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MCID: RDL002
MIFTS: 47

Radioulnar Synostosis

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Radioulnar Synostosis

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MalaCards integrated aliases for Radioulnar Synostosis:

Name: Radioulnar Synostosis 12 20 29 6 44 15 71
Congenital Radioulnar Synostosis 20
Radio-Ulnar Synostosis Type 1 71
Radial-Ulnar Synostosis 20
Radio-Ulnar Synostosis 20

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:9827
ICD9CM 34 755.53
MeSH 44 C562408
SNOMED-CT 67 33313004
ICD10 32 Q74.0
UMLS 71 C0158761 C2931147
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Summaries for Radioulnar Synostosis

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GARD : 20 Congenital radioulnar synostosis is a rare condition in which there is an abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth. The condition is present in both arms (bilateral) in approximately 60% of cases. Signs and symptoms depend on the severity of the abnormality and whether it is bilateral; people with the condition often have limited rotational movement of the forearm. Pain is usually not present until the teenage years. There are 2 types of radioulnar synostosis: type 1 and type 2. In type 1, the fusion involves 2-6 cm of the area between the radius and ulna bones which is closer to the elbow and the knobby end of the radius that meets the elbow is absent (radial head). In type 2, the fusion is farther from the elbow and there is dislocation of the radial head. Both types result in a limitation of inward roll (pronation) and outward roll (supination) of the forearm, and in type 2 there is also a restriction of extension at the elbow. Congenital radioulnar synostosis is due to abnormal fetal development of the forearm bones, but the underlying cause is not always known. It is sometimes a feature of certain chromosome abnormalities or genetic syndromes. Some cases appear to be inherited in an autosomal dominant manner. Treatment may be conservative or involve surgery depending on the severity of the abnormality and the range of motion.

MalaCards based summary : Radioulnar Synostosis, also known as congenital radioulnar synostosis, is related to radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome and saethre-chotzen syndrome. An important gene associated with Radioulnar Synostosis is SMAD6 (SMAD Family Member 6), and among its related pathways/superpathways are Negative regulation of FGFR1 signaling and mTOR signaling pathway (KEGG). Affiliated tissues include bone marrow and eye, and related phenotypes are radioulnar synostosis and limited pronation/supination of forearm

Wikipedia : 74 Radioulnar synostosis is a rare condition where there is an abnormal connection between the radius and... more...

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Related Diseases for Radioulnar Synostosis

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Diseases in the Radioulnar Synostosis family:

Radioulnar Synostosis, Nonsyndromic

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

(show top 50) (show all 149)
# Related Disease Score Top Affiliating Genes
1 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 32.6 MECOM HOXA11
2 saethre-chotzen syndrome 31.4 TWIST1 RECQL4 FGFR3 FGFR2 FGFR1
3 mandibulofacial dysostosis, guion-almeida type 30.2 SF3B4 RNU4ATAC EFTUD2
4 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 30.1 POR FGFR2
5 cytochrome p450 oxidoreductase deficiency 30.1 POR FGFR2
6 chromosome 2q35 duplication syndrome 30.0 TWIST1 LRP4 FGFR3 FGFR2 FGFR1
7 renal hypodysplasia/aplasia 1 30.0 HOXA11 FGFR2 FGFR1
8 humeroradial synostosis 30.0 SF3B4 POR FGFR2
9 synostosis 29.8 TWIST1 SMAD6 SF3B4 SALL4 RECQL4 POR
10 cleft palate, isolated 29.6 TWIST1 SF3B4 FGFR3 FGFR2 FGFR1 EFTUD2
11 dysostosis 29.1 TWIST1 SF3B4 RNU4ATAC FGFR3 FGFR2 FGFR1
12 antley-bixler syndrome 29.1 POR FGFRL1 FGFR3 FGFR2 FGFR1
13 craniosynostosis 28.8 TWIST1 SMAD6 RECQL4 POR FGFRL1 FGFR3
14 radioulnar synostosis, nonsyndromic 11.8
15 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 11.8
16 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 11.7
17 radioulnar synostosis-microcephaly-scoliosis syndrome 11.6
18 humeroradioulnar synostosis 11.5
19 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 11.5
20 radio-ulnar synostosis type 1 11.5
21 radio-ulnar synostosis type 2 11.5
22 congenital heart disease radio ulnar synostosis mental retardation 11.4
23 der kaloustian mcintosh silver syndrome 11.3
24 jorgenson lenz syndrome 11.3
25 radio-ulnar synostosis, unilateral 11.3
26 radio-ulnar synostosis, bilateral 11.3
27 tibia, hypoplasia or aplasia of, with polydactyly 11.3
28 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 11.3
29 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 11.3
30 3mc syndrome 11.3
31 acrofacial dysostosis 1, nager type 11.3
32 cenani-lenz syndactyly syndrome 11.3
33 radioulnar synostosis, radial ray abnormalities, and severe malformations in the male 11.2
34 nievergelt syndrome 11.2
35 48,xyyy 11.2
36 3mc syndrome 1 11.1
37 48, xxxx 11.1
38 oslam syndrome 11.1
39 3mc syndrome 3 11.1
40 3mc syndrome 2 11.1
41 abruzzo-erickson syndrome 11.1
42 hypogonadotropic hypogonadism 11.1
43 49, xxxxx 11.1
44 48,xxxy syndrome 11.1
45 48,xxyy syndrome 11.1
46 49, xxxxy syndrome 11.1
47 hypotonia 10.3
48 microcephaly 10.3
49 ankylosis 10.3
50 47,xyy 10.3

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



Diseases related to Radioulnar Synostosis
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Symptoms & Phenotypes for Radioulnar Synostosis

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Human phenotypes related to Radioulnar Synostosis:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 radioulnar synostosis 31 hallmark (90%) HP:0002974
2 limited pronation/supination of forearm 31 hallmark (90%) HP:0006394
3 abnormal morphology of the radius 31 hallmark (90%) HP:0045009
4 abnormal morphology of ulna 31 hallmark (90%) HP:0040071
5 dislocated radial head 31 occasional (7.5%) HP:0003083
6 shoulder pain 31 occasional (7.5%) HP:0030834
7 abnormality of the musculature of the upper arm 31 occasional (7.5%) HP:0001457
8 wrist pain 31 occasional (7.5%) HP:0030836
9 congenital hip dislocation 31 very rare (1%) HP:0001374
10 talipes equinovarus 31 very rare (1%) HP:0001762
11 polydactyly 31 very rare (1%) HP:0010442
12 syndactyly 31 very rare (1%) HP:0001159

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.17 B3GALT6 B3GAT3 FGFR3 MECOM SALL4 TWIST1

MGI Mouse Phenotypes related to Radioulnar Synostosis:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.29 B3GAT3 FGFR1 FGFR2 FGFR3 FGFRL1 HOXA11
2 behavior/neurological MP:0005386 10.27 B3GALT6 EFTUD2 FGFR1 FGFR2 FGFR3 FGFRL1
3 mortality/aging MP:0010768 10.25 B3GALT6 B3GAT3 EFTUD2 FGFR1 FGFR2 FGFR3
4 growth/size/body region MP:0005378 10.22 EFTUD2 FGFR1 FGFR2 FGFR3 FGFRL1 LRP4
5 craniofacial MP:0005382 10.2 FGFR1 FGFR2 FGFR3 FGFRL1 LRP4 MECOM
6 embryo MP:0005380 10.17 EFTUD2 FGFR1 FGFR2 FGFRL1 LRP4 MECOM
7 limbs/digits/tail MP:0005371 10.07 FGFR1 FGFR2 FGFR3 HOXA11 LRP4 MECOM
8 muscle MP:0005369 9.86 FGFR1 FGFR2 FGFRL1 LRP4 MECOM POR
9 renal/urinary system MP:0005367 9.76 FGFR1 FGFR2 FGFR3 FGFRL1 HOXA11 LRP4
10 reproductive system MP:0005389 9.61 EFTUD2 FGFR1 FGFR2 FGFR3 HOXA11 LRP4
11 skeleton MP:0005390 9.4 FGFR1 FGFR2 FGFR3 FGFRL1 HOXA11 LRP4
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Drugs & Therapeutics for Radioulnar Synostosis

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Search Clinical Trials , NIH Clinical Center for Radioulnar Synostosis

Cochrane evidence based reviews: radioulnar synostosis

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Genetic Tests for Radioulnar Synostosis

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Genetic tests related to Radioulnar Synostosis:

# Genetic test Affiliating Genes
1 Radioulnar Synostosis 29
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Anatomical Context for Radioulnar Synostosis

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MalaCards organs/tissues related to Radioulnar Synostosis:

40
Bone Marrow, Eye
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Publications for Radioulnar Synostosis

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Articles related to Radioulnar Synostosis:

(show top 50) (show all 295)
# Title Authors PMID Year
1
SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis. 6 61
31138930 2019
2
Congenital radioulnar synostosis - case report. 61 20
22802806 2010
3
A Three-Step Method for the Treatment of Radioulnar Synostosis with Posterior Radial Head Dislocation. 61
33559562 2021
4
Synostosis after fracture of both forearm bones treated by intramedullary nailing. 61
32814121 2021
5
Application of 3-Dimensional Printing Technology in Rotational Osteotomy of Congenital Radioulnar Synostosis. 61
33526295 2021
6
Heterotopic ossification formation after fractures about the elbow. 61
33389077 2021
7
Results after treatment of congenital radioulnar synostosis: a systematic review and pooled data analysis. 61
33315801 2020
8
Management of Monteggia Injuries in the Adult. 61
33040960 2020
9
Idiopathic Proximal Radioulnar Synostosis - A Rare Case Report and Review of Literature. 61
33585316 2020
10
Congenital proximal radioulnar synostosis-a case report. 61
32612731 2020
11
Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome. 61
32751929 2020
12
ZMAT2, a newly-identified potential disease-causing gene in congenital radioulnar synostosis, modulates BMP signaling. 61
32247068 2020
13
[Treatment of congenital radioulnar synostosis with radial derotational osteotomy and local subcutaneous pedicled fat flap filling in fusion area]. 61
32666722 2020
14
Is short-term hand therapy effective in a child with congenital radioulnar synostosis? A case report. 61
30956071 2020
15
Osteogenesis imperfecta type 1 with an incidental finding of bilateral radioulnar synostosis. 61
32282353 2020
16
Radial Pronation Angle: A Novel Radiological Evaluation Index of Congenital Proximal Radioulnar Synostosis. 61
32294071 2020
17
Congenital unilateral proximal radioulnar synostosis: A surgical case report. 61
32311987 2020
18
Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXY. 61
32243688 2020
19
Unusual presentation of congenital radioulnar synostosis with osteoporosis, fragility fracture and nonunion: A case report and review of literature. 61
32368548 2020
20
Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia. 61
31895055 2020
21
Bilateral congenital radioulnar synostosis in an Early Horizon subadult burial from the site of Atalla, Peru. 61
31837490 2020
22
Post-traumatic proximal radioulnar synostosis: results of surgical treatment and review of the literature. 61
31570186 2020
23
Rare Complication of Distal Radius and Ulnar Styloid Fractures with Percutaneous Fixation: A Case Report on Distal Radioulnar Synostosis. 61
32224642 2020
24
Congenital radioulnar synostosis presenting in adulthood - a case report. 61
32774634 2020
25
Correction: SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis. 61
31178591 2019
26
Use of Acellular Dermal Matrix to Prevent Recurrence of Radioulnar Heterotopic Ossification. 61
31624673 2019
27
Treating bilateral congenital radioulnar synostosis using the reverse Sauvé-Kapandji procedure. 61
30776944 2019
28
A novel mutation in the MECOM gene causing radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT-2) in an infant. 61
30536840 2019
29
Double incision repair technique with immediate mobilization for acute distal biceps tendon ruptures provides good results after 2 years in active patients. 61
30528138 2019
30
Union Rates and Reported Range of Motion Are Acceptable After Open Forearm Fractures in Military Combatants. 61
30811353 2019
31
Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum. 61
30031153 2019
32
Efficacy and feasibility of proximal radioulnar derotational osteotomy and internal fixation for the treatment of congenital radioulnar synostosis. 61
30894220 2019
33
Ulnar osteotomy and the ilizarov mini-fixator for pediatric chronic monteggia fracture-dislocations. 61
30608438 2019
34
Major complications after distal biceps tendon repairs: retrospective cohort analysis of 970 cases. 61
30139681 2018
35
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN. 61
30088856 2018
36
Three-dimensional analysis of deformities of the radius and ulna in congenital proximal radioulnar synostosis. 61
29402171 2018
37
Long-term results after simple rotational osteotomy of the radius shaft for congenital radioulnar synostosis. 61
30016690 2018
38
The reverse Sauvé-Kapandji procedure for the treatment of (posttraumatic) proximal radioulnar synostosis. 61
29520493 2018
39
Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease. 61
29519864 2018
40
Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool. 61
30160832 2018
41
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly. 61
30041615 2018
42
[Karyptype 48,XXXY/49,XXXXY and proximal radioulnar synostosis]. 61
28750730 2018
43
MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia. 61
29540340 2018
44
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation. 61
28771243 2018
45
Klippel-Feil Syndrome with Sprengel Deformity and Extensive Upper Extremity Deformity: A Case Report and Literature Review. 61
29492320 2018
46
A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia. 61
29200407 2018
47
Posttraumatic Proximal Radioulnar Synostosis after Closed Reduction for a Radial Neck and Olecranon Fracture. 61
29805828 2018
48
Circumferential Adipofascial Graft for Prevention of Recurrence of Posttraumatic Radioulnar Synostosis. 61
29107381 2017
49
A Newly Designed Intramedullary Nail for the Treatment of Diaphyseal Forearm Fractures in Adults. 61
29200488 2017
50
Congenital radioulnar synostosis. 61
28828125 2017
Sources

Variations for Radioulnar Synostosis

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ClinVar genetic disease variations for Radioulnar Synostosis:

6 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMAD6 NM_005585.5(SMAD6):c.613T>A (p.Cys205Ser) SNV Uncertain significance, risk factor 690412 rs1595757271 15:66996209-66996209 15:66703871-66703871
2 SMAD6 NM_005585.5(SMAD6):c.1050C>G (p.Tyr350Ter) SNV Uncertain significance, risk factor 690426 rs200493039 15:67073432-67073432 15:66781094-66781094
3 SMAD6 NM_005585.5(SMAD6):c.1304_1313dup (p.Phe439fs) Duplication Uncertain significance, risk factor 690427 rs1595805211 15:67073684-67073685 15:66781346-66781347
4 SMAD6 NM_005585.5(SMAD6):c.1412G>A (p.Gly471Asp) SNV Uncertain significance, risk factor 690428 rs1595805424 15:67073794-67073794 15:66781456-66781456
5 SMAD6 NM_005585.5(SMAD6):c.465_471del (p.Gly156fs) Microsatellite Uncertain significance, risk factor 638816 rs958818801 15:66996051-66996057 15:66703713-66703719
6 SMAD6 NM_005585.5(SMAD6):c.345G>A (p.Trp115Ter) SNV Pathogenic 690419 rs1231501584 15:66995941-66995941 15:66703603-66703603
7 SMAD6 NM_005585.5(SMAD6):c.943G>T (p.Glu315Ter) SNV Pathogenic 690420 rs1595766210 15:67008827-67008827 15:66716489-66716489
8 SMAD6 NM_005585.5(SMAD6):c.106dup (p.Asp36fs) Duplication Pathogenic 690422 rs1595756416 15:66995700-66995701 15:66703362-66703363
9 SMAD6 NM_005585.5(SMAD6):c.589del (p.Ser197fs) Deletion Pathogenic 690424 rs1595757203 15:66996185-66996185 15:66703847-66703847
10 SMAD6 NM_005585.5(SMAD6):c.223C>T (p.Arg75Ter) SNV Pathogenic 690410 rs1595756640 15:66995819-66995819 15:66703481-66703481
11 SMAD6 NM_005585.5(SMAD6):c.389C>A (p.Ser130Ter) SNV Pathogenic 690415 rs1160042861 15:66995985-66995985 15:66703647-66703647
12 SMAD6 NM_005585.5(SMAD6):c.263_264delinsT (p.Gly88fs) Indel Likely pathogenic 690416 rs1595756703 15:66995859-66995860 15:66703521-66703522
13 SMAD6 NM_005585.5(SMAD6):c.461G>A (p.Gly154Asp) SNV Likely pathogenic 690425 rs1595756962 15:66996057-66996057 15:66703719-66703719
14 SMAD6 NM_005585.5(SMAD6):c.458_464CGGGCGG[3] (p.Ser158fs) Microsatellite Likely pathogenic 405520 rs958818801 15:66996050-66996051 15:66703712-66703713
15 SMAD6 NM_005585.5(SMAD6):c.442del (p.Ala148fs) Deletion Uncertain significance 690423 rs1595756920 15:66996035-66996035 15:66703697-66703697
16 SMAD6 NM_005585.5(SMAD6):c.837C>G (p.Tyr279Ter) SNV Uncertain significance 690421 rs1595763070 15:67004025-67004025 15:66711687-66711687
17 SMAD6 NM_005585.5(SMAD6):c.1016A>C (p.His339Pro) SNV Uncertain significance 690413 rs142278375 15:67073398-67073398 15:66781060-66781060
18 SMAD6 NM_005585.5(SMAD6):c.1339C>T (p.Gln447Ter) SNV Uncertain significance 690414 rs1595805270 15:67073721-67073721 15:66781383-66781383
19 SMAD6 NM_005585.5(SMAD6):c.452_458del (p.Glu151fs) Deletion Uncertain significance 690417 rs1595756941 15:66996048-66996054 15:66703710-66703716
20 SMAD6 NM_005585.5(SMAD6):c.560C>T (p.Ser187Leu) SNV Uncertain significance 690418 rs1359442505 15:66996156-66996156 15:66703818-66703818
21 SMAD6 NM_005585.5(SMAD6):c.800G>A (p.Ser267Asn) SNV Uncertain significance 690411 rs1396117157 15:66996396-66996396 15:66704058-66704058
22 SMAD6 NM_005585.5(SMAD6):c.649G>C (p.Gly217Arg) SNV Uncertain significance 690407 rs1222990058 15:66996245-66996245 15:66703907-66703907
23 SMAD6 NM_005585.5(SMAD6):c.1109A>G (p.Gln370Arg) SNV Uncertain significance 690408 rs1567115899 15:67073491-67073491 15:66781153-66781153
24 SMAD6 NM_005585.5(SMAD6):c.900C>A (p.Tyr300Ter) SNV Uncertain significance 690409 rs767259025 15:67008784-67008784 15:66716446-66716446
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Expression for Radioulnar Synostosis

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Search GEO for disease gene expression data for Radioulnar Synostosis.
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Pathways for Radioulnar Synostosis

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Negative regulation of FGFR1 signaling 65
Show member pathways
 12.32 FGFRL1 FGFR3 FGFR2 FGFR1
2
mTOR signaling pathway (KEGG) 36
Show member pathways
 12.23 FGFRL1 FGFR3 FGFR2 FGFR1
3
MAPK Signaling: Mitogen Stimulation Pathway 64
Show member pathways
 11.96 FGFRL1 FGFR3 FGFR2 FGFR1
4
Signaling by FGFR2 65
Show member pathways
 11.91 FGFRL1 FGFR3 FGFR2 FGFR1
5
VEGF Signaling 66
Show member pathways
 11.82 SMAD6 FGFRL1 FGFR3 FGFR2 FGFR1
6
Angiogenesis (CST) 4
11.56 FGFR3 FGFR2 FGFR1
7
Central carbon metabolism in cancer 36
11.43 FGFR3 FGFR2 FGFR1
8
heparan sulfate biosynthesis 1
Show member pathways
 11.38 B4GALT7 B3GAT3 B3GALT6
9
Alzheimers Disease Pathway 63
11.09 FGFR3 FGFR2 FGFR1
10
Vemurafenib Pathway, Pharmacodynamics 60
10.97 FGFR3 FGFR2 FGFR1
11
Neural Crest Differentiation 1
10.93 TWIST1 FGFR3 FGFR2 FGFR1
Sources

GO Terms for Radioulnar Synostosis

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Cellular components related to Radioulnar Synostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.17 SMAD6 FGFRL1 FGFR3 FGFR2 B4GALT7 B3GAT3

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.92 TWIST1 RECQL4 MECOM LRP4 HOXA11 FGFR3
2 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.72 FGFR3 FGFR2 FGFR1
3 positive regulation of MAPK cascade GO:0043410 9.71 FGFR3 FGFR2 FGFR1
4 positive regulation of kinase activity GO:0033674 9.67 FGFR3 FGFR2 FGFR1
5 bone development GO:0060348 9.61 TWIST1 HOXA11 FGFR2
6 embryonic digit morphogenesis GO:0042733 9.58 TWIST1 LRP4 HOXA11
7 negative regulation of ossification GO:0030279 9.57 SMAD6 LRP4
8 proteoglycan biosynthetic process GO:0030166 9.56 B4GALT7 B3GALT6
9 fibroblast growth factor receptor signaling pathway GO:0008543 9.56 FGFRL1 FGFR3 FGFR2 FGFR1
10 glycosaminoglycan biosynthetic process GO:0006024 9.54 B4GALT7 B3GAT3 B3GALT6
11 positive regulation of chondrocyte differentiation GO:0032332 9.52 POR HOXA11
12 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.51 B3GAT3 B3GALT6
13 endochondral bone growth GO:0003416 9.48 FGFR3 FGFR2
14 mitral valve morphogenesis GO:0003183 9.46 TWIST1 SMAD6
15 glycosaminoglycan metabolic process GO:0030203 9.33 B4GALT7 B3GAT3 B3GALT6
16 embryonic limb morphogenesis GO:0030326 9.26 TWIST1 SALL4 LRP4 HOXA11
17 positive regulation of phospholipase activity GO:0010518 8.8 FGFR3 FGFR2 FGFR1

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.72 TWIST1 MECOM LRP4 FGFR2 FGFR1
2 protein tyrosine kinase activity GO:0004713 9.43 FGFR3 FGFR2 FGFR1
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 FGFR3 FGFR2 FGFR1
4 fibroblast growth factor binding GO:0017134 9.26 FGFRL1 FGFR3 FGFR2 FGFR1
5 fibroblast growth factor-activated receptor activity GO:0005007 8.92 FGFRL1 FGFR3 FGFR2 FGFR1
Sources

Sources for Radioulnar Synostosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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