MCID: SYN005
MIFTS: 51

Synostosis malady

Summaries for Synostosis

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
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Wikipedia:64 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 muenke syndrome. 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 marrow, brain and skeletal muscle, 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

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 35MeSH
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Aliases & Descriptions:

synostosis 8 10 45


External Ids:

Disease Ontology8 DOID:11971
MeSH35 D013580

Related Diseases for Synostosis

Sources:
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 289)
idRelated DiseaseScoreTop Affiliating Genes
1radioulnar synostosis31.1ATRN, FGFRL1, HOXA11, TBX4, ATRNL1
2muenke syndrome30.3FGFR3, FGFR1, FGFR2, TWIST1
3antley-bixler syndrome30.3FGFR2
4short stature30.2FGFR3, GDF5
5syndactyly30.1FGFR3, NOG, FGFR2, MSX2, GDF5
6proximal symphalangism30.0NOG, GDF5
7crouzon syndrome30.0FGFR2, FGFR3, MSX2, FGFR1
8saethre-chotzen syndrome30.0FGFR3, MSX2, TWIST1, FGFR2, FGFR1
9achondroplasia29.9MSX2, FGFR3, FGFR2
10osteoglophonic dysplasia29.6FGFR1
11polydactyly29.6FGFR2
12beare-stevenson cutis gyrata syndrome29.6FGFR2
13infectious mononucleosis29.6FGFR1, FGFR2
14cleft palate29.6FGFR2, FGFR1, TWIST1
15jackson-weiss syndrome29.6FGFR3, FGFR1, FGFR2
16acrocephalosyndactylia29.6FGFR1, FGFR2, FGFR3
17ladd syndrome29.6FGFR2, FGFR3
18osteochondroma29.6FGFR3
19lambdoid synostosis10.6
20spondylocarpotarsal synostosis syndrome10.6
21congenital radio-ulnar synostosis10.5
22proximal radioulnar synostosis10.5
23plagiocephaly10.4
24humeroradioulnar synostosis10.3
25microcephaly10.2
26n syndrome10.2
27ramer ladda syndrome10.2
28radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation10.2
29synostosis - microcephaly - scoliosis10.2
30tibio-fibular synostosis10.2
31radio-ulnar synostosis, unilateral10.2
32fg syndrome10.1
33micro syndrome10.1
34coronal synostosis, syndactyly and jejunal atresia10.1
35jorgenson lenz syndrome10.1
36radioulnar synostosis retinal pigment abnormalities10.1
37radio-ulnar synostosis type 210.1
38radio-ulnar synostosis type 110.1
39radio-ulnar synostosis, bilateral10.1
40roberts syndrome10.1
41thrombocytopenia10.1
42short syndrome10.1
43mesomelic dysplasia kantaputra type10.1
44mental retardation10.1
45radioulnar synostosis with amegakaryocytic thrombocytopenia10.1
46craniosynostosis - hydrocephalus - chiari i malformation - radioulnar synostosis10.1
47radio-ulnar synostosis - intellectual deficit - hypotonia10.1
48humero-ulnar synostosis10.1
49williams-beuren syndrome10.0
50williams syndrome10.0

Graphical network of the top 20 diseases related to Synostosis:



Diseases related to synostosis

Clinical Features for Synostosis

Drugs & Therapeutics for Synostosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Synostosis

Drug clinical trials:

Search ClinicalTrials for Synostosis

Search NIH Clinical Center for Synostosis

Search CenterWatch for Synostosis

Genetic Tests for Synostosis

Anatomical Context for Synostosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Synostosis:

33
Bone marrow, Brain, Skeletal muscle, Thyroid, T cells, B cells, Fetal brain, Fetal thyroid

Animal Models for Synostosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Synostosis:

37 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.9MSX2, FGFR2, RECQL4, ATRN
2MP:00053779.9FGFR2, FGFR1, FGFR3, NOG, MSX2
3MP:00053819.7RECQL4, FGFR2, FGFR1, FGFR3, NOG, MSX2
4MP:00053679.7GREM1, HOXA11, FGFR2, FGFR1, FGFR3, FGFRL1
5MP:00030129.6TBX4, HOXA11, FGFR2, FGFR1, FGFR3, SERPINA6
6MP:00053699.5ATRNL1, ATRN, FGFR2, FGFR1, FGFRL1, NOG
7MP:00107719.5ATRNL1, ATRN, RECQL4, FGFR2, FGFR1, FGFR3
8MP:00053809.4FGFR2, RECQL4, GREM1, TBX4, FGFR1, FGFRL1
9MP:00053829.4FLNB, GREM1, RECQL4, FGFR2, FGFR1, FGFR3
10MP:00053869.3FLNB, ATRN, FGFR2, FGFR1, FGFR3, FGFRL1
11MP:00053849.3FLNB, TBX4, GREM1, HOXA11, RECQL4, FGFR2
12MP:00028739.3TBX4, FGFR2, FGFR1, FGFR3, FGFRL1, NOG
13MP:00053719.3TWIST1, FLNB, TBX4, GREM1, GDF5, HOXA11
14MP:00053859.2FLNB, ATRNL1, ATRN, TBX4, FGFR2, FGFR1
15MP:00053909.1HOXA11, GDF5, GREM1, TBX4, FLNB, RECQL4
16MP:00053789.1RECQL4, GDF5, MASP1, ATRN, FLNB, FGFR2
17MP:00036319.0FLNB, ATRNL1, ATRN, TBX4, GREM1, FGFR2
18MP:00107688.6HOXA11, GDF5, MASP1, GREM1, TBX4, ATRN

Publications for Synostosis

Sources:
51PubMed
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Articles related to Synostosis:

(show top 50)    (show all 543)
idTitleAuthorsYear
1
Urolithiasis in a child with Spondylocarpotarsal Synostosis Syndrome: A Co-Incidence. (24179936)
2013
2
Treatment of blocked elbow flexion in congenital radioulnar synostosis with radial head excision: a case series. (23752153)
2013
3
Mandibular alterations and facial lower third asymmetries in unicoronal synostosis. (23274637)
2013
4
Early treatment of coronal synostosis with endoscopy-assisted craniectomy and postoperative cranial orthosis therapy: 16-year experience. (23808724)
2013
5
Magnetic resonance imaging in isolated sagittal synostosis. (22801186)
2012
6
Management of posttraumatic radioulnar synostosis. (22751164)
2012
7
Minimally invasive strip craniectomy for sagittal synostosis. (22565892)
2012
8
Involvement of the sphenosquamosal suture for unilateral coronal synostosis. (22948651)
2012
9
Discussion: Temporal hollowing following surgical correction of unicoronal synostosis. (21701339)
2011
10
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. (21326280)
2011
11
Coronal synostosis syndrome (Muenke syndrome): the value of genetic testing versus clinical diagnosis. (21233754)
2011
12
Reconstruction of a chronic Monteggia fracture with associated radioulnar synostosis. (20512175)
2010
13
The mechanism of acute elbow flexion contracture in children with congenital proximal radioulnar synostosis. (20357595)
2010
14
Preoperative craniofacial dysmorphology in isolated sagittal synostosis: a comprehensive anthropometric evaluation. (20856028)
2010
15
Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome? (20186786)
2010
16
Scaphocephaly part II: Secondary coronal synostosis after scaphocephalic surgical correction. (19816363)
2009
17
Isolated congenital pseudoarthrosis of the fibula: a comparison of fibular osteosynthesis with distal tibiofibular synostosis. (19034172)
2008
18
Reducing blood loss in synostosis surgery: the Liverpool experience. (18812878)
2008
19
Spring-assisted cranioplasty vs pi-plasty for sagittal synostosis--a long term follow-up study. (18216666)
2008
20
A comparison of proximal radioulnar synostosis excision after trauma and distal biceps reattachment. (17629506)
2007
21
Heterotopic ossification causing proximal radioulnar synostosis after insertion of a radial head prosthesis. (16753242)
2006
22
A case of unilateral coronal synostosis in a child with craniofacial microsomia. (17105329)
2006
23
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. (16251895)
2006
24
Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis. (16681404)
2006
25
HOXA11 mutation in amegakaryocytic thrombocytopenia with radio-ulnar synostosis syndrome inhibits megakaryocytic differentiation in vitro. (16765069)
2006
26
Relationship of brain and skull in pre- and postoperative sagittal synostosis. (15817105)
2005
27
The bowstring canthal advancement: a new technique to correct the flattened supraorbital rim in unilateral coronal synostosis. (15915124)
2005
28
Treatment of nonsyndromic bilateral coronal synostosis using a multiple bone flap rotation-reposition technique. (15213538)
2004
29
Free adipofascial flap interposition for pediatric posttraumatic forearm synostosis with closed head injury. (15502471)
2004
30
FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis. (15041782)
2003
31
Speech, language, and cognitive development in children with isolated sagittal synostosis. (12549753)
2003
32
Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)]. (12764678)
2003
33
Posttraumatic distal radioulnar synostosis and distal radial epiphyseal arrest. (11881314)
2002
34
Molding helmet therapy in the management of sagittal synostosis. (12218789)
2002
35
Spondylocarpotarsal synostosis with epiphyseal dysplasia. (11992487)
2002
36
The faith of a coronal suture grafted onto midline synostosis inducing dura and deprived from tensile stress. (11522177)
2001
37
Cranial compression by reverse distraction: a new technique for correction of sagittal synostosis. (11547158)
2001
38
Lunatomalacia in association with congenital synostosis between the capitate and the hamate. (11582910)
2001
39
Sagittal synostosis. (16833254)
2000
40
Photographic assessment of head shape following sagittal synostosis surgery. (10323691)
1999
41
Preoperative morphology and development in sagittal synostosis. (9672839)
1998
42
Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. (9580776)
1998
43
Osteoblast-directed osteoclast metabolism from patients with premature coronal synostosis. (9145118)
1997
44
Antley-Bixler syndrome: a disorder characterized by congenital synostosis of the elbow joint and the cranial suture. (8742293)
1996
45
Radioulnar synostosis in Williams syndrome: a historical overview. (8209922)
1994
46
Radioulnar synostosis in Williams-Beuren syndrome: a component manifestation. (8456863)
1993
47
Tibiofibular synostosis in professional basketball players. (8368426)
1993
48
Treatment of functional lambdoid synostosis. (1821312)
1991
49
Congenital radioulnar synostosis. (6643957)
1983
50
Case of Congenital Radio-ulnar Synostosis, after Operation, in a Boy, aged 10. (19982688)
1922

Genetic Variations for Synostosis

Expression for genes affiliated with Synostosis

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

Search GEO for disease gene expression data for Synostosis.

Pathways for genes affiliated with Synostosis

Sources:
54Reactome, 53R&D Systems, 52QIAGEN, 12EMD Millipore, 50PharmGKB, 4Cell Signaling Technology, 38NCBI BioSystems Database, 30KEGG
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Pathways related to Synostosis according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.1FGFR3, FGFR1, FGFR2
210.1FGFR3, FGFR1, FGFR2
3
Development FGF-family signaling
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10.1FGFR3, FGFR1, FGFR2
4
Hide members
10.1FGFR2, FGFR1, FGFR3
5
Hide members
10.1FGFR3, FGFR1, FGFR2
6
Hide members
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

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank, 24HMDB
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Compounds related to Synostosis according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1su 54026010.4FGFR3, FGFR2, FGFR1
2pd 1615706010.4FGFR2, FGFR1, FGFR3
3fiin 1 hydrochloride6010.4FGFR2, FGFR1, FGFR3
4su54024510.3FGFR2, FGFR1, FGFR3
5SU49841110.3FGFR2, FGFR1
6pd 17307445 6011.3FGFR3, FGFR1, FGFR2
7palifermin45 1111.3FGFR2, FGFR1, FGFR3
8Ponatinib 1110.2FGFR3, FGFR1, FGFR2
9sulfate45 2411.1SERPINA6, FGFR3, FGFR2
10ribonucleic acid459.7FGFR2, FGFR1, NOG, SERPINA6
11tyrosine459.6GDF5, FGFR2, FGFR1, FGFR3, FGFRL1, TWIST1
12cysteine459.5GREM1, GDF5, FGFR2, FGFR1, FGFR3, NOG

GO Terms for genes affiliated with Synostosis

Sources:
16Gene Ontology
See all sources

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, FGFR2, FGFR1
2fibroblast growth factor-activated receptor activityGO:00500710.1FGFRL1, FGFR3, FGFR1, FGFR2
3heparin bindingGO:00820110.1FGFR2, FGFR1, FGFRL1
4fibroblast growth factor bindingGO:01713410.1FGFRL1, FGFR3, FGFR1, FGFR2
5protein homodimerization activityGO:0428039.7FGFR1, NOG, TWIST1, FGFR2, MASP1
6protein bindingGO:0055158.5GREM1, TWIST1, BCOR, MSX2, NOG, FGFR3

Products for genes affiliated with Synostosis

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Sources for Synostosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet