MCID: HMR015
MIFTS: 26

Humeroradial Synostosis malady

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Humeroradial Synostosis

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Aliases & Descriptions for Humeroradial Synostosis:

Name: Humeroradial Synostosis 10 45 12
Humero-Radial Fusion 10
 
Ramer Ladda Syndrome 65

Characteristics:



Classifications:



External Ids:

Disease Ontology10 DOID:0060467
ICD1027 Q74.0
UMLS65 C0431800, C2930865

Summaries for Humeroradial Synostosis

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MalaCards based summary: Humeroradial Synostosis, also known as humero-radial fusion, is related to ramer ladda syndrome and humero-radial synostosis, unilateral, and has symptoms including humeroradial synostosis An important gene associated with Humeroradial Synostosis is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways are Human Embryonic Stem Cell Pluripotency and MAPK signaling pathway. Affiliated tissues include bone and liver, and related mouse phenotypes are normal and cardiovascular system.

Related Diseases for Humeroradial Synostosis

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Graphical network of diseases related to Humeroradial Synostosis:



Diseases related to humeroradial synostosis

Symptoms for Humeroradial Synostosis

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HPO human phenotypes related to Humeroradial Synostosis:

id Description Frequency HPO Source Accession
1 humeroradial synostosis HP:0003041

Drugs & Therapeutics for Humeroradial Synostosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Humeroradial Synostosis

Genetic Tests for Humeroradial Synostosis

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Anatomical Context for Humeroradial Synostosis

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MalaCards organs/tissues related to Humeroradial Synostosis:

33
Bone, Liver

Animal Models for Humeroradial Synostosis or affiliated genes

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MGI Mouse Phenotypes related to Humeroradial Synostosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.6FGFR2, NOG, STMN1
2MP:00053858.5FGFR2, NOG, STMN1
3MP:00053698.2FGFR2, NOG, STMN1

Publications for Humeroradial Synostosis

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Articles related to Humeroradial Synostosis:

idTitleAuthorsYear
1
Prevalence, Severity, and Prognostic Effect of Hepatopulmonary Syndrome in Liver Transplant Candidates. (27020907)
2016
2
Evidence HDAC9 genetic variant associated with ischemic stroke increases risk via promoting carotid atherosclerosis. (23449258)
2013
3
Schizencephaly and borderline personality disorder. (23686060)
2013
4
DAT1 VNTR allele frequencies in the Omani population. (16201143)
2005
5
Epidermal growth factor receptor expression correlates with poor survival in gastric adenocarcinoma from Mexican patients: a multivariate analysis using a standardized immunohistochemical detection system. (15073595)
2004
6
Involvement of p38 signaling pathway in interferon-alpha-mediated antiviral activity toward hepatitis C virus. (15358166)
2004
7
Growth hormone therapy in GH-deficient adults: continuous vs alternate-days treatment. (14517774)
2003
8
Therapeutic options for erythropoietic protoporphyria. (10792248)
2000
9
Future ambulation prognosis as predicted by somatosensory evoked potentials in motor complete and incomplete quadriplegia. (7605182)
1995
10
Aberrant dirofilariasis in a cat. (6698854)
1984

Variations for Humeroradial Synostosis

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Expression for genes affiliated with Humeroradial Synostosis

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Search GEO for disease gene expression data for Humeroradial Synostosis.

Pathways for genes affiliated with Humeroradial Synostosis

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3FGFR2, NOG
29.0FGFR2, STMN1

GO Terms for genes affiliated with Humeroradial Synostosis

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of epithelial cell proliferationGO:00506799.7FGFR2, NOG
2in utero embryonic developmentGO:00017019.6FGFR2, NOG
3epithelial to mesenchymal transitionGO:00018379.6FGFR2, NOG
4axon guidanceGO:00074119.3FGFR2, NOG
5negative regulation of transcription from RNA polymerase II promoterGO:00001229.0FGFR2, NOG

Sources for Humeroradial 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