MCID: RDL002
MIFTS: 45

Radioulnar Synostosis malady

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Radioulnar Synostosis

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Sources:
50OMIM, 11Disease Ontology, 13DISEASES, 25GTR, 37MeSH, 66UMLS, 52Orphanet, 28ICD10, 30ICD9CM, 29ICD10 via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Radioulnar Synostosis:

Name: Radioulnar Synostosis 50 11 13 25 37 66
Congenital Radioulnar Synostosis 52
 
Radio-Ulnar Synostosis Type 1 66
Radioulnar Fusion 52

Characteristics:

Orphanet epidemiological data:

52
congenital radioulnar synostosis:
Age of onset: Childhood,Infancy; Age of death: normal life expectancy

HPO:

62
radioulnar synostosis:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 179300
Disease Ontology11 DOID:9827
ICD1028 Q74.0
ICD9CM30 755.53
SNOMED-CT60 33313004
MeSH37 C562408
Orphanet52 ORPHA3269
ICD10 via Orphanet29 Q74.0
UMLS via Orphanet67 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 hearing/vestibular/ear and craniofacial.

Description from OMIM:50 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 top 50)    (show all 57)
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 retardation12.2
4radioulnar synostosis, unilateral, with developmental retardation and hypotonia12.1
5radioulnar synostosis retinal pigment abnormalities12.1
6craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome12.1
7jorgenson lenz syndrome11.3
8congenital radio-ulnar synostosis11.3
9nievergelt syndrome11.1
10synostosis11.0
11microtia, hearing impairment, and cleft palate10.4HOXA11, MECOM
12acrofacial dysostosis 1, nager type10.3
13microcephaly10.3
14craniosynostosis10.2
15ptosis10.2
16blepharophimosis10.2
173mc syndrome 210.1
183mc syndrome 110.1
19cenani-lenz syndactyly syndrome10.1
20abruzzo-erickson syndrome10.1
21michels syndrome10.1
22tetrasomy x10.1
23pfn1-related amyotrophic lateral sclerosis10.0FGFR1, FGFR2
24flnb-related disorders10.0FGFR1, FGFR2
25plasmalogens synthesis deficiency isolated10.0FGFR1, FGFR2
26williams-beuren syndrome10.0
27hydrocephalus10.0
28thrombocytopenia10.0
29antley-bixler syndrome10.0
30scoliosis10.0
31sensorineural hearing loss10.0
32esophageal atresia10.0
33esophagitis10.0
34azoospermia10.0
35myositis10.0
36myositis ossificans10.0
37phocomelia10.0
38head injury10.0
39trigonocephaly 110.0FGFR1, FGFR2
40bladder cancer, somatic10.0FGFR1, FGFR2
41hypogonadotropic hypogonadism 2 with or without anosmia10.0FGFR1, FGFR2
42central nervous system leukemia10.0FGFR1, FGFR2
43weill-marchesani syndrome10.0FGFR1, FGFR2
44thanatophoric dysplasia, type i10.0FGFR1, FGFR2
45antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.9FGFR1, FGFR2
46beare-stevenson cutis gyrata syndrome9.9FGFR1, FGFR2
47thanatophoric dysplasia, type ii9.9FGFR1, FGFR2
48ischemic bone disease9.9FGFR1, FGFR2
49hypochondroplasia9.9FGFR1, FGFR2
50craniosynostosis, type 19.8FGFR1, FGFR2

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



Diseases related to radioulnar synostosis

Symptoms for Radioulnar Synostosis

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Symptoms by clinical synopsis from OMIM:

179300

Clinical features from OMIM:

179300

HPO human phenotypes related to Radioulnar Synostosis:

id Description Frequency HPO Source Accession
1 limited elbow extension HP:0001377
2 radioulnar synostosis HP:0002974
3 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


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 Synostosis25

Anatomical Context for Radioulnar Synostosis

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MalaCards organs/tissues related to Radioulnar Synostosis:

34
Bone, Bone marrow, Brain, Eye

Animal Models for Radioulnar Synostosis or affiliated genes

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MGI Mouse Phenotypes related to Radioulnar Synostosis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5FGFR1, FGFR2, MECOM, SALL4
2MP:00053828.0FGFR1, FGFR2, LRP4, MECOM, SALL4
3MP:00053807.7FGFR1, FGFR2, LRP4, MECOM, SALL4
4MP:00053677.5FGFR1, FGFR2, HOXA11, LRP4, SALL4
5MP:00053897.4FGFR1, FGFR2, HOXA11, LRP4, MECOM, SALL4
6MP:00053847.4FGFR1, FGFR2, HOXA11, LRP4, MECOM, SALL4
7MP:00053907.3FGFR1, FGFR2, HOXA11, LRP4, MECOM, SALL4
8MP:00053717.0FGFR1, FGFR2, HOXA11, LRP4, MECOM, SALL4

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
Proximal radial diaphyseal segment resection for posttraumatic proximal radioulnar synostosis: a prospective study of 15 cases. (24768222)
2014
7
Outcomes of anconeus interposition for proximal radioulnar synostosis. (25304042)
2014
8
An iatrogenic proximal radioulnar synostosis: a case report and review of literature. (25471438)
2014
9
Idiopathic distal radioulnar synostosis. (23789710)
2014
10
Results of single-staged rotational osteotomy in a child with congenital proximal radioulnar synostosis: subjective and objective evaluation. (23863412)
2014
11
Single osteotomy at the radial diaphysis for congenital radioulnar synostosis. (24996678)
2014
12
Successful treatment of a radioulnar synostosis in a Mississippi kite (Ictinia mississippiensis). (22872982)
2012
13
Limitation of elbow flexion in a patient with congenital radioulnar synostosis. (22388707)
2012
14
Adult post-traumatic radioulnar synostosis. (23000035)
2012
15
Congenital radioulnar synostosis - case report. (22802806)
2010
16
Painful snapping elbow in patients with congenital radioulnar synostosis: report of two cases. (20684930)
2010
17
Reconstruction of a chronic Monteggia fracture with associated radioulnar synostosis. (20512175)
2010
18
Derotational osteotomy of the proximal radius and the distal ulna for congenital radioulnar synostosis. (19308546)
2008
19
A comparison of proximal radioulnar synostosis excision after trauma and distal biceps reattachment. (17629506)
2007
20
Two-stage double-level rotational osteotomy in the treatment of congenital radioulnar synostosis. (18260481)
2007
21
Congenital proximal radioulnar synostosis associated with bilateral hypoplasia of the scaphoid bone, bilateral os lunatotriquetrum, and anomalies of the carpometacarpal complex. (17189852)
2007
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
Radioulnar synostosis after the two-incision biceps repair: a standardized treatment protocol. (15220887)
2004
25
Antley-Bixler syndrome with radioulnar synostosis. (14513299)
2004
26
Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1. (14984476)
2004
27
Surgical treatment of posttraumatic radioulnar synostosis in children. (12198460)
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
Management of radioulnar synostosis with mobilization, anconeus interposition, and a forearm rotation assist splint. (10633900)
1999
32
Mobilization of a congenital proximal radioulnar synostosis with use of a free vascularized fascio-fat graft. (9730128)
1998
33
Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation. (9880222)
1998
34
Anatomic basis of dorsoradial approach for radioulnar synostosis. (9787388)
1998
35
Adolescent presentation of congenital radioulnar synostosis. (8665757)
1996
36
Congenital radioulnar synostosis. Surgical correction by derotational osteotomy. (8829380)
1996
37
Treatment of traumatic radioulnar synostosis by excision and postoperative low-dose irradiation. (8056964)
1994
38
Congenital proximal radioulnar synostosis: treatment with the Ilizarov method. (7876499)
1994
39
Radioulnar synostosis in Williams syndrome: a historical overview. (8209922)
1994
40
Radioulnar synostosis. (7962146)
1994
41
Treatment of posttraumatic radioulnar synostosis with excision and low-dose radiation. (8349985)
1993
42
Post-traumatic radioulnar synostosis after forearm fracture osteosynthesis. (2059537)
1991
43
Proximal radioulnar synostosis after repair of distal biceps brachii rupture by the two-incision technique. Report of four cases. (2317966)
1990
44
Congenital radioulnar synostosis. Radiological characteristics and hand function: case reports. (3252456)
1988
45
Post-traumatic radioulnar synostosis. A report of two cases. (6723140)
1984
46
Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis. (6590784)
1983
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:

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
1embryonic digit morphogenesisGO:004273310.0HOXA11, LRP4
2organ inductionGO:000175910.0FGFR1, HOXA11
3proximal/distal pattern formationGO:00099549.9HOXA11, LRP4
4fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.7FGFR1, FGFR2
5dorsal/ventral pattern formationGO:00099539.6HOXA11, LRP4
6phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.6FGFR1, FGFR2
7mesenchymal cell differentiationGO:00487629.6FGFR1, FGFR2
8regulation of phosphatidylinositol 3-kinase signalingGO:00140669.5FGFR1, FGFR2
9positive regulation of cardiac muscle cell proliferationGO:00600459.5FGFR1, FGFR2
10positive regulation of cell cycleGO:00457879.5FGFR1, FGFR2
11skeletal system morphogenesisGO:00487059.5FGFR1, FGFR2
12positive regulation of phospholipase activityGO:00105189.4FGFR1, FGFR2
13branching involved in salivary gland morphogenesisGO:00604459.4FGFR1, FGFR2
14positive regulation of mesenchymal cell proliferationGO:00020539.4FGFR1, FGFR2
15ventricular zone neuroblast divisionGO:00218479.4FGFR1, FGFR2
16midbrain developmentGO:00309019.4FGFR1, FGFR2
17ureteric bud developmentGO:00016579.3FGFR1, FGFR2
18stem cell population maintenanceGO:00198279.2FGFR1, SALL4
19inner ear morphogenesisGO:00424729.1FGFR1, FGFR2
20orbitofrontal cortex developmentGO:00217699.0FGFR1, FGFR2
21in utero embryonic developmentGO:00017018.9FGFR1, FGFR2, SALL4
22lung-associated mesenchyme developmentGO:00604848.7FGFR1, FGFR2
23embryonic limb morphogenesisGO:00303268.6FGFR1, HOXA11, LRP4, SALL4

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.5FGFR1, FGFR2
21-phosphatidylinositol-3-kinase activityGO:00163039.2FGFR1, FGFR2
3fibroblast growth factor bindingGO:00171349.0FGFR1, FGFR2
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469348.9FGFR1, FGFR2

Sources for Radioulnar Synostosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet