SVAS
MCID: SPR004
MIFTS: 54

Supravalvular Aortic Stenosis (SVAS)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Supravalvular Aortic Stenosis

MalaCards integrated aliases for Supravalvular Aortic Stenosis:

Name: Supravalvular Aortic Stenosis 57 11 19 42 58 73 14 36 71 75
Supravalvar Aortic Stenosis 57 42 28 12 5
Svas 57 19 42 58 73
Supravalvar Aortic Stenosis, Eisenberg Type 57 19
Aortic Stenosis, Supravalvular 42 43
Aortic Supravalvular Stenosis 19 75
Supra-Valvular Aortic Stenosis 11
Stenosis, Aortic Supravalvular 42
Stenosis, Supravalvular Aortic 42
Supravalvular Stenosis, Aortic 42
Aortic Stenosis Supravalvular 53

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

1-9/100000 (Europe) 1-5/10000 (Europe) 58

Age Of Onset:

All ages 58

Classifications:

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


External Ids:

Disease Ontology 11 DOID:1929
OMIM® 57 185500
MeSH 43 D021921
NCIt 49 C85176
SNOMED-CT 68 204436002
ICD10 31 Q25.3
MESH via Orphanet 44 D021921
ICD10 via Orphanet 32 Q25.3
UMLS via Orphanet 72 C0003499 C1305147
Orphanet 58 ORPHA3193
UMLS 71 C0003499

Summaries for Supravalvular Aortic Stenosis

MedlinePlus Genetics: 42 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 supravalvar aortic stenosis, is related to aortic valve disease 2 and aortic valve insufficiency. An important gene associated with Supravalvular Aortic Stenosis is ELN (Elastin), and among its related pathways/superpathways are Extracellular matrix organization and 7q11.23 copy number variation syndrome. The drugs Iodine and Cadexomer iodine have been mentioned in the context of this disorder. Affiliated tissues include heart, smooth muscle and skeletal muscle, and related phenotypes are arrhythmia and supravalvular aortic stenosis

GARD: 19 Supravalvular aortic stenosis (SVAS) is a type of heart defect. 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. 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 genetic changes 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).

Orphanet: 58 A rare aortic malformation characterized by the narrowing of the aorta lumen (close to its origin) associated or not with stenosis of other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (left ventricle in case of aorta involvement, right ventricle in case of pulmonary artery involvement).

UniProtKB/Swiss-Prot: 73 Congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome.

Disease Ontology: 11 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.

Wikipedia 75 Supravalvular aortic stenosis: Supravalvular aortic stenosis is a congenital obstructive narrowing of the aorta just above the aortic... more...

Aortic supravalvular stenosis: 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 153)
# Related Disease Score Top Affiliating Genes
1 aortic valve disease 2 32.5 PDLIM1 FBN1 ELN
2 aortic valve insufficiency 31.5 FBN1 ELN EFEMP2
3 aortic dissection 31.1 FBN1 FBLN5 ELN EFEMP2
4 aortic aneurysm 31.1 FBN1 FBLN5 ELN EFEMP2
5 patent ductus arteriosus 1 30.6 PRODH FBN1 ELN EFEMP2
6 orthostatic intolerance 30.6 PDLIM1 FBN1 ELN EFEMP2
7 aortic aneurysm, familial thoracic 1 30.5 FBN1 FBLN5 ELN EFEMP2
8 williams-beuren syndrome 30.5 TRIM50 TBL2 PRODH PDLIM1 LIMK1 GTF2IRD2B
9 aortitis 30.5 FBN1 ELN
10 cutis laxa, autosomal dominant 1 30.5 FBN1 FBLN5 ELN-AS1 ELN EFEMP2
11 aortic disease 30.4 FBN1 ELN EFEMP2
12 inguinal hernia 30.4 FBN1 FBLN5 ELN EFEMP2
13 atrial heart septal defect 30.3 PRODH FBN1 ELN
14 cutis laxa 30.3 PRODH LAMB1 FBN1 FBLN5 ELN EFEMP2
15 williams-beuren region duplication syndrome 29.4 TBL2 LIMK1 GTF2IRD2B GTF2IRD2 GTF2IRD1 GTF2I
16 hypercalcemia, infantile, 1 11.3
17 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.7
18 vascular disease 10.7
19 familial hypercholesterolemia 10.6
20 hypercholesterolemia, familial, 1 10.6
21 peripheral pulmonary stenosis 10.6
22 aortic valve disease 3 10.6
23 cardiac arrest 10.5
24 aortic valve disease 1 10.5
25 coarctation of aorta 10.5
26 mitral valve insufficiency 10.5
27 homozygous familial hypercholesterolemia 10.5
28 lipoprotein quantitative trait locus 10.5
29 coronary stenosis 10.5
30 subvalvular aortic stenosis 10.4
31 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.4
32 pulmonary valve stenosis 10.4
33 subclavian artery aneurysm 10.3 FBN1 ELN
34 autosomal recessive cutis laxa type iii 10.3 FBLN5 EFEMP2
35 cutis laxa, autosomal dominant 2 10.3 FBLN5 EFEMP2
36 takayasu arteritis 10.3
37 infective endocarditis 10.3
38 endocarditis 10.3
39 heart septal defect 10.3
40 idiopathic infantile hypercalcemia 10.3
41 tricuspid valve prolapse 10.3 FBN1 EFEMP2
42 cutis laxa, autosomal recessive, type iia 10.3 FBLN5 EFEMP2
43 cutis laxa, autosomal recessive, type iib 10.3 FBLN5 EFEMP2
44 cutis laxa, autosomal recessive, type ia 10.3 FBLN5 ELN EFEMP2
45 bladder diverticulum 10.3 FBLN5 ELN EFEMP2
46 phacogenic glaucoma 10.3 FBN1 FBLN5 ELN
47 cutis laxa, autosomal recessive, type ib 10.3 FBLN5 ELN EFEMP2
48 autosomal recessive cutis laxa type ii classic type 10.3 FBLN5 ELN EFEMP2
49 intellectual developmental disorder, x-linked 108 10.3 GTF2IRD1 GTF2I
50 pneumothorax 10.3 FBN1 FBLN5 ELN

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 30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arrhythmia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011675
2 supravalvular aortic stenosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004381
3 pulmonic stenosis 30 HP:0001642
4 pulmonary artery stenosis 30 HP:0004415
5 peripheral arterial stenosis 30 HP:0004950

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiac:
pulmonary artery stenosis
supravalvar aortic stenosis
pulmonary valvular stenosis

Vascular:
peripheral arterial stenosis

Clinical features from OMIM®:

185500 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased free cholesterol GR00340-A-2 8.8 BAZ1B BCL7B TBL2

MGI Mouse Phenotypes related to Supravalvular Aortic Stenosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 BAZ1B EFEMP2 ELN FBLN5 FBN1 GTF2IRD1

Drugs & Therapeutics for Supravalvular Aortic Stenosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iodine Approved, Investigational 7553-56-2 807
2
Cadexomer iodine Experimental 94820-09-4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank Recruiting NCT02706639
2 Impact of Elastin Mediated Vascular Stiffness on End Organs Recruiting NCT02840448
3 Comparison of Spectral Photon Counting CT (SPCCT) With Dual Energy CT (DECT) and Magnetic Resonance Imaging (MRI) for Plaque and Lumen Carotid Arteries Evaluation. Recruiting NCT04466787

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 28 ELN

Anatomical Context for Supravalvular Aortic Stenosis

Organs/tissues related to Supravalvular Aortic Stenosis:

MalaCards : Heart, Smooth Muscle, Skeletal Muscle, Cerebellum, Kidney, Liver, Skin

Publications for Supravalvular Aortic Stenosis

Articles related to Supravalvular Aortic Stenosis:

(show top 50) (show all 1100)
# Title Authors PMID Year
1
Elastin: mutational spectrum in supravalvular aortic stenosis. 53 62 57 5
11175284 2000
2
Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. 53 62 57 5
9215671 1997
3
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. 53 62 57 5
9215670 1997
4
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. 62 57 5
19844261 2010
5
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. 62 57 5
8541862 1995
6
Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. 62 57 5
8132745 1994
7
Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7. 62 57 5
8364568 1993
8
Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene. 62 57 5
8362925 1993
9
Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene. 53 62 5
11735026 2001
10
A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7. 53 62 57
8475063 1993
11
Domains 16 and 17 of tropoelastin in elastic fibre formation. 62 5
17037986 2007
12
De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome. 62 57
10710222 2000
13
A new mutation in the elastin gene causing supravalvular aortic stenosis. 62 5
10190538 1999
14
Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. 62 5
10190324 1999
15
Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. 62 5
7611295 1995
16
Confirmation of linkage of supravalvular aortic stenosis to the elastin gene on chromosome 7q. 62 57
7977109 1994
17
The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. 62 57
8096434 1993
18
Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: a form of arterial dysplasia. 62 57
8456853 1993
19
Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis. 62 57
1552547 1992
20
Autosomal dominant supravalvular aortic stenosis: large three-generation family. 62 57
2658589 1989
21
Spectrum of findings in a family with nonsyndromic autosomal dominant supravalvular aortic stenosis: a Doppler echocardiographic study. 62 57
2913119 1989
22
Familial supravalvular aortic stenosis: a genetic study. 62 57
2918546 1989
23
Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis. 62 57
3164411 1988
24
Supravalvular aortic stenosis. Clinical and pathologic observations in six patients. 62 57
3838444 1985
25
Familial supravalvular aortic stenosis. Report of a large family and review of the literature. 62 57
975952 1976
26
Supravalvular aortic stenosis. Report of a family with peculiar somatic features and normal intelligence. 62 57
5780776 1969
27
Supravalvular aortic stenosis. Unusual observations in three patients. 62 57
5773126 1969
28
Familial supravalvular aortic stenosis. 62 57
5748503 1968
29
Pathogenesis of the supravalvular aortic stenosis syndrome. 62 57
6039813 1967
30
FAMILIAL SUPRAVALVAR AORTIC STENOSIS. 62 57
14324113 1965
31
FAMILIAL SUPRAVALVULAR AORTIC STENOSIS. 62 57
14186652 1964
32
Supravalvular aortic stenosis. 62 57
14007182 1961
33
Supravalvular aortic stenosis. Clinical experiences with four patients including familial occurrence. 62 57
14008275 1961
34
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders. 5
29907982 2018
35
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 5
29555671 2018
36
De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation. 5
28277377 2017
37
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. 5
25205790 2014
38
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
39
Elastin region deletions in Williams syndrome. 5
10627943 1999
40
Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. 5
8968740 1996
41
Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. 5
7557968 1995
42
Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. 5
7726172 1995
43
Systemic and pulmonary artery dysplasia associated with unexpected death in infancy. 57
5431207 1970
44
Familial arteriopathy with associated pulmonary and systemic arterial stenoses. 57
5401816 1969
45
[Genetic studies in supravalvular aortic stenoses]. 57
5868428 1965
46
MATERNAL RUBELLA AND PULMONARY ARTERY STENOSES. REPORT OF ELEVEN CASES. 57
14044445 1963
47
Congenital, multiple peripheral stenoses of the pulmonary artery. 57
13408018 1957
48
Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism. 53 62
20007321 2010
49
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. 53 62
19568270 2010
50
An investigation of voice quality in individuals with inherited elastin gene abnormalities. 53 62
18307085 2008

Variations for Supravalvular Aortic Stenosis

ClinVar genetic disease variations for Supravalvular Aortic Stenosis:

5 (show top 50) (show all 419)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ELN ELN, 100-KB DEL DEL Pathogenic
16719 GRCh37:
GRCh38:
2 ELN ELN, 30-KB DEL DEL Pathogenic
16720 GRCh37:
GRCh38:
3 ELN-AS1, ELN NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) SNV Pathogenic
16723 rs137854453 GRCh37: 7:73474514-73474514
GRCh38: 7:74060184-74060184
4 ELN NM_000501.4(ELN):c.1040del (p.Pro347fs) DEL Pathogenic
16730 rs1563826213 GRCh37: 7:73467581-73467581
GRCh38: 7:74053251-74053251
5 ELN NM_000501.4(ELN):c.450C>G (p.Tyr150Ter) SNV Pathogenic
16731 rs137854454 GRCh37: 7:73458231-73458231
GRCh38: 7:74043901-74043901
6 ELN NM_000501.4(ELN):c.526A>T (p.Lys176Ter) SNV Pathogenic
16732 rs137854455 GRCh37: 7:73459608-73459608
GRCh38: 7:74045278-74045278
7 ELN NM_000501.4(ELN):c.1858+5G>C SNV Pathogenic
29690 rs1554686162 GRCh37: 7:73477559-73477559
GRCh38: 7:74063229-74063229
8 ELN NM_000501.4(ELN):c.43dup (p.Leu15fs) DUP Pathogenic
163381 rs727503022 GRCh37: 7:73442558-73442559
GRCh38: 7:74028228-74028229
9 ELN NM_000501.4(ELN):c.131del (p.Pro44fs) DEL Pathogenic
163382 rs727503023 GRCh37: 7:73449741-73449741
GRCh38: 7:74035411-74035411
10 ELN NM_000501.4(ELN):c.435del (p.Leu146fs) DEL Pathogenic
163383 rs727503024 GRCh37: 7:73458213-73458213
GRCh38: 7:74043883-74043883
11 ELN-AS1, ELN NM_000501.4(ELN):c.1744del (p.Ala582fs) DEL Pathogenic
163395 rs727503783 GRCh37: 7:73474825-73474825
GRCh38: 7:74060495-74060495
12 ELN-AS1, ELN NM_000501.4(ELN):c.1785T>A (p.Tyr595Ter) SNV Pathogenic
163396 rs727503033 GRCh37: 7:73475468-73475468
GRCh38: 7:74061138-74061138
13 ELN NM_000501.4(ELN):c.1918+1G>A SNV Pathogenic
163398 rs727503035 GRCh37: 7:73477700-73477700
GRCh38: 7:74063370-74063370
14 ELN NM_000501.4(ELN):c.889+2T>C SNV Pathogenic
177951 rs727504419 GRCh37: 7:73466171-73466171
GRCh38: 7:74051841-74051841
15 ELN NM_000501.4(ELN):c.1208del (p.Gly403fs) DEL Pathogenic
177996 rs727504433 GRCh37: 7:73470654-73470654
GRCh38: 7:74056324-74056324
16 ELN NM_000501.4(ELN):c.890-2A>G SNV Pathogenic
177997 rs727504434 GRCh37: 7:73466252-73466252
GRCh38: 7:74051922-74051922
17 ELN NM_000501.4(ELN):c.608del (p.Pro203fs) DEL Pathogenic
178976 rs727504581 GRCh37: 7:73461060-73461060
GRCh38: 7:74046730-74046730
18 ELN NM_000501.4(ELN):c.1113dup (p.Ala372fs) DUP Pathogenic
179271 rs730880355 GRCh37: 7:73469060-73469061
GRCh38: 7:74054730-74054731
19 ELN NM_000501.4(ELN):c.862dup (p.Ala288fs) DUP Pathogenic
163388 rs727503028 GRCh37: 7:73466138-73466139
GRCh38: 7:74051808-74051809
20 ELN NM_000501.4(ELN):c.1097-1G>A SNV Pathogenic
163389 rs727503029 GRCh37: 7:73469045-73469045
GRCh38: 7:74054715-74054715
21 ELN NC_000007.13:g.(?_73442119)_(73484237_?)del DEL Pathogenic
417566 GRCh37: 7:73442119-73484237
GRCh38:
22 ELN NC_000007.13:g.(?_73482987)_(73484237_?)del DEL Pathogenic
417567 GRCh37: 7:73482987-73484237
GRCh38:
23 ELN NM_000501.2(ELN):c.(?_-60)_(*57_?)del DEL Pathogenic
505198 GRCh37: 7:73442458-73483087
GRCh38:
24 ELN NM_000501.4(ELN):c.634A>T (p.Lys212Ter) SNV Pathogenic
504955 rs1554672587 GRCh37: 7:73461088-73461088
GRCh38: 7:74046758-74046758
25 ELN NC_000007.13:g.(?_73442498)_(73483050_?)del DEL Pathogenic
524226 GRCh37: 7:73442498-73483050
GRCh38:
26 ELN and overlap with 2 gene(s) NC_000007.14:g.(?_74035344)_(74068720_?)del DEL Pathogenic
642647 GRCh37: 7:73449674-73483050
GRCh38: 7:74035344-74068720
27 ELN NC_000007.14:g.(?_74028178)_(74068710_?)del DEL Pathogenic
832968 GRCh37: 7:73442508-73483040
GRCh38:
28 ELN NM_000501.4(ELN):c.890-1G>A SNV Pathogenic
995872 rs1794129841 GRCh37: 7:73466253-73466253
GRCh38: 7:74051923-74051923
29 overlap with 8 genes NC_000007.13:g.(?_73150889)_(73604636_?)del DEL Pathogenic
1071515 GRCh37: 7:73150889-73604636
GRCh38:
30 ELN NM_000501.4(ELN):c.582del (p.Phe195fs) DEL Pathogenic
1320044 GRCh37: 7:73461034-73461034
GRCh38: 7:74046704-74046704
31 ELN NM_000501.4(ELN):c.1393dup (p.Ala465fs) DUP Pathogenic
1359460 GRCh37: 7:73472004-73472005
GRCh38: 7:74057674-74057675
32 ELN NM_000501.4(ELN):c.96del (p.Ile33fs) DEL Pathogenic
1381578 GRCh37: 7:73449706-73449706
GRCh38: 7:74035376-74035376
33 ELN NM_000501.4(ELN):c.1351A>T (p.Lys451Ter) SNV Pathogenic
1382426 GRCh37: 7:73471037-73471037
GRCh38: 7:74056707-74056707
34 ELN NM_000501.4(ELN):c.166del (p.Leu56fs) DEL Pathogenic
1458249 GRCh37: 7:73452039-73452039
GRCh38: 7:74037709-74037709
35 ELN NM_000501.4(ELN):c.1168G>T (p.Gly390Ter) SNV Pathogenic
1445727 GRCh37: 7:73470618-73470618
GRCh38: 7:74056288-74056288
36 ELN NM_000501.4(ELN):c.1075_1082dup (p.Ala362fs) DUP Pathogenic
1454234 GRCh37: 7:73467615-73467616
GRCh38: 7:74053285-74053286
37 ELN NM_000501.4(ELN):c.800-2A>G SNV Pathogenic
163387 rs727503027 GRCh37: 7:73466078-73466078
GRCh38: 7:74051748-74051748
38 ELN NM_000501.4(ELN):c.417del (p.Val141fs) DEL Pathogenic
238949 rs878854452 GRCh37: 7:73457486-73457486
GRCh38: 7:74043156-74043156
39 ELN NM_000501.4(ELN):c.171del (p.Pro58fs) DEL Pathogenic
505162 rs1554666513 GRCh37: 7:73452041-73452041
GRCh38: 7:74037711-74037711
40 ELN NM_000501.4(ELN):c.869del (p.Pro290fs) DEL Pathogenic
850874 rs1794104889 GRCh37: 7:73466148-73466148
GRCh38: 7:74051818-74051818
41 ELN NM_000501.4(ELN):c.65_69dup (p.Ser24fs) DUP Pathogenic
852119 rs1787875866 GRCh37: 7:73442579-73442580
GRCh38: 7:74028249-74028250
42 ELN NM_000501.4(ELN):c.391C>T (p.Gln131Ter) SNV Pathogenic
852728 rs1791626037 GRCh37: 7:73457462-73457462
GRCh38: 7:74043132-74043132
43 ELN NM_000501.4(ELN):c.1817del (p.Leu606fs) DEL Pathogenic
860361 rs1797063858 GRCh37: 7:73477513-73477513
GRCh38: 7:74063183-74063183
44 ELN NM_000501.4(ELN):c.1101del (p.Val368fs) DEL Pathogenic
213187 rs863223520 GRCh37: 7:73469049-73469049
GRCh38: 7:74054719-74054719
45 ELN NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter) SNV Pathogenic
835472 rs199621188 GRCh37: 7:73469098-73469098
GRCh38: 7:74054768-74054768
46 ELN NM_000501.4(ELN):c.414dup (p.Gly139fs) DUP Pathogenic
958465 rs1791633917 GRCh37: 7:73457484-73457485
GRCh38: 7:74043154-74043155
47 ELN NM_000501.4(ELN):c.885del (p.Ile295fs) DEL Pathogenic
961907 rs1794108907 GRCh37: 7:73466165-73466165
GRCh38: 7:74051835-74051835
48 ELN NM_000501.4(ELN):c.278del (p.Pro93fs) DEL Pathogenic
966863 rs1791508570 GRCh37: 7:73456988-73456988
GRCh38: 7:74042658-74042658
49 ELN NM_000501.4(ELN):c.348del (p.Gly117fs) DEL Pathogenic
1068837 GRCh37: 7:73457336-73457336
GRCh38: 7:74043006-74043006
50 ELN-AS1, ELN NM_000501.4(ELN):c.1679del (p.Pro560fs) DEL Pathogenic
1074749 GRCh37: 7:73474761-73474761
GRCh38: 7:74060431-74060431

Copy number variations for Supravalvular Aortic Stenosis from CNVD:

6
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.2 LAMB1 FBN1 FBLN5 ELN EFEMP2
2 11.33 TRIM50 TBL2 LIMK1 GTF2IRD1 GTF2I FKBP6
3
Show member pathways
11.17 FBN1 FBLN5 ELN EFEMP2
4 10.56 LIMK1 LAMB1 FBN1 ELN EFEMP2

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 collagen-containing extracellular matrix GO:0062023 9.65 LAMB1 FBN1 FBLN5 ELN EFEMP2
2 microfibril GO:0001527 9.46 FBN1 EFEMP2
3 elastic fiber GO:0071953 9.1 FBLN5 ELN EFEMP2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix assembly GO:0085029 9.33 FKBP10 ELN
2 elastic fiber assembly GO:0048251 9.26 FBLN5 EFEMP2
3 stress fiber assembly GO:0043149 9.1 PDLIM1 LIMK1 ELN

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.56 LAMB1 FBN1 ELN EFEMP2
2 FK506 binding GO:0005528 9.46 FKBP6 FKBP10
3 extracellular matrix constituent conferring elasticity GO:0030023 9.1 FBN1 FBLN5 ELN

Sources for Supravalvular Aortic Stenosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....