Aliases & Classifications for Radioulnar Synostosis

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Aliases & Descriptions for Radioulnar Synostosis:

Name: Radioulnar Synostosis 10 12 65

Characteristics:



Classifications:



External Ids:

Disease Ontology10 DOID:9827
ICD1027 Q74.0
SNOMED-CT59 33313004
ICD9CM29 755.53
MeSH36 C562408
UMLS65 C0158761

Summaries for Radioulnar Synostosis

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MalaCards based summary: Radioulnar Synostosis is related to acrofacial dysostosis 1, nager type and radioulnar synostosis with amegakaryocytic thrombocytopenia, and has symptoms including dislocated radial head, radioulnar synostosis and limited elbow extension. An important gene associated with Radioulnar Synostosis is HOXA11 (Homeobox A11). Affiliated tissues include bone, endothelial and bone marrow, and related mouse phenotypes are renal/urinary system and limbs/digits/tail.

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 all 42)
idRelated DiseaseScoreTop Affiliating Genes
1acrofacial dysostosis 1, nager type30.4EFTUD2, SF3B4
2radioulnar synostosis with amegakaryocytic thrombocytopenia12.5
3radioulnar synostosis retinal pigment abnormalities12.1
4radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation12.1
5craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome12.1
6radioulnar synostosis-microcephaly-scoliosis syndrome12.1
7radioulnar synostosis-developmental delay-hypotonia syndrome12.1
8congenital radio-ulnar synostosis11.3
9jorgenson lenz syndrome11.3
10nievergelt syndrome11.1
11synostosis11.0
123mc syndrome10.7
13microcephaly10.3
14craniosynostosis10.2
15ptosis10.2
16blepharophimosis10.2
173mc syndrome 210.1
183mc syndrome 110.1
19cenani-lenz syndactyly syndrome10.1
20michels syndrome10.1
21tetrasomy x10.1
22williams-beuren syndrome10.0
23hydrocephalus10.0
24thrombocytopenia10.0
25antley-bixler syndrome10.0
26scoliosis10.0
27sensorineural hearing loss10.0
28esophageal atresia10.0
29esophagitis10.0
30azoospermia10.0
31myositis10.0
32myositis ossificans10.0
33phocomelia10.0
34head injury10.0
35orofaciodigital syndrome x10.0EFTUD2, SF3B4
36mental retardation, autosomal recessive 469.9EFTUD2, SF3B4
37bardet-biedl syndrome9.9EFTUD2, SF3B4
38botulism9.7FGFR1, HOXA11, LRP4
39adrenal cortical hypofunction9.6RECQL4, SALL4
40craniosynostosis, type 19.4FGFR1, RECQL4
41critical limb ischemia9.3FGFR1, RECQL4
42neonatal abstinence syndrome7.4EFTUD2, FGFR1, HOXA11, LRP4, RECQL4, SALL4

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 dislocated radial head HP:0003083
2 radioulnar synostosis HP:0002974
3 limited elbow extension HP:0001377

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, Endothelial, Bone marrow, Prostate, Lung, Liver, Skin

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:00053678.6FGFR1, HOXA11, LRP4, SALL4
2MP:00053717.9FGFR1, HOXA11, LRP4, RECQL4, SALL4
3MP:00053827.8FGFR1, LRP4, RECQL4, SALL4
4MP:00053907.7FGFR1, HOXA11, LRP4, RECQL4, SALL4

Publications for Radioulnar Synostosis

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Articles related to Radioulnar Synostosis:

(show top 50)    (show all 107)
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
Adipofascial radial artery perforator flap interposition to treat post-traumatic radioulnar synostosis in a patient with head injury. (25725026)
2015
4
Distal radioulnar synostosis after primary combined replacements for treatment of highly comminuted distal radius fracture in an elderly patient. (26598107)
2015
5
Case report: lateral capsular release for acute extension deficit in a child with congenital radioulnar synostosis. (25411938)
2015
6
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. (26581901)
2015
7
Proximal radial diaphyseal segment resection for posttraumatic proximal radioulnar synostosis: a prospective study of 15 cases. (24768222)
2014
8
Modified osteotomy (Kanaya's procedure) for congenital proximal radioulnar synostosis with posterior dislocation of radial head. (23821677)
2013
9
Gradual correction of congenital radioulnar synostosis by an osteotomy and Ilizarov external fixation. (23290465)
2013
10
Treatment of blocked elbow flexion in congenital radioulnar synostosis with radial head excision: a case series. (23752153)
2013
11
Management of posttraumatic radioulnar synostosis. (22751164)
2012
12
Preventing recurrence of radioulnar synostosis with pedicled adipofascial flaps. (21987272)
2012
13
Long-term follow-up of microvascular free tissue transfer for mobilization of congenital radioulnar synostosis. (22999592)
2012
14
Congenital radioulnar synostosis - case report. (22802806)
2010
15
Painful snapping elbow in patients with congenital radioulnar synostosis: report of two cases. (20684930)
2010
16
The developmental spectrum of proximal radioulnar synostosis. (19669136)
2010
17
Three-dimensional motion analysis of compensatory movements in patients with radioulnar synostosis performing activities of daily living. (19499298)
2009
18
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. (19022412)
2009
19
Derotational osteotomy of the proximal radius and the distal ulna for congenital radioulnar synostosis. (19308546)
2008
20
Management of posttraumatic metadiaphyseal radioulnar synostosis. (17548013)
2007
21
A comparison of proximal radioulnar synostosis excision after trauma and distal biceps reattachment. (17629506)
2007
22
Heterotopic ossification causing proximal radioulnar synostosis after insertion of a radial head prosthesis. (16753242)
2006
23
Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis. (16681404)
2006
24
Bilateral aplasia of the thumb, proximal radioulnar synostosis and unilateral synostosis of metacarpals 4 and 5. (15083702)
2004
25
Posttraumatic radioulnar synostosis treated with a free vascularized fat transplant and dynamic splint: a report of two cases. (14676558)
2004
26
Congenital radioulnar synostosis: a case report of a probable subtype. (15168190)
2004
27
Posttraumatic distal radioulnar synostosis and distal radial epiphyseal arrest. (11881314)
2002
28
Proximal radial resection for posttraumatic radioulnar synostosis: a new technique to improve forearm rotation. (12004015)
2002
29
Distal radioulnar synostosis following K-wire fixation. (11199355)
2001
30
Proximal radioulnar synostosis treated with a free vascularised fascio-fat graft--report of two cases. (11301511)
2000
31
Proximal radioulnar synostosis. (11057491)
2000
32
Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome? (10706353)
2000
33
Radioulnar synostosis and XYY syndrome. (10649807)
2000
34
Management of radioulnar synostosis with mobilization, anconeus interposition, and a forearm rotation assist splint. (10633900)
1999
35
Mobilization of a congenital proximal radioulnar synostosis with use of a free vascularized fascio-fat graft. (9730128)
1998
36
Operative treatment of post-traumatic proximal radioulnar synostosis. (9486731)
1998
37
Congenital radioulnar synostosis. Study of a series of 37 children and adolescents. (10855298)
1998
38
Adolescent presentation of congenital radioulnar synostosis. (8665757)
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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GO Terms for genes affiliated with Radioulnar Synostosis

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

idNameGO IDScoreTop Affiliating Genes
1embryonic digit morphogenesisGO:00427339.9HOXA11, LRP4
2regulation of gene expressionGO:00104689.8FGFR1, HOXA11
3proximal/distal pattern formationGO:00099549.6HOXA11, LRP4
4skeletal system developmentGO:00015019.6FGFR1, HOXA11
5embryonic limb morphogenesisGO:00303269.6FGFR1, HOXA11

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