SVAS
MCID: SPR004
MIFTS: 51

Supravalvular Aortic Stenosis (SVAS)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Supravalvular Aortic Stenosis

MalaCards integrated aliases for Supravalvular Aortic Stenosis:

Name: Supravalvular Aortic Stenosis 57 12 53 25 59 75 15 38 73
Supravalvar Aortic Stenosis 57 29 13 6 40
Svas 57 53 25 59 75
Supravalvar Aortic Stenosis, Eisenberg Type 57 53
Aortic Stenosis, Supravalvular 25 44
Aortic Supravalvular Stenosis 76 53
Supra-Valvular Aortic Stenosis 12
Stenosis, Aortic Supravalvular 25
Stenosis, Supravalvular Aortic 25
Supravalvular Stenosis, Aortic 25
Aortic Stenosis Supravalvular 55

Characteristics:

Orphanet epidemiological data:

59
supravalvular aortic stenosis
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-5/10000 (Europe); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
supravalvular aortic stenosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 185500
Disease Ontology 12 DOID:1929
ICD10 33 Q25.3
MeSH 44 D021921
NCIt 50 C85176
Orphanet 59 ORPHA3193
MESH via Orphanet 45 D021921
ICD10 via Orphanet 34 Q25.3
UMLS via Orphanet 74 C0003499 C1305147
UMLS 73 C0003499

Summaries for Supravalvular Aortic Stenosis

NIH Rare Diseases : 53 Supravalvular aortic stenosis (SVAS) is a type of heart defect that develops before birth. It is characterized by a narrowing (stenosis) of the section of the aorta just above the valve that connects the aorta to the heart (aortic valve). The severity of SVAS varies from person to person; some individuals may die in infancy while others never experience symptoms. If symptoms develop, they may include shortness of breath, chest pain, murmur, and/or eventual heart failure. Some affected individuals also have defects in other blood vessels, such as the pulmonary artery. SVAS can be caused by mutations in the ELN gene and be inherited in an autosomal dominant manner, although some individuals that inherit the mutated gene never develop features of the condition (called reduced penetrance). SVAS can also be associated with Williams syndrome. Treatment may include surgery to repair the condition in severe cases.

MalaCards based summary : Supravalvular Aortic Stenosis, also known as supravalvar aortic stenosis, is related to williams-beuren syndrome and cutis laxa. An important gene associated with Supravalvular Aortic Stenosis is ELN (Elastin), and among its related pathways/superpathways are Integrin Pathway and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. The drugs Hydrocortisone acetate and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and bone, and related phenotypes are arrhythmia and supravalvular aortic stenosis

Disease Ontology : 12 An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart.

Genetics Home Reference : 25 Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure.

UniProtKB/Swiss-Prot : 75 Supravalvular aortic stenosis: Congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome.

Wikipedia : 76 Aortic stenosis (AS or AoS) is the narrowing of the exit of the left ventricle of the heart (where the... more...

Description from OMIM: 185500

Related Diseases for Supravalvular Aortic Stenosis

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

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 williams-beuren syndrome 32.3 PDLIM1 LIMK1 GTF2I ELN
2 cutis laxa 30.2 ELN FBLN5
3 mitral valve insufficiency 30.2 PDLIM1 FBN1
4 aortic valve disease 1 30.1 PDLIM1 FBN1 ELN
5 intracranial aneurysm 30.0 LIMK1 ELN
6 aortic valve insufficiency 30.0 FBN1 ELN
7 aortic aneurysm 29.7 FBN1 FBLN5 ELN
8 aneurysm of sinus of valsalva 11.7
9 dystonia 3, torsion, x-linked 11.4
10 hypercholesterolemia, familial 10.5
11 peripheral pulmonary stenosis 10.4
12 homozygous familial hypercholesterolemia 10.3
13 myocardial infarction 10.3
14 albinism 10.2
15 vascular disease 10.2
16 coronary stenosis 10.2
17 rubella 10.2
18 aortic coarctation 10.2
19 muscular dystrophy 10.1
20 cardiac arrest 10.1
21 ischemia 10.1
22 acquired cutis laxa 10.1 FBLN5 ELN
23 cutis laxa, autosomal dominant 2 10.1 FBLN5 ELN
24 autosomal recessive cutis laxa type i 10.1 FBLN5 ELN
25 chromosomal deletion syndrome 10.1 GTF2I ELN
26 pelvic organ prolapse 10.0 FBLN5 ELN
27 atherosclerosis susceptibility 10.0
28 cardiac conduction defect 10.0
29 coarctation of aorta 10.0
30 fibromuscular dysplasia 10.0
31 takayasu arteritis 10.0
32 brittle bone disorder 10.0
33 angina pectoris 10.0
34 chronic granulomatous disease 10.0
35 atrioventricular block 10.0
36 first-degree atrioventricular block 10.0
37 thrombosis 10.0
38 endocarditis 10.0
39 heart disease 10.0
40 familial hyperlipidemia 10.0
41 dermatitis 10.0
42 long qt syndrome 10.0
43 coronary aneurysm 10.0
44 aortitis 10.0
45 discrete subaortic stenosis 10.0
46 coronary artery aneurysm 10.0
47 idiopathic infantile hypercalcemia 10.0
48 dysphagia 10.0
49 microtia 10.0
50 cleft mitral valve 10.0

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



Diseases related to Supravalvular Aortic Stenosis

Symptoms & Phenotypes for Supravalvular Aortic Stenosis

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
pulmonary artery stenosis
supravalvar aortic stenosis
pulmonary valvular stenosis

Vascular:
peripheral arterial stenosis


Clinical features from OMIM:

185500

Human phenotypes related to Supravalvular Aortic Stenosis:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011675
2 supravalvular aortic stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004381
3 pulmonic stenosis 32 HP:0001642
4 pulmonary artery stenosis 32 HP:0004415
5 peripheral arterial stenosis 32 HP:0004950

Drugs & Therapeutics for Supravalvular Aortic Stenosis

Drugs for Supravalvular Aortic Stenosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 103)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
2
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
3
Kinetin Approved Phase 4 525-79-1 3830
4
Ethanol Approved Phase 4,Not Applicable 64-17-5 702
5
Tocopherol Approved, Investigational Phase 4 1406-66-2 14986
6
Polidocanol Approved Phase 4 9002-92-0
7
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
8
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
9 Tocotrienol Investigational Phase 4 6829-55-6
10 Aloe Phase 4
11 Cortisol succinate Phase 4
12 Hydrocortisone 17-butyrate 21-propionate Phase 4
13 Hydrocortisone-17-butyrate Phase 4
14 Anti-Inflammatory Agents Phase 4
15 Soy Bean Phase 4
16 Phytosterol Phase 4
17 Tocotrienols Phase 4
18 Tocopherols Phase 4
19 Citrate Phase 4
20 Mitogens Phase 4
21 Carbopol 940 Phase 4
22 Hormone Antagonists Phase 4,Not Applicable
23 Estrogens, Conjugated (USP) Phase 4
24 Hormones Phase 4,Not Applicable
25 Estrogens Phase 4,Not Applicable
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Not Applicable
27
Angiotensin II Approved, Investigational Phase 3 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
28
Candesartan cilexetil Approved Phase 3 145040-37-5 2540
29
Glycerol Approved, Investigational Phase 3 56-81-5 753
30
Candesartan Experimental Phase 3 139481-59-7 2541
31 Angiotensin II Type 1 Receptor Blockers Phase 3
32 Antihypertensive Agents Phase 3,Phase 2
33 Angiotensin Receptor Antagonists Phase 3
34 Angiotensinogen Phase 3
35 Hemostatics Phase 3
36 acivicin Phase 3
37
Hyaluronic acid Approved, Vet_approved Phase 2,Phase 1,Not Applicable 9004-61-9 53477741
38
Minoxidil Approved, Investigational Phase 2 38304-91-5 4201
39
Protein C Approved Phase 2
40
Serine Approved, Nutraceutical Phase 2 56-45-1 5951
41 Protective Agents Phase 2,Phase 1,Not Applicable
42 Adjuvants, Immunologic Phase 2,Phase 1,Not Applicable
43 Viscosupplements Phase 2,Phase 1,Not Applicable
44 Pharmaceutical Solutions Phase 2,Not Applicable
45 Immunologic Factors Phase 2,Phase 1,Not Applicable
46 Vasodilator Agents Phase 2
47 HIV Protease Inhibitors Phase 2
48 Alpha 1-Antitrypsin Phase 2
49 Trypsin Inhibitors Phase 2
50 Serine Proteinase Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 65)
# Name Status NCT ID Phase Drugs
1 Aruba Aloe Formula F-BC-096 in the Treatment of Split Thickness Donor Site After Wound Closure Completed NCT01213420 Phase 4
2 Steroids in Bilateral Total Knee Replacement Completed NCT01399268 Phase 4 Hydrocortisone;Saline
3 Efficacy and Safety of Kinetin 0.1% for Treatment of Skin Photoaging Completed NCT01898182 Phase 4
4 Effect of Preoperative Estrogen Treatment on Connective Tissues of the Pelvic Floor Completed NCT01778985 Phase 4 Premarin
5 Hormonal Status on Blood Flow and Tissue in Pelvic Organ Prolapse Recruiting NCT01886794 Phase 4 Postmenopausal, topical vaginal cream;Placebo Comparator: Postmenopausal, topical placebo cream
6 A Comparison of OASIS Wound Matrix With Approved Dressings for Skin Graft Donor Sites Withdrawn NCT02994589 Phase 4
7 The Potential of Candesartan to Retard the Progression of Aortic Stenosis Unknown status NCT00699452 Phase 3 candesartan;placebo
8 Application of Cultured Autologous Keratinocytes for Burn Wound Healing Completed NCT00832156 Phase 3
9 Dermal Substitute and Topical Negative Pressure in Burns Completed NCT00548314 Phase 3
10 Efficacy of Collagen-elastin Dermal Substitute in the Treatment of Loss of Cutaneous Substances With Skin Grafts Recruiting NCT02090361 Phase 3
11 Glyaderm Clinical Evaluation Multicenter Study Terminated NCT01616043 Phase 3
12 Ligasure II: Standard Stapling Versus Ligasure Terminated NCT01349426 Phase 3
13 Safety Study of CTX-100 Inhalation Solution (Formerly ETX-100) Unknown status NCT00993707 Phase 2 CTX-100 (formerly ETX-100) (hyaluronic acid)
14 Efficacy of Minoxidil in Children With Williams-Beuren Syndrome Completed NCT00876200 Phase 2 Minoxidil;Placebo
15 Split-face Comparison Study to Assess ELAPR Compared to Juvéderm® for the Treatment of Nasolabial Folds Completed NCT01463657 Phase 1, Phase 2
16 Effect of Double Dose of Alpha 1-antitrypsin Augmentation Therapy on Lung Inflammation. Completed NCT01669421 Phase 2 Alpha-1 Antitrypsin (human)
17 Safety Study of Bone Marrow Derived Stem Cells on Patients With Cutaneous Photoaging Suspended NCT01771679 Phase 1, Phase 2
18 Safety Study of Three Formulations of the Dermal Implant ELAPR Completed NCT01467778 Phase 1
19 Two Formulations of ELAPR Compared to Restylane® Vital Light Following Repeat Implants in the Upper Arm Dermis Completed NCT01466413 Phase 1
20 A Study to Evaluate the Efficacy of ELAPR in Women With Striae Distensae Alba Completed NCT02510768 Phase 1
21 Using Autologous Platelet Rich Plasma (PRP) Gel to Treat Deep 2nd and 3rd Degree Burns Active, not recruiting NCT01843686 Phase 1
22 Potential Biomarkers for Early Diagnosis of Acute Aortic Dissection Unknown status NCT01860768
23 EnSeal Efficacy and Bursting Pressure in Human Vessels Unknown status NCT01312246 Not Applicable
24 Pre-operative Diet: Effect of Wound Healing After Bariatric Surgery Unknown status NCT01950052 Not Applicable
25 National Congenital Heart Disease Audit Unknown status NCT02303535
26 Evaluating Genetic Factors That May Contribute to Elastin Function and the Development of Chronic Obstructive Pulmonary Disease Completed NCT00725309
27 A Study to Evaluate the Efficacy of ELAPR002f in Females and Males With Atrophic Acne Scars Completed NCT03056235 Not Applicable
28 Ancillary T Cell Based Studies in SPIROMICS Completed NCT02036190
29 Alterations in Connective Tissue in Patients With or Without Pelvic Organ Prolapse Completed NCT01749696
30 The Effects of Microdermabrasion on Skin Remodeling Completed NCT00111254 Not Applicable
31 Vitamin D Metabolism and the Williams Syndrome Completed NCT00013962 Vitamin D
32 Assessing the Effects of Tretinoin Cream on Human Skin With Optical Imaging Technologies Completed NCT02410980 Early Phase 1 Tretinoin cream 0.1%
33 Mechanisms of Skin Repair by Topical Estrogen Completed NCT00113100 Not Applicable Topical 17-beta estradiol in ethanol/propylene glycol (ETOH/PG)
34 WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study) Completed NCT02692846
35 Evaluation of Safety and Efficacy of Micro-coring Device for Treatment of Facial Wrinkles and Skin Laxity Completed NCT03228641 Not Applicable
36 Biomarkers of Injury and Destruction in the Cystic Fibrosis Lung Completed NCT01805713
37 Study of the Pathobiology of Bronchopulmonary Dysplasia in Newborns Completed NCT00006058
38 Efficacy and Tolerance Evaluation of an Amino Acid Food Supplement Completed NCT03801343 Not Applicable
39 FDG-PET Imaging in Young Cystic Fibrosis Patients Completed NCT00846053 Not Applicable
40 Influence of of Cream With the Silver Fir Wood Extract (Belinal) on Skin Completed NCT02603029 Not Applicable
41 Investigation of the Pain Relieving Properties of Lipotransplantation After Treatment for Breast Cancer Completed NCT01888419 Not Applicable
42 Identification of Genetic Markers for Cardiopulmonary Diseases (Genotype) Completed NCT00616369
43 A Study Using Fractional Carbon Dioxide and Long Pulsed Neodymium-yttrium Aluminum Garnet Lasers in Treatment of Keloids Completed NCT03460431 Not Applicable
44 Histological Study to Evaluate Skin Changes After PicoWay® 1064 nm and 532nm Picosecond Fractional Laser Treatment Completed NCT02700204 Not Applicable
45 Assessment of the Impact of a Coenzyme Q10 Supplementation on the Skin Completed NCT02604641 Not Applicable
46 Fat Grafting in Skin-grafted Deep Burn Scars Completed NCT03627650 Not Applicable
47 Evaluation of Fractional Bipolar Radiofrequency for the Treatment of Striae Completed NCT01788748 Not Applicable
48 Caesarean Scar Revision With the UltraPulse Completed NCT02050126 Not Applicable
49 Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank Recruiting NCT02706639
50 Impact of Elastin Mediated Vascular Stiffness on End Organs Recruiting NCT02840448

Search NIH Clinical Center for Supravalvular Aortic Stenosis

Cochrane evidence based reviews: aortic stenosis, supravalvular

Genetic Tests for Supravalvular Aortic Stenosis

Genetic tests related to Supravalvular Aortic Stenosis:

# Genetic test Affiliating Genes
1 Supravalvar Aortic Stenosis 29 ELN

Anatomical Context for Supravalvular Aortic Stenosis

MalaCards organs/tissues related to Supravalvular Aortic Stenosis:

41
Heart, Lung, Bone, Testes, Prostate

Publications for Supravalvular Aortic Stenosis

Articles related to Supravalvular Aortic Stenosis:

(show top 50) (show all 344)
# Title Authors Year
1
Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis. ( 30228022 )
2019
2
Brom Aortoplasty for Supravalvular Aortic Stenosis. ( 29544418 )
2018
3
Supravalvular aortic stenosis with a chronic type A aortic dissection. ( 29569749 )
2018
4
Two Cases of Surgical Management of Supravalvular Aortic Stenosis in Familial Hypercholesterolemia. ( 29571349 )
2018
5
Early and mid-term outcomes after surgical repair of congenital supravalvular aortic stenosis with the Doty technique. ( 30024395 )
2018
6
Familial hypercholesterolemia supravalvular aortic stenosis and extensive atherosclerosis. ( 30170656 )
2018
7
Balloon angioplasty for supravalvular aortic stenosis as an early complication following arterial switch operation. ( 30271025 )
2018
8
Surgical Correction of Supravalvar Aortic Stenosis: 52 Years' Experience. ( 29544407 )
2018
9
Congenital combined atresia of the left main coronary with supravalvar aortic stenosis. ( 30333339 )
2018
10
Isolated supravalvular aortic stenosis with left ventricular diverticulum and cleft mitral valve: Surgical repair in adulthood. ( 28983175 )
2017
11
Aspergillus Infection in an Immunocompetent Host With Supravalvular Aortic Stenosis. ( 29130815 )
2017
12
Early and late outcomes after surgical repair of congenital supravalvular aortic stenosis: a European Congenital Heart Surgeons Association multicentric study. ( 29156017 )
2017
13
Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm. ( 27866049 )
2017
14
What's the Skinny on Elastin Deficiency and Supravalvular Aortic Stenosis? ( 28446468 )
2017
15
Isolated Diffuse Supravalvular Aortic Stenosis with Severe Aortic Narrowing in a 41-Year-Old Man. ( 28878586 )
2017
16
High-pressure balloon dilation in a dog with supravalvular aortic stenosis. ( 27806903 )
2017
17
Diminutive Porcelain Ascending Aorta with Supravalvular Aortic Stenosis. ( 29274695 )
2017
18
Non ST-Elevation Myocardial Infarction in a Patient with Supravalvular Aortic Stenosis. Role of Multi-Modality Imaging. ( 28821896 )
2017
19
Evaluation of the congenital supravalvular aortic stenosis by different imaging modalities. ( 28681443 )
2017
20
Importance of SERCA2a on early isolated diastolic dysfunction induced by supravalvular aortic stenosis in rats. ( 28423119 )
2017
21
Surgical strategies and outcomes of congenital supravalvular aortic stenosis. ( 28967205 )
2017
22
Successful delivery in a patient with isolated supravalvular aortic stenosis. ( 27919165 )
2017
23
Novel three-sinus enlargement technique for supravalvular aortic stenosis without aortic transection. ( 26772811 )
2016
24
Disseminated Peripheral Mycotic Aneurysms and Septic Embolizations Related to an Infected Stent Deployed for Restenosis of Surgically Repaired Supravalvular Aortic Stenosis. ( 26715003 )
2016
25
Bovine aortic arch with supravalvular aortic stenosis. ( 27751339 )
2016
26
Iatrogenic Supravalvular Aortic Stenosis. ( 28516093 )
2016
27
Integrin I^3 inhibition is a therapeutic strategy for supravalvular aortic stenosis. ( 26858344 )
2016
28
Recurrent pulseless electrical activity in a patient with coronary vasospasm and supravalvular aortic stenosis: a case report. ( 27216437 )
2016
29
Supravalvular aortic stenosis after arterial switch operation. ( 25957091 )
2016
30
Severe Congenital Obstruction of the Left Main Coronary Artery Coexisting With Supravalvular Aortic Stenosis in Williams Syndrome: A Dangerous Association. ( 26582765 )
2016
31
Iatrogenic supravalvular aortic stenosis detected by transesophageal echocardiography in a pediatric patient undergoing cardiac surgery. ( 25625252 )
2015
32
Supravalvular aortic stenosis associated to infectious endocarditis and cerebral vascular disease in a patient with Williams-Beuren Syndrome. ( 25882107 )
2015
33
Surgical repair of supravalvular aortic stenosis in children with williams syndrome: a 30-year experience. ( 25661907 )
2015
34
Cleft Anterior Mitral Leaflet with Supravalvular Aortic Stenosis a Rare Association. ( 26900420 )
2015
35
De novo obstruction after supravalvular aortic stenosis repair in Williams-Beuren syndrome. ( 25952214 )
2015
36
Idiopathic ascending aortitis as a rare cause of supravalvular aortic stenosis. ( 25861594 )
2015
37
Left coronary artery stenosis causing left ventricular dysfunction in two children with supravalvular aortic stenosis. ( 25870356 )
2015
38
Supravalvular aortic stenosis with sudden cardiac death. ( 26085765 )
2015
39
Cerebral Hyperperfusion Syndrome After Surgical Repair of Congenital Supravalvular Aortic Stenosis. ( 26354667 )
2015
40
Infective endarteritis in a case of supravalvular aortic stenosis. ( 30546528 )
2015
41
Late sequela of aortotomy in infancy: supravalvular aortic stenosis and aneurysmal changes of epiaortic branches. ( 24819359 )
2014
42
Supravalvular aortic stenosis as a non-syndromic familial disease. Relevance of familial screening. ( 24491872 )
2014
43
Myers' 3-sinus reconstruction for supravalvular aortic stenosis involving left coronary ostium: report of a case. ( 25366351 )
2014
44
Surgical treatment of valvular and supravalvular aortic stenosis in homozygous familial hypercholesterolemia. ( 24505024 )
2014
45
Supravalvular aortic stenosis in adult with anomalies of aortic arch vessels and aortic regurgitation. ( 24598962 )
2013
46
Takayasu arteritis combined with congenital supravalvular aortic stenosis. ( 23886030 )
2013
47
Outcome of Surgical Correction of Congenital Supravalvular Aortic Stenosis With Two- and Three-Sinus Reconstruction Techniques. ( 24266950 )
2013
48
Mid-term outcome after surgical repair of congenital supravalvular aortic stenosis by extended aortoplasty. ( 23793710 )
2013
49
Bentall procedure for an adult patient with supravalvular aortic stenosis and coronary aneurysms. ( 23879341 )
2013
50
A calcified sinutubular junction: the discovery of a supravalvular aortic stenosis in an elderly woman. ( 23640577 )
2013

Variations for Supravalvular Aortic Stenosis

ClinVar genetic disease variations for Supravalvular Aortic Stenosis:

6 (show top 50) (show all 297)
# Gene Variation Type Significance SNP ID Assembly Location
1 ELN ELN, 100-KB DEL deletion Pathogenic
2 ELN ELN, 30-KB DEL deletion Pathogenic
3 ELN ELN, IVS15AS, A-G, -2 single nucleotide variant Pathogenic
4 ELN NM_000501.3(ELN): c.1324C> T (p.Gln442Ter) single nucleotide variant Pathogenic rs137854452 GRCh37 Chromosome 7, 73471010: 73471010
5 ELN NM_000501.3(ELN): c.1324C> T (p.Gln442Ter) single nucleotide variant Pathogenic rs137854452 GRCh38 Chromosome 7, 74056680: 74056680
6 ELN NM_000501.3(ELN): c.1621C> T (p.Arg541Ter) single nucleotide variant Pathogenic rs137854453 GRCh37 Chromosome 7, 73474514: 73474514
7 ELN NM_000501.3(ELN): c.1621C> T (p.Arg541Ter) single nucleotide variant Pathogenic rs137854453 GRCh38 Chromosome 7, 74060184: 74060184
8 ELN ELN, 1-BP DEL, 1821C deletion Pathogenic
9 ELN ELN, 1-BP INS, FS615TER insertion Pathogenic
10 ELN ELN, IVS15AS, C-G, -3 single nucleotide variant Pathogenic
11 ELN ELN, 1-BP DEL, 1040C deletion Pathogenic
12 ELN NM_000501.3(ELN): c.450C> G (p.Tyr150Ter) single nucleotide variant Pathogenic rs137854454 GRCh37 Chromosome 7, 73458231: 73458231
13 ELN NM_000501.3(ELN): c.450C> G (p.Tyr150Ter) single nucleotide variant Pathogenic rs137854454 GRCh38 Chromosome 7, 74043901: 74043901
14 ELN NM_000501.3(ELN): c.526A> T (p.Lys176Ter) single nucleotide variant Pathogenic rs137854455 GRCh37 Chromosome 7, 73459608: 73459608
15 ELN NM_000501.3(ELN): c.526A> T (p.Lys176Ter) single nucleotide variant Pathogenic rs137854455 GRCh38 Chromosome 7, 74045278: 74045278
16 ELN ELN, ARG610GLN AND 24-BP DUP, NT1034 duplication Pathogenic
17 ELN ELN, IVS28, G-C, +5 single nucleotide variant Pathogenic
18 HRAS NM_176795.4(HRAS): c.277A> G (p.Ile93Val) single nucleotide variant Uncertain significance rs587782949 GRCh37 Chromosome 11, 533779: 533779
19 HRAS NM_176795.4(HRAS): c.277A> G (p.Ile93Val) single nucleotide variant Uncertain significance rs587782949 GRCh38 Chromosome 11, 533779: 533779
20 ELN NM_000501.3(ELN): c.1264G> A (p.Gly422Ser) single nucleotide variant Benign rs2071307 GRCh37 Chromosome 7, 73470714: 73470714
21 ELN NM_000501.3(ELN): c.1264G> A (p.Gly422Ser) single nucleotide variant Benign rs2071307 GRCh38 Chromosome 7, 74056384: 74056384
22 ELN NM_000501.3(ELN): c.1269C> G (p.Val423=) single nucleotide variant Likely benign rs61734583 GRCh37 Chromosome 7, 73470719: 73470719
23 ELN NM_000501.3(ELN): c.1269C> G (p.Val423=) single nucleotide variant Likely benign rs61734583 GRCh38 Chromosome 7, 74056389: 74056389
24 ELN NM_000501.3(ELN): c.212C> T (p.Ala71Val) single nucleotide variant Benign/Likely benign rs41350445 GRCh37 Chromosome 7, 73455561: 73455561
25 ELN NM_000501.3(ELN): c.212C> T (p.Ala71Val) single nucleotide variant Benign/Likely benign rs41350445 GRCh38 Chromosome 7, 74041231: 74041231
26 ELN NM_000501.3(ELN): c.2132G> A (p.Gly711Asp) single nucleotide variant Likely benign rs41511151 GRCh37 Chromosome 7, 73482987: 73482987
27 ELN NM_000501.3(ELN): c.2132G> A (p.Gly711Asp) single nucleotide variant Likely benign rs41511151 GRCh38 Chromosome 7, 74068657: 74068657
28 ELN NM_000501.3(ELN): c.800-3C> G single nucleotide variant Pathogenic rs397516433 GRCh37 Chromosome 7, 73466077: 73466077
29 ELN NM_000501.3(ELN): c.800-3C> G single nucleotide variant Pathogenic rs397516433 GRCh38 Chromosome 7, 74051747: 74051747
30 ELN NM_000501.3(ELN): c.427+8C> T single nucleotide variant Benign/Likely benign rs55868272 GRCh37 Chromosome 7, 73457506: 73457506
31 ELN NM_000501.3(ELN): c.427+8C> T single nucleotide variant Benign/Likely benign rs55868272 GRCh38 Chromosome 7, 74043176: 74043176
32 ELN NM_000501.3(ELN): c.1744delG (p.Ala582Glnfs) deletion Pathogenic rs727503783 GRCh37 Chromosome 7, 73474828: 73474828
33 ELN NM_000501.3(ELN): c.1744delG (p.Ala582Glnfs) deletion Pathogenic rs727503783 GRCh38 Chromosome 7, 74060498: 74060498
34 ELN NM_000501.3(ELN): c.1733delC (p.Pro578Leufs) deletion Likely pathogenic rs727503782 GRCh37 Chromosome 7, 73474817: 73474817
35 ELN NM_000501.3(ELN): c.1733delC (p.Pro578Leufs) deletion Likely pathogenic rs727503782 GRCh38 Chromosome 7, 74060487: 74060487
36 ELN NM_000501.3(ELN): c.1741G> C (p.Gly581Arg) single nucleotide variant Benign rs17855988 GRCh37 Chromosome 7, 73474825: 73474825
37 ELN NM_000501.3(ELN): c.1741G> C (p.Gly581Arg) single nucleotide variant Benign rs17855988 GRCh38 Chromosome 7, 74060495: 74060495
38 ELN NM_000501.2(ELN): c.43_44insC (p.Leu15Profs) duplication Pathogenic rs727503022 GRCh37 Chromosome 7, 73442560: 73442560
39 ELN NM_000501.2(ELN): c.43_44insC (p.Leu15Profs) duplication Pathogenic rs727503022 GRCh38 Chromosome 7, 74028230: 74028230
40 ELN NM_000501.3(ELN): c.131delC (p.Pro44Glnfs) deletion Pathogenic rs727503023 GRCh37 Chromosome 7, 73449742: 73449742
41 ELN NM_000501.3(ELN): c.131delC (p.Pro44Glnfs) deletion Pathogenic rs727503023 GRCh38 Chromosome 7, 74035412: 74035412
42 ELN NM_000501.3(ELN): c.435delG (p.Leu146Cysfs) deletion Pathogenic rs727503024 GRCh37 Chromosome 7, 73458216: 73458216
43 ELN NM_000501.3(ELN): c.435delG (p.Leu146Cysfs) deletion Pathogenic rs727503024 GRCh38 Chromosome 7, 74043886: 74043886
44 ELN NM_000501.3(ELN): c.741delG (p.Thr248Glnfs) deletion Likely pathogenic rs727503026 GRCh37 Chromosome 7, 73462527: 73462527
45 ELN NM_000501.3(ELN): c.741delG (p.Thr248Glnfs) deletion Likely pathogenic rs727503026 GRCh38 Chromosome 7, 74048197: 74048197
46 ELN NM_001278939.1(ELN): c.800-2A> G single nucleotide variant Pathogenic rs727503027 GRCh37 Chromosome 7, 73466078: 73466078
47 ELN NM_001278939.1(ELN): c.800-2A> G single nucleotide variant Pathogenic rs727503027 GRCh38 Chromosome 7, 74051748: 74051748
48 ELN NM_000501.3(ELN): c.862dupG (p.Ala288Glyfs) duplication Pathogenic rs727503028 GRCh37 Chromosome 7, 73466142: 73466142
49 ELN NM_000501.3(ELN): c.862dupG (p.Ala288Glyfs) duplication Pathogenic rs727503028 GRCh38 Chromosome 7, 74051812: 74051812
50 ELN NM_000501.3(ELN): c.1097-1G> A single nucleotide variant Pathogenic rs727503029 GRCh37 Chromosome 7, 73469045: 73469045

Copy number variations for Supravalvular Aortic Stenosis from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 227746 7 71800000 77400000 Microdeletion ELN Supravalvular aortic stenosis

Expression for Supravalvular Aortic Stenosis

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

Pathways for Supravalvular Aortic Stenosis

GO Terms for Supravalvular Aortic Stenosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.46 ELN FBLN5 FBN1 LAMB1
2 basement membrane GO:0005604 9.26 FBN1 LAMB1
3 elastic fiber GO:0071953 8.96 ELN FBLN5
4 collagen-containing extracellular matrix GO:0062023 8.92 ELN FBLN5 FBN1 LAMB1

Biological processes related to Supravalvular Aortic Stenosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.92 ELN FBLN5 FBN1 LAMB1

Molecular functions related to Supravalvular Aortic Stenosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.16 FBLN5 FBN1
2 extracellular matrix structural constituent GO:0005201 9.13 ELN FBN1 LAMB1
3 extracellular matrix constituent conferring elasticity GO:0030023 8.8 ELN FBLN5 FBN1

Sources for Supravalvular 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
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