MCID: HMR015
MIFTS: 27

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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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
6vulvovaginal candidiasis9.7FGFR2, NOG
7critical limb ischemia9.7FGFR2, NOG
8bone deterioration disease9.6FGFR2, NOG
9tarp syndrome9.5FGFR2, STMN1
10botulism9.4FGFR2, NOG
11salt and pepper syndrome9.1FGFR2, 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:

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
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:

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