MCID: HMR015
MIFTS: 30

Humeroradial Synostosis

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Humeroradial Synostosis

MalaCards integrated aliases for Humeroradial Synostosis:

Name: Humeroradial Synostosis 57 12 53 15
Humero-Radial Fusion 12
Ramer Ladda Syndrome 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
humeroradial synostosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 143050
Disease Ontology 12 DOID:0060467
ICD10 33 Q74.0
MedGen 42 C2930865
SNOMED-CT via HPO 69 263681008 205329008

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 12)
# Related Disease Score Top Affiliating Genes
1 synostosis 30.2 FGFR2 NOG
2 humeroradial synostosis with craniofacial anomalies 12.1
3 ramer ladda syndrome 11.3
4 humero-radial synostosis, unilateral 11.3
5 humero-radial synostosis, bilateral 11.3
6 apert syndrome 10.1
7 cocaine antenatal exposure 10.1
8 ankylosis 9.8 FGFR2 NOG
9 persistent mullerian duct syndrome 9.7 FGFR2 WNT7A
10 chromosome 2q35 duplication syndrome 9.7 FGFR2 NOG
11 renpenning syndrome 1 9.5 FGFR2 STMN1
12 craniosynostosis 9.3 FGFR2 NOG

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



Diseases related to Humeroradial Synostosis

Symptoms & Phenotypes for Humeroradial Synostosis

Symptoms via clinical synopsis from OMIM:

57
Limbs:
humeroradial synostosis


Clinical features from OMIM:

143050

Human phenotypes related to Humeroradial Synostosis:

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

MGI Mouse Phenotypes related to Humeroradial Synostosis:

46
# 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:

41
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 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.76 FGFR2 NOG WNT7A
2 cell differentiation GO:0030154 9.75 FGFR2 NOG STMN1
3 multicellular organism development GO:0007275 9.62 FGFR2 NOG STMN1 WNT7A
4 brain development GO:0007420 9.61 NOG STMN1
5 angiogenesis GO:0001525 9.6 FGFR2 WNT7A
6 in utero embryonic development GO:0001701 9.59 FGFR2 NOG
7 positive regulation of canonical Wnt signaling pathway GO:0090263 9.57 FGFR2 WNT7A
8 central nervous system development GO:0007417 9.56 FGFR2 NOG
9 cartilage development GO:0051216 9.55 NOG WNT7A
10 cell fate commitment GO:0045165 9.54 FGFR2 WNT7A
11 somatic stem cell population maintenance GO:0035019 9.52 NOG WNT7A
12 positive regulation of epithelial cell proliferation GO:0050679 9.51 FGFR2 NOG
13 embryonic digit morphogenesis GO:0042733 9.49 NOG WNT7A
14 cellular response to transforming growth factor beta stimulus GO:0071560 9.48 FGFR2 WNT7A
15 dorsal/ventral pattern formation GO:0009953 9.46 NOG WNT7A
16 ureteric bud development GO:0001657 9.43 FGFR2 NOG
17 limb development GO:0060173 9.4 NOG WNT7A
18 epithelial to mesenchymal transition GO:0001837 9.37 FGFR2 NOG
19 membranous septum morphogenesis GO:0003149 9.26 FGFR2 NOG
20 mesenchymal cell differentiation GO:0048762 9.16 FGFR2 NOG
21 axonogenesis GO:0007409 9.13 FGFR2 STMN1 WNT7A
22 wound healing GO:0042060 8.8 FGFR2 NOG WNT7A

Sources for Humeroradial Synostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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