Aliases & Classifications for Radioulnar Synostosis

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Radioulnar Synostosis, Aliases & Descriptions:

Name: Radioulnar Synostosis 9 11 60


External Ids:

Disease Ontology9 DOID:9827
SNOMED-CT55 33313004
ICD9CM27 755.53

Summaries for Radioulnar Synostosis

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MalaCards based summary: Radioulnar Synostosis is related to synostosis and ladd syndrome, and has symptoms including autosomal dominant inheritance, limited elbow extension and radioulnar synostosis. 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.

Related Diseases for Radioulnar Synostosis

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

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1synostosis31.3HOXA11, RECQL4, TWIST1, FGFR2, FGFR1, FGFR3
2ladd syndrome30.8FGFR3, FGFR2
3antley-bixler syndrome30.8FGFR2
4craniosynostosis30.2RECQL4, TWIST1, FGFR2, FGFR1, FGFR3
5saethre-chotzen syndrome30.2FGFR3, FGFR1, FGFR2, TWIST1
6radioulnar synostosis with amegakaryocytic thrombocytopenia10.6
7radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation10.6
8ascher's syndrome10.6
9craniosynostosis - hydrocephalus - arnold-chiari malformation type i - radioulnar synostosis10.6
10acrofacial dysostosis 1, nager type10.5
11williams-beuren syndrome10.5
12nievergelt syndrome10.5
13radioulnar synostosis retinal pigment abnormalities10.5
14osteoglophonic dysplasia10.4FGFR1
15genitopatellar syndrome10.4
16marden-walker syndrome10.4
17ivic syndrome10.4
18abruzzo-erickson syndrome10.4
19tetrasomy x10.4
20beare-stevenson cutis gyrata syndrome10.4FGFR2
21osteochondroma10.4FGFR3
223mc syndrome 210.3
233mc syndrome 110.3
24roberts syndrome10.3
25cenani-lenz syndactyly syndrome10.3
26noonan syndrome 110.3
27holt-oram syndrome10.3
28desbuquois dysplasia10.3
29microcephaly10.3
30cornelia de lange syndrome10.3
31blepharophimosis10.3
323mc syndrome10.3
33ptosis10.3
3449, xxxxx10.3
3548,xxxy syndrome10.3
3648,xxyy syndrome10.3
3749,xxxxy syndrome10.3
38acrofacial dysostosis rodriguez type10.3
39al gazali syndrome10.3
40congenital radio-ulnar synostosis10.3
41femoral facial syndrome10.3
42juberg-hayward syndrome10.3
43oslam syndrome10.3
44phaver syndrome10.3
45pillay syndrome10.3
46ramer ladda syndrome10.3
47radio-ulnar synostosis - intellectual disability - hypotonia10.3
48progressive non-infectious anterior vertebral fusion10.3
49baller-gerold syndrome10.3RECQL4, TWIST1
50achondroplasia10.3FGFR2, FGFR3

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



Diseases related to radioulnar synostosis

Symptoms for Radioulnar Synostosis

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HPO human phenotypes related to Radioulnar Synostosis:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 limited elbow extension HP:0001377
3 radioulnar synostosis HP:0002974
4 dislocated radial head HP:0003083

Drugs & Therapeutics for Radioulnar Synostosis

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Drug clinical trials:

Search ClinicalTrials for Radioulnar Synostosis

Search NIH Clinical Center for Radioulnar Synostosis

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:

31
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 99)
idTitleAuthorsYear
1
One-stage rotational osteotomy for congenital radioulnar synostosis. (25827142)
2015
2
Adipofascial radial artery perforator flap interposition to treat post-traumatic radioulnar synostosis in a patient with head injury. (25725026)
2015
3
Case report: lateral capsular release for acute extension deficit in a child with congenital radioulnar synostosis. (25411938)
2015
4
Proximal radial diaphyseal segment resection for posttraumatic proximal radioulnar synostosis: a prospective study of 15 cases. (24768222)
2014
5
Outcomes of anconeus interposition for proximal radioulnar synostosis. (25304042)
2014
6
An iatrogenic proximal radioulnar synostosis: a case report and review of literature. (25471438)
2014
7
Modified osteotomy (Kanaya's procedure) for congenital proximal radioulnar synostosis with posterior dislocation of radial head. (23821677)
2013
8
Gradual correction of congenital radioulnar synostosis by an osteotomy and Ilizarov external fixation. (23290465)
2013
9
Treatment of blocked elbow flexion in congenital radioulnar synostosis with radial head excision: a case series. (23752153)
2013
10
Preventing recurrence of radioulnar synostosis with pedicled adipofascial flaps. (21987272)
2012
11
Long-term follow-up of microvascular free tissue transfer for mobilization of congenital radioulnar synostosis. (22999592)
2012
12
Congenital radioulnar synostosis - case report. (22802806)
2010
13
Painful snapping elbow in patients with congenital radioulnar synostosis: report of two cases. (20684930)
2010
14
The developmental spectrum of proximal radioulnar synostosis. (19669136)
2010
15
Three-dimensional motion analysis of compensatory movements in patients with radioulnar synostosis performing activities of daily living. (19499298)
2009
16
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. (19022412)
2009
17
Derotational osteotomy of the proximal radius and the distal ulna for congenital radioulnar synostosis. (19308546)
2008
18
Management of posttraumatic metadiaphyseal radioulnar synostosis. (17548013)
2007
19
A comparison of proximal radioulnar synostosis excision after trauma and distal biceps reattachment. (17629506)
2007
20
Heterotopic ossification causing proximal radioulnar synostosis after insertion of a radial head prosthesis. (16753242)
2006
21
Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis. (16681404)
2006
22
Bilateral aplasia of the thumb, proximal radioulnar synostosis and unilateral synostosis of metacarpals 4 and 5. (15083702)
2004
23
Posttraumatic radioulnar synostosis treated with a free vascularized fat transplant and dynamic splint: a report of two cases. (14676558)
2004
24
Congenital radioulnar synostosis: a case report of a probable subtype. (15168190)
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 treated with a free vascularised fascio-fat graft--report of two cases. (11301511)
2000
29
Proximal radioulnar synostosis. (11057491)
2000
30
Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome? (10706353)
2000
31
Radioulnar synostosis and XYY syndrome. (10649807)
2000
32
Management of radioulnar synostosis with mobilization, anconeus interposition, and a forearm rotation assist splint. (10633900)
1999
33
Mobilization of a congenital proximal radioulnar synostosis with use of a free vascularized fascio-fat graft. (9730128)
1998
34
Operative treatment of post-traumatic proximal radioulnar synostosis. (9486731)
1998
35
Congenital radioulnar synostosis. Study of a series of 37 children and adolescents. (10855298)
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
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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Search GEO for disease gene expression data for Radioulnar Synostosis.

Pathways for genes affiliated with Radioulnar Synostosis

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Pathways related to Radioulnar Synostosis according to GeneCards Suite gene sharing:

(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 Glioblastoma36
9.2FGFR2, FGFR1, FGFR3
6
Show member pathways
MAPK signaling pathway36
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 Suite gene sharing:

(show all 14)
idCompoundScoreTop Affiliating Genes
1pazopanib49 1210.8FGFR1, FGFR3
2regorafenib49 1210.7FGFR2, FGFR1
3su 5402599.5FGFR3, FGFR2, FGFR1
4pd 161570599.5FGFR2, FGFR1, FGFR3
5fiin 1 hydrochloride599.5FGFR2, FGFR1, FGFR3
6su5402439.5FGFR2, FGFR1, FGFR3
7pd 17307443 5910.5FGFR3, FGFR1, FGFR2
8palifermin43 1210.4FGFR2, FGFR1, FGFR3
9ponatinib49 1210.4FGFR3, FGFR1, FGFR2
10phenylalanine439.3FGFR3, FGFR1, FGFR2
11phosphotyrosine439.2FGFR3, FGFR1, FGFR2
12lysine439.2FGFR3, FGFR1, FGFR2
13paclitaxel43 49 1211.0FGFR1, FGFR2, TWIST1
14tyrosine438.3TWIST1, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:00160239.1FGFR3, FGFR1, FGFR2
2integral component of plasma membraneGO:00058878.4FGFR3, FGFR1, FGFR2, ATRN
3nucleusGO:00056347.3HOXA11, RECQL4, TWIST1, TBX4, FGFR2, FGFR1

Biological processes related to Radioulnar Synostosis according to GeneCards Suite gene sharing:

(show all 46)
idNameGO IDScoreTop Affiliating Genes
1outer ear morphogenesisGO:004247310.1FGFR1, TWIST1
2organ inductionGO:000175910.1FGFR1, HOXA11
3positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.1FGFR3, FGFR1
4embryonic forelimb morphogenesisGO:003511510.1TWIST1, HOXA11
5lens fiber cell developmentGO:007030710.1FGFR3, FGFR2
6negative regulation of mitosisGO:004583910.0FGFR3, FGFR2
7fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.0FGFR1, FGFR2
8ventricular zone neuroblast divisionGO:002184710.0FGFR2, FGFR1
9mesenchymal cell differentiationGO:004876210.0FGFR1, FGFR2
10lung-associated mesenchyme developmentGO:006048410.0FGFR2, FGFR1
11branching involved in salivary gland morphogenesisGO:006044510.0FGFR1, FGFR2
12embryonic cranial skeleton morphogenesisGO:004870110.0TWIST1, FGFR2
13bone morphogenesisGO:006034910.0FGFR2, FGFR3
14positive regulation of cardiac muscle cell proliferationGO:006004510.0FGFR1, FGFR2
15odontogenesisGO:004247610.0TWIST1, FGFR2
16embryonic digit morphogenesisGO:00427339.9HOXA11, TWIST1
17positive regulation of cell cycleGO:00457879.9FGFR1, FGFR2
18chondrocyte differentiationGO:00020629.9FGFR3, FGFR1
19midbrain developmentGO:00309019.9FGFR1, FGFR2
20morphogenesis of an epitheliumGO:00020099.9TBX4, FGFR3
21positive regulation of mesenchymal cell proliferationGO:00020539.8FGFR2, FGFR1
22negative regulation of epithelial cell proliferationGO:00506809.8FGFR2, FGFR3
23ureteric bud developmentGO:00016579.8FGFR1, FGFR2
24positive regulation of canonical Wnt signaling pathwayGO:00902639.7FGFR3, FGFR2
25MAPK cascadeGO:00001659.7FGFR3, FGFR1
26positive regulation of phospholipase activityGO:00105189.7FGFR3, FGFR1, FGFR2
27positive regulation of epithelial cell proliferationGO:00506799.7TWIST1, FGFR2
28positive regulation of MAPK cascadeGO:00434109.7FGFR3, FGFR1, FGFR2
29peptidyl-tyrosine phosphorylationGO:00181089.7FGFR2, FGFR1, FGFR3
30phosphatidylinositol-mediated signalingGO:00480159.6FGFR3, FGFR1, FGFR2
31insulin receptor signaling pathwayGO:00082869.6FGFR3, FGFR1, FGFR2
32protein autophosphorylationGO:00467779.6FGFR3, FGFR1, FGFR2
33Fc-epsilon receptor signaling pathwayGO:00380959.6FGFR2, FGFR1, FGFR3
34in utero embryonic developmentGO:00017019.6FGFR1, FGFR2, TWIST1
35epidermal growth factor receptor signaling pathwayGO:00071739.6FGFR3, FGFR1, FGFR2
36embryonic limb morphogenesisGO:00303269.6FGFR1, TBX4, HOXA11
37inner ear morphogenesisGO:00424729.5FGFR2, FGFR1
38regulation of multicellular organism growthGO:00400149.5FGFR2, ATRN
39neurotrophin TRK receptor signaling pathwayGO:00480119.5FGFR3, FGFR1, FGFR2
40skeletal system morphogenesisGO:00487059.4FGFR1, FGFR2, TBX4
41angiogenesisGO:00015259.3FGFR1, FGFR2, TBX4
42skeletal system developmentGO:00015019.3HOXA11, FGFRL1, FGFR1, FGFR3
43negative regulation of transcription from RNA polymerase II promoterGO:00001229.3TWIST1, FGFR2, FGFR1, FGFR3
44fibroblast growth factor receptor signaling pathwayGO:00085439.2FGFR2, FGFRL1, FGFR1, FGFR3
45multicellular organismal developmentGO:00072759.1HOXA11, ATRNL1, RECQL4, TBX4
46positive regulation of cell proliferationGO:00082848.9FGFR3, FGFR1, FGFR2

Molecular functions related to Radioulnar Synostosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:00082019.1FGFR1, FGFRL1, FGFR2
2protein tyrosine kinase activityGO:00047138.9FGFR3, FGFR1, FGFR2
3fibroblast growth factor-activated receptor activityGO:00050078.7FGFR3, FGFR1, FGFRL1, FGFR2
4fibroblast growth factor bindingGO:00171348.6FGFR2, FGFRL1, FGFR1, FGFR3

Products for genes affiliated with Radioulnar Synostosis

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Sources for Radioulnar Synostosis

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