MCID: RDL002
MIFTS: 41

Radioulnar Synostosis malady

Summaries for Radioulnar Synostosis

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Radioulnar Synostosis is related to synostosis and craniosynostosis. An important gene associated with Radioulnar Synostosis is RECQL4 (RecQ protein-like 4), and among its related pathways are Development FGF-family signaling and Tyrosine Kinases / Adaptors. The compounds Regorafenib and su 5402 have been mentioned in the context of this disorder. Affiliated tissues include eye and bone, and related mouse phenotypes are no phenotypic analysis and limbs/digits/tail.

Description from OMIM:46 179300

Aliases & Classifications for Radioulnar Synostosis

About this section
Sources:
8Disease Ontology, 10DISEASES, 60UMLS, 27ICD9CM, 56SNOMED-CT, 46OMIM
See all sources

Aliases & Descriptions:

radioulnar synostosis 8 10 60


External Ids:

Disease Ontology8 DOID:9827
ICD9CM27 755.53
SNOMED-CT56 33313004
OMIM46 179300

Related Diseases for Radioulnar Synostosis

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1synostosis31.6TWIST1, HOXA11, RECQL4, FGFR2, FGFR1, FGFR3
2craniosynostosis30.4RECQL4, FGFR2, FGFR1, FGFR3, TWIST1
3antley-bixler syndrome30.1FGFR2
4ladd syndrome30.1FGFR2, FGFR3
5saethre-chotzen syndrome30.1FGFR2, FGFR1, FGFR3, TWIST1
6jorgenson lenz syndrome10.4
7craniosynostosis - hydrocephalus - chiari i malformation - radioulnar synostosis10.4
8microcephaly10.4
9williams syndrome10.4
10radioulnar synostosis retinal pigment abnormalities10.4
11radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation10.4
12radioulnar synostosis with amegakaryocytic thrombocytopenia10.4
13proximal radioulnar synostosis10.4
14williams-beuren syndrome10.3
15blepharophimosis10.3
16nager acrofacial dysostosis10.3
17congenital radio-ulnar synostosis10.3
18nievergelt syndrome10.3
19tetrasomy x10.3
20sensorineural hearing loss10.1
21myositis ossificans10.1
22roberts syndrome10.1
23esophageal atresia10.1
24azoospermia10.1
25esophagitis10.1
26hydrocephalus10.1
27myositis10.1
2849, xxxxx10.1
29holt-oram syndrome10.1
30abruzzo erickson syndrome10.1
31genitopatellar syndrome10.1
32acrofacial dysostosis rodriguez type10.1
33al gazali syndrome10.1
34oculofaciocardiodental syndrome10.1
35syndactyly cenani lenz type10.1
36juberg-hayward syndrome10.1
37marden-walker syndrome10.1
38michels syndrome10.1
39desbuquois syndrome10.1
40femoral facial syndrome10.1
41humeroradioulnar synostosis10.1
42ivic syndrome10.1
43noonan syndrome 110.1
44pillay syndrome10.1
45oslam syndrome10.1
46phaver syndrome10.1
47schinzel giedion syndrome10.1
4849,xxxxy syndrome10.1
4948,xxxy syndrome10.1
5048,xxyy syndrome10.1

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



Diseases related to radioulnar synostosis

Clinical Features for Radioulnar Synostosis

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

179300

Drugs & Therapeutics for Radioulnar Synostosis

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Radioulnar Synostosis

Drug clinical trials:

Search ClinicalTrials for Radioulnar Synostosis

Search NIH Clinical Center for Radioulnar Synostosis

Search CenterWatch for Radioulnar Synostosis

Genetic Tests for Radioulnar Synostosis

About this section

Anatomical Context for Radioulnar Synostosis

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Radioulnar Synostosis:

32
Eye, Bone

Animal Models for Radioulnar Synostosis or affiliated genes

About this section
Sources:
36MGI
See all sources

Publications for Radioulnar Synostosis

About this section
Sources:
50PubMed
See all sources

Articles related to Radioulnar Synostosis:

(show top 50)    (show all 92)
idTitleAuthorsYear
1
Idiopathic distal radioulnar synostosis. (23789710)
2014
2
Results of single-staged rotational osteotomy in a child with congenital proximal radioulnar synostosis: subjective and objective evaluation. (23863412)
2014
3
Modified osteotomy (Kanaya's procedure) for congenital proximal radioulnar synostosis with posterior dislocation of radial head. (23821677)
2013
4
Gradual correction of congenital radioulnar synostosis by an osteotomy and Ilizarov external fixation. (23290465)
2013
5
Treatment of blocked elbow flexion in congenital radioulnar synostosis with radial head excision: a case series. (23752153)
2013
6
Treatment of proximal radioulnar synostosis using a posterior interosseous antegrade flow pedicled flap. (24071038)
2013
7
Management of posttraumatic radioulnar synostosis. (22751164)
2012
8
Preventing recurrence of radioulnar synostosis with pedicled adipofascial flaps. (21987272)
2012
9
Successful treatment of a radioulnar synostosis in a Mississippi kite (Ictinia mississippiensis). (22872982)
2012
10
Limitation of elbow flexion in a patient with congenital radioulnar synostosis. (22388707)
2012
11
Adult post-traumatic radioulnar synostosis. (23000035)
2012
12
Congenital radioulnar synostosis - case report. (22802806)
2010
13
The developmental spectrum of proximal radioulnar synostosis. (19669136)
2010
14
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. (19022412)
2009
15
Management of posttraumatic metadiaphyseal radioulnar synostosis. (17548013)
2007
16
Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis. (16681404)
2006
17
Rotational osteotomy at the diaphysis of the radius in the treatment of congenital radioulnar synostosis. (16199954)
2005
18
Congenital radioulnar synostosis: a case report of a probable subtype. (15168190)
2004
19
Surgical treatment of acute elbow flexion contracture in patients with congenital proximal radioulnar synostosis. A report of two cases. (15252105)
2004
20
Antley-Bixler syndrome with radioulnar synostosis. (14513299)
2004
21
Proximal radial resection for posttraumatic radioulnar synostosis: a new technique to improve forearm rotation. (12004015)
2002
22
Distal radioulnar synostosis following K-wire fixation. (11199355)
2001
23
Proximal radioulnar synostosis. (11057491)
2000
24
Radioulnar synostosis and XYY syndrome. (10649807)
2000
25
Congenital radioulnar synostosis in an active duty soldier: case report and literature review. (10826394)
2000
26
Management of radioulnar synostosis with mobilization, anconeus interposition, and a forearm rotation assist splint. (10633900)
1999
27
Operative treatment of post-traumatic proximal radioulnar synostosis. (9486731)
1998
28
Congenital radioulnar synostosis. Study of a series of 37 children and adolescents. (10855298)
1998
29
Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation. (9880222)
1998
30
Congenital radioulnar synostosis. Surgical correction by derotational osteotomy. (8829380)
1996
31
Treatment of traumatic radioulnar synostosis by excision, with interposition of a posterior interosseous island forearm flap. (8771487)
1996
32
46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis. (7604847)
1995
33
Treatment of traumatic radioulnar synostosis by excision and postoperative low-dose irradiation. (8056964)
1994
34
Radioulnar synostosis in Williams syndrome: a historical overview. (8209922)
1994
35
Radioulnar synostosis. (7962146)
1994
36
Radioulnar synostosis in Williams-Beuren syndrome: a component manifestation. (8456863)
1993
37
Pediatric update #11. Congenital radioulnar synostosis. A new technique for derotational osteotomy. (2320384)
1990
38
Imaging rounds #103. Myositis ossificans in association with congenital radioulnar synostosis and congenital anterior radial head dislocation. (2216544)
1990
39
Radioulnar synostosis in Williams syndrome. (2738785)
1989
40
Congenital radioulnar synostosis. Radiological characteristics and hand function: case reports. (3252456)
1988
41
Ulnar nerve palsy following rotational osteotomy of congenital radioulnar synostosis. (3793902)
1987
42
Radioulnar synostosis following proximal radial fracture in child. (3453451)
1986
43
Radiologic case study. Congenital radioulnar synostosis. (3774644)
1986
44
Post-traumatic radioulnar synostosis. A report of two cases. (6723140)
1984
45
Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis. (6590784)
1983
46
Post-traumatic radioulnar synostosis. (6403269)
1983
47
Familial radioulnar synostosis. (641954)
1978
48
Congenital radioulnar synostosis and congenital dislocation of the radial head. (1264432)
1976
49
Radioulnar synostosis and craniosynostosis in one family. (4768942)
1973
50
Phocomelia with radioulnar synostosis. Report of a case with review of the literature. (5937586)
1966

Genetic Variations for Radioulnar Synostosis

About this section

Expression for genes affiliated with Radioulnar Synostosis

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Radioulnar Synostosis

Search GEO for disease gene expression data for Radioulnar Synostosis.

Pathways for genes affiliated with Radioulnar Synostosis

About this section
Sources:
51QIAGEN, 12EMD Millipore, 4Cell Signaling Technology, 53Reactome, 59Tocris Bioscience, 52R&D Systems, 49PharmGKB, 37NCBI BioSystems Database
See all sources

Pathways related to Radioulnar Synostosis according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Development FGF-family signaling
Hide members
9.7FGFR3, FGFR1, FGFR2
29.7FGFR2, FGFR1, FGFR3
3
Hide members
9.7FGFR2, FGFR1, FGFR3
4
Hide members
9.7FGFR3, FGFR1, FGFR2
5
Hide members
9.7FGFR3, FGFR1, FGFR2
6
Hide members
9.7FGFR2, FGFR1, FGFR3
7
Hide members
9.7FGFR3, FGFR1, FGFR2
89.7FGFR2, FGFR1, FGFR3
9
Hide members
9.7FGFR2, FGFR1, FGFR3
10
Hide members
9.7FGFR2, FGFR1, FGFR3
119.7FGFR2, FGFR1, FGFR3
12
Hide members
9.7FGFR3, FGFR1, FGFR2
139.4TWIST1, FGFR3, FGFR1, FGFR2
149.4FGFRL1, FGFR3, FGFR1, FGFR2
159.3GREM1, FGFR2, FGFR1, FGFR3

Compounds for genes affiliated with Radioulnar Synostosis

About this section
Sources:
11DrugBank, 59Tocris Bioscience, 44Novoseek, 24HMDB
See all sources

Compounds related to Radioulnar Synostosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Regorafenib119.9FGFR1, FGFR2
2su 5402599.9FGFR3, FGFR2, FGFR1
3pd 161570599.9FGFR2, FGFR1, FGFR3
4fiin 1 hydrochloride599.8FGFR2, FGFR1, FGFR3
5SU4984119.8FGFR2, FGFR1
6su5402449.8FGFR3, FGFR1, FGFR2
7pd 17307444 5910.8FGFR2, FGFR1, FGFR3
8palifermin44 1110.7FGFR3, FGFR1, FGFR2
9Ponatinib 119.7FGFR3, FGFR1, FGFR2
10sulfate44 2410.2SERPINA6, FGFR3, FGFR2

GO Terms for genes affiliated with Radioulnar Synostosis

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Radioulnar Synostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160239.7FGFR3, FGFR1, FGFR2

Biological processes related to Radioulnar Synostosis according to GeneCards/GeneDecks:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.3FGFR1, FGFR2
2ventricular zone neuroblast divisionGO:02184710.3FGFR1, FGFR2
3positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.3FGFR3, FGFR1
4outer ear morphogenesisGO:04247310.3TWIST1, FGFR1
5mesenchymal cell differentiationGO:04876210.3FGFR2, FGFR1
6organ inductionGO:00175910.3HOXA11, FGFR1
7negative regulation of mitosisGO:04583910.3FGFR2, FGFR3
8lung-associated mesenchyme developmentGO:06048410.3FGFR2, FGFR1
9lens fiber cell developmentGO:07030710.2FGFR3, FGFR2
10branching involved in salivary gland morphogenesisGO:06044510.2FGFR1, FGFR2
11positive regulation of cardiac muscle cell proliferationGO:06004510.2FGFR1, FGFR2
12morphogenesis of an epitheliumGO:00200910.2FGFR3, TBX4
13bone morphogenesisGO:06034910.1FGFR3, FGFR2
14positive regulation of phospholipase activityGO:01051810.1FGFR3, FGFR1, FGFR2
15peptidyl-tyrosine phosphorylationGO:01810810.0FGFR2, FGFR1, FGFR3
16positive regulation of MAPK cascadeGO:04341010.0FGFR3, FGFR1, FGFR2
17proximal/distal pattern formationGO:00995410.0HOXA11, GREM1
18skeletal system morphogenesisGO:04870510.0TBX4, FGFR2, FGFR1
19phosphatidylinositol-mediated signalingGO:0480159.9FGFR2, FGFR1, FGFR3
20negative regulation of bone mineralizationGO:0305029.9BCOR, GREM1
21insulin receptor signaling pathwayGO:0082869.8FGFR3, FGFR1, FGFR2
22positive regulation of cell cycleGO:0457879.8FGFR1, FGFR2
23protein autophosphorylationGO:0467779.8FGFR2, FGFR1, FGFR3
24skeletal system developmentGO:0015019.8HOXA11, FGFR1, FGFR3, FGFRL1
25fibroblast growth factor receptor signaling pathwayGO:0085439.7FGFR2, FGFR1, FGFR3
26odontogenesisGO:0424769.7BCOR, FGFR2
27regulation of multicellular organism growthGO:0400149.7FGFR2, ATRN
28embryonic limb morphogenesisGO:0303269.7FGFR1, HOXA11, GREM1, TBX4
29embryonic cranial skeleton morphogenesisGO:0487019.7TWIST1, FGFR2
30positive regulation of cell proliferationGO:0082849.5GREM1, FGFR2, FGFR1, FGFR3
31negative regulation of transcription from RNA polymerase II promoterGO:0001229.2FGFR2, FGFR1, FGFR3, BCOR, TWIST1

Molecular functions related to Radioulnar Synostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082019.6FGFRL1, FGFR1, FGFR2
2protein tyrosine kinase activityGO:0047139.4FGFR3, FGFR1, FGFR2
3fibroblast growth factor-activated receptor activityGO:0050079.4FGFRL1, FGFR3, FGFR1, FGFR2
4fibroblast growth factor bindingGO:0171349.3FGFR2, FGFR1, FGFR3, FGFRL1

Products for genes affiliated with Radioulnar Synostosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Radioulnar Synostosis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet