MCID: SPR004
MIFTS: 53

Supravalvular Aortic Stenosis

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal 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
SNOMED-CT 68 204436002 268185002
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 aneurysm. An important gene associated with Supravalvular Aortic Stenosis is ELN (Elastin), and among its related pathways/superpathways are Integrin Pathway and Degradation of the extracellular matrix. The drugs Hydrocortisone and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and lung, and related phenotypes are supravalvular aortic stenosis and arrhythmia

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.

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.

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 80)
# Related Disease Score Top Affiliating Genes
1 williams-beuren syndrome 31.2 ELN GTF2I LIMK1 PDLIM1
2 aneurysm 30.0 ELN FBN1
3 cutis laxa 29.9 ELN FBLN5
4 intracranial aneurysm 29.8 ELN LIMK1
5 aortic aneurysm 29.1 ELN FBLN5 FBN1
6 aneurysm of sinus of valsalva 11.5
7 dystonia 3, torsion, x-linked 10.9
8 acquired cutis laxa 10.3 ELN FBLN5
9 hypercholesterolemia, familial 10.3
10 senile ectropion 10.3 ELN MMP2
11 cutis laxa, autosomal dominant 1 10.3 ELN FBLN5
12 peripheral pulmonary stenosis 10.3
13 homozygous familial hypercholesterolemia 10.2
14 pelvic organ prolapse 10.2 ELN FBLN5
15 chromosomal deletion syndrome 10.2 ELN GTF2I
16 myocardial infarction 10.1
17 varicose veins 10.1 ELN MMP2
18 albinism 10.1
19 vascular disease 10.1
20 coronary aneurysm 10.1
21 rubella 10.1
22 aortic coarctation 10.1
23 lymphangioleiomyomatosis 10.0 ELN MMP2
24 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.0 ELN FBN1
25 muscular dystrophy 10.0
26 late-onset focal dermal elastosis 10.0 ELN FBN1
27 familial abdominal aortic aneurysm 9.9 ELN FBN1
28 chronic actinic dermatitis 9.9 ELN FBN1
29 coarctation of aorta 9.9
30 fibromuscular dysplasia 9.9
31 takayasu arteritis 9.9
32 brittle bone disorder 9.9
33 angina pectoris 9.9
34 chronic granulomatous disease 9.9
35 sinusitis 9.9
36 atrioventricular block 9.9
37 first-degree atrioventricular block 9.9
38 thrombosis 9.9
39 endocarditis 9.9
40 heart disease 9.9
41 familial hyperlipidemia 9.9
42 dermatitis 9.9
43 long qt syndrome 9.9
44 cerebritis 9.9
45 coronary stenosis 9.9
46 aortitis 9.9
47 discrete subaortic stenosis 9.9
48 coronary artery aneurysm 9.9
49 idiopathic infantile hypercalcemia 9.9
50 dysphagia 9.9

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:
supravalvar aortic stenosis
pulmonary valvular stenosis
pulmonary artery 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 supravalvular aortic stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004381
2 arrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011675
3 pulmonic stenosis 32 HP:0001642
4 pulmonary artery stenosis 32 HP:0004415
5 peripheral arterial stenosis 32 HP:0004950

MGI Mouse Phenotypes related to Supravalvular Aortic Stenosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.92 FBLN5 FBN1 GTF2I MMP2

Drugs & Therapeutics for Supravalvular Aortic Stenosis

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

(show top 50) (show all 102)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
2
Ethanol Approved Phase 4,Not Applicable 64-17-5 702
3
Polidocanol Approved Phase 4 9002-92-0
4
Kinetin Approved Phase 4 525-79-1 3830
5
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
6
Tocopherol Approved, Investigational, Nutraceutical Phase 4 1406-66-2 14986
7
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
8
Butyric Acid Experimental, Investigational Phase 4 107-92-6 264
9 Mitogens Phase 4
10 Cortisol succinate Phase 4
11 Tocopherols Phase 4
12 Tocotrienols Phase 4
13 Hormone Antagonists Phase 4,Not Applicable
14 Hormones Phase 4,Not Applicable
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Not Applicable
16 Hydrocortisone 17-butyrate 21-propionate Phase 4
17 Hydrocortisone acetate Phase 4
18 Hydrocortisone-17-butyrate Phase 4
19 Estrogens Phase 4,Not Applicable
20 Estrogens, Conjugated (USP) Phase 4,Not Applicable
21 Anti-Inflammatory Agents Phase 4
22 Carbopol 940 Phase 4
23 Aloe Nutraceutical Phase 4
24 Citrate Nutraceutical Phase 4
25 Tocotrienol Investigational, Nutraceutical Phase 4 6829-55-6
26 Soy Bean Nutraceutical Phase 4
27 Phytosterol Nutraceutical Phase 4
28
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
29
Candesartan cilexetil Approved Phase 3 145040-37-5 2540
30
Glycerol Approved, Investigational Phase 3 56-81-5 753
31
Candesartan Experimental Phase 3 139481-59-7 2541
32 Angiotensin II Type 1 Receptor Blockers Phase 3
33 Angiotensin Receptor Antagonists Phase 3
34 Angiotensinogen Phase 3
35 Antihypertensive Agents Phase 3,Phase 2
36 acivicin Phase 3
37 Hemostatics Phase 3
38
Hyaluronic acid Approved, Vet_approved Phase 2,Phase 1,Not Applicable 9004-61-9 53477741
39
Minoxidil Approved, Investigational Phase 2 38304-91-5 4201
40
Protein C Approved Phase 2
41
Serine Approved, Nutraceutical Phase 2 56-45-1 5951
42 Adjuvants, Immunologic Phase 2,Phase 1,Not Applicable
43 Viscosupplements Phase 2,Phase 1,Not Applicable
44 Pharmaceutical Solutions Phase 2
45 Protective Agents Phase 2,Phase 1,Not Applicable
46
protease inhibitors Phase 2
47 Serine Proteinase Inhibitors Phase 2
48 Alpha 1-Antitrypsin Phase 2
49 HIV Protease Inhibitors Phase 2
50 Trypsin Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 59)
# 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 A Comparison of OASIS Wound Matrix With Approved Dressings for Skin Graft Donor Sites Withdrawn NCT02994589 Phase 4
6 The Potential of Candesartan to Retard the Progression of Aortic Stenosis Unknown status NCT00699452 Phase 3 candesartan;placebo
7 Application of Cultured Autologous Keratinocytes for Burn Wound Healing Completed NCT00832156 Phase 3
8 Dermal Substitute and Topical Negative Pressure in Burns Completed NCT00548314 Phase 3
9 Efficacy of Collagen-elastin Dermal Substitute in the Treatment of Loss of Cutaneous Substances With Skin Grafts Recruiting NCT02090361 Phase 3
10 Glyaderm Clinical Evaluation Multicenter Study Terminated NCT01616043 Phase 3
11 Ligasure II: Standard Stapling Versus Ligasure Terminated NCT01349426 Phase 3
12 Safety Study of CTX-100 Inhalation Solution (Formerly ETX-100) Unknown status NCT00993707 Phase 2 CTX-100 (formerly ETX-100) (hyaluronic acid)
13 Efficacy of Minoxidil in Children With Williams-Beuren Syndrome Completed NCT00876200 Phase 2 Minoxidil;Placebo
14 Split-face Comparison Study to Assess ELAPR Compared to Juvéderm® for the Treatment of Nasolabial Folds Completed NCT01463657 Phase 1, Phase 2
15 Effect of Double Dose of Alpha 1-antitrypsin Augmentation Therapy on Lung Inflammation. Completed NCT01669421 Phase 2 Alpha-1 Antitrypsin (human)
16 Safety Study of Bone Marrow Derived Stem Cells on Patients With Cutaneous Photoaging Suspended NCT01771679 Phase 1, Phase 2
17 Safety Study of Three Formulations of the Dermal Implant ELAPR Completed NCT01467778 Phase 1
18 Two Formulations of ELAPR Compared to Restylane® Vital Light Following Repeat Implants in the Upper Arm Dermis Completed NCT01466413 Phase 1
19 A Study to Evaluate the Efficacy of ELAPR in Women With Striae Distensae Alba Completed NCT02510768 Phase 1
20 Using Autologous Platelet Rich Plasma (PRP) Gel to Treat Deep 2nd and 3rd Degree Burns Active, not recruiting NCT01843686 Phase 1
21 Potential Biomarkers for Early Diagnosis of Acute Aortic Dissection Unknown status NCT01860768
22 EnSeal Efficacy and Bursting Pressure in Human Vessels Unknown status NCT01312246 Not Applicable
23 Pre-operative Diet: Effect of Wound Healing After Bariatric Surgery Unknown status NCT01950052 Not Applicable
24 Evaluating Genetic Factors That May Contribute to Elastin Function and the Development of Chronic Obstructive Pulmonary Disease Completed NCT00725309
25 Ancillary T Cell Based Studies in SPIROMICS Completed NCT02036190
26 Alterations in Connective Tissue in Patients With or Without Pelvic Organ Prolapse Completed NCT01749696
27 The Effects of Microdermabrasion on Skin Remodeling Completed NCT00111254 Not Applicable
28 Vitamin D Metabolism and the Williams Syndrome Completed NCT00013962 Vitamin D
29 Assessing the Effects of Tretinoin Cream on Human Skin With Optical Imaging Technologies Completed NCT02410980 Early Phase 1 Tretinoin cream 0.1%
30 Mechanisms of Skin Repair by Topical Estrogen Completed NCT00113100 Not Applicable Topical 17-beta estradiol in ethanol/propylene glycol (ETOH/PG)
31 WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study) Completed NCT02692846
32 Evaluation of Safety and Efficacy of Micro-coring Device for Treatment of Facial Wrinkles and Skin Laxity Completed NCT03228641 Not Applicable
33 Biomarkers of Injury and Destruction in the Cystic Fibrosis Lung Completed NCT01805713
34 Study of the Pathobiology of Bronchopulmonary Dysplasia in Newborns Completed NCT00006058
35 Influence of of Cream With the Silver Fir Wood Extract (Belinal) on Skin Completed NCT02603029 Not Applicable
36 Investigation of the Pain Relieving Properties of Lipotransplantation After Treatment for Breast Cancer Completed NCT01888419 Not Applicable
37 Identification of Genetic Markers for Cardiopulmonary Diseases (Genotype) Completed NCT00616369
38 A Study Using Fractional Carbon Dioxide and Long Pulsed Neodymium-yttrium Aluminum Garnet Lasers in Treatment of Keloids Completed NCT03460431 Not Applicable
39 Histological Study to Evaluate Skin Changes After PicoWay® 1064 nm and 532nm Picosecond Fractional Laser Treatment Completed NCT02700204 Not Applicable
40 Assessment of the Impact of a Coenzyme Q10 Supplementation on the Skin Completed NCT02604641 Not Applicable
41 Evaluation of Fractional Bipolar Radiofrequency for the Treatment of Striae Completed NCT01788748 Not Applicable
42 Caesarean Scar Revision With the UltraPulse Completed NCT02050126 Not Applicable
43 Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank Recruiting NCT02706639
44 Impact of Elastin Mediated Vascular Stiffness on End Organs Recruiting NCT02840448
45 The Effects of Discontinuation of Vitamin K Antagonists on the Rate of Elastin Degradation Recruiting NCT03285100
46 Fragmentation of Elastin as a Biological Marker of Frailty and Impact in Tumor Progression in Elderly Patients With Cancer Recruiting NCT02807129 Not Applicable
47 Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic Imaging Recruiting NCT02538822 Not Applicable
48 Influence of Statins in Artery Aneurysms Recruiting NCT03061487
49 Hormonal Status on Blood Flow and Tissue in Pelvic Organ Prolapse Recruiting NCT01886794 Not Applicable Topical Vaginal Estrogen Cream/placebo
50 Radio Frequency Microneedling for Suprapatellar Skin Recruiting NCT03507036 Not Applicable

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, Skin, Lung, Bone, T Cells, Liver, Testes

Publications for Supravalvular Aortic Stenosis

Articles related to Supravalvular Aortic Stenosis:

(show top 50) (show all 293)
# Title Authors Year
1
Brom Aortoplasty for Supravalvular Aortic Stenosis. ( 29544418 )
2018
2
Supravalvular aortic stenosis with a chronic type A aortic dissection. ( 29569749 )
2018
3
Two Cases of Surgical Management of Supravalvular Aortic Stenosis in Familial Hypercholesterolemia. ( 29571349 )
2018
4
Isolated supravalvular aortic stenosis with left ventricular diverticulum and cleft mitral valve: Surgical repair in adulthood. ( 28983175 )
2017
5
Aspergillus Infection in an Immunocompetent Host With Supravalvular Aortic Stenosis. ( 29130815 )
2017
6
Early and late outcomes after surgical repair of congenital supravalvular aortic stenosis: a European Congenital Heart Surgeons Association multicentric study. ( 29156017 )
2017
7
Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm. ( 27866049 )
2017
8
What's the Skinny on Elastin Deficiency and Supravalvular Aortic Stenosis? ( 28446468 )
2017
9
Isolated Diffuse Supravalvular Aortic Stenosis with Severe Aortic Narrowing in a 41-Year-Old Man. ( 28878586 )
2017
10
High-pressure balloon dilation in a dog with supravalvular aortic stenosis. ( 27806903 )
2017
11
Diminutive Porcelain Ascending Aorta with Supravalvular Aortic Stenosis. ( 29274695 )
2017
12
Non ST-Elevation Myocardial Infarction in a Patient with Supravalvular Aortic Stenosis. Role of Multi-Modality Imaging. ( 28821896 )
2017
13
Evaluation of the congenital supravalvular aortic stenosis by different imaging modalities. ( 28681443 )
2017
14
Importance of SERCA2a on early isolated diastolic dysfunction induced by supravalvular aortic stenosis in rats. ( 28423119 )
2017
15
Surgical strategies and outcomes of congenital supravalvular aortic stenosis. ( 28967205 )
2017
16
Successful delivery in a patient with isolated supravalvular aortic stenosis. ( 27919165 )
2017
17
Novel three-sinus enlargement technique for supravalvular aortic stenosis without aortic transection. ( 26772811 )
2016
18
Disseminated Peripheral Mycotic Aneurysms and Septic Embolizations Related to an Infected Stent Deployed for Restenosis of Surgically Repaired Supravalvular Aortic Stenosis. ( 26715003 )
2016
19
Bovine aortic arch with supravalvular aortic stenosis. ( 27751339 )
2016
20
Iatrogenic Supravalvular Aortic Stenosis. ( 28516093 )
2016
21
Integrin I^3 inhibition is a therapeutic strategy for supravalvular aortic stenosis. ( 26858344 )
2016
22
Recurrent pulseless electrical activity in a patient with coronary vasospasm and supravalvular aortic stenosis: a case report. ( 27216437 )
2016
23
Iatrogenic supravalvular aortic stenosis detected by transesophageal echocardiography in a pediatric patient undergoing cardiac surgery. ( 25625252 )
2015
24
Supravalvular aortic stenosis associated to infectious endocarditis and cerebral vascular disease in a patient with Williams-Beuren Syndrome. ( 25882107 )
2015
25
Surgical repair of supravalvular aortic stenosis in children with williams syndrome: a 30-year experience. ( 25661907 )
2015
26
Cleft Anterior Mitral Leaflet with Supravalvular Aortic Stenosis a Rare Association. ( 26900420 )
2015
27
De novo obstruction after supravalvular aortic stenosis repair in Williams-Beuren syndrome. ( 25952214 )
2015
28
Idiopathic ascending aortitis as a rare cause of supravalvular aortic stenosis. ( 25861594 )
2015
29
Left coronary artery stenosis causing left ventricular dysfunction in two children with supravalvular aortic stenosis. ( 25870356 )
2015
30
Late sequela of aortotomy in infancy: supravalvular aortic stenosis and aneurysmal changes of epiaortic branches. ( 24819359 )
2014
31
Supravalvular aortic stenosis as a non-syndromic familial disease. Relevance of familial screening. ( 24491872 )
2014
32
Myers' 3-sinus reconstruction for supravalvular aortic stenosis involving left coronary ostium: report of a case. ( 25366351 )
2014
33
Surgical treatment of valvular and supravalvular aortic stenosis in homozygous familial hypercholesterolemia. ( 24505024 )
2014
34
Supravalvular aortic stenosis in adult with anomalies of aortic arch vessels and aortic regurgitation. ( 24598962 )
2013
35
Takayasu arteritis combined with congenital supravalvular aortic stenosis. ( 23886030 )
2013
36
Outcome of Surgical Correction of Congenital Supravalvular Aortic Stenosis With Two- and Three-Sinus Reconstruction Techniques. ( 24266950 )
2013
37
Mid-term outcome after surgical repair of congenital supravalvular aortic stenosis by extended aortoplasty. ( 23793710 )
2013
38
Bentall procedure for an adult patient with supravalvular aortic stenosis and coronary aneurysms. ( 23879341 )
2013
39
A calcified sinutubular junction: the discovery of a supravalvular aortic stenosis in an elderly woman. ( 23640577 )
2013
40
Supravalvular aortic stenosis in homozygous familial hypercholesterolemia. ( 24100183 )
2013
41
Modeling supravalvular aortic stenosis syndrome with human induced pluripotent stem cells. ( 22914687 )
2012
42
Pulmonary stenosis is a predictor of unfavorable outcome after surgery for supravalvular aortic stenosis. ( 22438017 )
2012
43
Homozygous familial hypercholestrolaemia presents with supravalvular aortic stenosis. ( 22755353 )
2012
44
Dynamic geometry of the left ventricular outflow tract of pigs with induced supravalvular aortic stenosis. ( 22764147 )
2012
45
The clinical and genetic distinction between familial supravalvular aortic stenosis (Eisenberg syndrome) and Williams-Beuren syndrome. ( 22843229 )
2012
46
Modified aortoplasty for discrete congenital supravalvular aortic stenosis. ( 22244559 )
2012
47
Atypical deletion in Williams-Beuren syndrome critical region detected by MLPA in a patient with supravalvular aortic stenosis and learning difficulty. ( 23089367 )
2012
48
Supravalvular aortic stenosis: elastin arteriopathy. ( 23250899 )
2012
49
Engineered zinc-finger proteins can compensate genetic haploinsufficiency by transcriptional activation of the wild-type allele: application to Willams-Beuren syndrome and supravalvular aortic stenosis. ( 22891920 )
2012
50
Supravalvular aortic stenosis in William's syndrome. ( 21976893 )
2011

Variations for Supravalvular Aortic Stenosis

ClinVar genetic disease variations for Supravalvular Aortic Stenosis:

6
(show top 50) (show all 265)
# Gene Variation Type Significance SNP ID Assembly Location
1 ELN ELN, 30-KB DEL deletion Pathogenic
2 ELN ELN, 100-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 ELN NM_000501.3(ELN): c.800-3C> G single nucleotide variant Pathogenic rs397516433 GRCh37 Chromosome 7, 73466077: 73466077
19 ELN NM_000501.3(ELN): c.800-3C> G single nucleotide variant Pathogenic rs397516433 GRCh38 Chromosome 7, 74051747: 74051747
20 ELN NM_000501.3(ELN): c.1744delG (p.Ala582Glnfs) deletion Pathogenic rs727503783 GRCh37 Chromosome 7, 73474828: 73474828
21 ELN NM_000501.3(ELN): c.1744delG (p.Ala582Glnfs) deletion Pathogenic rs727503783 GRCh38 Chromosome 7, 74060498: 74060498
22 ELN NM_000501.3(ELN): c.1733delC (p.Pro578Leufs) deletion Likely pathogenic rs727503782 GRCh37 Chromosome 7, 73474817: 73474817
23 ELN NM_000501.3(ELN): c.1733delC (p.Pro578Leufs) deletion Likely pathogenic rs727503782 GRCh38 Chromosome 7, 74060487: 74060487
24 ELN NM_000501.3(ELN): c.1741G> C (p.Gly581Arg) single nucleotide variant Benign rs17855988 GRCh37 Chromosome 7, 73474825: 73474825
25 ELN NM_000501.3(ELN): c.1741G> C (p.Gly581Arg) single nucleotide variant Benign rs17855988 GRCh38 Chromosome 7, 74060495: 74060495
26 ELN NM_000501.2(ELN): c.43_44insC (p.Leu15Profs) duplication Pathogenic rs727503022 GRCh37 Chromosome 7, 73442560: 73442560
27 ELN NM_000501.2(ELN): c.43_44insC (p.Leu15Profs) duplication Pathogenic rs727503022 GRCh38 Chromosome 7, 74028230: 74028230
28 ELN NM_000501.3(ELN): c.131delC (p.Pro44Glnfs) deletion Pathogenic rs727503023 GRCh37 Chromosome 7, 73449742: 73449742
29 ELN NM_000501.3(ELN): c.131delC (p.Pro44Glnfs) deletion Pathogenic rs727503023 GRCh38 Chromosome 7, 74035412: 74035412
30 ELN NM_000501.3(ELN): c.435delG (p.Leu146Cysfs) deletion Pathogenic rs727503024 GRCh37 Chromosome 7, 73458216: 73458216
31 ELN NM_000501.3(ELN): c.435delG (p.Leu146Cysfs) deletion Pathogenic rs727503024 GRCh38 Chromosome 7, 74043886: 74043886
32 ELN NM_000501.3(ELN): c.741delG (p.Thr248Glnfs) deletion Likely pathogenic rs727503026 GRCh37 Chromosome 7, 73462527: 73462527
33 ELN NM_000501.3(ELN): c.741delG (p.Thr248Glnfs) deletion Likely pathogenic rs727503026 GRCh38 Chromosome 7, 74048197: 74048197
34 ELN NM_001278939.1(ELN): c.800-2A> G single nucleotide variant Pathogenic rs727503027 GRCh37 Chromosome 7, 73466078: 73466078
35 ELN NM_001278939.1(ELN): c.800-2A> G single nucleotide variant Pathogenic rs727503027 GRCh38 Chromosome 7, 74051748: 74051748
36 ELN NM_000501.3(ELN): c.862dupG (p.Ala288Glyfs) duplication Pathogenic rs727503028 GRCh37 Chromosome 7, 73466142: 73466142
37 ELN NM_000501.3(ELN): c.862dupG (p.Ala288Glyfs) duplication Pathogenic rs727503028 GRCh38 Chromosome 7, 74051812: 74051812
38 ELN NM_000501.3(ELN): c.1097-1G> A single nucleotide variant Pathogenic rs727503029 GRCh37 Chromosome 7, 73469045: 73469045
39 ELN NM_000501.3(ELN): c.1097-1G> A single nucleotide variant Pathogenic rs727503029 GRCh38 Chromosome 7, 74054715: 74054715
40 ELN NM_000501.3(ELN): c.1150+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503030 GRCh37 Chromosome 7, 73469100: 73469100
41 ELN NM_000501.3(ELN): c.1150+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503030 GRCh38 Chromosome 7, 74054770: 74054770
42 ELN NM_000501.3(ELN): c.1153delG (p.Ala385Profs) deletion Likely pathogenic rs727503031 GRCh37 Chromosome 7, 73470603: 73470603
43 ELN NM_000501.3(ELN): c.1153delG (p.Ala385Profs) deletion Likely pathogenic rs727503031 GRCh38 Chromosome 7, 74056273: 74056273
44 ELN NM_000501.3(ELN): c.1785T> A (p.Tyr595Ter) single nucleotide variant Pathogenic rs727503033 GRCh37 Chromosome 7, 73475468: 73475468
45 ELN NM_000501.3(ELN): c.1785T> A (p.Tyr595Ter) single nucleotide variant Pathogenic rs727503033 GRCh38 Chromosome 7, 74061138: 74061138
46 ELN NM_000501.3(ELN): c.1858G> T (p.Gly620Ter) single nucleotide variant Likely pathogenic rs727503034 GRCh37 Chromosome 7, 73477554: 73477554
47 ELN NM_000501.3(ELN): c.1858G> T (p.Gly620Ter) single nucleotide variant Likely pathogenic rs727503034 GRCh38 Chromosome 7, 74063224: 74063224
48 ELN NM_000501.3(ELN): c.1918+1G> A single nucleotide variant Pathogenic rs727503035 GRCh37 Chromosome 7, 73477700: 73477700
49 ELN NM_000501.3(ELN): c.1918+1G> A single nucleotide variant Pathogenic rs727503035 GRCh38 Chromosome 7, 74063370: 74063370
50 ELN NM_000501.3(ELN): c.889+2T> C single nucleotide variant Pathogenic rs727504419 GRCh37 Chromosome 7, 73466171: 73466171

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 ELN FBN1 LIMK1 MMP2
2
Show member pathways
11.91 ELN FBLN5 FBN1 MMP2
3 10.96 ELN MMP2
4
Show member pathways
10.66 ELN FBLN5 FBN1

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 elastic fiber GO:0071953 8.96 ELN FBLN5
2 extracellular matrix GO:0031012 8.92 ELN FBLN5 FBN1 MMP2

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 9.13 ELN FBLN5 FBN1
2 extracellular matrix disassembly GO:0022617 8.8 ELN FBN1 MMP2

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 8.96 FBLN5 FBN1
2 extracellular matrix structural constituent GO:0005201 8.62 ELN 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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