MCID: HMR015
MIFTS: 24

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 11 46 13
Humero-Radial Fusion 11
 
Ramer Ladda Syndrome 66

Characteristics:



Classifications:



External Ids:

Disease Ontology11 DOID:0060467
ICD1028 Q74.0

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 related mouse phenotypes are muscle and cardiovascular system.

Related Diseases for Humeroradial Synostosis

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1ramer ladda syndrome11.3
2humero-radial synostosis, unilateral11.3
3humero-radial synostosis, bilateral11.3
4synostosis10.6
5apert syndrome10.1
6ischemic bone disease9.7FGFR2, NOG
7serous conjunctivitis except viral9.7FGFR2, NOG
8vulvovaginitis9.6FGFR2, NOG
9retinitis pigmentosa 29.5FGFR2, STMN1
10hypertrophic cardiomyopathy9.4FGFR2, NOG
11zika fever9.0FGFR2, NOG, STMN1

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:

34
Bone

Animal Models for Humeroradial Synostosis or affiliated genes

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MGI Mouse Phenotypes related to Humeroradial Synostosis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6FGFR2, NOG, STMN1
2MP:00053858.5FGFR2, NOG, STMN1
3MP:00028738.2FGFR2, NOG, STMN1

Publications for Humeroradial Synostosis

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Articles related to Humeroradial Synostosis:

idTitleAuthorsYear
1
Congenital humeroradial synostosis: a case report. (25279074)
2012
2
Congenital humeroradial synostosis. (20535461)
2010
3
FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis. (15041782)
2003
4
Humeroradial synostosis and the multiple synostosis syndrome: case report. (12703033)
2003
5
Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure. (12476458)
2003
6
Genetic nosology and counseling of humeroradial synostosis. (7811427)
1994
7
Humeroradial synostosis. (6841611)
1983
8
Congenital symmetrical humeroradial synostosis. (4522661)
1974
9
Humeroradial synostosis. A case report. (4763940)
1973
10
Congenital humeroradial synostosis with other synostotic anomalies. (20268817)
1947

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:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1mesenchymal cell differentiationGO:00487629.8FGFR2, NOG
2epithelial to mesenchymal transitionGO:00018379.7FGFR2, NOG
3in utero embryonic developmentGO:00017019.7FGFR2, NOG
4ureteric bud developmentGO:00016579.6FGFR2, NOG
5positive regulation of epithelial cell proliferationGO:00506799.5FGFR2, NOG
6axonogenesisGO:00074099.0FGFR2, STMN1
7brain developmentGO:00074209.0NOG, STMN1

Sources for Humeroradial Synostosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet