Aliases & Classifications for Synostosis

MalaCards integrated aliases for Synostosis:

Name: Synostosis 12 54 43 15

Classifications:



External Ids:

Disease Ontology 12 DOID:11971
MeSH 43 D013580
UMLS 71 C0039093

Summaries for Synostosis

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

MalaCards based summary : Synostosis is related to radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome and humeroradial synostosis. An important gene associated with Synostosis is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Pathways in cancer and MAPK signaling pathway. The drugs Calcium, Dietary and Calcium have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and bone marrow, and related phenotypes are cellular and craniofacial

Wikipedia : 74 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 382)
# Related Disease Score Top Affiliating Genes
1 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 34.7 MECOM HOXA11
2 humeroradial synostosis 34.7 POR NOG FGFR2
3 radioulnar synostosis 34.2 TWIST1 SMAD6 RECQL4 POR MECOM HOXA11
4 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 33.8 POR FGFR2
5 antley-bixler syndrome 33.7 POR FGFR3 FGFR2 FGFR1
6 synostoses, tarsal, carpal, and digital 33.7 NOG GDF5
7 muenke syndrome 33.4 TWIST1 RAB23 MSX2 FGFR3 FGFR2 FGFR1
8 isolated plagiocephaly 33.0 TWIST1 FGFR3
9 carpenter syndrome 1 33.0 RAB23 GLI3 FGFR3 FGFR2
10 isolated brachycephaly 32.9 TWIST1 FGFR3
11 saethre-chotzen syndrome 32.6 TWIST1 RECQL4 RAB23 MSX2 FGFR3 FGFR2
12 apert syndrome 32.5 TWIST1 RAB23 MSX2 GLI3 FGFR3 FGFR2
13 cytochrome p450 oxidoreductase deficiency 32.4 POR FGFR2
14 pfeiffer syndrome 32.3 TWIST1 NOG MSX2 GLI3 FGFR3 FGFR2
15 plagiocephaly 31.9 TWIST1 FGFR3 FGFR2 FGFR1
16 chromosome 2q35 duplication syndrome 31.8 TWIST1 RAB23 NOG MSX2 GLI3 GDF5
17 craniosynostosis 31.8 TWIST1 SMAD6 RECQL4 POR NOG NELL1
18 hypertelorism 31.3 TWIST1 FGFR2 EFNB1
19 ankylosis 31.1 NOG GDF5 FGFR2 FGFR1
20 hydrocephalus 31.1 TWIST1 FGFR3 FGFR2 FGFR1
21 fgfr craniosynostosis syndromes 30.9 FGFR3 FGFR2 FGFR1
22 crouzon syndrome 30.9 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 EFNB1
23 syndromic craniosynostosis 30.8 TWIST1 MSX2 IFT122 FGFR3 FGFR2 FGFR1
24 cleft palate, isolated 30.7 TWIST1 NOG MSX2 GLI3 FLNB FGFR3
25 achondroplasia 30.6 MSX2 FGFR3 FGFR2 FGFR1
26 brachydactyly 30.4 RAB23 NOG MSX2 IFT122 GDF5 FGFR3
27 parietal foramina 30.3 TWIST1 RECQL4 NELL1 MSX2 FGFR3
28 bone disease 30.1 NOG GDF5 FLNB FGFR3 FGFR2 FGFR1
29 brachydactyly, type b2 30.1 NOG GDF5
30 tarsal-carpal coalition syndrome 30.0 NOG GDF5
31 odontochondrodysplasia 29.9 POR MSX2 GDF5 FLNB FGFR3 FGFR2
32 dysostosis 29.9 TWIST1 RECQL4 NOG NELL1 MSX2 GLI3
33 spondylocarpotarsal synostosis syndrome 12.7
34 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 12.6
35 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 12.6
36 radioulnar synostosis, nonsyndromic 12.5
37 radioulnar synostosis-microcephaly-scoliosis syndrome 12.5
38 lambdoid synostosis 12.5
39 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 12.3
40 humeroradioulnar synostosis 12.3
41 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 12.2
42 coronal synostosis, syndactyly and jejunal atresia 12.2
43 tibio-fibular synostosis 12.2
44 humero-ulnar synostosis 12.2
45 humeroradial synostosis with craniofacial anomalies 12.2
46 radioulnar synostosis, radial ray abnormalities, and severe malformations in the male 12.2
47 radio-ulnar synostosis type 1 12.1
48 radio-ulnar synostosis type 2 12.1
49 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 12.1
50 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 12.1

Graphical network of the top 20 diseases related to Synostosis:



Diseases related to Synostosis

Symptoms & Phenotypes for Synostosis

MGI Mouse Phenotypes related to Synostosis:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.41 BHLHA9 EFNB1 FGFR1 FGFR2 FGFR3 FLNB
2 craniofacial MP:0005382 10.4 EFNB1 FGFR1 FGFR2 FGFR3 FLNB GLI3
3 growth/size/body region MP:0005378 10.39 EFNB1 FGFR1 FGFR2 FGFR3 FLNB GDF5
4 limbs/digits/tail MP:0005371 10.39 BHLHA9 EFNB1 FGFR1 FGFR2 FGFR3 FLNB
5 mortality/aging MP:0010768 10.39 EFNB1 FGFR1 FGFR2 FGFR3 FLNB GDF5
6 embryo MP:0005380 10.35 EFNB1 FGFR1 FGFR2 GDF5 GLI3 IFT122
7 cardiovascular system MP:0005385 10.32 FGFR1 FGFR2 FLNB GLI3 IFT122 MECOM
8 digestive/alimentary MP:0005381 10.25 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 IFT122
9 nervous system MP:0003631 10.21 BHLHA9 EFNB1 FGFR1 FGFR2 FGFR3 FLNB
10 endocrine/exocrine gland MP:0005379 10.18 EFNB1 FGFR1 FGFR2 GLI3 HOXA11 MSX2
11 integument MP:0010771 10.18 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 MECOM
12 hearing/vestibular/ear MP:0005377 10.1 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 MECOM
13 muscle MP:0005369 10.01 FGFR1 FGFR2 MECOM MSX2 NOG POR
14 reproductive system MP:0005389 9.96 EFNB1 FGFR1 FGFR2 FGFR3 GDF5 GLI3
15 renal/urinary system MP:0005367 9.87 FGFR1 FGFR2 FGFR3 GLI3 HOXA11 NOG
16 skeleton MP:0005390 9.83 EFNB1 FGFR1 FGFR2 FGFR3 FLNB GDF5
17 respiratory system MP:0005388 9.81 EFNB1 FGFR2 FGFR3 FLNB GLI3 MECOM
18 vision/eye MP:0005391 9.36 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 IFT122

Drugs & Therapeutics for Synostosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Calcium, Dietary
2
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650
2 The Affect of Radiated Versus Non-Irradiated Blood on Extracellular Potassium Levels in Infants Undergoing Craniosynostosis Repair Completed NCT02483702
3 Osteogenic Profiling of Tissue From Children With Craniosynostosis Completed NCT00773643
4 Clinical Feasibility Study of Preoperative Surgical Planning for Craniosynostosis Procedures Recruiting NCT03812159
5 Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study Recruiting NCT00027274
6 Distal Radius Fracture: Comparison Between Three and Six Weeks of Percutaneous Fixation Recruiting NCT03311633
7 Craniosynostosis Network Recruiting NCT03025763
8 Transtibial Amputation Outcomes Study (TAOS): Comparing Transtibial Amputation With (Ertl) and Without a Tibia-fibula Synostosis Procedure Active, not recruiting NCT01821976
9 Endoscopic Treatment for Isolated, Single Suture Craniosynostosis Withdrawn NCT00769847

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:

40
Bone, Brain, Bone Marrow, Eye, Heart, Testes, Spinal Cord

Publications for Synostosis

Articles related to Synostosis:

(show top 50) (show all 2810)
# Title Authors PMID Year
1
Medical treatment of craniosynostosis: recombinant Noggin inhibits coronal suture closure in the rat craniosynostosis model. 61 54
19627528 2009
2
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. 54 61
19483581 2009
3
P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes. 54 61
18440889 2008
4
Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism. 54 61
18449926 2008
5
The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis. 54 61
18317141 2008
6
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. 54 61
17668388 2007
7
Syndromic craniosynostosis: from history to hydrogen bonds. 54 61
17552943 2007
8
Strabismus in unicoronal synostosis: ipsilateral or contralateral? 61 54
17538304 2007
9
Intracranial volume measurement of sagittal craniosynostosis. 54 61
17289391 2007
10
HOXA11 mutation in amegakaryocytic thrombocytopenia with radio-ulnar synostosis syndrome inhibits megakaryocytic differentiation in vitro. 54 61
16765069 2006
11
Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. 54 61
16540516 2006
12
Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. 54 61
16526918 2006
13
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. 61 54
16251895 2006
14
Expression of FGFR-2 and FGFR-3 in the normal human fetal orbit. 54 61
16299148 2005
15
Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. 61 54
15241680 2004
16
Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis). 61 54
15253176 2004
17
[Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)]. 54 61
12764678 2003
18
Clinical and genetic aspects of trigonocephaly: a study of 25 cases. 61 54
12567409 2003
19
Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report. 61 54
11743367 2001
20
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. 54 61
11846737 2001
21
Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3. 54 61
11424131 2001
22
Differential expression of fibroblast growth factor receptors in human digital development suggests common pathogenesis in complex acrosyndactyly and craniosynostosis. 54 61
11335797 2001
23
Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. 61 54
11101832 2000
24
Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome. 61 54
10761652 2000
25
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 61 54
9585583 1998
26
Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. 61 54
9580776 1998
27
Osteogenesis imperfecta type 1 with an incidental finding of bilateral radioulnar synostosis. 61
32282353 2020
28
Visualization of skull remodeling and re-ossification after reconstructive surgery and mosaic-like cranioplasty in sagittal synostosis and deformational brachycephaly1. 61
32016574 2020
29
ZMAT2, a newly-identified potential disease-causing gene in congenital radioulnar synostosis, modulates BMP signaling. 61
32247068 2020
30
The Role of Sphenobasilar Synchondrosis in Disease and Health. 61
32451540 2020
31
Saethre-Chotzen Syndrome: A Report of 7 Patients and Review of the Literature. 61
32487807 2020
32
Cervical Rib Synostosis to the First Rib: A Rare Anatomic Variation. 61
32169617 2020
33
Fronto-orbital advancement and reconstruction using reverse frontal bone graft without the use of orbital bar: a technical note. 61
32219525 2020
34
Bilateral Squamosal Suture Craniosynostosis Presenting with Abducens Nerve Palsy and Severe Papilledema. 61
32217173 2020
35
A systematic quantitative morpho-volumetric analysis in infants with sagittal craniosynostosis and relationship with the severity of scaphocephalic deformity. 61
32067161 2020
36
Orbito-facial dysmorphology in patients with different degrees of trigonocephaly severity: quantitative morpho-volumetric analysis in infants with non-syndromic metopic craniosynostosis. 61
31845029 2020
37
Modeling Medical Education: The Impact of Three-Dimensional Printed Models on Medical Student Education in Plastic Surgery. 61
32433138 2020
38
Craniometric and Volumetric Analyses of Cranial Base and Cranial Vault Differences in Patients With Nonsyndromic Single-Suture Sagittal Craniosynostosis. 61
32503095 2020
39
What Is the Skull Structure Influence of Squamosal Suture Synostosis in Nonsyndromic and Syndromic Crouzon Craniosynostosis?: Erratum. 61
32503099 2020
40
Isolated Frontosphenoidal Suture Craniosynostosis: Treatment Approaches and Literature Review for a Unique Condition. 61
32209929 2020
41
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation. 61
32499606 2020
42
Upward vectors for osteogenic distraction treatment in secondary chronic intracranial hypertension in children undergoing scaphocephaly surgery: 2 cases reported. 61
31925509 2020
43
Sonographic indicators of isolated fetal sagittal craniosynostosis during pregnancy. 61
32530572 2020
44
Cranial Fossa Development in Differing Subtypes of Crouzon Syndrome. 61
32049910 2020
45
Classification of Subtypes of Crouzon Syndrome Based on the Type of Vault Suture Synostosis. 61
32068731 2020
46
Bilateral Cephalohematoma With Sagittal Synostosis and Scaphocephaly. 61
32049914 2020
47
Talus Secundarius: Case Series. 61
31989844 2020
48
A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report. 61
32370745 2020
49
Craniofacial Sutural Pattern and Surgical Management in Patients With Different Degrees of Trigonocephaly Severity. 61
32176157 2020
50
[Formula: see text] Sustained attention and vigilance of children treated for sagittal and metopic craniosynostosis. 61
31661355 2020

Variations for Synostosis

Expression for Synostosis

Search GEO for disease gene expression data for Synostosis.

Pathways for Synostosis

GO Terms for Synostosis

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.8 TWIST1 SMAD6 RECQL4 NELL1 MSX2 MECOM
2 cytoplasm GO:0005737 9.5 SMAD6 RECQL4 RAB23 POR NELL1 MYH3

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

(show top 50) (show all 57)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.19 TWIST1 NOG NELL1 MECOM FLNB EFNB1
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.16 TWIST1 NOG MSX2 GLI3 FGFR2 FGFR1
3 negative regulation of apoptotic process GO:0043066 10.1 TWIST1 SMAD6 POR MSX2 GLI3
4 regulation of gene expression GO:0010468 10.02 NELL1 MECOM HOXA11 GLI3 FGFR1
5 cell-cell signaling GO:0007267 10 GDF5 FGFR3 FGFR2 EFNB1
6 skeletal system development GO:0001501 9.91 NOG HOXA11 FGFR3 FGFR1
7 in utero embryonic development GO:0001701 9.91 TWIST1 NOG GLI3 FGFR2 FGFR1
8 anterior/posterior pattern specification GO:0009952 9.9 MSX2 HOXA11 GLI3
9 osteoblast differentiation GO:0001649 9.89 TWIST1 NOG MSX2
10 muscle organ development GO:0007517 9.89 TWIST1 MYH3 FLNB
11 lung development GO:0030324 9.88 GLI3 FGFR2 FGFR1
12 neural tube closure GO:0001843 9.87 TWIST1 NOG IFT122
13 fibroblast growth factor receptor signaling pathway GO:0008543 9.86 FGFR3 FGFR2 FGFR1
14 cartilage development GO:0051216 9.86 NOG MSX2 GDF5
15 positive regulation of kinase activity GO:0033674 9.85 FGFR3 FGFR2 FGFR1
16 negative regulation of epithelial cell proliferation GO:0050680 9.84 IFT122 GDF5 FGFR2
17 positive regulation of epithelial cell proliferation GO:0050679 9.83 TWIST1 NOG FGFR2
18 positive regulation of osteoblast differentiation GO:0045669 9.83 NELL1 MSX2 GLI3
19 wound healing GO:0042060 9.83 NOG MSX2 GLI3 FGFR2
20 bone development GO:0060348 9.82 TWIST1 HOXA11 FGFR2
21 negative regulation of cell differentiation GO:0045596 9.82 TWIST1 NOG GLI3
22 negative regulation of osteoblast differentiation GO:0045668 9.8 TWIST1 SMAD6 NOG
23 BMP signaling pathway GO:0030509 9.8 SMAD6 NOG MSX2 GDF5
24 limb development GO:0060173 9.78 NOG IFT122 GLI3
25 epithelial to mesenchymal transition GO:0001837 9.77 NOG FGFR2 FGFR1
26 odontogenesis GO:0042476 9.75 TWIST1 MSX2 FGFR2
27 bone morphogenesis GO:0060349 9.74 MSX2 FGFR3 FGFR2
28 anatomical structure formation involved in morphogenesis GO:0048646 9.72 NOG GLI3
29 embryonic digestive tract morphogenesis GO:0048557 9.72 GLI3 FGFR2
30 endocardial cushion morphogenesis GO:0003203 9.72 TWIST1 NOG
31 outflow tract septum morphogenesis GO:0003148 9.72 SMAD6 MSX2 FGFR2
32 dorsal/ventral pattern formation GO:0009953 9.71 NOG IFT122 HOXA11 GLI3
33 branching involved in salivary gland morphogenesis GO:0060445 9.7 FGFR2 FGFR1
34 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 9.7 SMAD6 NOG
35 hindlimb morphogenesis GO:0035137 9.69 TWIST1 GDF5
36 organ induction GO:0001759 9.69 HOXA11 FGFR1
37 embryonic skeletal joint morphogenesis GO:0060272 9.68 NOG HOXA11
38 membranous septum morphogenesis GO:0003149 9.68 NOG FGFR2
39 lung-associated mesenchyme development GO:0060484 9.67 FGFR2 FGFR1
40 outer ear morphogenesis GO:0042473 9.67 TWIST1 FGFR1
41 ureteric bud development GO:0001657 9.67 SMAD6 NOG FGFR2 FGFR1
42 mitral valve morphogenesis GO:0003183 9.66 TWIST1 SMAD6
43 mesenchymal cell differentiation GO:0048762 9.65 NOG FGFR2 FGFR1
44 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.64 IFT122 GLI3
45 BMP signaling pathway involved in heart development GO:0061312 9.63 NOG MSX2
46 cranial suture morphogenesis GO:0060363 9.63 TWIST1 MSX2
47 positive regulation of phospholipase activity GO:0010518 9.63 FGFR3 FGFR2 FGFR1
48 embryonic digit morphogenesis GO:0042733 9.63 TWIST1 NOG MSX2 IFT122 HOXA11 GLI3
49 embryonic forelimb morphogenesis GO:0035115 9.62 TWIST1 MSX2 IFT122 HOXA11
50 endochondral bone growth GO:0003416 9.61 MSX2 FGFR3 FGFR2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.13 TWIST1 SMAD6 RECQL4 RAB23 POR NOG
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.8 TWIST1 SMAD6 MSX2 HOXA11 GLI3 BHLHA9
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 FGFR3 FGFR2 FGFR1
4 fibroblast growth factor binding GO:0017134 9.13 FGFR3 FGFR2 FGFR1
5 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR3 FGFR2 FGFR1

Sources for Synostosis

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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