SVAS
MCID: SPR004
MIFTS: 57

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 20 43 58 72 15 37 70
Svas 57 20 43 58 72
Supravalvar Aortic Stenosis 57 29 13 6
Supravalvar Aortic Stenosis, Eisenberg Type 57 20
Aortic Stenosis, Supravalvular 43 44
Aortic Supravalvular Stenosis 73 20
Supra-Valvular Aortic Stenosis 12
Stenosis, Aortic Supravalvular 43
Stenosis, Supravalvular Aortic 43
Supravalvular Stenosis, Aortic 43
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®:

57 (Updated 05-Apr-2021)
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® 57 185500
MeSH 44 D021921
NCIt 50 C85176
SNOMED-CT 67 204436002
ICD10 32 Q25.3
MESH via Orphanet 45 D021921
ICD10 via Orphanet 33 Q25.3
UMLS via Orphanet 71 C0003499 C1305147
Orphanet 58 ORPHA3193
UMLS 70 C0003499

Summaries for Supravalvular Aortic Stenosis

MedlinePlus Genetics : 43 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 aortic valve insufficiency and aortic valve disease 2. 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 Iodine and Cadexomer iodine have been mentioned in the context of this disorder. Affiliated tissues include heart, smooth muscle and kidney, 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.

GARD : 20 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 : 72 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 : 73 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 179)
# Related Disease Score Top Affiliating Genes
1 aortic valve insufficiency 31.0 FBN1 ELN EFEMP2
2 aortic valve disease 2 30.8 GTF2IRD1 FBN1 ELN
3 aneurysm 30.7 FBN1 FBLN5 ELN EFEMP2
4 intracranial aneurysm 30.6 MMP2 LIMK1 ELN
5 orthostatic intolerance 30.6 PDLIM1 FBN1 ELN
6 first-degree atrioventricular block 30.6 SCN5A KCNH2
7 aortic disease 30.3 MMP9 FBN1 ELN
8 atrial heart septal defect 30.3 SCN5A FBN1 ELN
9 aortic dissection 30.2 MMP9 MMP2 FBN1 FBLN5 ELN EFEMP2
10 fbln5-related cutis laxa 30.2 FBLN5 ELN EFEMP2
11 aortic aneurysm 30.2 MMP9 MMP2 FBN1 FBLN5 ELN EFEMP2
12 tetralogy of fallot 30.1 SCN5A MMP9 KCNH2 FBN1 ELN
13 inguinal hernia 29.9 MMP9 MMP2 FBN1 FBLN5 ELN
14 cutis laxa, autosomal dominant 1 29.9 FBN1 FBLN5 ELN EFEMP2
15 aortic aneurysm, familial thoracic 1 29.8 MMP9 MMP2 FBN1 FBLN5 ELN EFEMP2
16 aortic valve disease 1 29.7 MMP9 MMP2 FBN1 ELN EFEMP2
17 cutis laxa 29.5 MMP9 MMP2 LAMB1 FBN1 FBLN5 ELN
18 williams-beuren syndrome 29.1 TRIM50 TBL2 PDLIM1 MMP9 MMP7 MMP2
19 hypercholesterolemia, familial, 1 10.6
20 familial hypercholesterolemia 10.6
21 peripheral pulmonary stenosis 10.6
22 cardiac arrest 10.5
23 vascular disease 10.5
24 homozygous familial hypercholesterolemia 10.5
25 mitral valve insufficiency 10.4
26 coronary stenosis 10.4
27 subvalvular aortic stenosis 10.4
28 coarctation of aorta 10.4
29 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.4
30 endocarditis 10.4
31 cerebral aneurysms 10.4 MMP2 ELN
32 extracranial arteriovenous malformation 10.3 MMP9 MMP2
33 acute transverse myelitis 10.3 MMP9 MMP2
34 lentigo maligna melanoma 10.3 MMP9 MMP2
35 acquired cutis laxa 10.3 FBLN5 ELN
36 nasal cavity squamous cell carcinoma 10.3 MMP9 MMP2
37 late-onset focal dermal elastosis 10.3 FBN1 ELN
38 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.3 FBN1 ELN
39 odontogenic myxoma 10.3 MMP9 MMP2
40 long qt syndrome 14 10.3 SCN5A KCNH2
41 familial abdominal aortic aneurysm 10.3 FBN1 ELN
42 nasal cavity benign neoplasm 10.3 MMP9 MMP2
43 long qt syndrome 12 10.3 SCN5A KCNH2
44 pediatric multiple sclerosis 10.3 MMP9 MMP7
45 patent ductus arteriosus 1 10.3
46 heart septal defect 10.3
47 congestive heart failure 10.3
48 idiopathic infantile hypercalcemia 10.3
49 hemopericardium 10.3 FBN1 ELN
50 long qt syndrome 13 10.3 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®:

57 (Updated 05-Apr-2021)
Cardiac:
pulmonary artery stenosis
supravalvar aortic stenosis
pulmonary valvular stenosis

Vascular:
peripheral arterial stenosis

Clinical features from OMIM®:

185500 (Updated 05-Apr-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-3 9.55 LIMK1
2 Decreased viability GR00249-S 9.55 EFEMP2 GTF2I
3 Decreased viability GR00381-A-1 9.55 TRIM50
4 Decreased viability GR00386-A-1 9.55 CLIP2 EFEMP2 ELN FKBP6 MMP7
5 Decreased viability GR00402-S-2 9.55 CLIP2 EFEMP2 ELN FBLN5 FBN1 LAMB1

MGI Mouse Phenotypes related to Supravalvular Aortic Stenosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 BAZ1B EFEMP2 FBLN5 FBN1 GTF2I GTF2IRD1
2 growth/size/body region MP:0005378 9.93 BAZ1B CLIP2 EFEMP2 FBLN5 FBN1 GTF2I
3 craniofacial MP:0005382 9.8 BAZ1B FBLN5 FBN1 GTF2I GTF2IRD1 KCNH2
4 muscle MP:0005369 9.65 BAZ1B EFEMP2 FBLN5 FBN1 GTF2IRD1 KCNH2
5 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):


# 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 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
3 Impact of Elastin Mediated Vascular Stiffness on End Organs Recruiting NCT02840448
4 Open Access Database of Standing Full Body Radiographs in Asymptomatic Volunteers Recruiting NCT03076658

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, Smooth Muscle, Kidney, Skin, Brain, Cerebellum, Skeletal Muscle

Publications for Supravalvular Aortic Stenosis

Articles related to Supravalvular Aortic Stenosis:

(show top 50) (show all 899)
# Title Authors PMID Year
1
Elastin: mutational spectrum in supravalvular aortic stenosis. 61 54 57 6
11175284 2000
2
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. 6 54 61 57
9215670 1997
3
Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. 61 6 54 57
9215671 1997
4
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. 57 6 61
19844261 2010
5
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. 57 6 61
8541862 1995
6
Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. 61 57 6
8132745 1994
7
Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene. 6 61 57
8362925 1993
8
Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7. 61 57 6
8364568 1993
9
Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene. 6 54 61
11735026 2001
10
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay. 6 54 61
10942104 2000
11
A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7. 61 54 57
8475063 1993
12
Domains 16 and 17 of tropoelastin in elastic fibre formation. 61 6
17037986 2007
13
De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome. 57 61
10710222 2000
14
A new mutation in the elastin gene causing supravalvular aortic stenosis. 6 61
10190538 1999
15
Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. 6 61
10190324 1999
16
Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. 6 61
7611295 1995
17
Confirmation of linkage of supravalvular aortic stenosis to the elastin gene on chromosome 7q. 61 57
7977109 1994
18
The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. 61 57
8096434 1993
19
Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: a form of arterial dysplasia. 57 61
8456853 1993
20
Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis. 61 57
1552547 1992
21
Autosomal dominant supravalvular aortic stenosis: large three-generation family. 61 57
2658589 1989
22
Spectrum of findings in a family with nonsyndromic autosomal dominant supravalvular aortic stenosis: a Doppler echocardiographic study. 61 57
2913119 1989
23
Familial supravalvular aortic stenosis: a genetic study. 57 61
2918546 1989
24
Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis. 61 57
3164411 1988
25
Supravalvular aortic stenosis. Clinical and pathologic observations in six patients. 57 61
3838444 1985
26
Familial supravalvular aortic stenosis. Report of a large family and review of the literature. 61 57
975952 1976
27
Supravalvular aortic stenosis. Report of a family with peculiar somatic features and normal intelligence. 61 57
5780776 1969
28
Supravalvular aortic stenosis. Unusual observations in three patients. 57 61
5773126 1969
29
Familial supravalvular aortic stenosis. 61 57
5748503 1968
30
Pathogenesis of the supravalvular aortic stenosis syndrome. 61 57
6039813 1967
31
FAMILIAL SUPRAVALVULAR AORTIC STENOSIS. 57 61
14186652 1964
32
Supravalvular aortic stenosis. 61 57
14007182 1961
33
Supravalvular aortic stenosis. Clinical experiences with four patients including familial occurrence. 57 61
14008275 1961
34
De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation. 6
28277377 2017
35
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. 6
25205790 2014
36
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. 6
23442826 2013
37
Haploinsufficiency of elastin gene may lead to familial cardiopathy and pulmonary emphysema. 6
22740173 2012
38
Elastin region deletions in Williams syndrome. 6
10627943 1999
39
Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. 6
8968740 1996
40
Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. 6
7557968 1995
41
Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. 6
7726172 1995
42
Systemic and pulmonary artery dysplasia associated with unexpected death in infancy. 57
5431207 1970
43
Familial arteriopathy with associated pulmonary and systemic arterial stenoses. 57
5401816 1969
44
FAMILIAL SUPRAVALVAR AORTIC STENOSIS. 57
14324113 1965
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. 61 54
20007321 2010
49
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. 61 54
19568270 2010
50
An investigation of voice quality in individuals with inherited elastin gene abnormalities. 61 54
18307085 2008

Variations for Supravalvular Aortic Stenosis

ClinVar genetic disease variations for Supravalvular Aortic Stenosis:

6 (show top 50) (show all 266)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ELN ELN, 100-KB DEL Deletion Pathogenic 16719 GRCh37:
GRCh38:
2 ELN ELN, 30-KB DEL Deletion Pathogenic 16720 GRCh37:
GRCh38:
3 ELN ELN, 1-BP DEL, 1821C Deletion Pathogenic 16724 GRCh37:
GRCh38:
4 ELN ELN, 1-BP INS, FS615TER Insertion Pathogenic 16725 GRCh37:
GRCh38:
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 ELN, ARG610GLN AND 24-BP DUP, NT1034 Duplication Pathogenic 16733 GRCh37:
GRCh38:
8 ELN NM_000501.4(ELN):c.1858+5G>C SNV Pathogenic 29690 rs1554686162 GRCh37: 7:73477559-73477559
GRCh38: 7:74063229-74063229
9 ELN NM_000501.4(ELN):c.417del (p.Val141fs) Deletion Pathogenic 238949 rs878854452 GRCh37: 7:73457486-73457486
GRCh38: 7:74043156-74043156
10 ELN NC_000007.13:g.(?_73442119)_(73484237_?)del Deletion Pathogenic 417566 GRCh37: 7:73442119-73484237
GRCh38:
11 ELN NC_000007.13:g.(?_73482987)_(73484237_?)del Deletion Pathogenic 417567 GRCh37: 7:73482987-73484237
GRCh38:
12 ELN NM_000501.4(ELN):c.383del (p.Val128fs) Deletion Pathogenic 453329 rs1554669800 GRCh37: 7:73457454-73457454
GRCh38: 7:74043124-74043124
13 ELN NC_000007.13:g.(?_73442498)_(73483050_?)del Deletion Pathogenic 524226 GRCh37: 7:73442498-73483050
GRCh38:
14 ELN NC_000007.14:g.(?_74028168)_(74028289_?)del Deletion Pathogenic 831651 GRCh37: 7:73442498-73442619
GRCh38:
15 ELN NC_000007.14:g.(?_74068637)_(74068720_?)del Deletion Pathogenic 832918 GRCh37: 7:73482967-73483050
GRCh38:
16 ELN NC_000007.14:g.(?_74028178)_(74068710_?)del Deletion Pathogenic 832968 GRCh37: 7:73442508-73483040
GRCh38:
17 ELN NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter) SNV Pathogenic 835472 GRCh37: 7:73469098-73469098
GRCh38: 7:74054768-74054768
18 ELN NM_000501.4(ELN):c.869del (p.Pro290fs) Deletion Pathogenic 850874 GRCh37: 7:73466148-73466148
GRCh38: 7:74051818-74051818
19 ELN NM_000501.4(ELN):c.391C>T (p.Gln131Ter) SNV Pathogenic 852728 GRCh37: 7:73457462-73457462
GRCh38: 7:74043132-74043132
20 ELN NM_000501.4(ELN):c.1817del (p.Leu606fs) Deletion Pathogenic 860361 GRCh37: 7:73477513-73477513
GRCh38: 7:74063183-74063183
21 ELN NM_000501.4(ELN):c.163+2T>C SNV Pathogenic 652801 rs1584494326 GRCh37: 7:73450916-73450916
GRCh38: 7:74036586-74036586
22 ELN NM_000501.4(ELN):c.885del (p.Ile295fs) Deletion Pathogenic 961907 GRCh37: 7:73466165-73466165
GRCh38: 7:74051835-74051835
23 ELN NM_000501.4(ELN):c.278del (p.Pro93fs) Deletion Pathogenic 966863 GRCh37: 7:73456988-73456988
GRCh38: 7:74042658-74042658
24 ELN NM_000501.4(ELN):c.944A>G (p.Lys315Arg) SNV Pathogenic 524218 rs1554676454 GRCh37: 7:73466308-73466308
GRCh38: 7:74051978-74051978
25 ELN NM_000501.4(ELN):c.1227del (p.Gly410fs) Deletion Pathogenic 580650 rs1563836689 GRCh37: 7:73470677-73470677
GRCh38: 7:74056347-74056347
26 ELN NM_000501.4(ELN):c.690T>A (p.Tyr230Ter) SNV Pathogenic 581885 rs1400530335 GRCh37: 7:73462476-73462476
GRCh38: 7:74048146-74048146
27 ELN NM_000501.4(ELN):c.840_843dup (p.Val282fs) Duplication Pathogenic 840776 GRCh37: 7:73466119-73466120
GRCh38: 7:74051789-74051790
28 ELN NM_000501.4(ELN):c.1190dup (p.Tyr397Ter) Duplication Pathogenic 849178 GRCh37: 7:73470639-73470640
GRCh38: 7:74056309-74056310
29 ELN NM_000501.4(ELN):c.65_69dup (p.Ser24fs) Duplication Pathogenic 852119 GRCh37: 7:73442579-73442580
GRCh38: 7:74028249-74028250
30 ELN NM_000501.4(ELN):c.414dup (p.Gly139fs) Duplication Pathogenic 958465 GRCh37: 7:73457484-73457485
GRCh38: 7:74043154-74043155
31 ELN NM_000501.4(ELN):c.643+1_643+2delinsAG Indel Pathogenic 453331 rs1554672602 GRCh37: 7:73461098-73461099
GRCh38: 7:74046768-74046769
32 ELN NM_000501.4(ELN):c.43dup (p.Leu15fs) Duplication Pathogenic 163381 rs727503022 GRCh37: 7:73442558-73442559
GRCh38: 7:74028228-74028229
33 ELN NM_000501.4(ELN):c.131del (p.Pro44fs) Deletion Pathogenic 163382 rs727503023 GRCh37: 7:73449741-73449741
GRCh38: 7:74035411-74035411
34 ELN NM_000501.4(ELN):c.435del (p.Leu146fs) Deletion Pathogenic 163383 rs727503024 GRCh37: 7:73458213-73458213
GRCh38: 7:74043883-74043883
35 ELN NM_001278939.1(ELN):c.748del Deletion Pathogenic 946134 GRCh37: 7:73462832-73462832
GRCh38: 7:74048502-74048502
36 ELN NM_000501.4(ELN):c.1482del (p.Val495fs) Deletion Pathogenic 642454 rs1583959262 GRCh37: 7:73474283-73474283
GRCh38: 7:74059953-74059953
37 ELN NM_000501.4(ELN):c.1097-1G>A SNV Pathogenic 163389 rs727503029 GRCh37: 7:73469045-73469045
GRCh38: 7:74054715-74054715
38 ELN NM_000501.4(ELN):c.1918+1G>A SNV Pathogenic 163398 rs727503035 GRCh37: 7:73477700-73477700
GRCh38: 7:74063370-74063370
39 ELN NM_000501.4(ELN):c.889+2T>C SNV Pathogenic 177951 rs727504419 GRCh37: 7:73466171-73466171
GRCh38: 7:74051841-74051841
40 ELN NM_000501.4(ELN):c.1208del (p.Gly403fs) Deletion Pathogenic 177996 rs727504433 GRCh37: 7:73470654-73470654
GRCh38: 7:74056324-74056324
41 ELN NM_000501.4(ELN):c.890-2A>G SNV Pathogenic 177997 rs727504434 GRCh37: 7:73466252-73466252
GRCh38: 7:74051922-74051922
42 ELN NM_000501.4(ELN):c.608del (p.Pro203fs) Deletion Pathogenic 178976 rs727504581 GRCh37: 7:73461060-73461060
GRCh38: 7:74046730-74046730
43 ELN NM_000501.4(ELN):c.1113dup (p.Ala372fs) Duplication Pathogenic 179271 rs730880355 GRCh37: 7:73469060-73469061
GRCh38: 7:74054730-74054731
44 ELN NM_000501.4(ELN):c.1744del (p.Ala582fs) Deletion Pathogenic 163395 rs727503783 GRCh37: 7:73474825-73474825
GRCh38: 7:74060495-74060495
45 ELN NM_000501.4(ELN):c.1785T>A (p.Tyr595Ter) SNV Pathogenic 163396 rs727503033 GRCh37: 7:73475468-73475468
GRCh38: 7:74061138-74061138
46 ELN NM_000501.4(ELN):c.171del (p.Pro58fs) Deletion Pathogenic 505162 rs1554666513 GRCh37: 7:73452041-73452041
GRCh38: 7:74037711-74037711
47 ELN NM_000501.2(ELN):c.(?_-60)_(*57_?)del Deletion Pathogenic 505198 GRCh37: 7:73442458-73483087
GRCh38:
48 ELN NM_000501.4(ELN):c.634A>T (p.Lys212Ter) SNV Pathogenic 504955 rs1554672587 GRCh37: 7:73461088-73461088
GRCh38: 7:74046758-74046758
49 ELN NM_000501.4(ELN):c.1282G>T (p.Gly428Ter) SNV Pathogenic 213178 GRCh37: 7:73470732-73470732
GRCh38: 7:74056402-74056402
50 ELN and overlap with 1 gene(s) NC_000007.14:g.(?_74035344)_(74068720_?)del Deletion Pathogenic 642647 GRCh37: 7:73449674-73483050
GRCh38: 7:74035344-74068720

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 MMP9 MMP7 MMP2 LIMK1 LAMB1 FBN1
2
Show member pathways
11.88 MMP9 MMP7 MMP2 LAMB1 FBN1 FBLN5
3
Show member pathways
11.65 MMP9 MMP7 MMP2
4 11.56 MMP9 MMP7 MMP2
5 11.4 MMP9 MMP7 MMP2
6 11.34 MMP9 MMP2 ELN
7
Show member pathways
11.32 FBN1 FBLN5 ELN EFEMP2
8 11.04 MMP9 MMP7 MMP2 LAMB1
9 11.02 MMP9 LAMB1 ELN
10 10.76 LIMK1 LAMB1 FBN1 ELN EFEMP2
11 10.73 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 9.5 LAMB1 FBN1 EFEMP2
2 collagen-containing extracellular matrix GO:0062023 9.5 MMP9 MMP2 LAMB1 FBN1 FBLN5 ELN
3 elastic fiber GO:0071953 9.33 FBLN5 ELN EFEMP2
4 microfibril GO:0001527 9.26 FBN1 EFEMP2
5 extracellular matrix GO:0031012 9.17 MMP9 MMP7 MMP2 FBN1 FBLN5 ELN

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.49 SCN5A KCNH2
2 stress fiber assembly GO:0043149 9.48 PDLIM1 ELN
3 ventricular cardiac muscle cell action potential GO:0086005 9.46 SCN5A KCNH2
4 membrane depolarization during action potential GO:0086010 9.43 SCN5A KCNH2
5 extracellular matrix disassembly GO:0022617 9.43 MMP9 MMP7 MMP2
6 response to amyloid-beta GO:1904645 9.4 MMP9 MMP2
7 cellular response to UV-A GO:0071492 9.37 MMP9 MMP2
8 collagen catabolic process GO:0030574 9.33 MMP9 MMP7 MMP2
9 elastic fiber assembly GO:0048251 9.32 FBLN5 EFEMP2
10 extracellular matrix organization GO:0030198 9.17 MMP9 MMP7 MMP2 LAMB1 FBN1 FBLN5
11 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 10.28 TRIM50 TBL2 SCN5A PDLIM1 MMP9 MMP7
2 metalloendopeptidase activity GO:0004222 9.43 MMP9 MMP7 MMP2
3 endopeptidase activity GO:0004175 9.33 MMP9 MMP7 MMP2
4 extracellular matrix structural constituent GO:0005201 9.26 LAMB1 FBN1 ELN EFEMP2
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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