MCID: HMR015
MIFTS: 27

Humeroradial Synostosis

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Humeroradial Synostosis

MalaCards integrated aliases for Humeroradial Synostosis:

Name: Humeroradial Synostosis 57 12 53 15
Ramer Ladda Syndrome 44 72
Humero-Radial Fusion 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
humeroradial synostosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060467
OMIM 57 143050
MeSH 44 C535284
ICD10 33 Q74.0
MedGen 42 C2930865
UMLS 72 C0431800 C2930865

Summaries for Humeroradial Synostosis

MalaCards based summary : Humeroradial Synostosis, also known as ramer ladda syndrome, is related to synostosis and ankylosis. An important gene associated with Humeroradial Synostosis is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways is Human Embryonic Stem Cell Pluripotency. Affiliated tissues include bone, and related phenotypes are humeroradial synostosis and cardiovascular system

More information from OMIM: 143050

Related Diseases for Humeroradial Synostosis

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

Symptoms via clinical synopsis from OMIM:

57
Limbs:
humeroradial synostosis

Clinical features from OMIM:

143050

MGI Mouse Phenotypes related to Humeroradial Synostosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 FGFR2 NOG POR STMN1 WNT7A
2 limbs/digits/tail MP:0005371 9.26 FGFR2 NOG POR WNT7A
3 muscle MP:0005369 8.92 FGFR2 NOG POR STMN1

Drugs & Therapeutics for Humeroradial Synostosis

Search Clinical Trials , NIH Clinical Center for Humeroradial Synostosis

Cochrane evidence based reviews: ramer ladda syndrome

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:

(show all 25)
# Title Authors PMID Year
1
Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure. 38 8
12476458 2003
2
[Distal symphalangia with humeroradial synostosis, carpal synostosis and brachyphalangia of the thumb. A dominant syndrome (author's transl)]. 38 8
1274395 1976
3
The genetics of and associated clinical findings in humero-radial synostosis. 8
1269169 1976
4
[Dominant hereditary bilateral dysplasia and synostosis of the elbow joint, with symmetrical brachymesophalangy and brachymetacarpy as well as synostoses in the finger, carpal and tarsal region]. 8
5986056 1966
5
Ulnar hemimelia: a report of four cases. 38
30712123 2019
6
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature. 38
30924273 2019
7
A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus. 38
27638328 2016
8
Anesthetic risks associated with Antley-Bixler syndrome. 38
23348324 2013
9
Congenital humeroradial synostosis: a case report. 38
25279074 2012
10
Antley-Bixler-syndrome--staged management of craniofacial malformations from birth to adolescence--a case report. 38
21146417 2011
11
Congenital humeroradial synostosis. 38
20535461 2010
12
FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis. 38
15041782 2003
13
Humeroradial synostosis and the multiple synostosis syndrome: case report. 38
12703033 2003
14
Juberg-Hayward syndrome: a new case report and clinical delineation of the syndrome. 38
10319201 1999
15
Congenital radioulnar synostosis. Study of a series of 37 children and adolescents. 38
10855298 1998
16
[Congenital humeroradial synostosis]. 38
8849113 1996
17
Genetic nosology and counseling of humeroradial synostosis. 38
7811427 1994
18
Antley-Bixler syndrome: description of two patients. 38
1896874 1991
19
[A complex symphalangia syndrome with brachydactyly, humeroradial synostosis and other multiple joint dysplasias]. 38
3393818 1988
20
Ulnar ray deficiency: its various manifestations. 38
6491207 1984
21
Humeroradial synostosis. 38
6841611 1983
22
Congenital symmetrical humeroradial synostosis. 38
4522661 1974
23
Humeroradial synostosis. A case report. 38
4763940 1973
24
[A probable autosomal recessive hereditary skeletal malformations with humeroradial synostosis]. 38
5488995 1970
25
Congenital humeroradial synostosis with other synostotic anomalies. 38
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 WNT7A NOG FGFR2

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

Sources for Humeroradial Synostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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