MCID: SYN005
MIFTS: 51

Synostosis malady

Summaries for Synostosis

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Wikipedia:63 Synostosis means fusion of two bones, it can be normal in puberty, fusion of the epiphysis, or abnormal.... more...

MalaCards: Synostosis is related to radioulnar synostosis and craniosynostosis. An important gene associated with Synostosis is HOXA11 (homeobox A11), and among its related pathways are Ca-dependent events and Akt Signaling Pathway . The compounds su 5402 and pd 161570 have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and thyroid, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

Disease Ontology:8 A dysostosis that results in abnormal fusing of adjacent bones.

Aliases & Classifications for Synostosis

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH
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Aliases & Descriptions:

synostosis 8 10 44


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Disease Ontology8 DOID:11971
MeSH34 D013580

Related Diseases for Synostosis

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17GeneCards, 18GeneDecks
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Diseases in the Multiple Synostosis Syndrome 1 family:

synostosis

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

(show top 50)    (show all 278)
idRelated DiseaseScoreTop Affiliating Genes
1radioulnar synostosis31.1ATRN, FGFRL1, HOXA11, TBX4, ATRNL1
2craniosynostosis30.5RECQL4, FGFR2, FGFR1, FGFR3, NOG, MSX2
3muenke syndrome30.3FGFR3, FGFR1, FGFR2, TWIST1
4antley-bixler syndrome30.3FGFR2
5syndactyly30.1FGFR3, NOG, FGFR2, MSX2, GDF5
6proximal symphalangism30.0NOG, GDF5
7saethre-chotzen syndrome30.0FGFR3, MSX2, TWIST1, FGFR2, FGFR1
8achondroplasia29.8MSX2, FGFR3, FGFR2
9crouzon syndrome29.8FGFR2, FGFR3, MSX2, FGFR1
10osteoglophonic dysplasia29.6FGFR1
11polydactyly29.6FGFR2
12beare-stevenson cutis gyrata syndrome29.6FGFR2
13hypogonadism29.6FGFR1
14infectious mononucleosis29.6FGFR1, FGFR2
15cleft palate29.6FGFR2, FGFR1, TWIST1
16jackson-weiss syndrome29.6FGFR3, FGFR1, FGFR2
17acrocephalosyndactylia29.6FGFR1, FGFR2, FGFR3
18ladd syndrome29.6FGFR2, FGFR3
19spondylocarpotarsal synostosis syndrome10.5
20congenital radio-ulnar synostosis10.3
21microcephaly10.2
22ramer ladda syndrome10.2
23radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation10.2
24cervicitis10.1
25hypertension10.1
26intracranial hypertension10.1
27coronal synostosis, syndactyly and jejunal atresia10.1
28jorgenson lenz syndrome10.1
29radioulnar synostosis retinal pigment abnormalities10.1
30radio-ulnar synostosis type 210.1
31humeroradioulnar synostosis10.1
32radio-ulnar synostosis type 110.1
33roberts syndrome10.1
34thrombocytopenia10.1
35lambdoid synostosis10.1
36mesomelic dysplasia kantaputra type10.1
37radioulnar synostosis with amegakaryocytic thrombocytopenia10.1
38craniosynostosis - hydrocephalus - chiari i malformation - radioulnar synostosis10.1
39synostosis - microcephaly - scoliosis10.1
40radio-ulnar synostosis - intellectual deficit - hypotonia10.1
41williams-beuren syndrome10.0
42williams syndrome10.0
43syndactyly cenani lenz type10.0
44cleft palate colobomata radial synostosis deafness10.0
45congenital heart disease radio ulnar synostosis mental retardation10.0
46mesomelia-synostoses syndrome10.0
47nievergelt syndrome10.0
48oto-palato-digital syndrome type 110.0
49craniosynostosis 410.0
50proximal radioulnar synostosis10.0

Graphical network of the top 20 diseases related to Synostosis:



Diseases related to synostosis

Clinical Features for Synostosis

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Drugs & Therapeutics for Synostosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Synostosis

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Anatomical Context for Synostosis

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32MalaCards
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MalaCards organs/tissues related to Synostosis:

32
Bone, Bone marrow, Thyroid, Eye, Brain, Testes

Animal Models for Synostosis or affiliated genes

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36MGI
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Publications for Synostosis

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50PubMed
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Articles related to Synostosis:

(show top 50)    (show all 543)
idTitleAuthorsYear
1
Delayed intracranial hypertension after cranial vault remodeling for nonsyndromic single-suture synostosis. (23581636)
2013
2
The relationship between scaphocephaly at the skull vault and skull base in sagittal synostosis. (23800755)
2013
3
Analysis of cosmetic results of metopic synostosis: concordance and interobserver variability. (23348306)
2013
4
Results of early surgery for sagittal suture synostosis: long-term follow-up and the occurrence of raised intracranial pressure. (23334575)
2013
5
Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations. (22544111)
2012
6
Letter to the editor: helmets and synostosis. (22462717)
2012
7
Nonendoscopic, minimally invasive calvarial vault remodeling without postoperative helmeting for sagittal synostosis. (22380948)
2012
8
Effects of different surgical techniques on cephalic index and intracranial volume in isolated bilateral coronal synostosis model. (22565916)
2012
9
Operative complications of combat-related transtibial amputations: a comparison of the modified burgess and modified Ertl tibiofibular synostosis techniques. (21655894)
2011
10
Carpal coalition with radioscaphoid synostosis and hypoplastic thumb. (22268019)
2011
11
Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation. (20562651)
2010
12
Congenital humeroradial synostosis. (20535461)
2010
13
Two cases of feline ectromelia: autopodium ectromelia associated with humero-ulnar synostosis and zeugopodium ectromelia. (19560386)
2009
14
Calvarial remodelling for sagittal synostosis: does fibrin glue (Tisseel) reduce post-operative blood transfusion requirements? (19326127)
2009
15
Facial asymmetry in unilateral coronal synostosis: long-term results after fronto-orbital advancement. (18300974)
2008
16
Frontosphenoidal synostosis: a rare cause of unilateral anterior plagiocephaly. (17891404)
2007
17
Spring-assisted correction of hypotelorism in metopic synostosis. (17312504)
2007
18
Two-stage double-level rotational osteotomy in the treatment of congenital radioulnar synostosis. (18260481)
2007
19
Astigmatism in unilateral coronal synostosis: incidence and laterality. (17588790)
2007
20
GDF5 is a second locus for multiple-synostosis syndrome. (16532400)
2006
21
Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation. (16761119)
2006
22
Congenital metacarpal synostosis treated by double bone blocks technique: a case report from Thailand. (16106516)
2005
23
Radioulnar synostosis after the two-incision biceps repair: a standardized treatment protocol. (15220887)
2004
24
The use of pedicled posterior interosseous fat graft for mobilization of congenital radioulnar synostosis: a case report. (14997106)
2004
25
Metopic synostosis: Defining the temporal sequence of normal suture fusion and differentiating it from synostosis on the basis of computed tomography images. (14504503)
2003
26
"A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities": Cohen syndrome with thrombocytopenia. (12558120)
2002
27
Post-traumatic metacarpal synostosis. (11819081)
2002
28
Metacarpal synostosis: a simple classification and a new treatment technique. (11604623)
2001
29
Long-term follow-up of dynamic cranioplasty for brachycephaly--non-syndromal bicoronal synostosis. (11484525)
2001
30
Age-related changes in intracranial pressure in rabbits with uncorrected familial coronal suture synostosis. (10912716)
2000
31
Spondylocarpotarsal synostosis with ocular findings. (10748412)
2000
32
Congenital synostosis of the fourth and fifth metacarpals treated by free bone grafting from the fusion site. (10809107)
2000
33
Human NELL-1 expressed in unilateral coronal synostosis. (9893069)
1999
34
Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis. (10517248)
1999
35
Operative treatment of post-traumatic proximal radioulnar synostosis. (9486731)
1998
36
Multiple suture synostosis and increased intracranial pressure following repair of single suture, nonsyndromal craniosynostosis. (9527314)
1998
37
Congenital radioulnar synostosis. Study of a series of 37 children and adolescents. (10855298)
1998
38
Nonpenetrance in FGFR3-associated coronal synostosis syndrome. (9843059)
1998
39
Obstetrical factors governing the etiopathogenesis of lambdoid synostosis. (9643631)
1998
40
Stability of fronto-orbital advancement in nonsyndromic bilateral coronal synostosis: a quantitative three-dimensional computed tomographic study. (8700973)
1996
41
Occipital plagiocephaly: deformation or lambdoid synostosis? II. A unifying theory regarding pathogenesis. (8841076)
1996
42
Late correction of sagittal synostosis in children. (8643718)
1996
43
Distal tibiofibular synostosis after ankle fracture. A 14-year follow-up study. (8666636)
1996
44
Metopic synostosis: in favour of a "simplified" surgical treatment. (9118127)
1996
45
Management of antebrachial deformity and shortening secondary to a synostosis in a dog. (8872934)
1996
46
Asterion region synostosis. (8186221)
1994
47
Radio-ulnar synostosis following external fixation. (8294821)
1993
48
Pediatric update #11. Congenital radioulnar synostosis. A new technique for derotational osteotomy. (2320384)
1990
49
Congenital radio-ulnar synostosis. (6747418)
1984
50
Craniosynostosis. II. Coronal synostosis: its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly. (882919)
1977

Genetic Variations for Synostosis

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Expression for genes affiliated with Synostosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Synostosis

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Pathways for genes affiliated with Synostosis

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53Reactome, 52R&D Systems, 51QIAGEN, 12EMD Millipore, 49PharmGKB, 4Cell Signaling Technology, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Synostosis according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.1FGFR3, FGFR1, FGFR2
210.1FGFR3, FGFR1, FGFR2
3
Development FGF-family signaling
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10.1FGFR3, FGFR1, FGFR2
4
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10.1FGFR2, FGFR1, FGFR3
5
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10.1FGFR3, FGFR1, FGFR2
6
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10.1FGFR2, FGFR1, FGFR3
710.1FGFR2, FGFR1, FGFR3
8
Hide members
10.1FGFR2, FGFR1, FGFR3
910.1FGFR2, FGFR1, FGFR3
10
Hide members
10.0FLNB, FGFR2, FGFR1, FGFR3
1110.0FGFR2, FGFR1, FGFR3, FGFRL1
1210.0FGFR3, FGFR1, FGFR2, GREM1
13
Hide members
9.9GDF5, FGFR2, FGFR1, FGFR3
14
Hide members
9.9FGFR3, FGFR1, FGFR2, GDF5
159.9TWIST1, MSX2, FGFR3, FGFR1, FGFR2
16
Hide members
9.8FGFR3, FGFR1, FGFR2, GDF5, FLNB

Compounds for genes affiliated with Synostosis

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59Tocris Bioscience, 44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Synostosis according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1su 54025910.4FGFR3, FGFR2, FGFR1
2pd 1615705910.4FGFR2, FGFR1, FGFR3
3fiin 1 hydrochloride5910.4FGFR2, FGFR1, FGFR3
4su54024410.3FGFR2, FGFR1, FGFR3
5SU49841110.3FGFR2, FGFR1
6pd 17307444 5911.3FGFR3, FGFR1, FGFR2
7palifermin44 1111.3FGFR2, FGFR1, FGFR3
8Ponatinib 1110.2FGFR3, FGFR1, FGFR2
9sulfate44 2411.1SERPINA6, FGFR3, FGFR2
10ribonucleic acid449.7FGFR2, FGFR1, NOG, SERPINA6
11tyrosine449.6GDF5, FGFR2, FGFR1, FGFR3, FGFRL1, TWIST1
12cysteine449.5GREM1, GDF5, FGFR2, FGFR1, FGFR3, NOG

GO Terms for genes affiliated with Synostosis

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16Gene Ontology
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Cellular components related to Synostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:01602310.1FGFR3, FGFR1, FGFR2
2extracellular spaceGO:0056159.2SERPINA6, NOG, GDF5, MASP1, GREM1, ATRN

Biological processes related to Synostosis according to GeneCards/GeneDecks:

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.6FGFR1, FGFR2
2ventricular zone neuroblast divisionGO:02184710.6FGFR1, FGFR2
3positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.6FGFR1, FGFR3
4ureteric bud formationGO:06067610.6NOG, GREM1
5endochondral bone growthGO:00341610.6MSX2, FGFR3
6mesenchymal cell differentiationGO:04876210.6FGFR2, FGFR1
7negative regulation of mitosisGO:04583910.6FGFR2, FGFR3
8negative regulation of pathway-restricted SMAD protein phosphorylationGO:06039410.5GREM1, NOG
9cranial suture morphogenesisGO:06036310.5MSX2, TWIST1
10positive regulation of phospholipase activityGO:01051810.5FGFR2, FGFR1, FGFR3
11lens fiber cell developmentGO:07030710.5FGFR3, FGFR2
12outer ear morphogenesisGO:04247310.5TWIST1, FGFR1
13lung-associated mesenchyme developmentGO:06048410.5FGFR2, FGFR1
14skeletal system morphogenesisGO:04870510.5TBX4, FGFR2, FGFR1
15embryonic digit morphogenesisGO:04273310.5HOXA11, NOG, TWIST1
16peptidyl-tyrosine phosphorylationGO:01810810.5FGFR3, FGFR1, FGFR2
17embryonic forelimb morphogenesisGO:03511510.5HOXA11, MSX2, TWIST1
18negative regulation of astrocyte differentiationGO:04871210.5NOG, FGFR3
19branching involved in salivary gland morphogenesisGO:06044510.5FGFR2, FGFR1
20embryonic skeletal joint morphogenesisGO:06027210.5HOXA11, NOG
21positive regulation of MAPK cascadeGO:04341010.5FGFR3, FGFR1, FGFR2
22osteoblast differentiationGO:00164910.4NOG, MSX2, TWIST1
23outflow tract septum morphogenesisGO:00314810.4FGFR2, MSX2
24organ inductionGO:00175910.4FGFR1, HOXA11
25morphogenesis of an epitheliumGO:00200910.4FGFR3, TBX4
26regulation of multicellular organism growthGO:04001410.4ATRN, GDF5, FGFR2
27in utero embryonic developmentGO:00170110.3FGFR2, FGFR1, NOG, TWIST1
28positive regulation of chondrocyte differentiationGO:03233210.3GDF5, HOXA11
29skeletal system developmentGO:00150110.3HOXA11, FGFR1, FGFR3, FGFRL1, NOG
30negative regulation of bone mineralizationGO:03050210.2GREM1, BCOR
31positive regulation of branching involved in ureteric bud morphogenesisGO:09019010.2GREM1, NOG
32embryonic limb morphogenesisGO:03032610.2FGFR1, HOXA11, GDF5, GREM1, TBX4
33bone morphogenesisGO:06034910.2FGFR2, FGFR3
34phosphatidylinositol-mediated signalingGO:04801510.1FGFR3, FGFR1, FGFR2
35negative regulation of transcription from RNA polymerase II promoterGO:00012210.0FGFR2, FGFR1, FGFR3, NOG, MSX2, BCOR
36positive regulation of cardiac muscle cell proliferationGO:0600459.9FGFR2, FGFR1

Molecular functions related to Synostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:00471310.1FGFR3, FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:00500710.1FGFRL1, FGFR3, FGFR1, FGFR2
3heparin bindingGO:00820110.1FGFRL1, FGFR1, FGFR2
4fibroblast growth factor bindingGO:01713410.1FGFR2, FGFR1, FGFR3, FGFRL1
5protein homodimerization activityGO:0428039.7MASP1, FGFR2, FGFR1, NOG, TWIST1
6protein bindingGO:0055158.5SF3B4, FLNB, GREM1, MASP1, GDF5, FGFR2

Products for genes affiliated with Synostosis

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Sources for Synostosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet