Aliases & Classifications for Synostosis

MalaCards integrated aliases for Synostosis:

Name: Synostosis 12 54 44 15

Classifications:



External Ids:

Disease Ontology 12 DOID:11971
MeSH 44 D013580
UMLS 70 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 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 NF-KappaB Family Pathway. Affiliated tissues include bone, eye and bone marrow, and related phenotypes are cellular and craniofacial

Wikipedia : 73 Synostosis (plural: synostoses) is fusion of two or more bones. It can be normal in puberty, fusion of... more...

Related Diseases for Synostosis

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

(show top 50) (show all 399)
# Related Disease Score Top Affiliating Genes
1 spondylocarpotarsal synostosis syndrome 33.0 MYH3 MSX2 FLNB
2 humeroradial synostosis 32.8 NOG FGFR2
3 radioulnar synostosis 32.7 TWIST1 SMAD6 RECQL4 MECOM HOXA11 FGFR3
4 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 32.6 MECOM HOXA11
5 antley-bixler syndrome 32.6 FGFR3 FGFR2 FGFR1
6 synostoses, tarsal, carpal, and digital 32.6 NOG GDF5
7 muenke syndrome 32.3 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 EFNB1
8 cardiospondylocarpofacial syndrome 32.2 MAP3K7 FLNB
9 carpenter syndrome 1 31.9 RAB23 GLI3 FGFR3 FGFR2
10 saethre-chotzen syndrome 31.8 TWIST1 RECQL4 MSX2 FGFR3 FGFR2 FGFR1
11 apert syndrome 31.6 TWIST1 RAB23 MSX2 GLI3 FGFR3 FGFR2
12 plagiocephaly 31.5 TWIST1 FGFR3 FGFR2 FGFR1
13 craniosynostosis 31.4 TWIST1 SMAD6 RECQL4 NOG NELL1 MSX2
14 pfeiffer syndrome 31.3 TWIST1 NOG MSX2 GLI3 FGFR3 FGFR2
15 chromosome 2q35 duplication syndrome 31.1 TWIST1 RAB23 NOG MSX2 GLI3 GDF5
16 craniosynostosis 1 30.9 TWIST1 FGFR3 FGFR2
17 ankylosis 30.9 NOG GDF5 FGFR2 FGFR1
18 hypertelorism 30.9 TWIST1 FGFR2 EFNB1
19 syndromic craniosynostosis 30.7 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
20 crouzon syndrome 30.7 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 EFNB1
21 fgfr craniosynostosis syndromes 30.5 FGFR3 FGFR2 FGFR1
22 cleft palate, isolated 30.5 TWIST1 TBX22 NOG MSX2 GLI3 FLNB
23 achondroplasia 30.3 MSX2 FGFR3 FGFR2 FGFR1
24 brachydactyly 30.2 RAB23 NOG MSX2 MAP3K7 GDF5 FGFR3
25 dysostosis 30.2 TWIST1 NOG MSX2 GLI3 GDF5 FGFR3
26 parietal foramina 30.2 TWIST1 RECQL4 NELL1 MSX2 FGFR3
27 brachydactyly, type b2 30.1 NOG GDF5 BHLHA9
28 tarsal-carpal coalition syndrome 29.9 NOG GDF5
29 bone disease 29.9 NOG GDF5 FLNB FGFR3 FGFR2 FGFR1
30 ear malformation 29.8 MAP3K7 FLNB
31 odontochondrodysplasia 29.8 MSX2 GDF5 FLNB FGFR3 FGFR2 FGFR1
32 renal hypodysplasia/aplasia 1 29.6 HOXA11 FGFR2 FGFR1
33 radioulnar synostosis, nonsyndromic 11.5
34 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 11.5
35 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 11.4
36 lambdoid synostosis 11.3
37 radioulnar synostosis-microcephaly-scoliosis syndrome 11.3
38 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 11.3
39 mesomelic dysplasia, kantaputra type 11.3
40 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 11.2
41 liebenberg syndrome 11.2
42 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 11.2
43 humeroradioulnar synostosis 11.1
44 craniofacial dyssynostosis with short stature 11.1
45 jorgenson lenz syndrome 11.1
46 abruzzo-erickson syndrome 11.0
47 coronal synostosis, syndactyly and jejunal atresia 11.0
48 radioulnar synostosis-developmental delay-hypotonia syndrome 11.0
49 cenani-lenz syndactyly syndrome 11.0
50 anophthalmos with limb anomalies 11.0

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 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.36 BHLHA9 EFNB1 FGFR1 FGFR2 FGFR3 FLNB
2 craniofacial MP:0005382 10.35 EFNB1 FGFR1 FGFR2 FGFR3 FLNB GLI3
3 growth/size/body region MP:0005378 10.34 EFNB1 FGFR1 FGFR2 FGFR3 FLNB GDF5
4 mortality/aging MP:0010768 10.33 EFNB1 FGFR1 FGFR2 FGFR3 FLNB GDF5
5 limbs/digits/tail MP:0005371 10.31 BHLHA9 EFNB1 FGFR1 FGFR2 FGFR3 FLNB
6 embryo MP:0005380 10.25 EFNB1 FGFR1 FGFR2 GDF5 GLI3 MECOM
7 digestive/alimentary MP:0005381 10.22 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 MSX2
8 integument MP:0010771 10.16 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 MECOM
9 nervous system MP:0003631 10.15 BHLHA9 EFNB1 FGFR1 FGFR2 FGFR3 FLNB
10 hearing/vestibular/ear MP:0005377 10.08 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 MECOM
11 normal MP:0002873 9.92 FGFR1 FGFR2 FGFR3 GLI3 MECOM MSX2
12 reproductive system MP:0005389 9.91 EFNB1 FGFR1 FGFR2 FGFR3 GDF5 GLI3
13 skeleton MP:0005390 9.86 EFNB1 FGFR1 FGFR2 FGFR3 FLNB GDF5
14 respiratory system MP:0005388 9.81 EFNB1 FGFR2 FGFR3 FLNB GLI3 MECOM
15 vision/eye MP:0005391 9.32 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 MSX2

Drugs & Therapeutics for Synostosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Craniofacial Imaging With 3D MRI: an Alternative to Ionising Radiation Recruiting NCT04695938
2 Clinical Feasibility Study of Preoperative Surgical Planning for Craniosynostosis Procedures Recruiting NCT03812159
3 Transtibial Amputation Outcomes Study (TAOS): Comparing Transtibial Amputation With (Ertl) and Without a Tibia-fibula Synostosis Procedure Active, not recruiting NCT01821976

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, Eye, Bone Marrow, Brain, Spinal Cord, Thyroid, Thymus

Publications for Synostosis

Articles related to Synostosis:

(show top 50) (show all 2951)
# Title Authors PMID Year
1
Medical treatment of craniosynostosis: recombinant Noggin inhibits coronal suture closure in the rat craniosynostosis model. 54 61
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. 61 54
18317141 2008
6
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. 61 54
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. 61 54
17289391 2007
10
HOXA11 mutation in amegakaryocytic thrombocytopenia with radio-ulnar synostosis syndrome inhibits megakaryocytic differentiation in vitro. 61 54
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). 54 61
15253176 2004
17
[Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)]. 61 54
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. 61 54
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. 61 54
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. 54 61
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
[Saethre-Chotzen syndrome: a case report]. 61
33749202 2021
28
Evaluation of fronto-orbital reconstruction surgery for the treatment of metopic synostosis in Chinese population. 61
33404707 2021
29
Disappointing results of spring-assisted cranial vault expansion in patients with Crouzon syndrome presenting with sagittal synostosis. 61
33794489 2021
30
Management of sagittal synostosis in the Synostosis Research Group: baseline data and early outcomes. 61
33794498 2021
31
Improved cephalic index following early cranial vault remodeling in patients with isolated nonsyndromic sagittal synostosis. 61
33794490 2021
32
Defining the critical period of hedgehog pathway inhibitor-induced cranial base dysplasia in mice. 61
33165989 2021
33
Coronal and lambdoid suture evolution following total vault remodeling for scaphocephaly. 61
33794500 2021
34
Ultra-early synostectomy and cranial remodeling orthoses in the management of craniosynostoses. 61
33794492 2021
35
Sport participation and related head injuries following craniosynostosis correction: a survey study. 61
33794495 2021
36
Partial suturectomy for phenotypical craniosynostosis caused by incomplete fusion of cranial sutures: a novel surgical solution. 61
33794501 2021
37
A Three-Step Method for the Treatment of Radioulnar Synostosis with Posterior Radial Head Dislocation. 61
33559562 2021
38
Discussion: Long-Term Neurocognitive Outcomes of Spring-Assisted Surgery versus Cranial Vault Remodeling for Sagittal Synostosis. 61
33620935 2021
39
Discussion: Long-Term Neurocognitive Outcomes of Spring-Assisted Surgery versus Cranial Vault Remodeling for Sagittal Synostosis. 61
33620936 2021
40
Long-Term Neurocognitive Outcomes of Spring-Assisted Surgery versus Cranial Vault Remodeling for Sagittal Synostosis. 61
33620934 2021
41
New method for quantification of the relative severity and (a)symmetry of isolated metopic synostosis. 61
33744098 2021
42
Biparietal meander expansion technique for sagittal suture synostosis in patients older than 1 year of age-technical note. 61
33682045 2021
43
Linear craniectomy for early posterior decompression in craniosynostoses: technique and results. 61
33713165 2021
44
Melanotic Neuroectodermal Tumor of Infancy in the Ulna of an Infant: A Very Rare Tumor: A Case Report. 61
33684079 2021
45
Arthroscopic Calcaneonavicular Coalition and Too-long Anterior Process of the Calcaneus Resection in Children. 61
33461922 2021
46
Multiple Osteochondromas Comorbid With Enlarged Parietal Foramina, Elongated Styloid Processes, and Tibiofibular Synostosis. 61
33769443 2021
47
Dental Age, Agenesis, and Morphology in Patients With Operated Single-Suture Craniosynostoses. 61
32815397 2021
48
Congenital Maxillomandibular Syngnathia: Review of Literature and Proposed New Classification System. 61
33584038 2021
49
Long-term ophthalmic outcomes in 120 children with unilateral coronal synostosis: a 20-year retrospective analysis. 61
33716150 2021
50
Cephalocranial Disproportionate Fossa Volume and Normal Skull Base Angle in Pfeiffer Syndrome. 61
33704985 2021

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 cytoplasm GO:0005737 9.8 SMAD6 RECQL4 RAB23 NELL1 MYH3 MECOM
2 nucleus GO:0005634 9.53 TWIST1 TBX22 SMAD6 RECQL4 NELL1 MSX2

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.18 TWIST1 TBX22 SMAD6 MSX2 MECOM HOXA11
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.11 TWIST1 TBX22 NOG MSX2 GLI3 FGFR2
3 negative regulation of transcription, DNA-templated GO:0045892 10.07 TWIST1 TBX22 MSX2 MECOM GLI3
4 cell differentiation GO:0030154 10.02 TWIST1 SMAD6 NOG NELL1 MECOM FLNB
5 MAPK cascade GO:0000165 9.95 MAP3K7 FGFR3 FGFR2 FGFR1
6 cell-cell signaling GO:0007267 9.91 GDF5 FGFR3 FGFR2 EFNB1
7 in utero embryonic development GO:0001701 9.88 TWIST1 NOG GLI3 FGFR2
8 transforming growth factor beta receptor signaling pathway GO:0007179 9.84 SMAD6 MAP3K7 GDF5
9 osteoblast differentiation GO:0001649 9.84 TWIST1 NOG MSX2
10 wound healing GO:0042060 9.83 NOG GLI3 FGFR2
11 muscle organ development GO:0007517 9.83 TWIST1 MYH3 FLNB
12 BMP signaling pathway GO:0030509 9.81 SMAD6 NOG GDF5
13 fibroblast growth factor receptor signaling pathway GO:0008543 9.8 FGFR3 FGFR2 FGFR1
14 positive regulation of kinase activity GO:0033674 9.78 FGFR3 FGFR2 FGFR1
15 positive regulation of epithelial cell proliferation GO:0050679 9.73 TWIST1 NOG FGFR2
16 skeletal system development GO:0001501 9.73 NOG HOXA11 FGFR3 FGFR1
17 negative regulation of cell differentiation GO:0045596 9.71 TWIST1 NOG GLI3
18 bone development GO:0060348 9.7 TWIST1 HOXA11 FGFR2
19 anatomical structure formation involved in morphogenesis GO:0048646 9.68 NOG GLI3
20 endocardial cushion morphogenesis GO:0003203 9.67 TWIST1 NOG
21 negative regulation of osteoblast differentiation GO:0045668 9.67 TWIST1 SMAD6 NOG
22 embryonic digestive tract morphogenesis GO:0048557 9.65 GLI3 FGFR2
23 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 9.64 SMAD6 NOG
24 epithelial to mesenchymal transition GO:0001837 9.63 NOG FGFR2 FGFR1
25 embryonic skeletal joint morphogenesis GO:0060272 9.62 NOG HOXA11
26 hindlimb morphogenesis GO:0035137 9.62 TWIST1 GDF5
27 mesenchymal cell differentiation GO:0048762 9.6 NOG FGFR2
28 endochondral bone growth GO:0003416 9.59 FGFR3 FGFR2
29 dorsal/ventral pattern formation GO:0009953 9.58 NOG HOXA11 GLI3
30 mitral valve morphogenesis GO:0003183 9.57 TWIST1 SMAD6
31 embryonic digit morphogenesis GO:0042733 9.56 TWIST1 NOG HOXA11 GLI3
32 membranous septum morphogenesis GO:0003149 9.55 NOG FGFR2
33 ureteric bud development GO:0001657 9.54 SMAD6 NOG FGFR2
34 cranial suture morphogenesis GO:0060363 9.51 TWIST1 MSX2
35 positive regulation of chondrocyte differentiation GO:0032332 9.5 HOXA11 GLI3 GDF5
36 multicellular organism development GO:0007275 9.47 TWIST1 TBX22 RECQL4 RAB23 NOG MSX2
37 embryonic limb morphogenesis GO:0030326 9.35 TWIST1 MYH3 HOXA11 GLI3 GDF5
38 positive regulation of phospholipase activity GO:0010518 9.33 FGFR3 FGFR2 FGFR1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.35 TWIST1 TBX22 SMAD6 RECQL4 RAB23 NOG
2 identical protein binding GO:0042802 9.92 TWIST1 SMAD6 MAP3K7 GDF5 FLNB FGFR3
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.55 TWIST1 TBX22 MSX2 GLI3 BHLHA9
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 FGFR3 FGFR2 FGFR1
5 fibroblast growth factor binding GO:0017134 9.13 FGFR3 FGFR2 FGFR1
6 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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