MCID: DSC003
MIFTS: 26

Discrete Subaortic Stenosis

Categories: Cardiovascular diseases

Aliases & Classifications for Discrete Subaortic Stenosis

MalaCards integrated aliases for Discrete Subaortic Stenosis:

Name: Discrete Subaortic Stenosis 12 44 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:5804
MeSH 44 D021922
UMLS 73 C0012628

Summaries for Discrete Subaortic Stenosis

MalaCards based summary : Discrete Subaortic Stenosis is related to endocarditis and aneurysm. An important gene associated with Discrete Subaortic Stenosis is NEU2 (Neuraminidase 2), and among its related pathways/superpathways are Primary Focal Segmental Glomerulosclerosis FSGS and Cardiac Progenitor Differentiation. Affiliated tissues include heart, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Discrete Subaortic Stenosis

Graphical network of the top 20 diseases related to Discrete Subaortic Stenosis:



Diseases related to Discrete Subaortic Stenosis

Symptoms & Phenotypes for Discrete Subaortic Stenosis

GenomeRNAi Phenotypes related to Discrete Subaortic Stenosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 9.4 CRELD1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.4 BAG6 CRELD1 NODAL
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.4 NODAL
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.4 CRELD1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.4 NODAL
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.4 CRELD1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.4 CRELD1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.4 BAG6
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.4 BAG6
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.4 BAG6

Drugs & Therapeutics for Discrete Subaortic Stenosis

Search Clinical Trials , NIH Clinical Center for Discrete Subaortic Stenosis

Cochrane evidence based reviews: discrete subaortic stenosis

Genetic Tests for Discrete Subaortic Stenosis

Anatomical Context for Discrete Subaortic Stenosis

MalaCards organs/tissues related to Discrete Subaortic Stenosis:

41
Heart

Publications for Discrete Subaortic Stenosis

Articles related to Discrete Subaortic Stenosis:

(show top 50) (show all 125)
# Title Authors Year
1
Resection of subaortic membrane for discrete subaortic stenosis. ( 28609808 )
2017
2
Percutaneous Balloon Dilation of Discrete Subaortic Stenosis: A Futile Exercise. ( 28878105 )
2017
3
Acquired discrete subaortic stenosis late after mitral valve replacement. ( 27751257 )
2016
4
Severe mitral regurgitation due to anterior mitral leaflet perforation after surgical treatment of discrete subaortic stenosis. ( 24859561 )
2014
5
Acquired discrete subaortic stenosis in solid organ transplant recipients. ( 24814282 )
2014
6
LV outflow tract area in discrete subaortic stenosis and hypertrophic obstructive cardiomyopathy: a real-time 3-dimensional transesophageal echocardiography study. ( 24742893 )
2014
7
Discrete subaortic stenosis diagnosed intraoperatively. ( 23975357 )
2013
8
Outcomes and questions about discrete subaortic stenosis. ( 23569118 )
2013
9
Congenital discrete subaortic stenosis in pregnancy: case report and literature review. ( 24151775 )
2013
10
Surgical outcome of discrete subaortic stenosis in adults: a multicenter study. ( 23426105 )
2013
11
Case images: coexistence of discrete subaortic stenosis and unruptured sinus Valsalva aneurysm obstructing the right ventricular outflow tract. ( 22864332 )
2012
12
Discrete subaortic stenosis 37 years after repair of a ventricular septal defect. ( 22286601 )
2012
13
Discrete subaortic stenosis in a patient with a history of repaired AV canal defect. ( 21929585 )
2011
14
A case of successful valve repair for aortic insufficiency associated with discrete subaortic stenosis. ( 21881383 )
2011
15
Discrete subaortic stenosis in an adult nigerian: a case report. ( 22752829 )
2011
16
The role of shear stress in the pathogenesis of discrete subaortic stenosis: implications for surgical treatment. ( 21560809 )
2011
17
Long-term outcome of patients with isolated thin discrete subaortic stenosis treated by balloon dilation: a 25-year study. ( 21875907 )
2011
18
Long-term pediatric outcome of isolated discrete subaortic stenosis. ( 21507602 )
2011
19
Treatment of severe valvular aortic stenosis and subvalvular discrete subaortic stenosis and septal hypertrophy with Percutaneous CoreValve Aortic Valve Implantation. ( 20091816 )
2010
20
eComment: Discrete subaortic stenosis following repair of atrioventricular septal defects. ( 19546296 )
2009
21
Progressive discrete subaortic stenosis developed after successful primary repair of the supravalvular aortic stenosis in Williams syndrome. ( 19653183 )
2009
22
The role of enucleation with or without septal myectomy for discrete subaortic stenosis. ( 19379985 )
2009
23
Steepened aortoseptal angle may be a risk factor for discrete subaortic stenosis in adults. ( 17434614 )
2008
24
Discrete subaortic stenosis in elderly women. ( 17045537 )
2008
25
Risk factors for reoperation after repair of discrete subaortic stenosis in children. ( 17919571 )
2007
26
Isolated left ventricular pulsus alternans; an echocardiographic finding in a patient with discrete subaortic stenosis and infective endocarditis. ( 17347084 )
2007
27
Discrete subaortic stenosis associated with calcific aortic stenosis in the elderly. ( 17906491 )
2007
28
Discrete subaortic stenosis after the correction of atrioventricular septal defect in an adult. ( 15985300 )
2006
29
Echocardiographic follow-up of children with isolated discrete subaortic stenosis. ( 17111294 )
2006
30
Incidental detection of parvovirus myocarditis at time of resection of discrete subaortic stenosis. ( 17116276 )
2006
31
Correction of discrete subaortic stenosis with abnormal chordae tendineae. ( 16684058 )
2006
32
Recurrent discrete subaortic stenosis and small aortic annulus successfully repaired by the Konno procedure in a young woman. ( 17087328 )
2006
33
Saccular aneurysm of the aortic cusp associated with discrete subaortic stenosis. ( 16305914 )
2005
34
Discrete subaortic stenosis: long-term prognosis on the progression of the obstruction and of the aortic insufficiency. ( 15692914 )
2005
35
Detection of discrete subaortic stenosis by 3-dimensional transesophageal echocardiography. ( 16194174 )
2005
36
Natural history and risk stratification of discrete subaortic stenosis in children: an echocardiographic study. ( 15026853 )
2004
37
Mitral valve-sparing operation in subaortic stenosis caused by anomalous papillary muscle and discrete subaortic stenosis. ( 12830087 )
2003
38
Discrete subaortic stenosis: surgical outcomes and follow-up results. ( 14677738 )
2003
39
Discrete subaortic stenosis: incidence, morphology and surgical impact of associated subaortic anomalies. ( 12822612 )
2003
40
Relation of the discrete subaortic stenosis position to mitral valve function. ( 12480061 )
2002
41
Mitral valvar anomalies and discrete subaortic stenosis. ( 12018718 )
2002
42
Rheology of discrete subaortic stenosis. ( 12231585 )
2002
43
Discrete subaortic stenosis in adults: increased prevalence and slow rate of progression of the obstruction and aortic regurgitation. ( 11527642 )
2001
44
Marfan's syndrome, dextrocardia and situs inversus associated with discrete subaortic stenosis and aortic insufficiency in an adult female: case report. ( 11380111 )
2001
45
Echocardiographic, morphologic, and geometric variations of the left ventricular outflow tract: possible role in the pathogenesis of discrete subaortic stenosis. ( 10744009 )
2000
46
Balloon dilation of discrete subaortic stenosis: are we postponing the inevitable? ( 10745511 )
1999
47
Discrete subaortic stenosis. ( 10485434 )
1999
48
Natural history and surgical outcomes for isolated discrete subaortic stenosis in children. ( 10573499 )
1999
49
Balloon dilation of discrete subaortic stenosis associated with other cardiac defects in children. ( 10745497 )
1999
50
Discrete subaortic stenosis: assessing adequacy of myectomy by transesophageal echocardiography. ( 10875588 )
1999

Variations for Discrete Subaortic Stenosis

Expression for Discrete Subaortic Stenosis

Search GEO for disease gene expression data for Discrete Subaortic Stenosis.

Pathways for Discrete Subaortic Stenosis

Pathways related to Discrete Subaortic Stenosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.02 NOTCH1 NPHS2
2 10.68 NODAL NOTCH1
3 10.3 NODAL NOTCH1

GO Terms for Discrete Subaortic Stenosis

Biological processes related to Discrete Subaortic Stenosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.48 NODAL NOTCH1
2 determination of left/right symmetry GO:0007368 9.46 NODAL NOTCH1
3 negative regulation of cell differentiation GO:0045596 9.43 NODAL NOTCH1
4 brain development GO:0007420 9.43 BAG6 NODAL NOTCH1
5 cell fate commitment GO:0045165 9.4 NODAL NOTCH1
6 positive regulation of epithelial cell proliferation GO:0050679 9.37 NODAL NOTCH1
7 heart looping GO:0001947 9.32 NODAL NOTCH1
8 endoderm development GO:0007492 9.16 NODAL NOTCH1
9 endocardial cushion development GO:0003197 8.96 CRELD1 NOTCH1
10 lung development GO:0030324 8.8 BAG6 NODAL NOTCH1

Sources for Discrete Subaortic Stenosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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