MCID: SHN001
MIFTS: 15

Shone Complex

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Shone Complex

MalaCards integrated aliases for Shone Complex:

Name: Shone Complex 58 6 71

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q23.8
UMLS via Orphanet 72 C1868705
Orphanet 58 ORPHA99063
UMLS 71 C1868705

Summaries for Shone Complex

MalaCards based summary : Shone Complex is related to subvalvular aortic stenosis and coarctation of aorta. An important gene associated with Shone Complex is NOTCH1 (Notch Receptor 1). Affiliated tissues include heart.

Related Diseases for Shone Complex

Diseases related to Shone Complex via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 subvalvular aortic stenosis 10.3
2 coarctation of aorta 10.2
3 heart disease 10.2
4 mitral valve stenosis 10.2
5 aortic valve disease 1 10.1
6 supravalvular aortic stenosis 10.1
7 pulmonary hypertension 10.1
8 mitral valve insufficiency 10.1
9 heart valve disease 10.1
10 aortic valve insufficiency 10.1
11 congestive heart failure 10.1
12 hypoplastic left heart syndrome 10.1
13 congenital mitral stenosis 10.1

Graphical network of the top 20 diseases related to Shone Complex:



Diseases related to Shone Complex

Symptoms & Phenotypes for Shone Complex

Drugs & Therapeutics for Shone Complex

Search Clinical Trials , NIH Clinical Center for Shone Complex

Genetic Tests for Shone Complex

Anatomical Context for Shone Complex

MalaCards organs/tissues related to Shone Complex:

40
Heart

Publications for Shone Complex

Articles related to Shone Complex:

(show all 28)
# Title Authors PMID Year
1
Heart failure with reduced and preserved ejection fraction in adult congenital heart disease. 61
31873841 2019
2
Role of perioperative echocardiography in repair of incomplete shone complex: A case series. 61
31621686 2019
3
Incomplete Form of Shone Complex in an Adult Congenital Heart Disease Patient. 61
31089447 2019
4
Computed tomography imaging characteristics of shone syndrome. 61
30416637 2019
5
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 61
28991257 2017
6
Congenital heart defects in molecularly proven Kabuki syndrome patients. 61
28884922 2017
7
Shone Complex: An Under-recognized Congenital Heart Disease With Substantial Morbidity in Adulthood. 61
27956040 2017
8
Evolving Understanding of Shone Complex Through the Lifespan: What's in an Eponym? 61
28011108 2017
9
Role of intraoperative transesophageal echocardiography in pediatric cardiac surgery. 61
27053898 2016
10
Right Ventricular Enlargement In Utero: Is It Coarctation? 61
25851170 2015
11
Shone variant with large eustachian valve: implication for repair and heart transplantation. 61
25455258 2015
12
Shone complex. 61
25883760 2015
13
Multilevel obstruction of left ventricular outflow tract in Shone complex adult. 61
24887923 2015
14
Double orifice mitral valve and bicuspid aortic valve: pieces of the same single puzzle? 61
25949830 2015
15
Right ventricular failure from severe pulmonary hypertension after surgery for shone complex: back to fetal physiology with reducting, atrioseptectomy, and bilateral pulmonary arterial banding. 61
25173115 2014
16
Ascending-to-descending aortic bypass: a simple solution to a complex problem. 61
24725830 2014
17
Multimodality imaging of an adult with Shone complex. 61
23347816 2013
18
Surgical outcome of partial Shone complex. 61
22279117 2012
19
Don't stop at two. 61
20039135 2010
20
Ross-Konno operation for patients with Shone complex. 61
20401305 2010
21
Anomalies of left coronary artery origin affecting surgical repair of hypoplastic left heart syndrome and Shone complex. 61
18445061 2008
22
Surgical strategies and outcomes in patients with Shone complex: a retrospective review. 61
17888998 2007
23
Systemic sarcoidosis after cardiac transplantation in a 9-year-old child. 61
17045940 2006
24
Reconstruction of the mitral and aortic annuli for advanced management of the Shone complex. 61
10399672 1999
25
Aortoventriculoplasty with the pulmonary autograft: the "Ross-Konno" procedure. 61
8551761 1996
26
Reduction of the left-ventricular outflow-tract obstruction by aortoventriculoplasty--long-term results of 96 patients. 61
8211925 1993
27
Aortoventriculoplasty for different types of left ventricular outflow tract obstructions. 61
6460774 1982
28
Surgical treatment of various types of left ventricular outflow tract stenosis by aortoventriculoplasty--clinical results. 61
6179198 1981

Variations for Shone Complex

ClinVar genetic disease variations for Shone Complex:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NOTCH1 NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His)SNV Conflicting interpretations of pathogenicity 429382 rs375018022 9:139399245-139399245 9:136504793-136504793

Expression for Shone Complex

Search GEO for disease gene expression data for Shone Complex.

Pathways for Shone Complex

GO Terms for Shone Complex

Sources for Shone Complex

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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