Aliases & Classifications for Radioulnar Synostosis

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Aliases & Descriptions for Radioulnar Synostosis:

Name: Radioulnar Synostosis 10 12 65


External Ids:

Disease Ontology10 DOID:9827
SNOMED-CT59 33313004
ICD9CM29 755.53

Summaries for Radioulnar Synostosis

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MalaCards based summary: Radioulnar Synostosis is related to ladd syndrome and saethre-chotzen syndrome, and has symptoms including autosomal dominant inheritance, limited elbow extension and radioulnar synostosis. An important gene associated with Radioulnar Synostosis is LRP4 (Low Density Lipoprotein Receptor-Related Protein 4), and among its related pathways are FGF signaling pathway and Endochondral Ossification. Affiliated tissues include bone, brain and eye, and related mouse phenotypes are no phenotypic analysis and digestive/alimentary.

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 102)
idRelated DiseaseScoreTop Affiliating Genes
1ladd syndrome30.1FGFR1, FGFR2, FGFR3
2saethre-chotzen syndrome29.8FGFR1, FGFR2, FGFR3, RECQL4
3synostosis11.2
4radioulnar synostosis with amegakaryocytic thrombocytopenia10.7
5craniosynostosis - hydrocephalus - arnold-chiari malformation type i - radioulnar synostosis10.6
6acrofacial dysostosis 1, nager type10.5
7jorgenson lenz syndrome10.5
8radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation10.5
9williams-beuren syndrome10.5
10nievergelt syndrome10.5
11radioulnar synostosis retinal pigment abnormalities10.5
12genitopatellar syndrome10.4
13marden-walker syndrome10.4
14ivic syndrome10.4
15abruzzo-erickson syndrome10.4
16microcephaly10.4
17tetrasomy x10.4
183mc syndrome 210.3
193mc syndrome 110.3
20roberts syndrome10.3
21cenani-lenz syndactyly syndrome10.3
22noonan syndrome 110.3
23holt-oram syndrome10.3
24desbuquois dysplasia 110.3
25microphthalmia, syndromic 210.3
26craniosynostosis10.3
27blepharophimosis10.3
28cornelia de lange syndrome10.3
293mc syndrome10.3
30ptosis10.3
3149, xxxxx10.3
3248,xxxy syndrome10.3
3348,xxyy syndrome10.3
3449,xxxxy syndrome10.3
35al gazali syndrome10.3
36congenital radio-ulnar synostosis10.3
37humeroradioulnar synostosis10.3
38juberg-hayward syndrome10.3
39phaver syndrome10.3
40synostosis - microcephaly - scoliosis10.3
41progressive non-infectious anterior vertebral fusion10.3
42wolf-hirschhorn syndrome10.2
43ehlers-danlos syndrome, progeroid type, 110.2
44antley-bixler syndrome with genital anomalies and disordered steroidogenesis10.2
45multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects10.2
46temtamy preaxial brachydactyly syndrome10.2
47ayme-gripp syndrome10.2
48schinzel-giedion midface retraction syndrome10.2
49miller syndrome10.2
50hydrocephalus10.2

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



Diseases related to radioulnar synostosis

Symptoms for Radioulnar Synostosis

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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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Cancer in Inherited Bone Marrow Failure SyndromesRecruitingNCT00027274

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:

33
Bone, Brain, Eye, Bone marrow

Animal Models for Radioulnar Synostosis or affiliated genes

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MGI Mouse Phenotypes related to Radioulnar Synostosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.4FGFR1, FGFR2, FGFR3, HOXA11
2MP:00053818.2FGFR1, FGFR2, FGFR3, RECQL4
3MP:00053827.9FGFR1, FGFR2, FGFR3, LRP4, RECQL4
4MP:00053677.9FGFR1, FGFR2, FGFR3, HOXA11, LRP4
5MP:00107717.7FGFR1, FGFR2, FGFR3, LRP4, RECQL4
6MP:00053907.5FGFR1, FGFR2, FGFR3, HOXA11, LRP4, RECQL4
7MP:00053717.5FGFR1, FGFR2, FGFR3, HOXA11, LRP4, RECQL4
8MP:00107687.3FGFR1, FGFR2, FGFR3, HOXA11, LRP4, RECQL4

Publications for Radioulnar Synostosis

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Articles related to Radioulnar Synostosis:

(show top 50)    (show all 102)
idTitleAuthorsYear
1
One-stage rotational osteotomy for congenital radioulnar synostosis. (25827142)
2015
2
Safety and Efficacy of Derotational Osteotomy for Congenital Radioulnar Synostosis. (26322649)
2015
3
Case report: lateral capsular release for acute extension deficit in a child with congenital radioulnar synostosis. (25411938)
2015
4
Malpositioned olecranon fracture tension-band wiring results in proximal radioulnar synostosis. (26514829)
2015
5
Proximal radial diaphyseal segment resection for posttraumatic proximal radioulnar synostosis: a prospective study of 15 cases. (24768222)
2014
6
Outcomes of anconeus interposition for proximal radioulnar synostosis. (25304042)
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
Management of posttraumatic radioulnar synostosis. (22751164)
2012
11
Preventing recurrence of radioulnar synostosis with pedicled adipofascial flaps. (21987272)
2012
12
Long-term follow-up of microvascular free tissue transfer for mobilization of congenital radioulnar synostosis. (22999592)
2012
13
Congenital radioulnar synostosis - case report. (22802806)
2010
14
Painful snapping elbow in patients with congenital radioulnar synostosis: report of two cases. (20684930)
2010
15
The developmental spectrum of proximal radioulnar synostosis. (19669136)
2010
16
Three-dimensional motion analysis of compensatory movements in patients with radioulnar synostosis performing activities of daily living. (19499298)
2009
17
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. (19022412)
2009
18
Derotational osteotomy of the proximal radius and the distal ulna for congenital radioulnar synostosis. (19308546)
2008
19
Management of posttraumatic metadiaphyseal radioulnar synostosis. (17548013)
2007
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
Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis. (16681404)
2006
23
Bilateral aplasia of the thumb, proximal radioulnar synostosis and unilateral synostosis of metacarpals 4 and 5. (15083702)
2004
24
Posttraumatic radioulnar synostosis treated with a free vascularized fat transplant and dynamic splint: a report of two cases. (14676558)
2004
25
Congenital radioulnar synostosis: a case report of a probable subtype. (15168190)
2004
26
Posttraumatic distal radioulnar synostosis and distal radial epiphyseal arrest. (11881314)
2002
27
Proximal radial resection for posttraumatic radioulnar synostosis: a new technique to improve forearm rotation. (12004015)
2002
28
Distal radioulnar synostosis following K-wire fixation. (11199355)
2001
29
Proximal radioulnar synostosis treated with a free vascularised fascio-fat graft--report of two cases. (11301511)
2000
30
Proximal radioulnar synostosis. (11057491)
2000
31
Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome? (10706353)
2000
32
Radioulnar synostosis and XYY syndrome. (10649807)
2000
33
Management of radioulnar synostosis with mobilization, anconeus interposition, and a forearm rotation assist splint. (10633900)
1999
34
Mobilization of a congenital proximal radioulnar synostosis with use of a free vascularized fascio-fat graft. (9730128)
1998
35
Operative treatment of post-traumatic proximal radioulnar synostosis. (9486731)
1998
36
Congenital radioulnar synostosis. Study of a series of 37 children and adolescents. (10855298)
1998
37
Adolescent presentation of congenital radioulnar synostosis. (8665757)
1996
38
Congenital radioulnar synostosis. Surgical correction by derotational osteotomy. (8829380)
1996
39
Treatment of posttraumatic radioulnar synostosis with excision and low-dose radiation. (8349985)
1993
40
Pin-site radioulnar synostosis after external fixation of a distal radial fracture: two case reports. (8472223)
1993
41
Radioulnar synostosis in Williams-Beuren syndrome: a component manifestation. (8456863)
1993
42
Pediatric update #11. Congenital radioulnar synostosis. A new technique for derotational osteotomy. (2320384)
1990
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 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3FGFR1, FGFR2
29.0FGFR1, FGFR3
3
Show member pathways
8.5FGFR1, FGFR2, FGFR3
4
Show member pathways
8.5FGFR1, FGFR2, FGFR3
5
Show member pathways
8.5FGFR1, FGFR2, FGFR3
6
Show member pathways
8.5FGFR1, FGFR2, FGFR3
78.5FGFR1, FGFR2, FGFR3
8
Show member pathways
8.5FGFR1, FGFR2, FGFR3
98.5FGFR1, FGFR2, FGFR3
10
Show member pathways
8.5FGFR1, FGFR2, FGFR3
11
Show member pathways
8.5FGFR1, FGFR2, FGFR3
128.5FGFR1, FGFR2, FGFR3
13
Angiogenesis (CST)
Show member pathways
8.5FGFR1, FGFR2, FGFR3
148.5FGFR1, FGFR2, FGFR3
158.5FGFR1, FGFR2, FGFR3
168.5FGFR1, FGFR2, FGFR3
17
Show member pathways
8.5FGFR1, FGFR2, FGFR3
188.5FGFR1, FGFR2, FGFR3
19
Show member pathways
8.5FGFR1, FGFR2, FGFR3
208.5FGFR1, FGFR2, FGFR3
21
Show member pathways
8.5FGFR1, FGFR2, FGFR3
228.5FGFR1, FGFR2, FGFR3

GO Terms for genes affiliated with Radioulnar Synostosis

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

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1dorsal/ventral pattern formationGO:000995310.3HOXA11, LRP4
2embryonic digit morphogenesisGO:004273310.2HOXA11, LRP4
3proximal/distal pattern formationGO:000995410.1HOXA11, LRP4
4organ inductionGO:000175910.1FGFR1, HOXA11
5orbitofrontal cortex developmentGO:002176910.0FGFR1, FGFR2
6ventricular zone neuroblast divisionGO:002184710.0FGFR1, FGFR2
7fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.0FGFR1, FGFR2
8positive regulation of mesenchymal cell proliferationGO:000205310.0FGFR1, FGFR2
9positive regulation of cardiac muscle cell proliferationGO:006004510.0FGFR1, FGFR2
10midbrain developmentGO:00309019.9FGFR1, FGFR2
11lung-associated mesenchyme developmentGO:00604849.9FGFR1, FGFR2
12positive regulation of cell cycleGO:00457879.9FGFR1, FGFR2
13mesenchymal cell differentiationGO:00487629.9FGFR1, FGFR2
14branching involved in salivary gland morphogenesisGO:00604459.9FGFR1, FGFR2
15ureteric bud developmentGO:00016579.8FGFR1, FGFR2
16positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:00900809.7FGFR1, FGFR3
17lens fiber cell developmentGO:00703079.7FGFR2, FGFR3
18negative regulation of mitotic nuclear divisionGO:00458399.7FGFR2, FGFR3
19bone morphogenesisGO:00603499.6FGFR2, FGFR3
20embryonic limb morphogenesisGO:00303269.5FGFR1, HOXA11, LRP4
21bone mineralizationGO:00302829.4FGFR2, FGFR3
22inner ear morphogenesisGO:00424729.4FGFR1, FGFR2
23skeletal system morphogenesisGO:00487059.3FGFR1, FGFR2
24chondrocyte differentiationGO:00020629.1FGFR1, FGFR3
25positive regulation of MAPK cascadeGO:00434109.0FGFR1, FGFR2, FGFR3
26phosphatidylinositol-mediated signalingGO:00480159.0FGFR1, FGFR2, FGFR3
27positive regulation of phospholipase activityGO:00105189.0FGFR1, FGFR2, FGFR3
28protein autophosphorylationGO:00467778.9FGFR1, FGFR2, FGFR3
29peptidyl-tyrosine phosphorylationGO:00181088.8FGFR1, FGFR2, FGFR3
30MAPK cascadeGO:00001658.8FGFR1, FGFR2, FGFR3
31activation of MAPKK activityGO:00001868.8FGFR1, FGFR2, FGFR3
32Ras protein signal transductionGO:00072658.8FGFR1, FGFR2, FGFR3
33insulin receptor signaling pathwayGO:00082868.8FGFR1, FGFR2, FGFR3
34fibroblast growth factor receptor signaling pathwayGO:00085438.8FGFR1, FGFR2, FGFR3
35Fc-epsilon receptor signaling pathwayGO:00380958.7FGFR1, FGFR2, FGFR3
36neurotrophin TRK receptor signaling pathwayGO:00480118.7FGFR1, FGFR2, FGFR3
37skeletal system developmentGO:00015018.5FGFR1, FGFR3, HOXA11
38vascular endothelial growth factor receptor signaling pathwayGO:00480108.5FGFR1, FGFR2, FGFR3
39epidermal growth factor receptor signaling pathwayGO:00071738.2FGFR1, FGFR2, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050078.9FGFR1, FGFR2, FGFR3
2fibroblast growth factor bindingGO:00171348.9FGFR1, FGFR2, FGFR3
3protein tyrosine kinase activityGO:00047138.5FGFR1, FGFR2, FGFR3

Sources for Radioulnar Synostosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet