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:

Search ClinicalTrials for Synostosis

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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, Testes, Brain, Eye

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
Improving ophthalmic outcomes in children with unilateral coronal synostosis by treatment with endoscopic strip craniectomy and helmet therapy rather than fronto-orbital advancement. (23791406)
2013
2
Bilateral coronal and sagittal synostosis in X-linked hypophosphatemic rickets: a case report. (23466123)
2013
3
A novel quantitative image-based method for evaluating cranial symmetry and its usefulness in patients undergoing surgery for unicoronal synostosis. (23348278)
2013
4
Total cranial vault remodeling for isolated sagittal synostosis: part I. Postoperative cranial suture patency. (24076708)
2013
5
Benign radiographic coronal synostosis after sagittal synostosis repair. (23714915)
2013
6
Endoscope-assisted repair of metopic synostosis. (24092423)
2013
7
Interfrontal angle for characterization of trigonocephaly: part 1: development and validation of a tool for diagnosis of metopic synostosis. (22565928)
2012
8
The variable position of the ear in lambdoid synostosis. (20948412)
2011
9
Analysis of differences in the cranial base and facial skeleton of patients with lambdoid synostosis and deformational plagiocephaly. (20871483)
2011
10
Synostosis of the joint between the body and greater cornu of the human hyoid bone. (21538567)
2011
11
Radiographic assessment of congenital C2-3 synostosis. (20808002)
2010
12
Zygomaticotemporal suture synostosis causes progressive facial deformity and asymmetry. (19337068)
2009
13
Re: Scaphoid fracture in bilateral congenital synostosis of the scaphoid and trapezium. (19369304)
2009
14
Is isolated sagittal synostosis an isolated condition? (19276825)
2009
15
Unilateral radio-ulnar synostosis and idic-Y chromosome. (19239087)
2008
16
Proximal tibiofibular synostosis with 49,XXXXY syndrome, a rare congenital bone anomaly. (18696202)
2008
17
Derotational osteotomy of the proximal radius and the distal ulna for congenital radioulnar synostosis. (19308546)
2008
18
Hearing loss in pediatric patients with isolated nonsyndromic sagittal synostosis. (18053583)
2008
19
Effect of midfacial distraction on the obstructed airway in patients with syndromic bilateral coronal synostosis. (18940499)
2008
20
Congenital radioulnar synostosis, azoospermia, and pseudodicentric Y chromosome. (18177653)
2008
21
Craniofacial anomalies, humero-radial synostosis, rhizomelic limb shortness: previously unrecognized autosomal recessive syndrome. (17304553)
2007
22
Anterior fontanelle morphology in unilateral coronal synostosis: a clear clinical (nonradiographic) sign for the diagnosis of frontal plagiocephaly. (17440369)
2007
23
Changes in anthropometric values of paired craniofacial measurements of patients with right coronal synostosis. (16557078)
2006
24
Unilateral mandibulomaxillar synostosis as a single anomaly in a newborn. (16631495)
2006
25
Congenital radioulnar synostosis: a case report of a probable subtype. (15168190)
2004
26
Posttraumatic pediatric distal tibiofibular synostosis: a case report. (15215031)
2004
27
Correction of sagittal synostosis using a modified Pi method. (15219754)
2004
28
A late result of an early operation for unilateral coronal synostosis. (12759513)
2003
29
Bilateral elbow malformation in a cat caused by radio-ulnar synostosis. (12816369)
2003
30
How to decrease the impact of surgical scar in the correction of sagittal synostosis. (12541085)
2003
31
Proximal radial resection for posttraumatic radioulnar synostosis: a new technique to improve forearm rotation. (12004015)
2002
32
Mandibular form in a rabbit model of familial nonsyndromic coronal suture synostosis. (12000881)
2002
33
Quantification of osseous facial dysmorphology in untreated unilateral coronal synostosis. (10946921)
2000
34
Proximal radioulnar synostosis. (11057491)
2000
35
Spondylocarpotarsal synostosis syndrome and cervical instability. (10766994)
2000
36
Congenital synostosis between the scaphoid and the trapezium as a cause of tenosynovitis simulating de Quervain's disease. (10989763)
2000
37
Mobilization of a congenital proximal radioulnar synostosis with use of a free vascularized fascio-fat graft. (9730128)
1998
38
Ultrasonic prenatal diagnosis of coronal suture synostosis. (9482048)
1997
39
Lambdoid synostosis and occipital plagiocephaly: clinical decision rules for surgical intervention. (15096021)
1997
40
Long-term studies of metopic synostosis: frequency of cognitive impairment and behavioral disturbances. (8559809)
1996
41
Asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia in a male infant. (8723105)
1996
42
Growth of the cranial vault in rabbits with congenital coronal suture synostosis. (7605791)
1995
43
Treatment of posttraumatic radioulnar synostosis with excision and low-dose radiation. (8349985)
1993
44
Pin-site radioulnar synostosis after external fixation of a distal radial fracture: two case reports. (8472223)
1993
45
Proximal tibio-fibular synostosis. A rare congenital anomaly. (1872166)
1991
46
Humeroradioulnar synostosis appearing as distal humeral bifurcation in a patient with distal phocomelia of the upper limbs and radial ectrodactyly. (6465206)
1984
47
Post-traumatic radioulnar synostosis. (6403269)
1983
48
Congenital radio-ulnar synostosis. Report of 37 cases. (5486179)
1970
49
Radioulnar synostosis, behavioral disturbance, and XYY chromosomes. (5782813)
1969
50
CONGENITAL RADIO-ULNAR SYNOSTOSIS. (20775741)
1930

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
Hide members
10.1FGFR2, FGFR3, FGFR1
210.1FGFR1, FGFR2, FGFR3
3
Development FGF-family signaling
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10.1FGFR1, FGFR2, FGFR3
4
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10.1FGFR2, FGFR1, FGFR3
5
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10.1FGFR2, FGFR1, FGFR3
6
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10.1FGFR3, FGFR1, FGFR2
710.1FGFR1, FGFR2, FGFR3
810.1FGFR3, FGFR2, FGFR1
9
Hide members
10.1FGFR1, FGFR3, FGFR2
10
Hide members
10.0FGFR3, FGFR1, FGFR2, FLNB
1110.0FGFRL1, FGFR1, FGFR2, FGFR3
1210.0FGFR3, FGFR2, GREM1, FGFR1
13
Hide members
9.9FGFR2, FGFR1, FGFR3, GDF5
14
Hide members
9.9GDF5, FGFR1, FGFR3, FGFR2
159.9TWIST1, FGFR2, FGFR1, FGFR3, MSX2
16
Hide members
9.8FGFR1, GDF5, FLNB, FGFR3, FGFR2

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, 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

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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