MCID: SBV001
MIFTS: 27

Subvalvular Aortic Stenosis

Categories: Rare diseases, Cardiovascular diseases

Aliases & Classifications for Subvalvular Aortic Stenosis

MalaCards integrated aliases for Subvalvular Aortic Stenosis:

Name: Subvalvular Aortic Stenosis 12 76 53 29 6 15
Aortic Stenosis, Subvalvular 44
Subaortic Stenosis 73

Classifications:



External Ids:

Disease Ontology 12 DOID:5805
MeSH 44 D001020
NCIt 50 C85172
SNOMED-CT 68 204368006 250915007
UMLS 73 C0340375

Summaries for Subvalvular Aortic Stenosis

MalaCards based summary : Subvalvular Aortic Stenosis, also known as aortic stenosis, subvalvular, is related to ventricular septal defect and beckwith-wiedemann syndrome. An important gene associated with Subvalvular Aortic Stenosis is CRELD1 (Cysteine Rich With EGF Like Domains 1), and among its related pathways/superpathways is Sphingolipid metabolism. Affiliated tissues include heart, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 76 Canine subvalvular aortic stenosis (SAS) is an abnormal, congenital heart murmur caused by subaortic... more...

Related Diseases for Subvalvular Aortic Stenosis

Diseases related to Subvalvular Aortic Stenosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 ventricular septal defect 10.2
2 beckwith-wiedemann syndrome 9.9
3 marfan syndrome 9.9
4 pulmonic stenosis 9.9
5 congestive heart failure 9.9
6 pulmonary edema 9.9
7 hypertrophic cardiomyopathy 9.9
8 tuberous sclerosis 9.9
9 double outlet right ventricle 9.9
10 aortic coarctation 9.9
11 congenital mitral stenosis 9.9
12 depression 9.9
13 aneurysm 9.9
14 discrete subaortic stenosis 8.7 BAG6 CRELD1 NEU2

Graphical network of the top 20 diseases related to Subvalvular Aortic Stenosis:



Diseases related to Subvalvular Aortic Stenosis

Symptoms & Phenotypes for Subvalvular Aortic Stenosis

GenomeRNAi Phenotypes related to Subvalvular Aortic Stenosis according to GeneCards Suite gene sharing:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 9.61 CRELD1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.61 CRELD1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.61 SPTLC1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.61 CRELD1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.61 CRELD1 SPTLC1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.61 CRELD1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.61 SPTLC1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.61 SPTLC1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.32 SPTLC1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.32 CRELD1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.32 CRELD1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.32 CRELD1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.32 SPTLC1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.32 SPTLC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.32 SPTLC1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.32 SPTLC1 CRELD1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.32 SPTLC1
18 Decreased HPV16-GFP infection GR00350-A 9.16 BAG6 PICALM

Drugs & Therapeutics for Subvalvular Aortic Stenosis

Search Clinical Trials , NIH Clinical Center for Subvalvular Aortic Stenosis

Cochrane evidence based reviews: aortic stenosis, subvalvular

Genetic Tests for Subvalvular Aortic Stenosis

Genetic tests related to Subvalvular Aortic Stenosis:

# Genetic test Affiliating Genes
1 Subvalvular Aortic Stenosis 29

Anatomical Context for Subvalvular Aortic Stenosis

MalaCards organs/tissues related to Subvalvular Aortic Stenosis:

41
Heart

Publications for Subvalvular Aortic Stenosis

Articles related to Subvalvular Aortic Stenosis:

(show top 50) (show all 88)
# Title Authors Year
1
Subvalvular aortic stenosis: a review of current literature. ( 29377232 )
2018
2
Severe Valvular Aortic Stenosis and Fixed Subvalvular Aortic Stenosis: A Rare and Challenging Combination. ( 28820560 )
2017
3
Unrecognized subvalvular aortic stenosis: Lessons, insights, and solutions. ( 28833554 )
2017
4
Continuous spinal labor analgesia for two deliveries in a parturient with severe subvalvular aortic stenosis. ( 27549335 )
2016
5
Subvalvular Aortic Stenosis. ( 26731888 )
2015
6
Long-term outcomes and risk factors for aortic regurgitation after discrete subvalvular aortic stenosis resection in children. ( 26238147 )
2015
7
Severe Gastrointestinal Bleeding in a Patient With Subvalvular Aortic Stenosis Treated With Thalidomide and Octreotide: Bridging to Transcoronary Ablation of Septal Hypertrophy. ( 26491506 )
2015
8
A single codon insertion in the PICALM gene is not associated with subvalvular aortic stenosis in Newfoundland dogs. ( 25391634 )
2014
9
Paediatric subvalvular aortic stenosis: a systematic review and meta-analysis of natural history and surgical outcome. ( 25378361 )
2014
10
A single codon insertion in PICALM is associated with development of familial subvalvular aortic stenosis in Newfoundland dogs. ( 24898977 )
2014
11
Evaluation of subvalvular aortic stenosis in children: a 16-year single-center experience. ( 23456292 )
2013
12
Combined subvalvular aortic stenosis, subvalvular pulmonary stenosis and membranous ventricular septal defect. ( 23907922 )
2013
13
Subvalvular aortic stenosis diagnosed by 3D transesophageal echocardiography. ( 27277102 )
2013
14
Familial subvalvular aortic stenosis in golden retrievers: inheritance and echocardiographic findings. ( 22417094 )
2012
15
Recurrent subaortic membrane causing subvalvular aortic stenosis 13 years after primary surgical resection. ( 21367685 )
2011
16
Multidetector computed tomographic assessment of subvalvular aortic stenosis. ( 21216335 )
2011
17
Subvalvular aortic stenosis. ( 20145603 )
2010
18
Percutaneous relief of valvular and subvalvular aortic stenosis. ( 20333773 )
2010
19
Mitral insufficiency 30 years after resection of subvalvular aortic stenosis. ( 20304862 )
2010
20
Echo rounds: discrete subvalvular aortic stenosis. ( 20142351 )
2010
21
Subvalvular aortic stenosis associated with valvular aortic regurgitation in young child. ( 18199503 )
2009
22
Asymptomatic double site of left ventricular outflow tract obstruction: subvalvular aortic stenosis associated with valvular aortic stenosis. ( 18160150 )
2009
23
Congenital mitral stenosis, subvalvular aortic stenosis, and congestive heart failure in a duck. ( 18485855 )
2008
24
Subvalvular aortic stenosis: comprehensive cardiac evaluation with dual-source computed tomography. ( 17599520 )
2007
25
A patient with cardiac fibroma and a subvalvular aortic stenosis caused by a subvalvular membrane. ( 17617321 )
2007
26
Subvalvular aortic stenosis as a cause of sudden death: two case reports. ( 16501359 )
2006
27
Survival times in dogs with severe subvalvular aortic stenosis treated with balloon valvuloplasty or atenolol. ( 16121608 )
2005
28
The relationship of resting S-T segment depression to the severity of subvalvular aortic stenosis and the presence of ventricular premature complexes in the dog. ( 14736901 )
2004
29
Surgical correction of subvalvular aortic stenosis using cardiopulmonary bypass in a dog. ( 15187370 )
2004
30
Chordae tendineae rupture resulting in pulmonary edema in a patient with discrete subvalvular aortic stenosis--a case report and literature review. ( 14565639 )
2003
31
Discrete subvalvular aortic stenosis in adults. ( 11291980 )
2001
32
Subvalvular Aortic Stenosis. ( 11096556 )
2000
33
Influence of open surgical correction on intermediate-term outcome in dogs with subvalvular aortic stenosis: 44 cases (1991-1998). ( 10668534 )
2000
34
Discrete subvalvular aortic stenosis. ( 11310391 )
2000
35
Type II aortic dissection complicating discrete subvalvular aortic stenosis in an adult man. ( 9571593 )
1998
36
Clinical and pathological findings of severe subvalvular aortic stenosis and mitral dysplasia in a rottweiler puppy. ( 9816571 )
1998
37
Surgical management of subvalvular aortic stenosis and mitral dysplasia in a golden retriever. ( 9200115 )
1997
38
Open resection for subvalvular aortic stenosis in dogs. ( 8837645 )
1996
39
&amp;quot;Diverticula&amp;quot; of anterior mitral valve leaflet as a cause of subvalvular aortic stenosis. ( 8793682 )
1996
40
&amp;quot;Acquired&amp;quot; subvalvular aortic stenosis after repair of several congenital cardiac defects. ( 8701481 )
1996
41
Familial bilateral blepharoptosis and subvalvular aortic stenosis. ( 8588851 )
1995
42
Transaortic resection of the subaortic membrane. Treatment for subvalvular aortic stenosis. ( 8020319 )
1994
43
Pulmonic stenosis and subvalvular aortic stenosis: surgical options. ( 7839033 )
1994
44
Discrete subvalvular aortic stenosis in the Beckwith-Wiedemann syndrome. ( 8415229 )
1993
45
Ventricular septal defect creation for relief of tunnel subvalvular aortic stenosis. ( 8452447 )
1993
46
Resection of subvalvular aortic stenosis. Surgical and perioperative management in seven dogs. ( 8116196 )
1993
47
&amp;quot;Acquired&amp;quot; subvalvular aortic stenosis after repair of a ventricular septal defect. ( 1729055 )
1992
48
Closed transventricular dilation of discrete subvalvular aortic stenosis in dogs. ( 1455646 )
1992
49
Discrete subvalvular aortic stenosis: is the presence of upstream complex blood flow disturbances an important pathogenic factor? ( 1545078 )
1992
50
Echocardiographic assessment of subvalvular aortic stenosis before and after operation. ( 1552088 )
1992

Variations for Subvalvular Aortic Stenosis

ClinVar genetic disease variations for Subvalvular Aortic Stenosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DSP NM_004415.3(DSP): c.2550_2552dupTCT (p.Leu851_Asp852insLeu) duplication Uncertain significance rs730880373 GRCh37 Chromosome 6, 7575641: 7575643
2 DSP NM_004415.3(DSP): c.2550_2552dupTCT (p.Leu851_Asp852insLeu) duplication Uncertain significance rs730880373 GRCh38 Chromosome 6, 7575408: 7575410

Expression for Subvalvular Aortic Stenosis

Search GEO for disease gene expression data for Subvalvular Aortic Stenosis.

Pathways for Subvalvular Aortic Stenosis

Pathways related to Subvalvular Aortic Stenosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.03 NEU2 SPTLC1

GO Terms for Subvalvular Aortic Stenosis

Cellular components related to Subvalvular Aortic Stenosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 8.8 BAG6 NEU2 PICALM

Sources for Subvalvular Aortic 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
Content
Loading form....