesis GO:0042474 9.69 FGFR1 GSC NOG
44 outer ear morphogenesis GO:0042473 9.68 FGFR1 TWIST1
45 lung-associated mesenchyme development GO:0060484 9.68 FGFR1 FGFR2
46 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.67 GLI3 IFT122
47 embryonic forelimb morphogenesis GO:0035115 9.67 HOXA11 IFT122 MSX2 TWIST1
48 BMP signaling pathway involved in heart development GO:0061312 9.66 MSX2 NOG
49 cranial suture morphogenesis GO:0060363 9.65 MSX2 TWIST1
50 mesenchymal cell differentiation GO:0048762 9.65 FGFR1 FGFR2 NOG

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.97 BHLHA9 GLI3 GSC HOXA11 MECOM MSX2
2 protein homodimerization activity GO:0042803 9.95 FGFR1 FGFR2 LRP4 NOG TCF12 TWIST1
3 nucleotide binding GO:0000166 9.8 FGFR1 FGFR2 FGFR3 MYH3 RAB23
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.67 FGFR1 FGFR2 FGFR3
5 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.63 FGFR1 FGFR2 FGFR3
6 protein tyrosine kinase activity GO:0004713 9.56 EFNB1 FGFR1 FGFR2 FGFR3
7 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.5 FGFR1 FGFR2 FGFR3
8 1-phosphatidylinositol-3-kinase activity GO:0016303 9.33 FGFR1 FGFR2 FGFR3
9 fibroblast growth factor binding GO:0017134 9.13 FGFR1 FGFR2 FGFR3
10 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3
11 protein binding GO:0005515 10.36 BHLHA9 EFNB1 FGFR1 FGFR2 FGFR3 FLNB

Sources for Synostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....