MCID: RDL002
MIFTS: 44

Radioulnar Synostosis malady

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Radioulnar Synostosis

About this section
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

About this section
Wikipedia:71 Radioulnar synostosis is a rare condition where there is an abnormal connection between the radius and... more...

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 Alzheimers Disease Pathway and Central carbon metabolism in cancer. Affiliated tissues include bone, brain and eye, and related mouse phenotypes are Condensed cis-Golgi and hearing/vestibular/ear.

Description from OMIM:52 179300

Related Diseases for Radioulnar Synostosis

About this section

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

(show top 50)    (show all 51)
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
63mc syndrome11.3
7jorgenson lenz syndrome11.2
8acrofacial dysostosis 1, nager type11.2
9congenital radio-ulnar synostosis11.1
103mc syndrome 211.0
113mc syndrome 111.0
12cenani-lenz syndactyly syndrome11.0
13abruzzo-erickson syndrome11.0
14tetrasomy x11.0
15nievergelt syndrome11.0
16synostosis10.9
17asthma 210.1HOXA11, MECOM
18microcephaly10.1
19pkp1-related ectodermal dysplasia/skin fragility syndrome10.1FGFR1, FGFR2
20pitx3-related anterior segment mesenchymal dysgenesis10.1FGFR1, FGFR2
21familial porphyria cutanea tarda10.1FGFR1, FGFR2
22hartsfield syndrome10.1FGFR1, FGFR2
23pointer syndrome10.1FGFR1, FGFR2
24osteoglophonic dysplasia10.1FGFR1, FGFR2
25crouzon syndrome with acanthosis nigricans10.1FGFR1, FGFR2
26epidemic typhus10.1FGFR1, FGFR2
27scaphocephaly, maxillary retrusion, and mental retardation10.1FGFR1, FGFR2
28apert syndrome10.0FGFR1, FGFR2
29craniosynostosis10.0
30ptosis10.0
31blepharophimosis10.0
32cervical cancer, somatic10.0FGFR1, FGFR2
33thanatophoric dysplasia, type i10.0FGFR1, FGFR2
34bone structure disease10.0FGFR1, FGFR2
35saddan10.0FGFR1, FGFR2
36williams-beuren syndrome9.9
37hydrocephalus9.9
38thrombocytopenia9.9
39antley-bixler syndrome9.9
40scoliosis9.9
41sensorineural hearing loss9.9
42esophageal atresia9.9
43esophagitis9.9
44azoospermia9.9
45myositis9.9
46myositis ossificans9.9
47phocomelia9.9
48head injury9.9
49robinow-sorauf syndrome9.9FGFR1, FGFR2
50atrophy of testis9.2FGFR1, 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

About this section

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-A10.1FGFR1, FGFR2, MECOM

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.5FGFR1, FGFR2, MECOM, SALL4
2MP:00053828.7FGFR1, FGFR2, LRP4, MECOM, SALL4
3MP:00053808.7FGFR1, 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

About this section

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

About this section

Genetic tests related to Radioulnar Synostosis:

id Genetic test Affiliating Genes
1 Radioulnar Synostosis27

Anatomical Context for Radioulnar Synostosis

About this section

MalaCards organs/tissues related to Radioulnar Synostosis:

36
Bone, Brain, Eye

Publications for Radioulnar Synostosis

About this section

Articles related to Radioulnar Synostosis:

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

Variations for Radioulnar Synostosis

About this section

Expression for genes affiliated with Radioulnar Synostosis

About this section
Search GEO for disease gene expression data for Radioulnar Synostosis.

Pathways for genes affiliated with Radioulnar Synostosis

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.6FGFR1, FGFR2
29.6FGFR1, FGFR2
39.6FGFR1, FGFR2
4
Show member pathways
9.2FGFR1, FGFR2, MECOM
59.2FGFR1, FGFR2, MECOM

GO Terms for genes affiliated with Radioulnar Synostosis

About this section

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1branching involved in salivary gland morphogenesisGO:006044510.3FGFR1, FGFR2
2fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.3FGFR1, FGFR2
3inner ear morphogenesisGO:004247210.2FGFR1, FGFR2
4lung-associated mesenchyme developmentGO:006048410.2FGFR1, FGFR2
5mesenchymal cell differentiationGO:004876210.2FGFR1, FGFR2
6midbrain developmentGO:003090110.2FGFR1, FGFR2
7orbitofrontal cortex developmentGO:002176910.2FGFR1, FGFR2
8phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.2FGFR1, FGFR2
9positive regulation of cardiac muscle cell proliferationGO:006004510.2FGFR1, FGFR2
10positive regulation of cell cycleGO:004578710.2FGFR1, FGFR2
11positive regulation of mesenchymal cell proliferationGO:000205310.2FGFR1, FGFR2
12positive regulation of phospholipase activityGO:001051810.1FGFR1, FGFR2
13skeletal system morphogenesisGO:004870510.1FGFR1, FGFR2
14organ inductionGO:000175910.0FGFR1, HOXA11
15in utero embryonic developmentGO:00017019.7FGFR1, FGFR2, SALL4
16dorsal/ventral pattern formationGO:00099539.7HOXA11, LRP4
17embryonic digit morphogenesisGO:00427339.7HOXA11, LRP4
18ureteric bud developmentGO:00016579.6FGFR1, FGFR2
19ventricular zone neuroblast divisionGO:00218479.6FGFR1, FGFR2
20proximal/distal pattern formationGO:00099549.5HOXA11, LRP4
21embryonic limb morphogenesisGO:00303268.7FGFR1, HOXA11, LRP4, SALL4

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

idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase activityGO:001630310.2FGFR1, FGFR2
2fibroblast growth factor bindingGO:001713410.2FGFR1, FGFR2
3fibroblast growth factor-activated receptor activityGO:000500710.2FGFR1, FGFR2
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:004693410.1FGFR1, FGFR2
5transmembrane receptor protein tyrosine kinase activityGO:00047149.6FGFR1, FGFR2

Sources for Radioulnar Synostosis

About this section
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