MCID: HMR015
MIFTS: 31

Humeroradial Synostosis

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Humeroradial Synostosis

MalaCards integrated aliases for Humeroradial Synostosis:

Name: Humeroradial Synostosis 58 12 54 15
Humero-Radial Fusion 12
Ramer Ladda Syndrome 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
humeroradial synostosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060467
OMIM 58 143050
ICD10 34 Q74.0
MedGen 43 C2930865
SNOMED-CT via HPO 70 205329008 263681008

Summaries for Humeroradial Synostosis

MalaCards based summary : Humeroradial Synostosis, also known as humero-radial fusion, is related to synostosis and humeroradial synostosis with craniofacial anomalies. 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 humeroradial synostosis and cardiovascular system

Description from OMIM: 143050

Related Diseases for Humeroradial Synostosis

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 synostosis 30.8 NOG FGFR2
2 humeroradial synostosis with craniofacial anomalies 12.3
3 ramer ladda syndrome 11.5
4 apert syndrome 10.2
5 cocaine antenatal exposure 10.2
6 antley-bixler syndrome 10.0 POR FGFR2
7 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.0 POR FGFR2
8 renpenning syndrome 1 9.9 STMN1 FGFR2
9 chromosome 2q35 duplication syndrome 9.7 NOG FGFR2
10 ankylosis 9.7 NOG FGFR2
11 craniosynostosis 9.6 FGFR2 NOG

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:

33
# Description HPO Frequency HPO Source Accession
1 humeroradial synostosis 33 HP:0003041

Symptoms via clinical synopsis from OMIM:

58
Limbs:
humeroradial synostosis

Clinical features from OMIM:

143050

MGI Mouse Phenotypes related to Humeroradial Synostosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 FGFR2 NOG POR STMN1 WNT7A
2 embryo MP:0005380 9.67 FGFR2 NOG POR WNT7A
3 limbs/digits/tail MP:0005371 9.62 FGFR2 NOG POR WNT7A
4 muscle MP:0005369 9.56 FGFR2 NOG POR STMN1
5 nervous system MP:0003631 9.55 FGFR2 NOG POR STMN1 WNT7A
6 normal MP:0002873 9.26 FGFR2 NOG STMN1 WNT7A
7 vision/eye MP:0005391 8.92 FGFR2 NOG POR 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:

42
Bone

Publications for Humeroradial Synostosis

Articles related to Humeroradial Synostosis:

# Title Authors Year
1
Congenital humeroradial synostosis: a case report. ( 25279074 )
2012
2
Congenital humeroradial synostosis. ( 20535461 )
2010
3
Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure. ( 12476458 )
2003
4
FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis. ( 15041782 )
2003
5
Humeroradial synostosis and the multiple synostosis syndrome: case report. ( 12703033 )
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:

# 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 16)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.56 POR WNT7A
2 positive regulation of canonical Wnt signaling pathway GO:0090263 9.55 FGFR2 JRK
3 cartilage development GO:0051216 9.54 NOG WNT7A
4 cell fate commitment GO:0045165 9.52 FGFR2 WNT7A
5 positive regulation of epithelial cell proliferation GO:0050679 9.51 FGFR2 NOG
6 cellular response to transforming growth factor beta stimulus GO:0071560 9.49 FGFR2 WNT7A
7 embryonic digit morphogenesis GO:0042733 9.48 NOG WNT7A
8 somatic stem cell population maintenance GO:0035019 9.46 NOG WNT7A
9 ureteric bud development GO:0001657 9.43 FGFR2 NOG
10 dorsal/ventral pattern formation GO:0009953 9.4 NOG WNT7A
11 limb development GO:0060173 9.37 NOG WNT7A
12 epithelial to mesenchymal transition GO:0001837 9.32 FGFR2 NOG
13 membranous septum morphogenesis GO:0003149 9.26 FGFR2 NOG
14 mesenchymal cell differentiation GO:0048762 9.16 FGFR2 NOG
15 wound healing GO:0042060 9.13 FGFR2 NOG WNT7A
16 axonogenesis GO:0007409 8.8 FGFR2 STMN1 WNT7A

Sources for Humeroradial Synostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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