MCID: HMR015
MIFTS: 26

Humeroradial Synostosis malady

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Humeroradial Synostosis

Aliases & Descriptions for Humeroradial Synostosis:

Name: Humeroradial Synostosis 12 50 14
Humero-Radial Fusion 12
Ramer Ladda Syndrome 69

Characteristics:

HPO:

32
humeroradial synostosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060467
ICD10 33 Q74.0
UMLS 69 C0431800

Summaries for Humeroradial Synostosis

MalaCards based summary : Humeroradial Synostosis, also known as humero-radial fusion, is related to ramer ladda syndrome and humero-radial synostosis, unilateral. An important gene associated with Humeroradial Synostosis is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include bone, and related phenotypes are cardiovascular system and hearing/vestibular/ear

Related Diseases for Humeroradial Synostosis

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

(show all 13)
id Related Disease Score Top Affiliating Genes
1 ramer ladda syndrome 11.2
2 humero-radial synostosis, unilateral 11.2
3 humero-radial synostosis, bilateral 11.2
4 synostosis 10.5
5 aica-ribosiduria due to atic deficiency 10.0 FGFR2 NOG
6 apert syndrome 10.0
7 cutaneous leishmaniasis 10.0 FGFR2 NOG
8 cone dystrophy 9.9 FGFR2 WNT7A
9 pharyngitis 9.9 FGFR2 NOG
10 retinitis pigmentosa 2 9.8 FGFR2 STMN1
11 bone structure disease 9.8 FGFR2 NOG
12 atrophy of testis 9.8 FGFR2 NOG WNT7A
13 left ventricular noncompaction 9.5 FGFR2 NOG STMN1 WNT7A

Graphical network of the top 20 diseases related to Humeroradial Synostosis:



Diseases related to Humeroradial Synostosis

Symptoms & Phenotypes for Humeroradial Synostosis

Human phenotypes related to Humeroradial Synostosis:

32
id Description HPO Frequency HPO Source Accession
1 humeroradial synostosis 32 HP:0003041

MGI Mouse Phenotypes related to Humeroradial Synostosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.62 FGFR2 NOG STMN1 WNT7A
2 hearing/vestibular/ear MP:0005377 9.43 FGFR2 NOG WNT7A
3 limbs/digits/tail MP:0005371 9.33 FGFR2 NOG WNT7A
4 nervous system MP:0003631 9.26 FGFR2 NOG STMN1 WNT7A
5 normal MP:0002873 8.92 FGFR2 NOG STMN1 WNT7A

Drugs & Therapeutics for Humeroradial Synostosis

Search Clinical Trials , NIH Clinical Center for Humeroradial Synostosis

Genetic Tests for Humeroradial Synostosis

Anatomical Context for Humeroradial Synostosis

MalaCards organs/tissues related to Humeroradial Synostosis:

39
Bone

Publications for Humeroradial Synostosis

Articles related to Humeroradial Synostosis:

id Title Authors Year
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

Expression for Humeroradial Synostosis

Search GEO for disease gene expression data for Humeroradial Synostosis.

Pathways for Humeroradial Synostosis

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.24 FGFR2 NOG WNT7A
2 11.1 FGFR2 WNT7A

GO Terms for Humeroradial Synostosis

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.74 NOG STMN1 WNT7A
2 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.73 FGFR2 NOG WNT7A
3 brain development GO:0007420 9.59 NOG STMN1
4 angiogenesis GO:0001525 9.58 FGFR2 WNT7A
5 in utero embryonic development GO:0001701 9.58 FGFR2 NOG
6 positive regulation of canonical Wnt signaling pathway GO:0090263 9.55 FGFR2 WNT7A
7 cartilage development GO:0051216 9.54 NOG WNT7A
8 somatic stem cell population maintenance GO:0035019 9.52 NOG WNT7A
9 positive regulation of epithelial cell proliferation GO:0050679 9.51 FGFR2 NOG
10 cellular response to transforming growth factor beta stimulus GO:0071560 9.49 FGFR2 WNT7A
11 embryonic digit morphogenesis GO:0042733 9.48 NOG WNT7A
12 cell fate commitment GO:0045165 9.46 FGFR2 WNT7A
13 dorsal/ventral pattern formation GO:0009953 9.43 NOG WNT7A
14 ureteric bud development GO:0001657 9.4 FGFR2 NOG
15 epithelial to mesenchymal transition GO:0001837 9.37 FGFR2 NOG
16 limb development GO:0060173 9.32 NOG WNT7A
17 mesenchymal cell differentiation GO:0048762 9.26 FGFR2 NOG
18 membranous septum morphogenesis GO:0003149 9.16 FGFR2 NOG
19 axonogenesis GO:0007409 9.13 FGFR2 STMN1 WNT7A
20 wound healing GO:0042060 8.8 FGFR2 NOG WNT7A

Sources for Humeroradial Synostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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