MCID: RDL002
MIFTS: 44

Radioulnar Synostosis malady

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Radioulnar Synostosis

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Sources:
11Disease Ontology, 13DISEASES, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 39MeSH, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Radioulnar Synostosis:

Name: Radioulnar Synostosis 52 11 27 39 13 68
Congenital Radioulnar Synostosis 54
 
Radio-Ulnar Synostosis Type 1 68
Radioulnar Fusion 54

Characteristics:

Orphanet epidemiological data:

54
congenital radioulnar synostosis:
Age of onset: Childhood,Infancy; Age of death: normal life expectancy

HPO:

64
radioulnar synostosis:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 179300
Disease Ontology11 DOID:9827
ICD1030 Q74.0
ICD9CM32 755.53
SNOMED-CT62 33313004
MeSH39 C562408
Orphanet54 ORPHA3269
ICD10 via Orphanet31 Q74.0
UMLS via Orphanet69 C0431795

Summaries for Radioulnar Synostosis

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MalaCards based summary: Radioulnar Synostosis, also known as congenital radioulnar synostosis, is related to radioulnar synostosis with amegakaryocytic thrombocytopenia and radioulnar synostosis with amegakaryocytic thrombocytopenia 2, and has symptoms including limited elbow extension, radioulnar synostosis and dislocated radial head. An important gene associated with Radioulnar Synostosis is MECOM (MDS1 And EVI1 Complex Locus), and among its related pathways are Central carbon metabolism in cancer and Vemurafenib Pathway, Pharmacodynamics. Affiliated tissues include bone, bone marrow and brain, and related mouse phenotypes are Condensed cis-Golgi and hearing/vestibular/ear.

Description from OMIM:52 179300

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 50)
idRelated DiseaseScoreTop Affiliating Genes
1radioulnar synostosis with amegakaryocytic thrombocytopenia12.5
2radioulnar synostosis with amegakaryocytic thrombocytopenia 212.3
3radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation12.1
4radioulnar synostosis, unilateral, with developmental retardation and hypotonia12.0
5craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome12.0
6jorgenson lenz syndrome11.2
7acrofacial dysostosis 1, nager type11.2
8congenital radio-ulnar synostosis11.1
93mc syndrome 211.0
103mc syndrome 111.0
11cenani-lenz syndactyly syndrome11.0
12abruzzo-erickson syndrome11.0
13nievergelt syndrome11.0
14synostosis10.9
15microtia, hearing impairment, and cleft palate10.3HOXA11, MECOM
16microcephaly10.1
17craniosynostosis10.0
18ptosis10.0
19blepharophimosis10.0
20williams-beuren syndrome9.9
21hydrocephalus9.9
22thrombocytopenia9.9
23scoliosis9.9
24sensorineural hearing loss9.9
25esophageal atresia9.9
26esophagitis9.9
27azoospermia9.9
28myositis9.9
29myositis ossificans9.9
30phocomelia9.9
31head injury9.9
32pfn1-related amyotrophic lateral sclerosis9.7FGFR1, FGFR2
33flnb-related disorders9.7FGFR1, FGFR2
34plasmalogens synthesis deficiency isolated9.7FGFR1, FGFR2
35trigonocephaly 19.7FGFR1, FGFR2
36bladder cancer, somatic9.7FGFR1, FGFR2
37hypogonadotropic hypogonadism 2 with or without anosmia9.7FGFR1, FGFR2
38central nervous system leukemia9.7FGFR1, FGFR2
39thanatophoric dysplasia, type i9.7FGFR1, FGFR2
40antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.7FGFR1, FGFR2
41beare-stevenson cutis gyrata syndrome9.6FGFR1, FGFR2
42thanatophoric dysplasia, type ii9.6FGFR1, FGFR2
43ischemic bone disease9.6FGFR1, FGFR2
44hypochondroplasia9.6FGFR1, FGFR2
45craniosynostosis, type 19.5FGFR1, FGFR2
46myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.5FGFR1, FGFR2
47crohn's disease9.5FGFR1, FGFR2
48jackson-weiss syndrome9.4FGFR1, FGFR2
49serous conjunctivitis except viral9.3FGFR2, LRP4
50uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis7.8FGFR1, FGFR2, HOXA11, LRP4, MECOM, SALL4

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



Diseases related to radioulnar synostosis

Symptoms & Phenotypes for Radioulnar Synostosis

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Symptoms by clinical synopsis from OMIM:

179300

Clinical features from OMIM:

179300

Human phenotypes related to Radioulnar Synostosis:

 64
id Description HPO Frequency HPO Source Accession
1 limited elbow extension64 HP:0001377
2 radioulnar synostosis64 HP:0002974
3 dislocated radial head64 HP:0003083

GenomeRNAi Phenotypes related to Radioulnar Synostosis according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00365-A9.5FGFR1, FGFR2, MECOM

MGI Mouse Phenotypes related to Radioulnar Synostosis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9FGFR1, FGFR2, MECOM, SALL4
2MP:00053828.5FGFR1, FGFR2, LRP4, MECOM, SALL4
3MP:00053808.5FGFR1, FGFR2, LRP4, MECOM, SALL4
4MP:00053678.4FGFR1, FGFR2, HOXA11, LRP4, SALL4
5MP:00053848.1FGFR1, FGFR2, HOXA11, LRP4, MECOM, SALL4
6MP:00053718.1FGFR1, FGFR2, HOXA11, LRP4, MECOM, SALL4
7MP:00053898.0FGFR1, FGFR2, HOXA11, LRP4, MECOM, SALL4
8MP:00053907.3FGFR1, FGFR2, HOXA11, LRP4, MECOM, SALL4

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


Cochrane evidence based reviews: radioulnar synostosis

Genetic Tests for Radioulnar Synostosis

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Genetic tests related to Radioulnar Synostosis:

id Genetic test Affiliating Genes
1 Radioulnar Synostosis27

Anatomical Context for Radioulnar Synostosis

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MalaCards organs/tissues related to Radioulnar Synostosis:

36
Bone, Bone marrow, Brain, Eye

Publications for Radioulnar Synostosis

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Articles related to Radioulnar Synostosis:

(show top 50)    (show all 109)
idTitleAuthorsYear
1
Minimally invasive single-session double-level rotational osteotomy of the forearm bones to correct fixed pronation deformity in congenital proximal radioulnar synostosis. (27312798)
2016
2
Long-term results after a free vascularized adipofascial graft for congenital proximal radioulnar synostosis with an average follow-up of 10 years: a series of four cases. (27422459)
2016
3
Surgical Treatment of Posttraumatic Radioulnar Synostosis. (26977328)
2016
4
Adipofascial radial artery perforator flap interposition to treat post-traumatic radioulnar synostosis in a patient with head injury. (25725026)
2015
5
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. (26581901)
2015
6
One-stage rotational osteotomy for congenital radioulnar synostosis. (25827142)
2015
7
Safety and Efficacy of Derotational Osteotomy for Congenital Radioulnar Synostosis. (26322649)
2015
8
Distal radioulnar synostosis after primary combined replacements for treatment of highly comminuted distal radius fracture in an elderly patient. (26598107)
2015
9
Case report: lateral capsular release for acute extension deficit in a child with congenital radioulnar synostosis. (25411938)
2015
10
Malpositioned olecranon fracture tension-band wiring results in proximal radioulnar synostosis. (26514829)
2015
11
An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis. (25823593)
2015
12
Surgical outcome of delayed presentation of congenital proximal radioulnar synostosis. (27163088)
2015
13
Proximal radial diaphyseal segment resection for posttraumatic proximal radioulnar synostosis: a prospective study of 15 cases. (24768222)
2014
14
Outcomes of anconeus interposition for proximal radioulnar synostosis. (25304042)
2014
15
An iatrogenic proximal radioulnar synostosis: a case report and review of literature. (25471438)
2014
16
Idiopathic distal radioulnar synostosis. (23789710)
2014
17
Results of single-staged rotational osteotomy in a child with congenital proximal radioulnar synostosis: subjective and objective evaluation. (23863412)
2014
18
Single osteotomy at the radial diaphysis for congenital radioulnar synostosis. (24996678)
2014
19
Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2. (24805776)
2014
20
Modified osteotomy (Kanaya's procedure) for congenital proximal radioulnar synostosis with posterior dislocation of radial head. (23821677)
2013
21
Gradual correction of congenital radioulnar synostosis by an osteotomy and Ilizarov external fixation. (23290465)
2013
22
Treatment of blocked elbow flexion in congenital radioulnar synostosis with radial head excision: a case series. (23752153)
2013
23
Treatment of proximal radioulnar synostosis using a posterior interosseous antegrade flow pedicled flap. (24071038)
2013
24
Successful treatment of a radioulnar synostosis in a Mississippi kite (Ictinia mississippiensis). (22872982)
2012
25
Limitation of elbow flexion in a patient with congenital radioulnar synostosis. (22388707)
2012
26
Adult post-traumatic radioulnar synostosis. (23000035)
2012
27
Management of posttraumatic radioulnar synostosis. (22751164)
2012
28
Preventing recurrence of radioulnar synostosis with pedicled adipofascial flaps. (21987272)
2012
29
Long-term follow-up of microvascular free tissue transfer for mobilization of congenital radioulnar synostosis. (22999592)
2012
30
Congenital radioulnar synostosis - case report. (22802806)
2010
31
Painful snapping elbow in patients with congenital radioulnar synostosis: report of two cases. (20684930)
2010
32
Reconstruction of a chronic Monteggia fracture with associated radioulnar synostosis. (20512175)
2010
33
The developmental spectrum of proximal radioulnar synostosis. (19669136)
2010
34
The mechanism of acute elbow flexion contracture in children with congenital proximal radioulnar synostosis. (20357595)
2010
35
Three-dimensional motion analysis of compensatory movements in patients with radioulnar synostosis performing activities of daily living. (19499298)
2009
36
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. (19022412)
2009
37
Derotational osteotomy of the proximal radius and the distal ulna for congenital radioulnar synostosis. (19308546)
2008
38
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
39
Congenital radioulnar synostosis, azoospermia, and pseudodicentric Y chromosome. (18177653)
2008
40
A comparison of proximal radioulnar synostosis excision after trauma and distal biceps reattachment. (17629506)
2007
41
Two-stage double-level rotational osteotomy in the treatment of congenital radioulnar synostosis. (18260481)
2007
42
Congenital proximal radioulnar synostosis associated with bilateral hypoplasia of the scaphoid bone, bilateral os lunatotriquetrum, and anomalies of the carpometacarpal complex. (17189852)
2007
43
Management of posttraumatic metadiaphyseal radioulnar synostosis. (17548013)
2007
44
Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis. (16681404)
2006
45
Heterotopic ossification causing proximal radioulnar synostosis after insertion of a radial head prosthesis. (16753242)
2006
46
In vivo three-dimensional motion analysis of the forearm with radioulnar synostosis treated by the Kanaya procedure. (16602108)
2006
47
The use of tensor fascia lata interposition grafts for the treatment of posttraumatic radioulnar synostosis. (16713843)
2006
48
Congenital radioulnar synostosis treated using a microvascular free fasio-fat flap. (15880988)
2005
49
Rotational osteotomies for congenital radioulnar synostosis. (16189317)
2005
50
Rotational osteotomy at the diaphysis of the radius in the treatment of congenital radioulnar synostosis. (16199954)
2005

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:

idSuper pathwaysScoreTop Affiliating Genes
19.0FGFR1, FGFR2
29.0FGFR1, FGFR2
39.0FGFR1, FGFR2
49.0FGFR1, FGFR2
58.7FGFR1, FGFR2, MECOM
68.7FGFR1, FGFR2, MECOM

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 23)
idNameGO IDScoreTop Affiliating Genes
1dorsal/ventral pattern formationGO:000995310.3HOXA11, LRP4
2embryonic digit morphogenesisGO:004273310.3HOXA11, LRP4
3proximal/distal pattern formationGO:000995410.2HOXA11, LRP4
4organ inductionGO:00017599.9FGFR1, HOXA11
5branching involved in salivary gland morphogenesisGO:00604459.7FGFR1, FGFR2
6fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.7FGFR1, FGFR2
7inner ear morphogenesisGO:00424729.7FGFR1, FGFR2
8lung-associated mesenchyme developmentGO:00604849.7FGFR1, FGFR2
9mesenchymal cell differentiationGO:00487629.7FGFR1, FGFR2
10midbrain developmentGO:00309019.7FGFR1, FGFR2
11orbitofrontal cortex developmentGO:00217699.7FGFR1, FGFR2
12phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.7FGFR1, FGFR2
13positive regulation of cardiac muscle cell proliferationGO:00600459.7FGFR1, FGFR2
14positive regulation of cell cycleGO:00457879.6FGFR1, FGFR2
15positive regulation of mesenchymal cell proliferationGO:00020539.6FGFR1, FGFR2
16positive regulation of phospholipase activityGO:00105189.6FGFR1, FGFR2
17regulation of phosphatidylinositol 3-kinase signalingGO:00140669.6FGFR1, FGFR2
18stem cell population maintenanceGO:00198279.6FGFR1, SALL4
19skeletal system morphogenesisGO:00487059.6FGFR1, FGFR2
20in utero embryonic developmentGO:00017019.2FGFR1, FGFR2, SALL4
21ureteric bud developmentGO:00016579.0FGFR1, FGFR2
22ventricular zone neuroblast divisionGO:00218479.0FGFR1, FGFR2
23embryonic limb morphogenesisGO:00303268.9FGFR1, HOXA11, LRP4, SALL4

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

idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase activityGO:00163039.5FGFR1, FGFR2
2fibroblast growth factor bindingGO:00171349.5FGFR1, FGFR2
3fibroblast growth factor-activated receptor activityGO:00050079.5FGFR1, FGFR2
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.0FGFR1, FGFR2

Sources for Radioulnar Synostosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet