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MCID: RDL002
MIFTS: 45

Radioulnar Synostosis

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

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MalaCards integrated aliases for Radioulnar Synostosis:

Name: Radioulnar Synostosis 12 52 29 6 43 15 71
Congenital Radioulnar Synostosis 52
Radio-Ulnar Synostosis Type 1 71
Radial-Ulnar Synostosis 52
Radio-Ulnar Synostosis 52

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 43 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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NIH Rare Diseases : 52 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 FGFR3 signaling and mTOR signaling pathway (KEGG). Affiliated tissues include bone, bone marrow and eye, and related phenotypes are shRNA abundance <= 50% and cellular

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 157)
# Related Disease Score Top Affiliating Genes
1 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 33.7 MECOM HOXA11
2 saethre-chotzen syndrome 31.7 TWIST1 RECQL4 FGFR3 FGFR2 FGFR1
3 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 30.5 POR FGFR2
4 humeroradial synostosis 30.3 SF3B4 POR FGFR2
5 hydrocephalus 30.0 TWIST1 FGFR3 FGFR2 FGFR1
6 chromosome 2q35 duplication syndrome 29.5 TWIST1 PES1 LRP4 FGFR3 FGFR2 FGFR1
7 cleft palate, isolated 29.5 TWIST1 SF3B4 PES1 FGFR3 FGFR2 FGFR1
8 antley-bixler syndrome 29.4 POR FGFRL1 FGFR3 FGFR2 FGFR1
9 synostosis 29.4 TWIST1 SMAD6 SF3B4 SALL4 RECQL4 POR
10 dysostosis 29.2 TWIST1 SF3B4 RNU4ATAC RECQL4 FGFR3 FGFR2
11 craniosynostosis 28.8 TWIST1 SMAD6 RECQL4 POR FGFRL1 FGFR3
12 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 12.9
13 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 12.9
14 radioulnar synostosis, nonsyndromic 12.9
15 radioulnar synostosis-microcephaly-scoliosis syndrome 12.8
16 radio-ulnar synostosis type 1 12.7
17 radio-ulnar synostosis type 2 12.7
18 congenital heart disease radio ulnar synostosis mental retardation 12.6
19 radio-ulnar synostosis, unilateral 12.6
20 radio-ulnar synostosis, bilateral 12.6
21 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 12.6
22 radioulnar synostosis, radial ray abnormalities, and severe malformations in the male 12.5
23 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 12.5
24 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 12.5
25 humeroradioulnar synostosis 12.1
26 der kaloustian mcintosh silver syndrome 12.0
27 jorgenson lenz syndrome 11.9
28 3mc syndrome 11.9
29 48,xyyy 11.7
30 3mc syndrome 1 11.7
31 48, xxxx 11.7
32 tibia, hypoplasia or aplasia of, with polydactyly 11.7
33 acrofacial dysostosis 1, nager type 11.5
34 cenani-lenz syndactyly syndrome 11.5
35 nievergelt syndrome 11.4
36 oslam syndrome 11.4
37 3mc syndrome 3 11.4
38 3mc syndrome 2 11.4
39 abruzzo-erickson syndrome 11.4
40 hypogonadotropic hypogonadism 11.4
41 49, xxxxx 11.4
42 48,xxxy syndrome 11.4
43 48,xxyy syndrome 11.4
44 49, xxxxy syndrome 11.4
45 47,xyy 10.6
46 hypotonia 10.5
47 microcephaly 10.5
48 ankylosis 10.5
49 williams-beuren syndrome 10.4
50 ptosis 10.4

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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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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 B3GAT3 FGFR1 FGFR2 FGFR3 FGFRL1 HOXA11
2 craniofacial MP:0005382 10.21 FGFR1 FGFR2 FGFR3 FGFRL1 LRP4 MECOM
3 mortality/aging MP:0010768 10.19 B3GALT6 B3GAT3 FGFR1 FGFR2 FGFR3 FGFRL1
4 growth/size/body region MP:0005378 10.18 FGFR1 FGFR2 FGFR3 FGFRL1 LRP4 MECOM
5 embryo MP:0005380 10.14 FGFR1 FGFR2 FGFRL1 LRP4 MECOM PES1
6 limbs/digits/tail MP:0005371 10.02 FGFR1 FGFR2 FGFR3 HOXA11 LRP4 MECOM
7 muscle MP:0005369 9.76 FGFR1 FGFR2 FGFRL1 LRP4 MECOM POR
8 renal/urinary system MP:0005367 9.56 FGFR1 FGFR2 FGFR3 FGFRL1 HOXA11 LRP4
9 skeleton MP:0005390 9.4 FGFR1 FGFR2 FGFR3 FGFRL1 HOXA11 LRP4
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Drugs & Therapeutics for Radioulnar Synostosis

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study Recruiting NCT00027274

Search 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, Bone Marrow, Eye, Brain, Heart, Kidney, Ovary
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Publications for Radioulnar Synostosis

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Articles related to Radioulnar Synostosis:

(show top 50) (show all 288)
# Title Authors PMID Year
1
Congenital radioulnar synostosis - case report. 52 61
22802806 2010
2
Osteogenesis imperfecta type 1 with an incidental finding of bilateral radioulnar synostosis. 61
32282353 2020
3
ZMAT2, a newly-identified potential disease-causing gene in congenital radioulnar synostosis, modulates BMP signaling. 61
32247068 2020
4
Radial Pronation Angle: A Novel Radiological Evaluation Index of Congenital Proximal Radioulnar Synostosis. 61
32294071 2020
5
Congenital unilateral proximal radioulnar synostosis: A surgical case report. 61
32311987 2020
6
Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXY. 61
32243688 2020
7
Unusual presentation of congenital radioulnar synostosis with osteoporosis, fragility fracture and nonunion: A case report and review of literature. 61
32368548 2020
8
Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia. 61
31895055 2020
9
Bilateral congenital radioulnar synostosis in an Early Horizon subadult burial from the site of Atalla, Peru. 61
31837490 2020
10
Post-traumatic proximal radioulnar synostosis: results of surgical treatment and review of the literature. 61
31570186 2020
11
Rare Complication of Distal Radius and Ulnar Styloid Fractures with Percutaneous Fixation: A Case Report on Distal Radioulnar Synostosis. 61
32224642 2020
12
SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis. 61
31138930 2019
13
Correction: SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis. 61
31178591 2019
14
Use of Acellular Dermal Matrix to Prevent Recurrence of Radioulnar Heterotopic Ossification. 61
31624673 2019
15
Treating bilateral congenital radioulnar synostosis using the reverse Sauvé-Kapandji procedure. 61
30776944 2019
16
Is short-term hand therapy effective in a child with congenital radioulnar synostosis? A case report. 61
30956071 2019
17
Union Rates and Reported Range of Motion Are Acceptable After Open Forearm Fractures in Military Combatants. 61
30811353 2019
18
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
19
A novel mutation in the MECOM gene causing radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT-2) in an infant. 61
30536840 2019
20
Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum. 61
30031153 2019
21
Efficacy and feasibility of proximal radioulnar derotational osteotomy and internal fixation for the treatment of congenital radioulnar synostosis. 61
30894220 2019
22
Ulnar osteotomy and the ilizarov mini-fixator for pediatric chronic monteggia fracture-dislocations. 61
30608438 2019
23
Major complications after distal biceps tendon repairs: retrospective cohort analysis of 970 cases. 61
30139681 2018
24
Three-dimensional analysis of deformities of the radius and ulna in congenital proximal radioulnar synostosis. 61
29402171 2018
25
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN. 61
30088856 2018
26
The reverse Sauvé-Kapandji procedure for the treatment of (posttraumatic) proximal radioulnar synostosis. 61
29520493 2018
27
Long-term results after simple rotational osteotomy of the radius shaft for congenital radioulnar synostosis. 61
30016690 2018
28
Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool. 61
30160832 2018
29
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly. 61
30041615 2018
30
Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease. 61
29519864 2018
31
[Karyptype 48,XXXY/49,XXXXY and proximal radioulnar synostosis]. 61
28750730 2018
32
MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia. 61
29540340 2018
33
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation. 61
28771243 2018
34
Klippel-Feil Syndrome with Sprengel Deformity and Extensive Upper Extremity Deformity: A Case Report and Literature Review. 61
29492320 2018
35
A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia. 61
29200407 2018
36
Posttraumatic Proximal Radioulnar Synostosis after Closed Reduction for a Radial Neck and Olecranon Fracture. 61
29805828 2018
37
Circumferential Adipofascial Graft for Prevention of Recurrence of Posttraumatic Radioulnar Synostosis. 61
29107381 2017
38
A Newly Designed Intramedullary Nail for the Treatment of Diaphyseal Forearm Fractures in Adults. 61
29200488 2017
39
Congenital radioulnar synostosis. 61
28828125 2017
40
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome. 61
28882145 2017
41
Combined physeal fractures of the distal radius and ulna: complications associated with K-wire fixation and long-term prognosis in six cats. 61
27354228 2017
42
Analysis of complications after a floating elbow injury. 61
27738769 2017
43
The use of indomethacin in the prevention of postoperative radioulnar synostosis after distal biceps repair. 61
28104092 2017
44
The Dorsoulnar Artery Perforator Adipofascial Flap in the Treatment of Distal Radioulnar Synostosis. 61
28811948 2017
45
Distal radioulnar synostosis after primary combined replacements for treatment of highly comminuted distal radius fracture in an elderly patient. 61
26598107 2017
46
Closed reduction using the percutaneous leverage technique and internal fixation with K-wires to treat angulated radial neck fractures in children-case report. 61
28072734 2017
47
[Elastic stable intramedullary nailing (ESIN) in the treatment of both-bone forearm fractures in the child: about 87 cases]. 61
28819489 2017
48
Optimal management of post-traumatic radioulnar synostosis. 61
30774482 2017
49
Bioabsorbable Pin Fixation in Late Presenting Pediatric Radial Neck Fractures. 61
26090971 2016
50
Pre- and postoperative complications of adult forearm fractures treated with plate fixation. 61
27499115 2016
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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.106dup (p.Asp36fs)duplication Pathogenic 690422 15:66995700-66995701 15:66703362-66703363
2 SMAD6 NM_005585.5(SMAD6):c.223C>T (p.Arg75Ter)SNV Pathogenic 690410 15:66995819-66995819 15:66703481-66703481
3 SMAD6 NM_005585.5(SMAD6):c.345G>A (p.Trp115Ter)SNV Pathogenic 690419 15:66995941-66995941 15:66703603-66703603
4 SMAD6 NM_005585.5(SMAD6):c.389C>A (p.Ser130Ter)SNV Pathogenic 690415 15:66995985-66995985 15:66703647-66703647
5 SMAD6 NM_005585.5(SMAD6):c.589del (p.Ser197fs)deletion Pathogenic 690424 15:66996185-66996185 15:66703847-66703847
6 SMAD6 NM_005585.5(SMAD6):c.943G>T (p.Glu315Ter)SNV Pathogenic 690420 15:67008827-67008827 15:66716489-66716489
7 SMAD6 NM_005585.5(SMAD6):c.461G>A (p.Gly154Asp)SNV Likely pathogenic 690425 15:66996057-66996057 15:66703719-66703719
8 SMAD6 NM_005585.5(SMAD6):c.613T>A (p.Cys205Ser)SNV risk factor 690412 15:66996209-66996209 15:66703871-66703871
9 SMAD6 NM_005585.5(SMAD6):c.263_264delinsT (p.Gly88fs)indel Likely pathogenic 690416 15:66995859-66995860 15:66703521-66703522
10 SMAD6 NM_005585.5(SMAD6):c.1050C>G (p.Tyr350Ter)SNV risk factor 690426 15:67073432-67073432 15:66781094-66781094
11 SMAD6 NM_005585.5(SMAD6):c.1304_1313dup (p.Phe439fs)duplication risk factor 690427 15:67073684-67073685 15:66781346-66781347
12 SMAD6 NM_005585.5(SMAD6):c.1412G>A (p.Gly471Asp)SNV risk factor 690428 15:67073794-67073794 15:66781456-66781456
13 SMAD6 NM_005585.5(SMAD6):c.1339C>T (p.Gln447Ter)SNV Uncertain significance 690414 15:67073721-67073721 15:66781383-66781383
14 SMAD6 NM_005585.5(SMAD6):c.1109A>G (p.Gln370Arg)SNV Uncertain significance 690408 15:67073491-67073491 15:66781153-66781153
15 SMAD6 NM_005585.5(SMAD6):c.458_464CGGGCGG[3] (p.Ser158fs)short repeat Uncertain significance 405520 rs958818801 15:66996050-66996051 15:66703712-66703713
16 SMAD6 NM_005585.5(SMAD6):c.458_464CGGGCGG[1] (p.Gly156fs)short repeat Uncertain significance 638816 15:66996051-66996057 15:66703713-66703719
17 SMAD6 NM_005585.5(SMAD6):c.442del (p.Ala148fs)deletion Uncertain significance 690423 15:66996035-66996035 15:66703697-66703697
18 SMAD6 NM_005585.5(SMAD6):c.452_458del (p.Glu151fs)deletion Uncertain significance 690417 15:66996048-66996054 15:66703710-66703716
19 SMAD6 NM_005585.5(SMAD6):c.649G>C (p.Gly217Arg)SNV Uncertain significance 690407 15:66996245-66996245 15:66703907-66703907
20 SMAD6 NM_005585.5(SMAD6):c.800G>A (p.Ser267Asn)SNV Uncertain significance 690411 15:66996396-66996396 15:66704058-66704058
21 SMAD6 NM_005585.5(SMAD6):c.837C>G (p.Tyr279Ter)SNV Uncertain significance 690421 15:67004025-67004025 15:66711687-66711687
22 SMAD6 NM_005585.5(SMAD6):c.900C>A (p.Tyr300Ter)SNV Uncertain significance 690409 15:67008784-67008784 15:66716446-66716446
23 SMAD6 NM_005585.5(SMAD6):c.560C>T (p.Ser187Leu)SNV Uncertain significance 690418 15:66996156-66996156 15:66703818-66703818
24 SMAD6 NM_005585.5(SMAD6):c.1016A>C (p.His339Pro)SNV Uncertain significance 690413 15:67073398-67073398 15:66781060-66781060
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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 FGFR3 signaling 65
Show member pathways
 12.29 FGFRL1 FGFR3 FGFR2 FGFR1
2
mTOR signaling pathway (KEGG) 36
Show member pathways
 12.23 FGFRL1 FGFR3 FGFR2 FGFR1
3
MAPK Signaling: Mitogens 64
Show member pathways
 11.98 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 27)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.93 ZNF407 MECOM HOXA11 FGFR1
2 multicellular organism development GO:0007275 9.92 TWIST1 RECQL4 MECOM LRP4 HOXA11 FGFR3
3 in utero embryonic development GO:0001701 9.88 TWIST1 SALL4 FGFR2 FGFR1
4 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.8 FGFR3 FGFR2 FGFR1
5 positive regulation of MAPK cascade GO:0043410 9.8 FGFR3 FGFR2 FGFR1
6 skeletal system development GO:0001501 9.8 HOXA11 FGFRL1 FGFR3 FGFR1
7 positive regulation of kinase activity GO:0033674 9.76 FGFR3 FGFR2 FGFR1
8 bone development GO:0060348 9.7 TWIST1 HOXA11 FGFR2
9 embryonic digit morphogenesis GO:0042733 9.69 TWIST1 LRP4 HOXA11
10 ureteric bud development GO:0001657 9.65 SMAD6 FGFR2 FGFR1
11 positive regulation of chondrocyte differentiation GO:0032332 9.62 POR HOXA11
12 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.61 B3GAT3 B3GALT6
13 branching involved in salivary gland morphogenesis GO:0060445 9.61 FGFR2 FGFR1
14 glycosaminoglycan biosynthetic process GO:0006024 9.61 B4GALT7 B3GAT3 B3GALT6
15 organ induction GO:0001759 9.6 HOXA11 FGFR1
16 mesenchymal cell differentiation GO:0048762 9.59 FGFR2 FGFR1
17 lung-associated mesenchyme development GO:0060484 9.57 FGFR2 FGFR1
18 outer ear morphogenesis GO:0042473 9.56 TWIST1 FGFR1
19 fibroblast growth factor receptor signaling pathway GO:0008543 9.56 FGFRL1 FGFR3 FGFR2 FGFR1
20 endochondral bone growth GO:0003416 9.55 FGFR3 FGFR2
21 mitral valve morphogenesis GO:0003183 9.54 TWIST1 SMAD6
22 orbitofrontal cortex development GO:0021769 9.46 FGFR2 FGFR1
23 ventricular zone neuroblast division GO:0021847 9.4 FGFR2 FGFR1
24 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.37 FGFR2 FGFR1
25 glycosaminoglycan metabolic process GO:0030203 9.33 B4GALT7 B3GAT3 B3GALT6
26 positive regulation of phospholipase activity GO:0010518 9.13 FGFR3 FGFR2 FGFR1
27 embryonic limb morphogenesis GO:0030326 9.02 TWIST1 SALL4 LRP4 HOXA11 FGFR1

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.43 FGFR3 FGFR2 FGFR1
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 FGFR3 FGFR2 FGFR1
3 fibroblast growth factor binding GO:0017134 9.26 FGFRL1 FGFR3 FGFR2 FGFR1
4 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
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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