SVAS
MCID: SPR004
MIFTS: 58

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 56 12 52 25 58 73 15 37 71
Svas 56 52 25 58 73
Supravalvar Aortic Stenosis 56 29 13 6
Supravalvar Aortic Stenosis, Eisenberg Type 56 52
Aortic Stenosis, Supravalvular 25 43
Aortic Supravalvular Stenosis 74 52
Supra-Valvular Aortic Stenosis 12
Stenosis, Aortic Supravalvular 25
Stenosis, Supravalvular Aortic 25
Supravalvular Stenosis, Aortic 25
Aortic Stenosis Supravalvular 54
Aortic Stenosis, Supravalvar 39

Characteristics:

Orphanet epidemiological data:

58
supravalvular aortic stenosis
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-5/10000 (Europe); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
supravalvular aortic stenosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:1929
OMIM 56 185500
MeSH 43 D021921
NCIt 49 C85176
SNOMED-CT 67 268185002
ICD10 32 Q25.3
MESH via Orphanet 44 D021921
ICD10 via Orphanet 33 Q25.3
UMLS via Orphanet 72 C0003499 C1305147
Orphanet 58 ORPHA3193
UMLS 71 C0003499

Summaries for Supravalvular Aortic Stenosis

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. The severity of SVAS varies considerably, even among family members. Some affected individuals die in infancy, while others never experience symptoms of the disorder.

MalaCards based summary : Supravalvular Aortic Stenosis, also known as svas, is related to mitral valve insufficiency and aortic valve insufficiency. 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 Minoxidil and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and brain, 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.

NIH Rare Diseases : 52 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.

UniProtKB/Swiss-Prot : 73 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 : 74 Aortic stenosis (AS or AoS) is the narrowing of the exit of the left ventricle of the heart (where the... more...

More information 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 205)
# Related Disease Score Top Affiliating Genes
1 mitral valve insufficiency 31.1 PDLIM1 FBN1 ELN
2 aortic valve insufficiency 30.9 FBN1 ELN EFEMP2
3 aortic dissection 30.9 LDLR FBN1 ELN
4 fbln5-related cutis laxa 30.8 FBLN5 ELN
5 aortic valve disease 2 30.7 PDLIM1 GTF2IRD1 FBN1 ELN
6 intracranial aneurysm 30.7 MMP2 LIMK1 ELN
7 orthostatic intolerance 30.6 PDLIM1 FBN1 ELN
8 cardiac conduction defect 30.6 SCN5A KCNH2
9 atrial heart septal defect 30.3 SCN5A FBN1 ELN
10 aortic disease 30.2 MMP9 MMP2 FBN1 ELN
11 tetralogy of fallot 30.1 SCN5A MMP9 KCNH2 FBN1 ELN
12 aortic valve disease 1 30.1 MMP9 MMP2 FBN1 ELN EFEMP2
13 inguinal hernia 29.9 MMP9 MMP2 FBN1 FBLN5 ELN
14 arteriosclerosis 29.9 MMP9 LDLR FBN1 ELN
15 aortic aneurysm 29.7 MMP9 MMP2 FBN1 FBLN5 ELN EFEMP2
16 myocardial infarction 29.4 SCN5A MMP9 MMP7 MMP2 LDLR ELN
17 williams-beuren syndrome 29.3 TRIM50 PDLIM1 MMP9 MMP7 MMP2 LIMK1
18 aortic aneurysm, familial thoracic 1 29.2 MMP9 MMP2 FBN1 FBLN5 ELN EFEMP2
19 heart disease 29.2 SCN5A PDLIM1 MMP9 LDLR KCNH2 FBN1
20 cutis laxa 29.1 MMP9 MMP2 LAMB1 FBN1 FBLN5 ELN
21 aneurysm of sinus of valsalva 11.9
22 dystonia 3, torsion, x-linked 11.6
23 aneurysm 10.6
24 hypercholesterolemia, familial, 1 10.6
25 peripheral pulmonary stenosis 10.6
26 cardiac arrest 10.6
27 familial hypercholesterolemia 10.6
28 vascular disease 10.6
29 endocarditis 10.5
30 coronary stenosis 10.5
31 homozygous familial hypercholesterolemia 10.5
32 extracranial arteriovenous malformation 10.5 MMP9 MMP2
33 cerebral aneurysms 10.4 MMP2 ELN
34 lentigo maligna melanoma 10.4 MMP9 MMP2
35 acquired cutis laxa 10.4 FBLN5 ELN
36 acute transverse myelitis 10.4 MMP9 MMP2
37 subvalvular aortic stenosis 10.4
38 transverse myelitis 10.4 MMP9 MMP2
39 late-onset focal dermal elastosis 10.4 FBN1 ELN
40 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.4 FBN1 ELN
41 nasal cavity squamous cell carcinoma 10.4 MMP9 MMP2
42 familial long qt syndrome 10.4 SCN5A KCNH2
43 long qt syndrome 14 10.4 SCN5A KCNH2
44 coarctation of aorta 10.4
45 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.4
46 familial abdominal aortic aneurysm 10.4 FBN1 ELN
47 long qt syndrome 13 10.4 SCN5A KCNH2
48 odontogenic myxoma 10.4 MMP9 MMP2
49 pediatric multiple sclerosis 10.4 MMP9 MMP7
50 long qt syndrome 12 10.4 SCN5A KCNH2

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



Diseases related to Supravalvular Aortic Stenosis

Symptoms & Phenotypes for Supravalvular Aortic Stenosis

Human phenotypes related to Supravalvular Aortic Stenosis:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arrhythmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011675
2 supravalvular aortic stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004381
3 pulmonic stenosis 31 HP:0001642
4 pulmonary artery stenosis 31 HP:0004415
5 peripheral arterial stenosis 31 HP:0004950

Symptoms via clinical synopsis from OMIM:

56
Cardiac:
pulmonary artery stenosis
supravalvar aortic stenosis
pulmonary valvular stenosis

Vascular:
peripheral arterial stenosis

Clinical features from OMIM:

185500

MGI Mouse Phenotypes related to Supravalvular Aortic Stenosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.18 BAZ1B EFEMP2 FBLN5 FBN1 GTF2I GTF2IRD1
2 cellular MP:0005384 10.11 BAZ1B CLIP2 EFEMP2 FBLN5 FBN1 GTF2I
3 growth/size/body region MP:0005378 10.03 BAZ1B CLIP2 FBLN5 FBN1 GTF2I GTF2IRD1
4 muscle MP:0005369 9.9 BAZ1B EFEMP2 FBLN5 FBN1 GTF2IRD1 KCNH2
5 craniofacial MP:0005382 9.87 BAZ1B FBLN5 FBN1 GTF2I GTF2IRD1 KCNH2
6 no phenotypic analysis MP:0003012 9.5 FBN1 FKBP6 GTF2I GTF2IRD1 LDLR LIMK1
7 respiratory system MP:0005388 9.17 EFEMP2 FBLN5 FBN1 GTF2IRD1 MMP2 MMP9

Drugs & Therapeutics for Supravalvular Aortic Stenosis

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Minoxidil Approved, Investigational Phase 2 38304-91-5 4201
2 Antihypertensive Agents Phase 2
3 Vasodilator Agents Phase 2
4
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
5 Trace Elements
6 Vitamins
7 Nutrients
8 Micronutrients
9 Calciferol

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Efficacy of Minoxidil in Children With Williams-Beuren Syndrome: a Randomized Clinical Trial. Completed NCT00876200 Phase 2 Minoxidil;Placebo
2 Vitamin D Metabolism and the Williams Syndrome Completed NCT00013962 Vitamin D
3 Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank Recruiting NCT02706639
4 Impact of Elastin Mediated Vascular Stiffness on End Organs Recruiting NCT02840448
5 BioHoFH - Biomarker for Homozygous Familial Hypercholesterolemia AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT03198897
6 The Effect of a Therapy Dog Activity on Employees' Stress, Mood, and Job Satisfaction and Commitment Withdrawn NCT03849144

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:

40
Heart, Lung, Brain, Smooth Muscle, Kidney, Skin, Cerebellum

Publications for Supravalvular Aortic Stenosis

Articles related to Supravalvular Aortic Stenosis:

(show top 50) (show all 864)
# Title Authors PMID Year
1
Elastin: mutational spectrum in supravalvular aortic stenosis. 54 56 6 61
11175284 2000
2
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. 6 56 61 54
9215670 1997
3
Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. 61 54 56 6
9215671 1997
4
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. 56 6 61
19844261 2010
5
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. 6 56 61
8541862 1995
6
Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. 61 56 6
8132745 1994
7
Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene. 61 6 56
8362925 1993
8
Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7. 61 6 56
8364568 1993
9
Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene. 6 54 61
11735026 2001
10
A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7. 56 61 54
8475063 1993
11
De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome. 61 56
10710222 2000
12
A new mutation in the elastin gene causing supravalvular aortic stenosis. 61 6
10190538 1999
13
Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. 6 61
10190324 1999
14
Confirmation of linkage of supravalvular aortic stenosis to the elastin gene on chromosome 7q. 61 56
7977109 1994
15
The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. 61 56
8096434 1993
16
Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: a form of arterial dysplasia. 56 61
8456853 1993
17
Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis. 61 56
1552547 1992
18
Autosomal dominant supravalvular aortic stenosis: large three-generation family. 61 56
2658589 1989
19
Spectrum of findings in a family with nonsyndromic autosomal dominant supravalvular aortic stenosis: a Doppler echocardiographic study. 61 56
2913119 1989
20
Familial supravalvular aortic stenosis: a genetic study. 61 56
2918546 1989
21
Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis. 56 61
3164411 1988
22
Supravalvular aortic stenosis. Clinical and pathologic observations in six patients. 56 61
3838444 1985
23
Familial supravalvular aortic stenosis. Report of a large family and review of the literature. 56 61
975952 1976
24
Supravalvular aortic stenosis. Report of a family with peculiar somatic features and normal intelligence. 61 56
5780776 1969
25
Supravalvular aortic stenosis. Unusual observations in three patients. 56 61
5773126 1969
26
Familial supravalvular aortic stenosis. 56 61
5748503 1968
27
Pathogenesis of the supravalvular aortic stenosis syndrome. 61 56
6039813 1967
28
FAMILIAL SUPRAVALVULAR AORTIC STENOSIS. 56 61
14186652 1964
29
Supravalvular aortic stenosis. 56 61
14007182 1961
30
Supravalvular aortic stenosis. Clinical experiences with four patients including familial occurrence. 61 56
14008275 1961
31
Systemic and pulmonary artery dysplasia associated with unexpected death in infancy. 56
5431207 1970
32
Familial arteriopathy with associated pulmonary and systemic arterial stenoses. 56
5401816 1969
33
FAMILIAL SUPRAVALVAR AORTIC STENOSIS. 56
14324113 1965
34
[Genetic studies in supravalvular aortic stenoses]. 56
5868428 1965
35
MATERNAL RUBELLA AND PULMONARY ARTERY STENOSES. REPORT OF ELEVEN CASES. 56
14044445 1963
36
Congenital, multiple peripheral stenoses of the pulmonary artery. 56
13408018 1957
37
Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism. 54 61
20007321 2010
38
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. 61 54
19568270 2010
39
An investigation of voice quality in individuals with inherited elastin gene abnormalities. 61 54
18307085 2008
40
Functional rescue of elastin insufficiency in mice by the human elastin gene: implications for mouse models of human disease. 54 61
17626896 2007
41
Elastic fibres in health and disease. 54 61
16893474 2006
42
Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis. 54 61
16820942 2006
43
Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis. 61 54
16930010 2006
44
Multi-species sequence comparison reveals dynamic evolution of the elastin gene that has involved purifying selection and lineage-specific insertions/deletions. 61 54
15149554 2004
45
TFII-I, a candidate gene for Williams syndrome cognitive profile: parallels between regional expression in mouse brain and human phenotype. 61 54
14751286 2004
46
Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. 61 54
11978965 2001
47
[Role of elastin in the development of vascular function. Knock-out study of the elastin gene in mice]. 54 61
11723827 2001
48
Surgery for bilateral outflow tract obstruction in elastin arteriopathy. 61 54
11003759 2000
49
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay. 61 54
10942104 2000
50
Williams syndrome: from genotype through to the cognitive phenotype. 54 61
11180224 2000

Variations for Supravalvular Aortic Stenosis

ClinVar genetic disease variations for Supravalvular Aortic Stenosis:

6 (show top 50) (show all 224) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ELN NC_000007.13:g.(?_73482987)_(73484237_?)deldeletion Pathogenic 417567 7:73482987-73484237
2 ELN NC_000007.13:g.(?_73442119)_(73484237_?)deldeletion Pathogenic 417566 7:73442119-73484237
3 ELN NM_000501.4(ELN):c.383del (p.Val128fs)deletion Pathogenic 453329 rs1554669800 7:73457454-73457454 7:74043124-74043124
4 ELN NM_000501.4(ELN):c.643+1_643+2delinsAGindel Pathogenic 453331 rs1554672602 7:73461098-73461099 7:74046768-74046769
5 ELN NM_000501.2(ELN):c.(?_-60)_(*57_?)deldeletion Pathogenic 505198 7:73442458-73483087
6 ELN NM_000501.4(ELN):c.634A>T (p.Lys212Ter)SNV Pathogenic 504955 rs1554672587 7:73461088-73461088 7:74046758-74046758
7 ELN NM_000501.4(ELN):c.171del (p.Pro58fs)deletion Pathogenic 505162 rs1554666513 7:73452041-73452041 7:74037711-74037711
8 ELN NM_000501.4(ELN):c.944A>G (p.Lys315Arg)SNV Pathogenic 524218 rs1554676454 7:73466308-73466308 7:74051978-74051978
9 ELN NC_000007.13:g.(?_73442498)_(73483050_?)deldeletion Pathogenic 524226 7:73442498-73483050
10 ELN NM_000501.4(ELN):c.1227del (p.Gly410fs)deletion Pathogenic 580650 rs1563836689 7:73470677-73470677 7:74056347-74056347
11 ELN NM_000501.4(ELN):c.1482del (p.Val495fs)deletion Pathogenic 642454 7:73474283-73474283 7:74059953-74059953
12 ELN NC_000007.14:g.(?_74035344)_(74068720_?)deldeletion Pathogenic 642647 7:73449674-73483050 7:74035344-74068720
13 ELN NM_000501.4(ELN):c.163+2T>CSNV Pathogenic 652801 7:73450916-73450916 7:74036586-74036586
14 ELN NM_000501.4(ELN):c.690T>A (p.Tyr230Ter)SNV Pathogenic 581885 rs1400530335 7:73462476-73462476 7:74048146-74048146
15 ELN NC_000007.14:g.(?_74028168)_(74028289_?)deldeletion Pathogenic 831651 7:73442498-73442619
16 ELN NC_000007.14:g.(?_74028178)_(74068710_?)deldeletion Pathogenic 832968 7:73442508-73483040
17 ELN NC_000007.14:g.(?_74068637)_(74068720_?)deldeletion Pathogenic 832918 7:73482967-73483050
18 ELN NM_000501.4(ELN):c.65_69dup (p.Ser24fs)duplication Pathogenic 852119 7:73442579-73442580 7:74028249-74028250
19 ELN NM_000501.4(ELN):c.391C>T (p.Gln131Ter)SNV Pathogenic 852728 7:73457462-73457462 7:74043132-74043132
20 ELN NM_000501.4(ELN):c.840_843dup (p.Val282fs)duplication Pathogenic 840776 7:73466119-73466120 7:74051789-74051790
21 ELN NM_000501.4(ELN):c.869del (p.Pro290fs)deletion Pathogenic 850874 7:73466148-73466148 7:74051818-74051818
22 ELN NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)SNV Pathogenic 835472 7:73469098-73469098 7:74054768-74054768
23 ELN NM_000501.4(ELN):c.1190dup (p.Tyr397Ter)duplication Pathogenic 849178 7:73470639-73470640 7:74056309-74056310
24 ELN NM_000501.4(ELN):c.1817del (p.Leu606fs)deletion Pathogenic 860361 7:73477513-73477513 7:74063183-74063183
25 ELN ELN, 100-KB DELdeletion Pathogenic 16719
26 ELN ELN, 30-KB DELdeletion Pathogenic 16720
27 ELN ELN, IVS15AS, A-G, -2SNV Pathogenic 16721
28 ELN NM_000501.4(ELN):c.1324C>T (p.Gln442Ter)SNV Pathogenic 16722 rs137854452 7:73471010-73471010 7:74056680-74056680
29 ELN NM_000501.4(ELN):c.1621C>T (p.Arg541Ter)SNV Pathogenic 16723 rs137854453 7:73474514-73474514 7:74060184-74060184
30 ELN ELN, 1-BP DEL, 1821Cdeletion Pathogenic 16724
31 ELN ELN, 1-BP INS, FS615TERinsertion Pathogenic 16725
32 ELN NM_000501.4(ELN):c.1040del (p.Pro347fs)deletion Pathogenic 16730 rs1563826213 7:73467581-73467581 7:74053251-74053251
33 ELN NM_000501.4(ELN):c.450C>G (p.Tyr150Ter)SNV Pathogenic 16731 rs137854454 7:73458231-73458231 7:74043901-74043901
34 ELN NM_000501.4(ELN):c.526A>T (p.Lys176Ter)SNV Pathogenic 16732 rs137854455 7:73459608-73459608 7:74045278-74045278
35 ELN ELN, ARG610GLN AND 24-BP DUP, NT1034duplication Pathogenic 16733
36 ELN NM_000501.4(ELN):c.1858+5G>CSNV Pathogenic 29690 rs1554686162 7:73477559-73477559 7:74063229-74063229
37 ELN NM_000501.4(ELN):c.800-3C>GSNV Pathogenic 43586 rs397516433 7:73466077-73466077 7:74051747-74051747
38 ELN NM_000501.4(ELN):c.1744del (p.Ala582fs)deletion Pathogenic 163395 rs727503783 7:73474825-73474825 7:74060495-74060495
39 ELN NM_000501.4(ELN):c.43dup (p.Leu15fs)duplication Pathogenic 163381 rs727503022 7:73442558-73442559 7:74028228-74028229
40 ELN NM_000501.4(ELN):c.131del (p.Pro44fs)deletion Pathogenic 163382 rs727503023 7:73449741-73449741 7:74035411-74035411
41 ELN NM_000501.4(ELN):c.435del (p.Leu146fs)deletion Pathogenic 163383 rs727503024 7:73458213-73458213 7:74043883-74043883
42 ELN NM_000501.4(ELN):c.800-2A>GSNV Pathogenic 163387 rs727503027 7:73466078-73466078 7:74051748-74051748
43 ELN NM_000501.4(ELN):c.862dup (p.Ala288fs)duplication Pathogenic 163388 rs727503028 7:73466138-73466139 7:74051808-74051809
44 ELN NM_000501.4(ELN):c.1097-1G>ASNV Pathogenic 163389 rs727503029 7:73469045-73469045 7:74054715-74054715
45 ELN NM_000501.4(ELN):c.1918+1G>ASNV Pathogenic 163398 rs727503035 7:73477700-73477700 7:74063370-74063370
46 ELN NM_000501.4(ELN):c.889+2T>CSNV Pathogenic 177951 rs727504419 7:73466171-73466171 7:74051841-74051841
47 ELN NM_000501.4(ELN):c.1208del (p.Gly403fs)deletion Pathogenic 177996 rs727504433 7:73470654-73470654 7:74056324-74056324
48 ELN NM_000501.4(ELN):c.890-2A>GSNV Pathogenic 177997 rs727504434 7:73466252-73466252 7:74051922-74051922
49 ELN NM_000501.4(ELN):c.608del (p.Pro203fs)deletion Pathogenic 178976 rs727504581 7:73461060-73461060 7:74046730-74046730
50 ELN NM_000501.4(ELN):c.1113dup (p.Ala372fs)duplication Pathogenic 179271 rs730880355 7:73469060-73469061 7:74054730-74054731

Copy number variations for Supravalvular Aortic Stenosis from CNVD:

7
# CNVD ID Chromosome 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:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 MMP9 MMP7 MMP2 LIMK1 LAMB1 FBN1
2
Show member pathways
11.88 MMP9 MMP7 MMP2 LAMB1 FBN1 FBLN5
3
Show member pathways
11.67 MMP9 MMP7 MMP2
4 11.58 MMP9 MMP7 MMP2
5 11.43 MMP9 MMP7 MMP2
6 11.38 MMP9 MMP2 ELN
7
Show member pathways
11.32 FBN1 FBLN5 ELN EFEMP2
8 11.09 MMP9 LAMB1 ELN
9 11.04 MMP9 MMP7 MMP2 LAMB1
10 10.94 MMP9 MMP2 LDLR
11 10.78 LIMK1 LAMB1 FBN1 ELN EFEMP2
12 10.74 MMP9 MMP7

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 basement membrane GO:0005604 9.43 LAMB1 FBN1 EFEMP2
2 extracellular matrix GO:0031012 9.43 MMP9 MMP7 MMP2 FBN1 FBLN5 ELN
3 collagen-containing extracellular matrix GO:0062023 9.17 MMP9 MMP2 LAMB1 FBN1 FBLN5 ELN
4 elastic fiber GO:0071953 9.16 FBLN5 ELN

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

# Name GO ID Score Top Affiliating Genes
1 ventricular cardiac muscle cell action potential GO:0086005 9.46 SCN5A KCNH2
2 stress fiber assembly GO:0043149 9.43 PDLIM1 ELN
3 extracellular matrix disassembly GO:0022617 9.43 MMP9 MMP7 MMP2
4 membrane depolarization during action potential GO:0086010 9.4 SCN5A KCNH2
5 response to amyloid-beta GO:1904645 9.37 MMP9 MMP2
6 collagen catabolic process GO:0030574 9.33 MMP9 MMP7 MMP2
7 elastic fiber assembly GO:0048251 9.32 FBLN5 EFEMP2
8 extracellular matrix organization GO:0030198 9.17 MMP9 MMP7 MMP2 LAMB1 FBN1 FBLN5
9 endodermal cell differentiation GO:0035987 9.13 MMP9 MMP2 LAMB1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 TRIM50 SCN5A PDLIM1 MMP9 MMP7 MMP2
2 metalloendopeptidase activity GO:0004222 9.5 MMP9 MMP7 MMP2
3 extracellular matrix structural constituent GO:0005201 9.46 LAMB1 FBN1 ELN EFEMP2
4 endopeptidase activity GO:0004175 9.43 MMP9 MMP7 MMP2
5 extracellular matrix constituent conferring elasticity GO:0030023 8.8 FBN1 FBLN5 ELN

Sources for Supravalvular Aortic Stenosis

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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