MCID: RDL002
MIFTS: 39

Radioulnar Synostosis malady

Summaries for Radioulnar Synostosis

Sources:
47OMIM, 33MalaCards
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MalaCards: Radioulnar Synostosis is related to synostosis and antley-bixler syndrome. 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. Related mouse phenotypes are no phenotypic analysis and limbs/digits/tail.

Description from OMIM:47 179300

Aliases & Classifications for Radioulnar Synostosis

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 27ICD9CM, 57SNOMED-CT, 47OMIM
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Aliases & Descriptions:

radioulnar synostosis 8 10 61


External Ids:

Disease Ontology8 DOID:9827
ICD9CM27 755.53
SNOMED-CT57 33313004
OMIM47 179300

Related Diseases for Radioulnar Synostosis

Sources:
17GeneCards, 18GeneDecks
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Diseases in the radioulnar synostosis with amegakaryocytic thrombocytopenia family:

radioulnar synostosis radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation

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

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1synostosis31.6TWIST1, HOXA11, RECQL4, FGFR2, FGFR1, FGFR3
2antley-bixler syndrome30.2FGFR2
3ladd syndrome30.2FGFR2, FGFR3
4saethre-chotzen syndrome30.2FGFR2, FGFR1, FGFR3, TWIST1
5proximal radioulnar synostosis10.8
6jorgenson lenz syndrome10.4
7craniosynostosis - hydrocephalus - chiari i malformation - radioulnar synostosis10.4
8microcephaly10.4
9williams syndrome10.4
10radioulnar synostosis retinal pigment abnormalities10.4
11congenital radio-ulnar synostosis10.4
12radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation10.4
13short stature10.4
14radioulnar synostosis with amegakaryocytic thrombocytopenia10.4
15williams-beuren syndrome10.3
16blepharophimosis10.3
17nager acrofacial dysostosis10.3
18nievergelt syndrome10.3
19tetrasomy x10.3
20synostosis - microcephaly - scoliosis10.3
21sensorineural hearing loss10.1
22myositis ossificans10.1
23roberts syndrome10.1
24esophageal atresia10.1
25azoospermia10.1
26micro syndrome10.1
2749, xxxxx10.1
28holt-oram syndrome10.1
29short 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
41pierre robin sequence10.1
42humeroradioulnar synostosis10.1
43ivic syndrome10.1
44noonan syndrome 110.1
45pillay syndrome10.1
46oslam syndrome10.1
47phaver syndrome10.1
48schinzel giedion syndrome10.1
4949,xxxxy syndrome10.1
5048,xxxy syndrome10.1

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



Diseases related to radioulnar synostosis

Clinical Features for Radioulnar Synostosis

Sources:
47OMIM
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Clinical features from OMIM:

179300

Drugs & Therapeutics for Radioulnar Synostosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Anatomical Context for Radioulnar Synostosis

Animal Models for Radioulnar Synostosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Radioulnar Synostosis

Sources:
51PubMed
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Articles related to Radioulnar Synostosis:

(show top 50)    (show all 92)
idTitleAuthorsYear
1
Results of single-staged rotational osteotomy in a child with congenital proximal radioulnar synostosis: subjective and objective evaluation. (23863412)
2014
2
Modified osteotomy (Kanaya's procedure) for congenital proximal radioulnar synostosis with posterior dislocation of radial head. (23821677)
2013
3
Gradual correction of congenital radioulnar synostosis by an osteotomy and Ilizarov external fixation. (23290465)
2013
4
Treatment of blocked elbow flexion in congenital radioulnar synostosis with radial head excision: a case series. (23752153)
2013
5
Management of posttraumatic radioulnar synostosis. (22751164)
2012
6
Long-term follow-up of microvascular free tissue transfer for mobilization of congenital radioulnar synostosis. (22999592)
2012
7
Successful treatment of a radioulnar synostosis in a Mississippi kite (Ictinia mississippiensis). (22872982)
2012
8
Limitation of elbow flexion in a patient with congenital radioulnar synostosis. (22388707)
2012
9
Adult post-traumatic radioulnar synostosis. (23000035)
2012
10
Congenital radioulnar synostosis - case report. (22802806)
2010
11
Painful snapping elbow in patients with congenital radioulnar synostosis: report of two cases. (20684930)
2010
12
The developmental spectrum of proximal radioulnar synostosis. (19669136)
2010
13
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. (19022412)
2009
14
Derotational osteotomy of the proximal radius and the distal ulna for congenital radioulnar synostosis. (19308546)
2008
15
Congenital proximal radioulnar synostosis associated with bilateral hypoplasia of the scaphoid bone, bilateral os lunatotriquetrum, and anomalies of the carpometacarpal complex. (17189852)
2007
16
Heterotopic ossification causing proximal radioulnar synostosis after insertion of a radial head prosthesis. (16753242)
2006
17
Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis. (16681404)
2006
18
The use of tensor fascia lata interposition grafts for the treatment of posttraumatic radioulnar synostosis. (16713843)
2006
19
Congenital radioulnar synostosis treated using a microvascular free fasio-fat flap. (15880988)
2005
20
Rotational osteotomy at the diaphysis of the radius in the treatment of congenital radioulnar synostosis. (16199954)
2005
21
Bilateral aplasia of the thumb, proximal radioulnar synostosis and unilateral synostosis of metacarpals 4 and 5. (15083702)
2004
22
Congenital radioulnar synostosis: a case report of a probable subtype. (15168190)
2004
23
Radioulnar synostosis after the two-incision biceps repair: a standardized treatment protocol. (15220887)
2004
24
Surgical treatment of acute elbow flexion contracture in patients with congenital proximal radioulnar synostosis. A report of two cases. (15252105)
2004
25
Treatment of radioulnar synostosis by radical excision and interposition of a radial forearm adipofascial flap. (15576229)
2004
26
The use of pedicled posterior interosseous fat graft for mobilization of congenital radioulnar synostosis: a case report. (14997106)
2004
27
Derotational osteotomy at the shafts of the radius and ulna for congenital radioulnar synostosis. (12563650)
2003
28
Surgical treatment of posttraumatic radioulnar synostosis in children. (12198460)
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
Congenital radioulnar synostosis in an active duty soldier: case report and literature review. (10826394)
2000
35
Management of radioulnar synostosis with mobilization, anconeus interposition, and a forearm rotation assist splint. (10633900)
1999
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
Radioulnar synostosis in Williams syndrome: a historical overview. (8209922)
1994
39
Radioulnar synostosis. (7962146)
1994
40
Treatment of posttraumatic radioulnar synostosis with excision and low-dose radiation. (8349985)
1993
41
Pin-site radioulnar synostosis after external fixation of a distal radial fracture: two case reports. (8472223)
1993
42
Imaging rounds #103. Myositis ossificans in association with congenital radioulnar synostosis and congenital anterior radial head dislocation. (2216544)
1990
43
Radioulnar synostosis in Williams syndrome. (2738785)
1989
44
Radioulnar synostosis following an isolated fracture of the ulnar shaft. A case report. (3780095)
1986
45
Radioulnar synostosis following proximal radial fracture in child. (3453451)
1986
46
Radiologic case study. Congenital radioulnar synostosis. (3774644)
1986
47
Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis. (6590784)
1983
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

Expression for genes affiliated with Radioulnar Synostosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
52QIAGEN, 12EMD Millipore, 4Cell Signaling Technology, 54Reactome, 60Tocris Bioscience, 53R&D Systems, 50PharmGKB, 38NCBI BioSystems Database
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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
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9.7FGFR2, FGFR1, FGFR3
4
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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

Sources:
11DrugBank, 60Tocris Bioscience, 45Novoseek, 24HMDB
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Compounds related to Radioulnar Synostosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Regorafenib119.9FGFR1, FGFR2
2su 5402609.9FGFR3, FGFR2, FGFR1
3pd 161570609.9FGFR2, FGFR1, FGFR3
4fiin 1 hydrochloride609.8FGFR2, FGFR1, FGFR3
5SU4984119.8FGFR2, FGFR1
6su5402459.8FGFR3, FGFR1, FGFR2
7pd 17307445 6010.8FGFR2, FGFR1, FGFR3
8palifermin45 1110.7FGFR3, FGFR1, FGFR2
9Ponatinib 119.7FGFR3, FGFR1, FGFR2
10sulfate45 2410.2SERPINA6, FGFR3, FGFR2

GO Terms for genes affiliated with Radioulnar Synostosis

Sources:
16Gene Ontology
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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

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  • Proteins
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Sources for Radioulnar Synostosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet