MCID: HMR015
MIFTS: 26

Humeroradial Synostosis malady

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Humeroradial Synostosis

About this section

Aliases & Descriptions for Humeroradial Synostosis:

Name: Humeroradial Synostosis 11 48 13
Humero-Radial Fusion 11
 
Ramer Ladda Syndrome 68

Characteristics:


Classifications:



External Ids:

Disease Ontology11 DOID:0060467
ICD1030 Q74.0

Summaries for Humeroradial Synostosis

About this section
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

About this section

Graphical network of diseases related to Humeroradial Synostosis:



Diseases related to humeroradial synostosis

Symptoms & Phenotypes for Humeroradial Synostosis

About this section

Human phenotypes related to Humeroradial Synostosis:

 64
id Description HPO Frequency HPO Source Accession
1 humeroradial synostosis64 HP:0003041

MGI Mouse Phenotypes related to Humeroradial Synostosis according to GeneCards Suite gene sharing:

41
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

Drugs & Therapeutics for Humeroradial Synostosis

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Humeroradial Synostosis

Genetic Tests for Humeroradial Synostosis

About this section

Anatomical Context for Humeroradial Synostosis

About this section

MalaCards organs/tissues related to Humeroradial Synostosis:

36
Bone

Publications for Humeroradial Synostosis

About this section

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

About this section

Expression for genes affiliated with Humeroradial Synostosis

About this section
Search GEO for disease gene expression data for Humeroradial Synostosis.

Pathways for genes affiliated with Humeroradial Synostosis

About this section

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

About this section

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1epithelial to mesenchymal transitionGO:000183710.2FGFR2, NOG
2in utero embryonic developmentGO:000170110.2FGFR2, NOG
3membranous septum morphogenesisGO:000314910.2FGFR2, NOG
4mesenchymal cell differentiationGO:004876210.2FGFR2, NOG
5positive regulation of epithelial cell proliferationGO:005067910.1FGFR2, NOG
6angiogenesisGO:000152510.1FGFR2, WNT7A
7cell fate commitmentGO:004516510.1FGFR2, WNT7A
8cartilage developmentGO:005121610.1NOG, WNT7A
9cellular response to transforming growth factor beta stimulusGO:007156010.1FGFR2, WNT7A
10dorsal/ventral pattern formationGO:000995310.1NOG, WNT7A
11embryonic digit morphogenesisGO:004273310.1NOG, WNT7A
12limb developmentGO:006017310.1NOG, WNT7A
13positive regulation of canonical Wnt signaling pathwayGO:009026310.0FGFR2, WNT7A
14ureteric bud developmentGO:000165710.0FGFR2, NOG
15brain developmentGO:00074209.9NOG, STMN1
16somatic stem cell population maintenanceGO:00350199.9NOG, WNT7A
17positive regulation of transcription from RNA polymerase II promoterGO:00459449.4FGFR2, NOG, WNT7A
18axonogenesisGO:00074099.3FGFR2, STMN1, WNT7A
19multicellular organism developmentGO:00072759.2NOG, STMN1, WNT7A
20wound healingGO:00420608.8FGFR2, NOG, WNT7A

Sources for Humeroradial Synostosis

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet