MCID: HMR015
MIFTS: 35

Humeroradial Synostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Humeroradial Synostosis

MalaCards integrated aliases for Humeroradial Synostosis:

Name: Humeroradial Synostosis 56 12 52 15
Humero-Radial Fusion 12 52 58
Humero-Radial Synostosis 52 58
Ramer Ladda Syndrome 43 71

Characteristics:

Orphanet epidemiological data:

58
humero-radial synostosis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
humeroradial synostosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060467
OMIM 56 143050
MeSH 43 C535284
ICD10 32 Q74.0
ICD10 via Orphanet 33 Q74.0
UMLS via Orphanet 72 C0431800
Orphanet 58 ORPHA3265
MedGen 41 C2930865
UMLS 71 C0431800 C2930865

Summaries for Humeroradial Synostosis

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3265 Definition Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present. Visit the Orphanet disease page for more resources.

MalaCards based summary : Humeroradial Synostosis, also known as humero-radial fusion, is related to synostosis and chromosome 2q35 duplication syndrome. An important gene associated with Humeroradial Synostosis is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and cholesterol biosynthesis III (via desmosterol). Affiliated tissues include bone and eye, and related phenotypes are elbow ankylosis and elbow dislocation

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:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elbow ankylosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003070
2 elbow dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0003042
3 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
4 chorioretinal coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000567
5 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
6 meningocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002435
7 aplasia/hypoplasia affecting the eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0008056
8 tarsal synostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008368
9 aplasia/hypoplasia of the thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009601
10 abnormality of the wrist 58 31 occasional (7.5%) Occasional (29-5%) HP:0003019
11 limitation of joint mobility 58 Very frequent (99-80%)
12 humeroradial synostosis 31 HP:0003041

Symptoms via clinical synopsis from OMIM:

56
Limbs:
humeroradial synostosis

Clinical features from OMIM:

143050

MGI Mouse Phenotypes related to Humeroradial Synostosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.55 DHCR7 FGFR2 POR SQLE THRA
2 limbs/digits/tail MP:0005371 9.26 DHCR7 FGFR2 POR THRA
3 liver/biliary system MP:0005370 9.02 CYB5A DHCR7 FGFR2 POR THRA

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:

40
Bone, Eye

Publications for Humeroradial Synostosis

Articles related to Humeroradial Synostosis:

(show all 26)
# Title Authors PMID Year
1
Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure. 61 56
12476458 2003
2
[Distal symphalangia with humeroradial synostosis, carpal synostosis and brachyphalangia of the thumb. A dominant syndrome (author's transl)]. 56 61
1274395 1976
3
The genetics of and associated clinical findings in humero-radial synostosis. 56
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]. 56
5986056 1966
5
Modified French Osteotomy for Humeroradial Synostosis in a Child with Multiple Synostoses Syndrome: A Case Report. 61
31467654 2019
6
Ulnar hemimelia: a report of four cases. 61
30712123 2019
7
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature. 61
30924273 2019
8
A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus. 61
27638328 2016
9
Anesthetic risks associated with Antley-Bixler syndrome. 61
23348324 2013
10
Congenital humeroradial synostosis: a case report. 61
25279074 2012
11
Antley-Bixler-syndrome--staged management of craniofacial malformations from birth to adolescence--a case report. 61
21146417 2011
12
Congenital humeroradial synostosis. 61
20535461 2010
13
FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis. 61
15041782 2003
14
Humeroradial synostosis and the multiple synostosis syndrome: case report. 61
12703033 2003
15
Juberg-Hayward syndrome: a new case report and clinical delineation of the syndrome. 61
10319201 1999
16
Congenital radioulnar synostosis. Study of a series of 37 children and adolescents. 61
10855298 1998
17
[Congenital humeroradial synostosis]. 61
8849113 1996
18
Genetic nosology and counseling of humeroradial synostosis. 61
7811427 1994
19
Antley-Bixler syndrome: description of two patients. 61
1896874 1991
20
[A complex symphalangia syndrome with brachydactyly, humeroradial synostosis and other multiple joint dysplasias]. 61
3393818 1988
21
Ulnar ray deficiency: its various manifestations. 61
6491207 1984
22
Humeroradial synostosis. 61
6841611 1983
23
Congenital symmetrical humeroradial synostosis. 61
4522661 1974
24
Humeroradial synostosis. A case report. 61
4763940 1973
25
[A probable autosomal recessive hereditary skeletal malformations with humeroradial synostosis]. 61
5488995 1970
26
Congenital humeroradial synostosis with other synostotic anomalies. 61
20268817 1947

Variations for Humeroradial Synostosis

Expression for Humeroradial Synostosis

Search GEO for disease gene expression data for Humeroradial Synostosis.

Pathways for Humeroradial Synostosis

GO Terms for Humeroradial Synostosis

Cellular components related to Humeroradial Synostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.26 SQLE POR DHCR7 CYB5A
2 organelle membrane GO:0031090 9.16 SQLE CYB5A
3 intracellular membrane-bounded organelle GO:0043231 9.02 SQLE POR FGFR2 DHCR7 CYB5A

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

# Name GO ID Score Top Affiliating Genes
1 cholesterol metabolic process GO:0008203 9.43 SQLE DHCR7
2 lung development GO:0030324 9.4 FGFR2 DHCR7
3 electron transport chain GO:0022900 9.37 POR CYB5A
4 post-embryonic development GO:0009791 9.32 FGFR2 DHCR7
5 cholesterol biosynthetic process GO:0006695 9.26 SQLE DHCR7
6 oxidation-reduction process GO:0055114 9.26 SQLE POR DHCR7 CYB5A
7 regulation of cholesterol biosynthetic process GO:0045540 9.16 SQLE DHCR7
8 sterol biosynthetic process GO:0016126 8.62 SQLE DHCR7

Molecular functions related to Humeroradial Synostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 flavin adenine dinucleotide binding GO:0050660 8.96 SQLE POR
2 NADP binding GO:0050661 8.62 POR DHCR7

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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