MCID: RDL002
MIFTS: 44

Radioulnar Synostosis malady

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Summaries for Radioulnar Synostosis

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MalaCards based summary: Radioulnar Synostosis is related to synostosis and antley-bixler syndrome. 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, bone and brain, and related mouse phenotypes are renal/urinary system and vision/eye.

Description from OMIM:46 179300

Aliases & Classifications for Radioulnar Synostosis

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Radioulnar Synostosis, Aliases & Descriptions:

Name: Radioulnar Synostosis 8 10 62


External Ids:

Disease Ontology8 DOID:9827
ICD9CM27 755.53
SNOMED-CT57 33313004
OMIM46 179300

Related Diseases for Radioulnar Synostosis

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

(show top 50)    (show all 87)
idRelated DiseaseScoreTop Affiliating Genes
1synostosis31.3RECQL4, HOXA11, FGFR3, FGFR1, FGFR2, TWIST1
2antley-bixler syndrome30.8FGFR2
3ladd syndrome30.6FGFR2, FGFR3
4craniosynostosis30.2FGFR2, TWIST1, RECQL4, FGFR3, FGFR1
5saethre-chotzen syndrome30.2FGFR2, FGFR3, FGFR1, TWIST1
6jorgenson lenz syndrome10.5
7radioulnar synostosis with amegakaryocytic thrombocytopenia10.5
8craniosynostosis - hydrocephalus - arnold-chiari malformation type i - radioulnar synostosis10.5
9osteoglophonic dysplasia10.5FGFR1
10microcephaly10.4
11radioulnar synostosis retinal pigment abnormalities10.4
12radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation10.4
13short stature10.4
14beare-stevenson cutis gyrata syndrome10.4FGFR2
15osteochondroma10.4FGFR3
16williams-beuren syndrome10.3
17blepharophimosis10.3
18williams syndrome10.3
19congenital radio-ulnar synostosis10.3
20nager acrofacial dysostosis10.3
21nievergelt syndrome10.3
22tetrasomy x10.3
23baller-gerold syndrome10.3TWIST1, RECQL4
24achondroplasia10.3FGFR3, FGFR2
25clubfoot10.2TBX4
26infectious mononucleosis10.2FGFR2, FGFR1
27strabismus10.2FGFR3, FGFR2
28thanatophoric dysplasia10.2FGFR2, FGFR3
29hydrocephalus10.2
30azoospermia10.2
31myositis ossificans10.2
32roberts syndrome10.2
33sensorineural hearing loss10.2
34esophageal atresia10.2
35esophagitis10.2
36myositis10.2
3749, xxxxx10.2
38holt-oram syndrome10.2
3948,xxxy syndrome10.2
4048,xxyy syndrome10.2
4149,xxxxy syndrome10.2
42abruzzo erickson syndrome10.2
43acrofacial dysostosis rodriguez type10.2
44al gazali syndrome10.2
45desbuquois syndrome10.2
46femoral facial syndrome10.2
47genitopatellar syndrome10.2
48humeroradioulnar synostosis10.2
49ivic syndrome10.2
50juberg-hayward 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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Clinical features from OMIM:

179300

Drugs & Therapeutics for Radioulnar Synostosis

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Drug clinical trials:

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Genetic Tests for Radioulnar Synostosis

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Anatomical Context for Radioulnar Synostosis

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MalaCards organs/tissues related to Radioulnar Synostosis:

32
Eye, Bone, Brain

Animal Models for Radioulnar Synostosis or affiliated genes

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Publications for Radioulnar Synostosis

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Articles related to Radioulnar Synostosis:

(show top 50)    (show all 94)
idTitleAuthorsYear
1
Proximal radial diaphyseal segment resection for posttraumatic proximal radioulnar synostosis: a prospective study of 15 cases. (24768222)
2014
2
Outcomes of anconeus interposition for proximal radioulnar synostosis. (25304042)
2014
3
Modified osteotomy (Kanaya's procedure) for congenital proximal radioulnar synostosis with posterior dislocation of radial head. (23821677)
2013
4
Gradual correction of congenital radioulnar synostosis by an osteotomy and Ilizarov external fixation. (23290465)
2013
5
Treatment of blocked elbow flexion in congenital radioulnar synostosis with radial head excision: a case series. (23752153)
2013
6
Management of posttraumatic radioulnar synostosis. (22751164)
2012
7
Preventing recurrence of radioulnar synostosis with pedicled adipofascial flaps. (21987272)
2012
8
Long-term follow-up of microvascular free tissue transfer for mobilization of congenital radioulnar synostosis. (22999592)
2012
9
Congenital radioulnar synostosis - case report. (22802806)
2010
10
Painful snapping elbow in patients with congenital radioulnar synostosis: report of two cases. (20684930)
2010
11
The developmental spectrum of proximal radioulnar synostosis. (19669136)
2010
12
Three-dimensional motion analysis of compensatory movements in patients with radioulnar synostosis performing activities of daily living. (19499298)
2009
13
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. (19022412)
2009
14
Derotational osteotomy of the proximal radius and the distal ulna for congenital radioulnar synostosis. (19308546)
2008
15
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
16
Management of posttraumatic metadiaphyseal radioulnar synostosis. (17548013)
2007
17
A comparison of proximal radioulnar synostosis excision after trauma and distal biceps reattachment. (17629506)
2007
18
Heterotopic ossification causing proximal radioulnar synostosis after insertion of a radial head prosthesis. (16753242)
2006
19
Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis. (16681404)
2006
20
In vivo three-dimensional motion analysis of the forearm with radioulnar synostosis treated by the Kanaya procedure. (16602108)
2006
21
Bilateral aplasia of the thumb, proximal radioulnar synostosis and unilateral synostosis of metacarpals 4 and 5. (15083702)
2004
22
Posttraumatic radioulnar synostosis treated with a free vascularized fat transplant and dynamic splint: a report of two cases. (14676558)
2004
23
Congenital radioulnar synostosis: a case report of a probable subtype. (15168190)
2004
24
Nursemaid elbow revisited and a review of congenital radioulnar synostosis. (15537970)
2004
25
Posttraumatic distal radioulnar synostosis and distal radial epiphyseal arrest. (11881314)
2002
26
Proximal radial resection for posttraumatic radioulnar synostosis: a new technique to improve forearm rotation. (12004015)
2002
27
Distal radioulnar synostosis following K-wire fixation. (11199355)
2001
28
Proximal radioulnar synostosis. (11057491)
2000
29
Radioulnar synostosis and XYY syndrome. (10649807)
2000
30
Management of radioulnar synostosis with mobilization, anconeus interposition, and a forearm rotation assist splint. (10633900)
1999
31
Mobilization of a congenital proximal radioulnar synostosis with use of a free vascularized fascio-fat graft. (9730128)
1998
32
Operative treatment of post-traumatic proximal radioulnar synostosis. (9486731)
1998
33
Congenital radioulnar synostosis. Study of a series of 37 children and adolescents. (10855298)
1998
34
Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation. (9880222)
1998
35
Adolescent presentation of congenital radioulnar synostosis. (8665757)
1996
36
Congenital radioulnar synostosis. Surgical correction by derotational osteotomy. (8829380)
1996
37
Treatment of posttraumatic radioulnar synostosis with excision and low-dose radiation. (8349985)
1993
38
Pin-site radioulnar synostosis after external fixation of a distal radial fracture: two case reports. (8472223)
1993
39
Radioulnar synostosis in Williams-Beuren syndrome: a component manifestation. (8456863)
1993
40
Pediatric update #11. Congenital radioulnar synostosis. A new technique for derotational osteotomy. (2320384)
1990
41
Proximal radioulnar synostosis after repair of distal biceps brachii rupture by the two-incision technique. Report of four cases. (2317966)
1990
42
Congenital radioulnar synostosis. Radiological characteristics and hand function: case reports. (3252456)
1988
43
Ulnar nerve palsy following rotational osteotomy of congenital radioulnar synostosis. (3793902)
1987
44
Congenital radioulnar synostosis. (6643957)
1983
45
Familial radioulnar synostosis. (641954)
1978
46
B--microcephaly, short stature, radioulnar synostosis and ptosis. (4469983)
1974
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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Expression patterns in normal tissues for genes affiliated with Radioulnar Synostosis

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Pathways for genes affiliated with Radioulnar Synostosis

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Pathways related to Radioulnar Synostosis according to GeneCards/GeneDecks:

(show all 31)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7FGFR3, FGFR1
2
Show member pathways
9.7FGFR3, FGFR1
39.6FGFR1, FGFR2
4
Show member pathways
9.2FGFR2, FGFR1, FGFR3
5
Show member pathways
Signaling Pathways in Glioblastoma37
9.2FGFR2, FGFR1, FGFR3
6
Show member pathways
MAPK signaling pathway37
9.2FGFR2, FGFR1, FGFR3
79.2FGFR2, FGFR1, FGFR3
8
Show member pathways
9.2FGFR2, FGFR1, FGFR3
9
Show member pathways
9.2FGFR2, FGFR1, FGFR3
10
Show member pathways
9.2FGFR2, FGFR1, FGFR3
11
Show member pathways
9.2FGFR2, FGFR1, FGFR3
12
Show member pathways
9.2FGFR2, FGFR1, FGFR3
139.2FGFR2, FGFR1, FGFR3
14
Show member pathways
9.2FGFR2, FGFR1, FGFR3
15
Show member pathways
9.2FGFR2, FGFR1, FGFR3
16
Show member pathways
9.2FGFR2, FGFR1, FGFR3
17
Show member pathways
9.2FGFR3, FGFR1, FGFR2
189.2FGFR3, FGFR1, FGFR2
19
Show member pathways
9.2FGFR3, FGFR1, FGFR2
20
Show member pathways
9.2FGFR3, FGFR1, FGFR2
21
Show member pathways
9.2FGFR3, FGFR1, FGFR2
229.2FGFR3, FGFR1, FGFR2
239.2FGFR3, FGFR1, FGFR2
24
Show member pathways
9.2FGFR3, FGFR1, FGFR2
25
Show member pathways
9.2FGFR3, FGFR1, FGFR2
26
Show member pathways
9.2FGFR3, FGFR1, FGFR2
279.2FGFR3, FGFR1, FGFR2
28
Show member pathways
9.2FGFR3, FGFR1, FGFR2
29
Show member pathways
9.2FGFR3, FGFR1, FGFR2
308.9TWIST1, FGFR2, FGFR1, FGFR3
31
Show member pathways
8.7FGFR3, FGFR1, FGFRL1, FGFR2

Compounds for genes affiliated with Radioulnar Synostosis

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Compounds related to Radioulnar Synostosis according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1pazopanib50 1110.8FGFR1, FGFR3
2regorafenib50 1110.7FGFR2, FGFR1
3su 5402619.5FGFR3, FGFR2, FGFR1
4pd 161570619.5FGFR2, FGFR1, FGFR3
5fiin 1 hydrochloride619.5FGFR2, FGFR1, FGFR3
6su5402449.5FGFR2, FGFR1, FGFR3
7pd 17307444 6110.5FGFR3, FGFR1, FGFR2
8palifermin44 1110.4FGFR2, FGFR1, FGFR3
9ponatinib50 1110.4FGFR3, FGFR1, FGFR2
10phenylalanine449.3FGFR3, FGFR1, FGFR2
11phosphotyrosine449.2FGFR3, FGFR1, FGFR2
12lysine449.2FGFR3, FGFR1, FGFR2
13paclitaxel44 50 1111.0FGFR1, FGFR2, TWIST1
14tyrosine448.3TWIST1, FGFR2, FGFRL1, FGFR1, FGFR3

GO Terms for genes affiliated with Radioulnar Synostosis

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Cellular components related to Radioulnar Synostosis according to GeneCards/GeneDecks:

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

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:0082019.1FGFR1, FGFRL1, FGFR2
2protein tyrosine kinase activityGO:0047138.9FGFR3, FGFR1, FGFR2
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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3CDC
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