Aliases & Classifications for Radioulnar Synostosis

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Aliases & Descriptions for Radioulnar Synostosis:

Name: Radioulnar Synostosis 10 12 65

Characteristics:



Classifications:



External Ids:

Disease Ontology10 DOID:9827
ICD1027 Q74.0
SNOMED-CT59 33313004
ICD9CM29 755.53
MeSH36 C562408
UMLS65 C0158761

Summaries for Radioulnar Synostosis

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MalaCards based summary: Radioulnar Synostosis is related to acrofacial dysostosis 1, nager type and radioulnar synostosis with amegakaryocytic thrombocytopenia, and has symptoms including dislocated radial head, radioulnar synostosis and limited elbow extension. An important gene associated with Radioulnar Synostosis is HOXA11 (Homeobox A11). Affiliated tissues include bone, bone marrow and heart, and related mouse phenotypes are renal/urinary system and limbs/digits/tail.

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 102)
idRelated DiseaseScoreTop Affiliating Genes
1acrofacial dysostosis 1, nager type31.0EFTUD2, SF3B4
2radioulnar synostosis with amegakaryocytic thrombocytopenia12.8
3radioulnar synostosis retinal pigment abnormalities12.5
4radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation12.5
5craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome12.5
6radioulnar synostosis-microcephaly-scoliosis syndrome12.5
7radioulnar synostosis-developmental delay-hypotonia syndrome12.5
8congenital radio-ulnar synostosis11.7
9jorgenson lenz syndrome11.7
10nievergelt syndrome11.5
113mc syndrome 210.5
123mc syndrome 110.5
13cenani-lenz syndactyly syndrome10.5
143mc syndrome10.5
15michels syndrome10.5
16tetrasomy x10.5
17obesity10.4
18hepatitis10.4
19esophagitis10.4
20prostatitis10.4
21melanoma10.4
22pneumonia10.4
23thyroiditis10.4
24schizophrenia10.2
25rheumatoid arthritis10.2
26systemic lupus erythematosus10.2
27lung cancer10.2
28prune belly syndrome10.2
29prostate cancer10.2
30breast cancer10.2
31biotinidase deficiency10.2
32bacteremia10.2
33fraser syndrome10.2
34alzheimer disease10.2
35baller-gerold syndrome10.2
36insulin-like growth factor i10.2
37menkes disease10.2
38arthritis10.2
39atherosclerosis10.2
40burns10.2
41charcot-marie-tooth disease10.2
42common variable immunodeficiency10.2
43hydrocephalus10.2
44leukemia10.2
45liver disease10.2
46malignant glioma10.2
47nephrolithiasis10.2
48neuromyelitis optica10.2
49thrombocytopenia10.2
50aspiration pneumonia10.2

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



Diseases related to radioulnar synostosis

Symptoms for Radioulnar Synostosis

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HPO human phenotypes related to Radioulnar Synostosis:

id Description Frequency HPO Source Accession
1 dislocated radial head HP:0003083
2 radioulnar synostosis HP:0002974
3 limited elbow extension HP:0001377

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

Genetic Tests for Radioulnar Synostosis

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Anatomical Context for Radioulnar Synostosis

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MalaCards organs/tissues related to Radioulnar Synostosis:

33
Bone, Bone marrow, Heart, Kidney, Skin, Endothelial, Lung

Animal Models for Radioulnar Synostosis or affiliated genes

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MGI Mouse Phenotypes related to Radioulnar Synostosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6FGFR1, HOXA11, LRP4, SALL4
2MP:00053717.9FGFR1, HOXA11, LRP4, RECQL4, SALL4
3MP:00053827.8FGFR1, LRP4, RECQL4, SALL4
4MP:00053907.7FGFR1, HOXA11, LRP4, RECQL4, SALL4

Publications for Radioulnar Synostosis

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Articles related to Radioulnar Synostosis:

(show top 50)    (show all 103)
idTitleAuthorsYear
1
Antimicrobial resistance, integron carriage, and gyrA and gyrB mutations in Pseudomonas aeruginosa isolated from dogs with otitis externa and pyoderma in Brazil. (26833540)
2016
2
Hidradenitis suppurativa-acne inversa-like lesions complicating naevus comedonicus: second case supporting the mechanical stress as a triggering factor. (27176082)
2016
3
Overexpression of SULT2B1b is an independent prognostic indicator and promotes cell growth and invasion in colorectal carcinoma. (26121319)
2015
4
Autophagy is upregulated in ovarian endometriosis: a possible interplay with p53 and heme oxygenase-1. (25772769)
2015
5
Laminopathy-inducing mutations reduce nuclear import of expressed prelamin A. (24943589)
2014
6
Elevation in multiple serum inflammatory biomarkers predicts survival of pancreatic cancer patients with inoperable disease. (24446242)
2014
7
Impact of preoperative and intraoperative factors in cataract surgery. (23629770)
2013
8
Cardiology patient pages. Lyme disease and the heart. (23429899)
2013
9
A novel donor splice-site mutation of major intrinsic protein gene associated with congenital cataract in a Chinese family. (24319327)
2013
10
Criterion validity of an Attention Deficit Hyperactivity Disorder (ADHD) screening list for screening ADHD in older adults aged 60-94 years. (23567439)
2013
11
STAT6 siRNA matrix-loaded gelatin nanocarriers: formulation, characterization, and ex vivo proof of concept using adenocarcinoma cells. (24191252)
2013
12
Clinical significance of decreased nidogen-2 expression in the tumor tissue and serum of patients with hepatocellular carcinoma. (21815147)
2012
13
Interferon-alpha/beta deficiency greatly exacerbates arthritogenic disease in mice infected with wild-type chikungunya virus but not with the cell culture-adapted live-attenuated 181/25 vaccine candidate. (22305131)
2012
14
Congenital vulvar lipoma within an accessory labioscrotal fold. (21371114)
2011
15
Activation of tumor cell integrin alphavbeta3 controls angiogenesis and metastatic growth in the brain. (19541645)
2009
16
Cerebral sinovenous thrombosis associated with isopropanol ingestion in an infant. (19258296)
2009
17
Comparative proteomic analysis of colon cancer cells in response to oxaliplatin treatment. (19520192)
2009
18
Primary cutaneous B-cell lymphoblastic lymphoma. (19171997)
2008
19
Novel human glioma-associated oncogene 1 (GLI1) splice variants reveal distinct mechanisms in the terminal transduction of the hedgehog signal. (18378682)
2008
20
Medical treatment of juvenile idiopathic arthritis]. (18831464)
2008
21
Plasma levels of thromboxane A2 on admission are associated with no-reflow after primary percutaneous coronary intervention. (18617477)
2008
22
On the spectrum of limb-body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence. (17431896)
2007
23
A study of CD117 expression in dermatofibrosarcoma protuberans and cellular dermatofibroma. (17944726)
2007
24
Association of the kappa-opioid system with alcohol dependence. (16924269)
2006
25
Tetrahymena eukaryotic translation elongation factor 1A (eEF1A) bundles filamentous actin through dimer formation. (16877446)
2006
26
Dexamethasone up-regulates the inhibitory adaptor protein Dok-1 and suppresses downstream activation of the mitogen-activated protein kinase pathway in antigen-stimulated RBL-2H3 mast cells. (15608142)
2005
27
Reduced expression of epidermal growth factor receptor related protein in gastric cancer. (15647181)
2005
28
Anemia in chronic heart failure: pathogenetic mechanisms. (15007793)
2004
29
Finding your way to the end: a tale of GDNF and endothelin-3. (14659083)
2003
30
Localization of heparin cofactor II in injured human skin: a potential role in wound healing. (14516771)
2003
31
Autoantibodies against mannose-binding lectin in systemic lupus erythematosus. (14616796)
2003
32
Deteriorating ischaemic stroke. cytokines, soluble cytokine receptors, ferritin, systemic blood pressure, body temperature, blood glucose, diabetes, stroke severity, and CT infarction-volume as predictors of deteriorating ischaemic stroke. (12163186)
2002
33
Increase in the production of interleukin-10 early after implantation is related to the success of pregnancy. (11775007)
2001
34
Down's syndrome with mucosa-associated lymphoid tissue, thyroid lymphoma and cerebral infarction. (10746421)
2000
35
Normal frequencies of the C677T genotypes on the methylenetetrahydrofolate reductase (MTHFR) gene among lymphoproliferative disorders but not in multiple myeloma. (11342344)
2000
36
Absence of premalignant histologic, molecular, or cell biologic alterations in prophylactic oophorectomy specimens from BRCA1 heterozygotes. (10918170)
2000
37
Deregulated expression of c-Myc in a translocation-negative plasmacytoma on extrachromosomal elements that carry IgH and myc genes. (10570182)
1999
38
Glucagon-like peptide-1 does not mediate amylase release from AR42J cells. (10528233)
1999
39
Anatomy of the shaken baby syndrome. (9556020)
1998
40
Rosai-Dorfman disease and juvenile xanthogranuloma. (9185229)
1997
41
Human whole blood assays for inhibition of prostaglandin G/H synthases-1 and -2 using A23187 and lipopolysaccharide stimulation of thromboxane B2 production. (8737748)
1996
42
Proteinuria and blood pressure as causal components of progression to end-stage renal failure. Northern Italian Cooperative Study Group. (8710157)
1996
43
Atypical skeletal tuberculosis. (8614865)
1995
44
Successful treatment of a Trichosporon beigelii septicemia in a granulocytopenic patient with amphotericin B and granulocyte colony-stimulating factor. (7528173)
1994
45
A marker for neoplastic progression of human melanocytes is a cell surface ectopeptidase. (8096237)
1993
46
Proteins of transcription factor ISGF-3: one gene encodes the 91- and 84-kDa ISGF-3 proteins that are activated by interferon alpha. (1502203)
1992
47
Conformational characteristics of opioid kappa-receptor agonist: crystal structure of (5S,7S,8S)-(-)-N-methyl-N-[7-(1-pyrrolidinyl)-1- oxaspiro[4.5]dec-8-yl]benzeneacetamide (U69,593), and conformational comparison with some kappa-agonists. (2176574)
1990
48
The pathology of anterior (peripheral) proliferative vitreoretinopathy. (2979021)
1988
49
Congenital lobar emphysema: a case with bronchial atresia and abnormal bronchial cartilages. (7093137)
1982
50
Coloboma of the optic nerve entrance. (4959584)
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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GO Terms for genes affiliated with Radioulnar Synostosis

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

idNameGO IDScoreTop Affiliating Genes
1embryonic digit morphogenesisGO:00427339.9HOXA11, LRP4
2regulation of gene expressionGO:00104689.8FGFR1, HOXA11
3proximal/distal pattern formationGO:00099549.6HOXA11, LRP4
4skeletal system developmentGO:00015019.6FGFR1, HOXA11
5embryonic limb morphogenesisGO:00303269.6FGFR1, HOXA11

Sources for Radioulnar Synostosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet