RUS
MCID: RDL040
MIFTS: 29

Radioulnar Synostosis, Nonsyndromic (RUS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Radioulnar Synostosis, Nonsyndromic

MalaCards integrated aliases for Radioulnar Synostosis, Nonsyndromic:

Name: Radioulnar Synostosis, Nonsyndromic 56
Radioulnar Synostosis, Nonsyndromic, Susceptibility to 56
Congenital Radioulnar Synostosis 58
Radioulnar Fusion 58
Rus 56

Characteristics:

Orphanet epidemiological data:

58
congenital radioulnar synostosis
Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
radioulnar synostosis, nonsyndromic:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 179300
ICD10 via Orphanet 33 Q74.0
UMLS via Orphanet 72 C0158761 C0431795
Orphanet 58 ORPHA3269
MedGen 41 C0158761
SNOMED-CT via HPO 68 263681008 33313004 9634000

Summaries for Radioulnar Synostosis, Nonsyndromic

OMIM : 56 There are 2 types of radioulnar synostosis: in type 1, there is a proximal, smooth fusion of 2 to 6 cm between the radius and ulna and the radial head is absent; in type 2, there is a fusion just distal to the proximal radial epiphysis in association with congenital dislocation of the radial head (Bauer and Jonsson, 1988). Both types result in a limitation of pronation and supination of the forearm, and in type 2 there is also a restriction of extension at the elbow. Dominant inheritance through several lines in several generations was demonstrated by a family reported by Davenport et al. (1924). Hansen and Andersen (1970) found a positive family history in 5 of 37 cases. Radioulnar synostosis is a feature of certain chromosome abnormalities, notably the triple X-Y syndrome (XXXY). See pronation-supination of the forearm, impairment of (176800). Radioulnar synostosis occurs in an autosomal dominant syndrome with amegakaryocytic thrombocytopenia; see RUSAT1, 605432. (179300)

MalaCards based summary : Radioulnar Synostosis, Nonsyndromic, also known as radioulnar synostosis, nonsyndromic, susceptibility to, is related to radioulnar synostosis and cytomegalovirus infection. An important gene associated with Radioulnar Synostosis, Nonsyndromic is SMAD6 (SMAD Family Member 6). Affiliated tissues include bone, and related phenotypes are radioulnar synostosis and dislocated radial head

Related Diseases for Radioulnar Synostosis, Nonsyndromic

Diseases in the Radioulnar Synostosis family:

Radioulnar Synostosis, Nonsyndromic

Diseases related to Radioulnar Synostosis, Nonsyndromic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 221)
# Related Disease Score Top Affiliating Genes
1 radioulnar synostosis 12.4
2 cytomegalovirus infection 11.3
3 synostosis 11.0
4 pulmonary hypertension, primary, 3 10.7
5 amenorrhea 10.5
6 ankylosis 10.4
7 compartment syndrome 10.4
8 rapidly involuting congenital hemangioma 10.4
9 hair whorl 10.4
10 dentinogenesis imperfecta type 2 10.4
11 helix syndrome 10.4
12 bronchitis 10.3
13 triiodothyronine receptor auxiliary protein 10.3
14 haemophilus influenzae 10.3
15 ovarian cancer 10.2
16 chlamydia 10.2
17 cleft palate, isolated 10.2
18 humeroradial synostosis 10.2
19 myositis 10.2
20 osteoporosis 10.2
21 pierre robin syndrome 10.2
22 mandibulofacial dysostosis, guion-almeida type 10.2
23 bone mineral density quantitative trait locus 8 10.2
24 bone mineral density quantitative trait locus 15 10.2
25 esophageal atresia 10.2
26 azoospermia 10.2
27 testicular disease 10.2
28 myositis ossificans 10.2
29 isolated pierre robin sequence 10.2
30 microtia 10.2
31 hepatocellular carcinoma 10.1
32 meningioma, radiation-induced 10.1
33 conn's syndrome 10.1
34 endometriosis 10.1
35 48,xyyy 10.1
36 overgrowth syndrome 10.1
37 meningioma, familial 10.1
38 pachyonychia congenita 3 10.1
39 spinal meningioma 10.1
40 melanoma 10.1
41 colon adenocarcinoma 10.1
42 secretory meningioma 10.1
43 lymphoplasmacyte-rich meningioma 10.1
44 neurofibromatosis, type ii 10.0
45 alzheimer disease 10.0
46 pulmonary hypertension, primary, 2 10.0
47 portal hypertension, noncirrhotic 10.0
48 pain agnosia 10.0
49 ectopic pregnancy 10.0
50 allergic hypersensitivity disease 10.0

Graphical network of the top 20 diseases related to Radioulnar Synostosis, Nonsyndromic:



Diseases related to Radioulnar Synostosis, Nonsyndromic

Symptoms & Phenotypes for Radioulnar Synostosis, Nonsyndromic

Human phenotypes related to Radioulnar Synostosis, Nonsyndromic:

31
# Description HPO Frequency HPO Source Accession
1 radioulnar synostosis 31 HP:0002974
2 dislocated radial head 31 HP:0003083
3 limited elbow extension 31 HP:0001377

Symptoms via clinical synopsis from OMIM:

56
Limbs:
radioulnar synostosis

Radiology:
proximal, smooth radioulnar fusion with absent radial head
(type 1)
radioulnar fusion distal to the proximal radial epiphysis with congenital radial head dislocation (type 2)

Joints:
limited forearm pronation and supination
limited elbow extension in type 2

Clinical features from OMIM:

179300

Drugs & Therapeutics for Radioulnar Synostosis, Nonsyndromic

Search Clinical Trials , NIH Clinical Center for Radioulnar Synostosis, Nonsyndromic

Genetic Tests for Radioulnar Synostosis, Nonsyndromic

Anatomical Context for Radioulnar Synostosis, Nonsyndromic

MalaCards organs/tissues related to Radioulnar Synostosis, Nonsyndromic:

40
Bone

Publications for Radioulnar Synostosis, Nonsyndromic

Articles related to Radioulnar Synostosis, Nonsyndromic:

(show all 17)
# Title Authors PMID Year
1
SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis. 56
31138930 2019
2
Autosomal dominant and sporadic radio-ulnar synostosis. 56
9028445 1997
3
46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis. 56
7604847 1995
4
Phenotype of 49,XXYYY. 56
8330452 1993
5
Y aneuploidy: a further case of a male patient with a 48,XYYY karyotype and literature review. 56
1296523 1992
6
Congenital radioulnar synostosis. Radiological characteristics and hand function: case reports. 56
3252456 1988
7
Congenital radio-ulnar synostosis. Report of 37 cases. 56
5486179 1970
8
A PATIENT WITH 48 CHROMOSOMES (XYYY). 56
14283740 1965
9
THE XXXXY SYNDROME. 56
14069014 1963
10
Bilateral congenital radioulnar synostosis in an Early Horizon subadult burial from the site of Atalla, Peru. 61
31837490 2020
11
[Kapandji-Sauvé procedure with distal radioulnar fusion and segmental resection of the ulna]. 61
20924551 2012
12
The developmental spectrum of proximal radioulnar synostosis. 61
19669136 2010
13
Forearm rebalancing in osteochondromatosis by radioulnar fusion. 61
18090828 2007
14
Salvage of the unstable Sauvé-Kapandji procedure: a new technique. 61
17536530 2007
15
Treatment of failed Sauvé-Kapandji procedures with a spherical ulnar head prosthesis. 61
16601411 2006
16
The distal radioulnar joint complex in rheumatoid arthritis: an overview. 61
1880170 1991
17
Congenital pseudarthrosis of the ulna: a case report. 61
288410 1979

Variations for Radioulnar Synostosis, Nonsyndromic

ClinVar genetic disease variations for Radioulnar Synostosis, Nonsyndromic:

6 (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMAD6 NM_005585.5(SMAD6):c.106dup (p.Asp36fs)duplication Pathogenic 690422 15:66995700-66995701 15:66703362-66703363
2 SMAD6 NM_005585.5(SMAD6):c.223C>T (p.Arg75Ter)SNV Pathogenic 690410 15:66995819-66995819 15:66703481-66703481
3 SMAD6 NM_005585.5(SMAD6):c.345G>A (p.Trp115Ter)SNV Pathogenic 690419 15:66995941-66995941 15:66703603-66703603
4 SMAD6 NM_005585.5(SMAD6):c.389C>A (p.Ser130Ter)SNV Pathogenic 690415 15:66995985-66995985 15:66703647-66703647
5 SMAD6 NM_005585.5(SMAD6):c.589del (p.Ser197fs)deletion Pathogenic 690424 15:66996185-66996185 15:66703847-66703847
6 SMAD6 NM_005585.5(SMAD6):c.943G>T (p.Glu315Ter)SNV Pathogenic 690420 15:67008827-67008827 15:66716489-66716489
7 SMAD6 NM_005585.5(SMAD6):c.461G>A (p.Gly154Asp)SNV Likely pathogenic 690425 15:66996057-66996057 15:66703719-66703719
8 SMAD6 NM_005585.5(SMAD6):c.613T>A (p.Cys205Ser)SNV risk factor 690412 15:66996209-66996209 15:66703871-66703871
9 SMAD6 NM_005585.5(SMAD6):c.263_264delinsT (p.Gly88fs)indel Likely pathogenic 690416 15:66995859-66995860 15:66703521-66703522
10 SMAD6 NM_005585.5(SMAD6):c.1050C>G (p.Tyr350Ter)SNV risk factor 690426 15:67073432-67073432 15:66781094-66781094
11 SMAD6 NM_005585.5(SMAD6):c.1304_1313dup (p.Phe439fs)duplication risk factor 690427 15:67073684-67073685 15:66781346-66781347
12 SMAD6 NM_005585.5(SMAD6):c.1412G>A (p.Gly471Asp)SNV risk factor 690428 15:67073794-67073794 15:66781456-66781456
13 SMAD6 NM_005585.5(SMAD6):c.1339C>T (p.Gln447Ter)SNV Uncertain significance 690414 15:67073721-67073721 15:66781383-66781383
14 SMAD6 NM_005585.5(SMAD6):c.1109A>G (p.Gln370Arg)SNV Uncertain significance 690408 15:67073491-67073491 15:66781153-66781153
15 SMAD6 NM_005585.5(SMAD6):c.458_464CGGGCGG[3] (p.Ser158fs)short repeat Uncertain significance 405520 rs958818801 15:66996050-66996051 15:66703712-66703713
16 SMAD6 NM_005585.5(SMAD6):c.458_464CGGGCGG[1] (p.Gly156fs)short repeat Uncertain significance 638816 15:66996051-66996057 15:66703713-66703719
17 SMAD6 NM_005585.5(SMAD6):c.442del (p.Ala148fs)deletion Uncertain significance 690423 15:66996035-66996035 15:66703697-66703697
18 SMAD6 NM_005585.5(SMAD6):c.452_458del (p.Glu151fs)deletion Uncertain significance 690417 15:66996048-66996054 15:66703710-66703716
19 SMAD6 NM_005585.5(SMAD6):c.649G>C (p.Gly217Arg)SNV Uncertain significance 690407 15:66996245-66996245 15:66703907-66703907
20 SMAD6 NM_005585.5(SMAD6):c.800G>A (p.Ser267Asn)SNV Uncertain significance 690411 15:66996396-66996396 15:66704058-66704058
21 SMAD6 NM_005585.5(SMAD6):c.837C>G (p.Tyr279Ter)SNV Uncertain significance 690421 15:67004025-67004025 15:66711687-66711687
22 SMAD6 NM_005585.5(SMAD6):c.900C>A (p.Tyr300Ter)SNV Uncertain significance 690409 15:67008784-67008784 15:66716446-66716446
23 SMAD6 NM_005585.5(SMAD6):c.560C>T (p.Ser187Leu)SNV Uncertain significance 690418 15:66996156-66996156 15:66703818-66703818
24 SMAD6 NM_005585.5(SMAD6):c.1016A>C (p.His339Pro)SNV Uncertain significance 690413 15:67073398-67073398 15:66781060-66781060

Expression for Radioulnar Synostosis, Nonsyndromic

Search GEO for disease gene expression data for Radioulnar Synostosis, Nonsyndromic.

Pathways for Radioulnar Synostosis, Nonsyndromic

GO Terms for Radioulnar Synostosis, Nonsyndromic

Sources for Radioulnar Synostosis, Nonsyndromic

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72 UMLS via Orphanet
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