MCID: HMR015
MIFTS: 31

Humeroradial Synostosis

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Humeroradial Synostosis

MalaCards integrated aliases for Humeroradial Synostosis:

Name: Humeroradial Synostosis 53 12 49 14
Humero-Radial Fusion 12
Ramer Ladda Syndrome 69

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
humeroradial synostosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 143050
Disease Ontology 12 DOID:0060467
ICD10 32 Q74.0
MedGen 39 C2930865
SNOMED-CT via HPO 65 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 cardiovascular system and hearing/vestibular/ear

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 30.5 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 9.9 FGFR2 NOG
9 persistent mullerian duct syndrome 9.8 FGFR2 WNT7A
10 chromosome 2q35 duplication syndrome 9.8 FGFR2 NOG
11 renpenning syndrome 1 9.7 FGFR2 STMN1
12 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

Symptoms via clinical synopsis from OMIM:

53
Limbs:
humeroradial synostosis


Clinical features from OMIM:

143050

Human phenotypes related to Humeroradial Synostosis:

31
# Description HPO Frequency HPO Source Accession
1 humeroradial synostosis 31 HP:0003041

MGI Mouse Phenotypes related to Humeroradial Synostosis:

43
# 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 NOG STMN1 WNT7A FGFR2
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:

38
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
FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis. ( 15041782 )
2003
4
Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure. ( 12476458 )
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 20)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.74 NOG STMN1 WNT7A
2 positive regulation of transcription by RNA polymerase II 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 embryonic digit morphogenesis GO:0042733 9.49 NOG WNT7A
11 cellular response to transforming growth factor beta stimulus GO:0071560 9.48 FGFR2 WNT7A
12 cell fate commitment GO:0045165 9.46 FGFR2 WNT7A
13 ureteric bud development GO:0001657 9.43 FGFR2 NOG
14 dorsal/ventral pattern formation GO:0009953 9.4 NOG WNT7A
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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