MCID: RDL002
MIFTS: 43

Radioulnar Synostosis malady

Summaries for Radioulnar Synostosis

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48OMIM, 34MalaCards
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MalaCards: Radioulnar Synostosis is related to synostosis and craniosynostosis. An important gene associated with Radioulnar Synostosis is RECQL4 (RecQ protein-like 4), and among its related pathways are Endochondral Ossification and Signaling by FGFR3 mutants. The compounds pazopanib and regorafenib have been mentioned in the context of this disorder. Affiliated tissues include eye and bone, and related mouse phenotypes are renal/urinary system and vision/eye.

Description from OMIM:48 179300

Aliases & Classifications for Radioulnar Synostosis

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9Disease Ontology, 11DISEASES, 63UMLS, 48OMIM, 28ICD9CM, 59SNOMED-CT
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Aliases & Descriptions:

radioulnar synostosis 9 11 63


External Ids:

Disease Ontology9 DOID:9827
OMIM48 179300
SNOMED-CT59 33313004
ICD9CM28 755.53

Related Diseases for Radioulnar Synostosis

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18GeneCards, 19GeneDecks
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Diseases related to Radioulnar Synostosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1synostosis31.6RECQL4, HOXA11, FGFR3, FGFR1, FGFR2, TWIST1
2craniosynostosis30.4FGFR2, TWIST1, RECQL4, FGFR3, FGFR1
3antley-bixler syndrome30.4FGFR2
4ladd syndrome30.3FGFR2, FGFR3
5saethre-chotzen syndrome30.2FGFR2, FGFR3, FGFR1, TWIST1
6jorgenson lenz syndrome10.5
7craniosynostosis - hydrocephalus - arnold-chiari malformation type i - radioulnar synostosis10.5
8radioulnar synostosis retinal pigment abnormalities10.4
9radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation10.4
10radioulnar synostosis with amegakaryocytic thrombocytopenia10.4
11williams-beuren syndrome10.3
12microcephaly10.3
13blepharophimosis10.3
14williams syndrome10.3
15congenital radio-ulnar synostosis10.3
16nager acrofacial dysostosis10.3
17nievergelt syndrome10.3
18tetrasomy x10.3
19short stature10.3
20myositis ossificans10.2
21roberts syndrome10.2
22esophageal atresia10.2
23sensorineural hearing loss10.2
24azoospermia10.2
25esophagitis10.2
26hydrocephalus10.2
27myositis10.2
2849, xxxxx10.2
29holt-oram syndrome10.2
3048,xxxy syndrome10.2
3148,xxyy syndrome10.2
3249,xxxxy syndrome10.2
33abruzzo erickson syndrome10.2
34acrofacial dysostosis rodriguez type10.2
35al gazali syndrome10.2
36desbuquois syndrome10.2
37femoral facial syndrome10.2
38genitopatellar syndrome10.2
39humeroradioulnar synostosis10.2
40ivic syndrome10.2
41juberg-hayward syndrome10.2
42marden-walker syndrome10.2
43michels syndrome10.2
44noonan syndrome 110.2
45oculofaciocardiodental syndrome10.2
46oslam syndrome10.2
47phaver syndrome10.2
48phocomelia10.2
49pierre robin sequence10.2
50pillay syndrome10.2

Graphical network of the top 20 diseases related to Radioulnar Synostosis:



Diseases related to radioulnar synostosis

Symptoms for Radioulnar Synostosis

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48OMIM
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Clinical features from OMIM:

179300

Drugs & Therapeutics for Radioulnar Synostosis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Radioulnar Synostosis

Drug clinical trials:

Search ClinicalTrials for Radioulnar Synostosis

Search NIH Clinical Center for Radioulnar Synostosis

Search CenterWatch for Radioulnar Synostosis

Genetic Tests for Radioulnar Synostosis

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Anatomical Context for Radioulnar Synostosis

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34MalaCards
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MalaCards organs/tissues related to Radioulnar Synostosis:

34
Eye, Bone

Animal Models for Radioulnar Synostosis or affiliated genes

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38MGI
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Publications for Radioulnar Synostosis

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53PubMed
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Articles related to Radioulnar Synostosis:

(show top 50)    (show all 90)
idTitleAuthorsYear
1
Modified osteotomy (Kanaya's procedure) for congenital proximal radioulnar synostosis with posterior dislocation of radial head. (23821677)
2013
2
Gradual correction of congenital radioulnar synostosis by an osteotomy and Ilizarov external fixation. (23290465)
2013
3
Treatment of blocked elbow flexion in congenital radioulnar synostosis with radial head excision: a case series. (23752153)
2013
4
Management of posttraumatic radioulnar synostosis. (22751164)
2012
5
Preventing recurrence of radioulnar synostosis with pedicled adipofascial flaps. (21987272)
2012
6
Long-term follow-up of microvascular free tissue transfer for mobilization of congenital radioulnar synostosis. (22999592)
2012
7
Congenital radioulnar synostosis - case report. (22802806)
2010
8
Painful snapping elbow in patients with congenital radioulnar synostosis: report of two cases. (20684930)
2010
9
The developmental spectrum of proximal radioulnar synostosis. (19669136)
2010
10
Three-dimensional motion analysis of compensatory movements in patients with radioulnar synostosis performing activities of daily living. (19499298)
2009
11
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. (19022412)
2009
12
Derotational osteotomy of the proximal radius and the distal ulna for congenital radioulnar synostosis. (19308546)
2008
13
Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome? (18266249)
2008
14
A comparison of proximal radioulnar synostosis excision after trauma and distal biceps reattachment. (17629506)
2007
15
Heterotopic ossification causing proximal radioulnar synostosis after insertion of a radial head prosthesis. (16753242)
2006
16
Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis. (16681404)
2006
17
In vivo three-dimensional motion analysis of the forearm with radioulnar synostosis treated by the Kanaya procedure. (16602108)
2006
18
Congenital radioulnar synostosis treated using a microvascular free fasio-fat flap. (15880988)
2005
19
Bilateral aplasia of the thumb, proximal radioulnar synostosis and unilateral synostosis of metacarpals 4 and 5. (15083702)
2004
20
Posttraumatic radioulnar synostosis treated with a free vascularized fat transplant and dynamic splint: a report of two cases. (14676558)
2004
21
Congenital radioulnar synostosis: a case report of a probable subtype. (15168190)
2004
22
Nursemaid elbow revisited and a review of congenital radioulnar synostosis. (15537970)
2004
23
Radioulnar synostosis after the two-incision biceps repair: a standardized treatment protocol. (15220887)
2004
24
Posttraumatic distal radioulnar synostosis and distal radial epiphyseal arrest. (11881314)
2002
25
Proximal radial resection for posttraumatic radioulnar synostosis: a new technique to improve forearm rotation. (12004015)
2002
26
Distal radioulnar synostosis following K-wire fixation. (11199355)
2001
27
Proximal radioulnar synostosis treated with a free vascularised fascio-fat graft--report of two cases. (11301511)
2000
28
Proximal radioulnar synostosis. (11057491)
2000
29
Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome? (10706353)
2000
30
Radioulnar synostosis and XYY syndrome. (10649807)
2000
31
Management of radioulnar synostosis with mobilization, anconeus interposition, and a forearm rotation assist splint. (10633900)
1999
32
Mobilization of a congenital proximal radioulnar synostosis with use of a free vascularized fascio-fat graft. (9730128)
1998
33
Operative treatment of post-traumatic proximal radioulnar synostosis. (9486731)
1998
34
Congenital radioulnar synostosis. Study of a series of 37 children and adolescents. (10855298)
1998
35
Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation. (9880222)
1998
36
Adolescent presentation of congenital radioulnar synostosis. (8665757)
1996
37
Congenital radioulnar synostosis. Surgical correction by derotational osteotomy. (8829380)
1996
38
Treatment of posttraumatic radioulnar synostosis with excision and low-dose radiation. (8349985)
1993
39
Pin-site radioulnar synostosis after external fixation of a distal radial fracture: two case reports. (8472223)
1993
40
Radioulnar synostosis in Williams-Beuren syndrome: a component manifestation. (8456863)
1993
41
Pediatric update #11. Congenital radioulnar synostosis. A new technique for derotational osteotomy. (2320384)
1990
42
Proximal radioulnar synostosis after repair of distal biceps brachii rupture by the two-incision technique. Report of four cases. (2317966)
1990
43
Congenital radioulnar synostosis. Radiological characteristics and hand function: case reports. (3252456)
1988
44
Ulnar nerve palsy following rotational osteotomy of congenital radioulnar synostosis. (3793902)
1987
45
Congenital radioulnar synostosis. (6643957)
1983
46
Familial radioulnar synostosis. (641954)
1978
47
Radioulnar synostosis and craniosynostosis in one family. (4768942)
1973
48
Radioulnar synostosis. A common occurrence in sex chromosomal abnormalities. (5567399)
1971
49
Radioulnar synostosis, behavioral disturbance, and XYY chromosomes. (5782813)
1969
50
Phocomelia with radioulnar synostosis. Report of a case with review of the literature. (5937586)
1966

Variations for Radioulnar Synostosis

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Expression for genes affiliated with Radioulnar Synostosis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Radioulnar Synostosis

Search GEO for disease gene expression data for Radioulnar Synostosis.

Pathways for genes affiliated with Radioulnar Synostosis

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51PathCards, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 61Thomson Reuters, 31KEGG, 62Tocris Bioscience, 5Cell Signaling Technology, 55R&D Systems, 52PharmGKB, 58SinoBiological
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Pathways related to Radioulnar Synostosis according to GeneCards/GeneDecks:

(show all 31)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7FGFR1, FGFR3
2
Show member pathways
9.7FGFR3, FGFR1
39.6FGFR1, FGFR2
4
Show member pathways
9.2FGFR1, FGFR2, FGFR3
5
Show member pathways
9.2FGFR2, FGFR1, FGFR3
6
Show member pathways
9.2FGFR2, FGFR3, FGFR1
7
Show member pathways
MAPK signaling pathway39
9.2FGFR2, FGFR1, FGFR3
8
Show member pathways
9.2FGFR2, FGFR1, FGFR3
9
Show member pathways
9.2FGFR2, FGFR3, FGFR1
10
Show member pathways
9.2FGFR2, FGFR1, FGFR3
11
Show member pathways
9.2FGFR2, FGFR1, FGFR3
129.2FGFR2, FGFR1, FGFR3
139.2FGFR1, FGFR2, FGFR3
149.2FGFR2, FGFR3, FGFR1
15
Show member pathways
9.2FGFR2, FGFR3, FGFR1
169.2FGFR2, FGFR1, FGFR3
17
Show member pathways
9.2FGFR1, FGFR3, FGFR2
18
Show member pathways
9.2FGFR2, FGFR3, FGFR1
19
Show member pathways
9.2FGFR2, FGFR1, FGFR3
20
Show member pathways
9.2FGFR3, FGFR2, FGFR1
21
Show member pathways
9.2FGFR3, FGFR1, FGFR2
229.2FGFR3, FGFR1, FGFR2
23
Show member pathways
9.2FGFR3, FGFR1, FGFR2
24
Show member pathways
9.2FGFR3, FGFR2, FGFR1
259.2FGFR3, FGFR1, FGFR2
26
Show member pathways
Signaling Pathways in Glioblastoma39
9.2FGFR3, FGFR1, FGFR2
27
Show member pathways
9.2FGFR3, FGFR1, FGFR2
28
Show member pathways
9.2FGFR3, FGFR1, FGFR2
29
Show member pathways
9.2FGFR3, FGFR2, FGFR1
308.9FGFR1, FGFR3, FGFR2, TWIST1
31
Show member pathways
8.7FGFR2, FGFR3, FGFR1, FGFRL1

Compounds for genes affiliated with Radioulnar Synostosis

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52PharmGKB, 12DrugBank, 62Tocris Bioscience, 46Novoseek
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Compounds related to Radioulnar Synostosis according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1pazopanib52 1210.8FGFR1, FGFR3
2regorafenib52 1210.7FGFR2, FGFR1
3su 5402629.5FGFR3, FGFR2, FGFR1
4pd 161570629.5FGFR2, FGFR1, FGFR3
5fiin 1 hydrochloride629.5FGFR2, FGFR1, FGFR3
6su5402469.5FGFR2, FGFR1, FGFR3
7pd 17307446 6210.5FGFR3, FGFR1, FGFR2
8palifermin46 1210.4FGFR2, FGFR1, FGFR3
9ponatinib52 1210.4FGFR3, FGFR1, FGFR2
10phenylalanine469.3FGFR3, FGFR1, FGFR2
11phosphotyrosine469.2FGFR3, FGFR1, FGFR2
12lysine469.2FGFR3, FGFR1, FGFR2
13paclitaxel46 52 1211.0FGFR1, FGFR2, TWIST1
14tyrosine468.3TWIST1, FGFR2, FGFRL1, FGFR1, FGFR3

GO Terms for genes affiliated with Radioulnar Synostosis

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17Gene Ontology
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Cellular components related to Radioulnar Synostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160239.1FGFR2, FGFR1, FGFR3
2integral component of plasma membraneGO:0058878.4FGFR1, FGFR2, ATRN, FGFR3
3nucleusGO:0056347.3FGFR3, HOXA11, RECQL4, TWIST1, TBX4, FGFR2

Biological processes related to Radioulnar Synostosis according to GeneCards/GeneDecks:

(show all 46)
idNameGO IDScoreTop Affiliating Genes
1outer ear morphogenesisGO:04247310.1FGFR1, TWIST1
2organ inductionGO:00175910.1FGFR1, HOXA11
3positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.1FGFR3, FGFR1
4embryonic forelimb morphogenesisGO:03511510.1TWIST1, HOXA11
5lens fiber cell developmentGO:07030710.1FGFR3, FGFR2
6negative regulation of mitosisGO:04583910.0FGFR3, FGFR2
7fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.0FGFR1, FGFR2
8ventricular zone neuroblast divisionGO:02184710.0FGFR2, FGFR1
9mesenchymal cell differentiationGO:04876210.0FGFR1, FGFR2
10lung-associated mesenchyme developmentGO:06048410.0FGFR2, FGFR1
11branching involved in salivary gland morphogenesisGO:06044510.0FGFR1, FGFR2
12embryonic cranial skeleton morphogenesisGO:04870110.0TWIST1, FGFR2
13bone morphogenesisGO:06034910.0FGFR2, FGFR3
14positive regulation of cardiac muscle cell proliferationGO:06004510.0FGFR1, FGFR2
15odontogenesisGO:04247610.0TWIST1, FGFR2
16embryonic digit morphogenesisGO:0427339.9HOXA11, TWIST1
17positive regulation of cell cycleGO:0457879.9FGFR1, FGFR2
18chondrocyte differentiationGO:0020629.9FGFR3, FGFR1
19midbrain developmentGO:0309019.9FGFR1, FGFR2
20morphogenesis of an epitheliumGO:0020099.9TBX4, FGFR3
21positive regulation of mesenchymal cell proliferationGO:0020539.8FGFR2, FGFR1
22negative regulation of epithelial cell proliferationGO:0506809.8FGFR2, FGFR3
23ureteric bud developmentGO:0016579.8FGFR1, FGFR2
24positive regulation of canonical Wnt signaling pathwayGO:0902639.7FGFR3, FGFR2
25MAPK cascadeGO:0001659.7FGFR3, FGFR1
26positive regulation of phospholipase activityGO:0105189.7FGFR3, FGFR1, FGFR2
27positive regulation of epithelial cell proliferationGO:0506799.7TWIST1, FGFR2
28positive regulation of MAPK cascadeGO:0434109.7FGFR3, FGFR1, FGFR2
29peptidyl-tyrosine phosphorylationGO:0181089.7FGFR2, FGFR1, FGFR3
30phosphatidylinositol-mediated signalingGO:0480159.6FGFR3, FGFR1, FGFR2
31insulin receptor signaling pathwayGO:0082869.6FGFR3, FGFR1, FGFR2
32protein autophosphorylationGO:0467779.6FGFR3, FGFR1, FGFR2
33Fc-epsilon receptor signaling pathwayGO:0380959.6FGFR2, FGFR1, FGFR3
34in utero embryonic developmentGO:0017019.6FGFR1, FGFR2, TWIST1
35epidermal growth factor receptor signaling pathwayGO:0071739.6FGFR3, FGFR1, FGFR2
36embryonic limb morphogenesisGO:0303269.6FGFR1, TBX4, HOXA11
37inner ear morphogenesisGO:0424729.5FGFR2, FGFR1
38regulation of multicellular organism growthGO:0400149.5FGFR2, ATRN
39neurotrophin TRK receptor signaling pathwayGO:0480119.5FGFR3, FGFR1, FGFR2
40skeletal system morphogenesisGO:0487059.4FGFR1, FGFR2, TBX4
41angiogenesisGO:0015259.3FGFR1, FGFR2, TBX4
42skeletal system developmentGO:0015019.3HOXA11, FGFRL1, FGFR1, FGFR3
43negative regulation of transcription from RNA polymerase II promoterGO:0001229.3TWIST1, FGFR2, FGFR1, FGFR3
44fibroblast growth factor receptor signaling pathwayGO:0085439.2FGFR2, FGFRL1, FGFR1, FGFR3
45multicellular organismal developmentGO:0072759.1HOXA11, ATRNL1, RECQL4, TBX4
46positive regulation of cell proliferationGO:0082848.9FGFR3, FGFR1, FGFR2

Molecular functions related to Radioulnar Synostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082019.1FGFRL1, FGFR2, FGFR1
2protein tyrosine kinase activityGO:0047138.9FGFR3, FGFR2, FGFR1
3fibroblast growth factor-activated receptor activityGO:0050078.7FGFR3, FGFR1, FGFRL1, FGFR2
4fibroblast growth factor bindingGO:0171348.6FGFR2, FGFRL1, FGFR1, FGFR3

Products for genes affiliated with Radioulnar Synostosis

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Sources for Radioulnar Synostosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet