MCID: HMR015
MIFTS: 25

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 47 13
Humero-Radial Fusion 11
 
Ramer Ladda Syndrome 67

Characteristics:


Classifications:



External Ids:

Disease Ontology11 DOID:0060467
ICD1029 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 Signaling pathways regulating pluripotency of stem cells and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include bone, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

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 syndrome11.2
2humero-radial synostosis, unilateral11.2
3humero-radial synostosis, bilateral11.2
4synostosis10.5
5apert syndrome10.0
6serous conjunctivitis except viral9.8FGFR2, NOG
7multiple synostoses syndrome9.7FGFR2, WNT7A
8ischemic bone disease9.7FGFR2, NOG
9retinitis pigmentosa 29.6FGFR2, STMN1
10vulvovaginitis9.5FGFR2, NOG
11zika fever9.2FGFR2, NOG, STMN1

Graphical network of diseases related to Humeroradial Synostosis:



Diseases related to humeroradial synostosis

Symptoms for Humeroradial Synostosis

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Human phenotypes related to Humeroradial Synostosis:

 63
id Description HPO Frequency HPO Source Accession
1 humeroradial synostosis63 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:

35
Bone

Animal Models for Humeroradial Synostosis or affiliated genes

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MGI Mouse Phenotypes related to Humeroradial Synostosis:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.6FGFR2, NOG, WNT7A
2MP:00053719.6FGFR2, NOG, WNT7A
3MP:00053858.8FGFR2, NOG, STMN1, WNT7A
4MP:00036318.7FGFR2, NOG, STMN1, WNT7A
5MP:00028738.0FGFR2, NOG, STMN1, WNT7A

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
19.3FGFR2, WNT7A
2
Show member pathways
8.8FGFR2, NOG, WNT7A

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 17)
idNameGO IDScoreTop Affiliating Genes
1mesenchymal cell differentiationGO:004876210.0FGFR2, NOG
2cell fate commitmentGO:00451659.9FGFR2, WNT7A
3in utero embryonic developmentGO:00017019.9FGFR2, NOG
4epithelial to mesenchymal transitionGO:00018379.9FGFR2, NOG
5ureteric bud developmentGO:00016579.8FGFR2, NOG
6limb developmentGO:00601739.8NOG, WNT7A
7embryonic digit morphogenesisGO:00427339.8NOG, WNT7A
8positive regulation of epithelial cell proliferationGO:00506799.7FGFR2, NOG
9dorsal/ventral pattern formationGO:00099539.7NOG, WNT7A
10cartilage developmentGO:00512169.7NOG, WNT7A
11positive regulation of canonical Wnt signaling pathwayGO:00902639.7FGFR2, WNT7A
12angiogenesisGO:00015259.6FGFR2, WNT7A
13somatic stem cell population maintenanceGO:00350199.5NOG, WNT7A
14wound healingGO:00420609.4NOG, WNT7A
15brain developmentGO:00074209.1NOG, STMN1
16positive regulation of transcription from RNA polymerase II promoterGO:00459448.8FGFR2, NOG, WNT7A
17axonogenesisGO:00074098.4FGFR2, STMN1, WNT7A

Sources for Humeroradial Synostosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet