MCID: IDP082
MIFTS: 27

Idiopathic Ventricular Fibrillation, Non Brugada Type

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Idiopathic Ventricular Fibrillation, Non Brugada Type

MalaCards integrated aliases for Idiopathic Ventricular Fibrillation, Non Brugada Type:

Name: Idiopathic Ventricular Fibrillation, Non Brugada Type 58
Familial Paroxysmal Ventricular Fibrillation, Non Brugada Type 58

Characteristics:

Orphanet epidemiological data:

58
idiopathic ventricular fibrillation, non brugada type
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages;

Classifications:



External Ids:

ICD10 via Orphanet 33 I49.0
Orphanet 58 ORPHA228140

Summaries for Idiopathic Ventricular Fibrillation, Non Brugada Type

MalaCards based summary : Idiopathic Ventricular Fibrillation, Non Brugada Type, also known as familial paroxysmal ventricular fibrillation, non brugada type, is related to atrial fibrillation and left bundle branch hemiblock. An important gene associated with Idiopathic Ventricular Fibrillation, Non Brugada Type is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Cardiac conduction and Dilated cardiomyopathy. Affiliated tissues include heart.

Related Diseases for Idiopathic Ventricular Fibrillation, Non Brugada Type

Diseases related to Idiopathic Ventricular Fibrillation, Non Brugada Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 atrial fibrillation 10.0 SCN5A RYR2
2 left bundle branch hemiblock 10.0 SCN5A RYR2
3 paroxysmal ventricular fibrillation 10.0 SCN5A DPP6
4 syncope 10.0 SCN5A RYR2
5 brugada syndrome 1 10.0 SCN5A RYR2
6 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.9 SCN5A RYR2
7 noonan syndrome with multiple lentigines 9.9 SCN5A RYR2
8 long qt syndrome 14 9.8 SCN5A CACNA1C
9 anhidrosis, isolated, with normal sweat glands 9.8 RYR2 CACNA1C
10 brugada syndrome 4 9.8 SCN5A CACNA1C
11 familial periodic paralysis 9.8 SCN5A CACNA1C
12 long qt syndrome 5 9.8 SCN5A CACNA1C
13 long qt syndrome 6 9.8 SCN5A CACNA1C
14 cardiac arrest 9.8 SCN5A RYR2
15 right bundle branch block 9.8 SCN5A CACNA1C
16 jervell and lange-nielsen syndrome 1 9.8 SCN5A CACNA1C
17 sick sinus syndrome 9.7 SCN5A CACNA1C
18 hypokalemic periodic paralysis, type 1 9.7 SCN5A CACNA1C
19 atrial standstill 1 9.6 SCN5A RYR2
20 ventricular fibrillation, paroxysmal familial, 1 9.6 SCN5A RYR2 CACNA1C
21 sinoatrial node disease 9.6 SCN5A RYR2 CACNA1C
22 long qt syndrome 9 9.6 SCN5A RYR2 CACNA1C
23 long qt syndrome 9.6 SCN5A RYR2 CACNA1C
24 cardiac conduction defect 9.6 SCN5A RYR2 CACNA1C
25 long qt syndrome 3 9.6 SCN5A RYR2 CACNA1C
26 timothy syndrome 9.6 SCN5A RYR2 CACNA1C
27 andersen cardiodysrhythmic periodic paralysis 9.6 SCN5A RYR2 CACNA1C
28 cardiac arrhythmia, ankyrin-b-related 9.6 SCN5A RYR2 CACNA1C
29 short qt syndrome 9.6 SCN5A RYR2 CACNA1C
30 neuromuscular junction disease 9.6 SCN5A RYR2 CACNA1C
31 myasthenic syndrome, congenital, 5 9.6 SCN5A RYR2 CACNA1C
32 atrioventricular block 9.6 SCN5A RYR2 CACNA1C
33 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.6 SCN5A CACNA1C
34 isolated elevated serum creatine phosphokinase levels 9.6 SCN5A RYR2 CACNA1C
35 long qt syndrome 2 9.6 SCN5A RYR2 CACNA1C
36 progressive familial heart block 9.6 SCN5A RYR2 CACNA1C
37 intrinsic cardiomyopathy 9.6 SCN5A RYR2 CACNA1C
38 catecholaminergic polymorphic ventricular tachycardia 9.6 SCN5A RYR2 CACNA1C
39 malignant hyperthermia 9.6 SCN5A RYR2 CACNA1C
40 congestive heart failure 9.6 SCN5A RYR2 CACNA1C
41 familial atrial fibrillation 9.6 SCN5A RYR2 CACNA1C
42 long qt syndrome 1 9.6 SCN5A RYR2 CACNA1C
43 heart conduction disease 9.6 SCN5A RYR2 CACNA1C
44 arrhythmogenic right ventricular cardiomyopathy 9.5 SCN5A RYR2 CACNA1C
45 left ventricular noncompaction 9.5 SCN5A RYR2 CACNA1C
46 cardiomyopathy, familial hypertrophic, 1 9.5 SCN5A RYR2 CACNA1C
47 congenital myasthenic syndrome 9.5 SCN5A RYR2 CACNA1C
48 dilated cardiomyopathy 9.5 SCN5A RYR2 CACNA1C
49 hypertrophic cardiomyopathy 9.4 SCN5A RYR2 CACNA1C
50 cardiac arrhythmia 9.3 SCN5A RYR2 DPP6 CACNA1C

Graphical network of the top 20 diseases related to Idiopathic Ventricular Fibrillation, Non Brugada Type:



Diseases related to Idiopathic Ventricular Fibrillation, Non Brugada Type

Symptoms & Phenotypes for Idiopathic Ventricular Fibrillation, Non Brugada Type

Drugs & Therapeutics for Idiopathic Ventricular Fibrillation, Non Brugada Type

Search Clinical Trials , NIH Clinical Center for Idiopathic Ventricular Fibrillation, Non Brugada Type

Genetic Tests for Idiopathic Ventricular Fibrillation, Non Brugada Type

Anatomical Context for Idiopathic Ventricular Fibrillation, Non Brugada Type

MalaCards organs/tissues related to Idiopathic Ventricular Fibrillation, Non Brugada Type:

40
Heart

Publications for Idiopathic Ventricular Fibrillation, Non Brugada Type

Articles related to Idiopathic Ventricular Fibrillation, Non Brugada Type:

# Title Authors PMID Year
1
Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation. 6
19285295 2009
2
A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. 6
10940383 2000

Variations for Idiopathic Ventricular Fibrillation, Non Brugada Type

ClinVar genetic disease variations for Idiopathic Ventricular Fibrillation, Non Brugada Type:

6 (show top 50) (show all 258)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DPP6 NM_130797.4(DPP6):c.244-141059C>T SNV Pathogenic 16794 rs606231226 GRCh37: 7:154002240-154002240
GRCh38: 7:154305155-154305155
2 SCN5A NM_198056.2(SCN5A):c.5129C>T (p.Ser1710Leu) SNV Pathogenic 9383 rs137854604 GRCh37: 3:38592734-38592734
GRCh38: 3:38551243-38551243
3 SCN5A NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys) SNV Pathogenic 67633 rs199473097 GRCh37: 3:38648201-38648201
GRCh38: 3:38606710-38606710
4 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic 39444 rs45546039 GRCh37: 3:38655272-38655272
GRCh38: 3:38613781-38613781
5 SCN5A NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter) SNV Pathogenic 201546 rs757532106 GRCh37: 3:38591991-38591991
GRCh38: 3:38550500-38550500
6 SCN5A NM_198056.2(SCN5A):c.1567C>T (p.Arg523Cys) SNV Likely pathogenic 67667 rs199473119 GRCh37: 3:38645526-38645526
GRCh38: 3:38604035-38604035
7 CACNA1C NM_000719.7(CACNA1C):c.1114-316G>A SNV Likely pathogenic 155775 rs587782933 GRCh37: 12:2613692-2613692
GRCh38: 12:2504526-2504526
8 RYR2 NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) SNV Likely pathogenic 36739 rs193922623 GRCh37: 1:237664074-237664074
GRCh38: 1:237500774-237500774
9 RYR2 NM_001035.3(RYR2):c.14635C>A (p.Gln4879Lys) SNV Likely pathogenic 180506 rs730880200 GRCh37: 1:237991725-237991725
GRCh38: 1:237828425-237828425
10 SNTA1 NM_003098.2(SNTA1):c.589C>T (p.Arg197Trp) SNV Uncertain significance 180527 rs530603992 GRCh37: 20:32005637-32005637
GRCh38: 20:33417831-33417831
11 JUP NM_002230.4(JUP):c.1807G>T (p.Val603Leu) SNV Uncertain significance 180376 rs200327969 GRCh37: 17:39914003-39914003
GRCh38: 17:41757751-41757751
12 KCNH2 NM_172056.2(KCNH2):c.473-7C>T SNV Uncertain significance 180387 rs146570628 GRCh37: 7:150655597-150655597
GRCh38: 7:150958509-150958509
13 TTN NM_001267550.2(TTN):c.33501_33503AGA[6] (p.Glu11172dup) Microsatellite Uncertain significance 46889 rs368327166 GRCh37: 2:179544685-179544686
GRCh38: 2:178679958-178679959
14 SCN5A NM_000335.5(SCN5A):c.*587C>T SNV Uncertain significance 900233 GRCh37: 3:38591225-38591225
GRCh38: 3:38549734-38549734
15 LOC110121269 , SCN5A NM_000335.5(SCN5A):c.2889G>A (p.Leu963=) SNV Uncertain significance 900234 GRCh37: 3:38622761-38622761
GRCh38: 3:38581270-38581270
16 SCN5A NM_000335.5(SCN5A):c.3993G>A (p.Pro1331=) SNV Uncertain significance 901564 GRCh37: 3:38601887-38601887
GRCh38: 3:38560396-38560396
17 SCN5A NM_198056.2(SCN5A):c.4G>A (p.Ala2Thr) SNV Uncertain significance 67950 rs199473042 GRCh37: 3:38674795-38674795
GRCh38: 3:38633304-38633304
18 SCN5A NM_000335.5(SCN5A):c.4297-14T>C SNV Uncertain significance 165139 rs56104887 GRCh37: 3:38598083-38598083
GRCh38: 3:38556592-38556592
19 SCN5A NM_000335.5(SCN5A):c.4296+4G>T SNV Uncertain significance 899777 GRCh37: 3:38598718-38598718
GRCh38: 3:38557227-38557227
20 SCN5A NM_000335.5(SCN5A):c.*1058G>T SNV Uncertain significance 903445 GRCh37: 3:38590754-38590754
GRCh38: 3:38549263-38549263
21 SCN5A NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr) SNV Uncertain significance 67802 rs199473595 GRCh37: 3:38616898-38616898
GRCh38: 3:38575407-38575407
22 SCN5A NM_000335.5(SCN5A):c.*662C>T SNV Uncertain significance 901879 GRCh37: 3:38591150-38591150
GRCh38: 3:38549659-38549659
23 SCN5A NM_000335.5(SCN5A):c.*475T>C SNV Uncertain significance 901941 GRCh37: 3:38591337-38591337
GRCh38: 3:38549846-38549846
24 SCN5A NM_198056.2(SCN5A):c.6017C>G (p.Pro2006Arg) SNV Uncertain significance 68025 rs199473338 GRCh37: 3:38591846-38591846
GRCh38: 3:38550355-38550355
25 SCN5A NM_000335.5(SCN5A):c.*2007G>A SNV Uncertain significance 902319 GRCh37: 3:38589805-38589805
GRCh38: 3:38548314-38548314
26 SCN5A NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) SNV Uncertain significance 48284 rs144511230 GRCh37: 3:38646297-38646297
GRCh38: 3:38604806-38604806
27 SCN5A NM_000335.5(SCN5A):c.*1802G>A SNV Uncertain significance 902395 GRCh37: 3:38590010-38590010
GRCh38: 3:38548519-38548519
28 SCN5A NM_000335.5(SCN5A):c.5250C>T (p.Phe1750=) SNV Uncertain significance 902396 GRCh37: 3:38592610-38592610
GRCh38: 3:38551119-38551119
29 SCN5A NM_000335.5(SCN5A):c.*1166G>A SNV Uncertain significance 900862 GRCh37: 3:38590646-38590646
GRCh38: 3:38549155-38549155
30 SCN5A NM_000335.5(SCN5A):c.*1060G>A SNV Uncertain significance 902600 GRCh37: 3:38590752-38590752
GRCh38: 3:38549261-38549261
31 SCN5A NM_198056.2(SCN5A):c.4170C>T (p.Thr1390=) SNV Uncertain significance 518780 rs747356664 GRCh37: 3:38601713-38601713
GRCh38: 3:38560222-38560222
32 SCN5A NM_000335.5(SCN5A):c.*659C>T SNV Uncertain significance 902779 GRCh37: 3:38591153-38591153
GRCh38: 3:38549662-38549662
33 LOC110121269 , SCN5A NM_000335.5(SCN5A):c.2945G>A (p.Cys982Tyr) SNV Uncertain significance 901880 GRCh37: 3:38622705-38622705
GRCh38: 3:38581214-38581214
34 SCN5A NM_000335.5(SCN5A):c.2437-13C>T SNV Uncertain significance 165150 rs45455099 GRCh37: 3:38627545-38627545
GRCh38: 3:38586054-38586054
35 SCN5A NM_000335.5(SCN5A):c.*131G>A SNV Uncertain significance 900347 GRCh37: 3:38591681-38591681
GRCh38: 3:38550190-38550190
36 SCN5A NM_198056.2(SCN5A):c.2038C>T (p.Arg680Cys) SNV Uncertain significance 569341 rs376173627 GRCh37: 3:38639444-38639444
GRCh38: 3:38597953-38597953
37 SCN5A NM_198056.2(SCN5A):c.5968G>C (p.Val1990Leu) SNV Uncertain significance 630571 rs765885732 GRCh37: 3:38591895-38591895
GRCh38: 3:38550404-38550404
38 SCN5A NM_000335.5(SCN5A):c.*1743G>A SNV Uncertain significance 903251 GRCh37: 3:38590069-38590069
GRCh38: 3:38548578-38548578
39 SCN5A NM_000335.5(SCN5A):c.5218G>A (p.Asp1740Asn) SNV Uncertain significance 903252 GRCh37: 3:38592642-38592642
GRCh38: 3:38551151-38551151
40 SCN5A NM_198056.2(SCN5A):c.1051G>A (p.Gly351Ser) SNV Uncertain significance 406421 rs201276017 GRCh37: 3:38648249-38648249
GRCh38: 3:38606758-38606758
41 DPP6 NM_130797.4(DPP6):c.1714+1G>T SNV Uncertain significance 587527 rs1563285184 GRCh37: 7:154645538-154645538
GRCh38: 7:154853828-154853828
42 SCN5A NM_198056.2(SCN5A):c.5795C>T (p.Ala1932Val) SNV Uncertain significance 582721 rs371194826 GRCh37: 3:38592068-38592068
GRCh38: 3:38550577-38550577
43 SCN5A NM_000335.5(SCN5A):c.5783G>A (p.Arg1928His) SNV Uncertain significance 179372 rs727504822 GRCh37: 3:38592077-38592077
GRCh38: 3:38550586-38550586
44 SCN5A NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr) SNV Uncertain significance 67802 rs199473595 GRCh37: 3:38616898-38616898
GRCh38: 3:38575407-38575407
45 LOC110121269 , SCN5A NM_198056.2(SCN5A):c.3118G>A (p.Gly1040Arg) SNV Uncertain significance 67779 rs199473186 GRCh37: 3:38622532-38622532
GRCh38: 3:38581041-38581041
46 LOC110121269 , SCN5A NM_198056.2(SCN5A):c.3080G>A (p.Arg1027Gln) SNV Uncertain significance 520458 rs763891399 GRCh37: 3:38622570-38622570
GRCh38: 3:38581079-38581079
47 SCN5A NM_000335.5(SCN5A):c.152C>T (p.Ala51Val) SNV Uncertain significance 179791 rs727505131 GRCh37: 3:38674647-38674647
GRCh38: 3:38633156-38633156
48 SCN5A NM_198056.2(SCN5A):c.5938G>T (p.Val1980Phe) SNV Uncertain significance 520462 rs772258197 GRCh37: 3:38591925-38591925
GRCh38: 3:38550434-38550434
49 SCN5A NM_000335.5(SCN5A):c.5847C>T (p.Tyr1949=) SNV Uncertain significance 704320 rs367778922 GRCh37: 3:38592013-38592013
GRCh38: 3:38550522-38550522
50 SCN5A NM_000335.5(SCN5A):c.5485C>A (p.Pro1829Thr) SNV Uncertain significance 899510 GRCh37: 3:38592375-38592375
GRCh38: 3:38550884-38550884

Expression for Idiopathic Ventricular Fibrillation, Non Brugada Type

Search GEO for disease gene expression data for Idiopathic Ventricular Fibrillation, Non Brugada Type.

Pathways for Idiopathic Ventricular Fibrillation, Non Brugada Type

Pathways related to Idiopathic Ventricular Fibrillation, Non Brugada Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.16 SCN5A RYR2 CACNA1C
2
Show member pathways
11.75 RYR2 CACNA1C
3 11.67 SCN5A RYR2
4
Show member pathways
11.63 SCN5A RYR2 CACNA1C
5 11.62 RYR2 CACNA1C
6 11.56 RYR2 CACNA1C
7 11.31 RYR2 CACNA1C
8
Show member pathways
11.2 SCN5A CACNA1C
9 10.85 RYR2 CACNA1C
10 10.55 SCN5A RYR2 CACNA1C

GO Terms for Idiopathic Ventricular Fibrillation, Non Brugada Type

Cellular components related to Idiopathic Ventricular Fibrillation, Non Brugada Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 9.16 SCN5A CACNA1C
2 Z disc GO:0030018 9.13 SCN5A RYR2 CACNA1C
3 sarcolemma GO:0042383 8.8 SCN5A RYR2 CACNA1C

Biological processes related to Idiopathic Ventricular Fibrillation, Non Brugada Type according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.72 SCN5A RYR2 CACNA1C
2 transmembrane transport GO:0055085 9.71 SCN5A RYR2 CACNA1C
3 regulation of ion transmembrane transport GO:0034765 9.58 SCN5A CACNA1C
4 calcium ion transport GO:0006816 9.57 RYR2 CACNA1C
5 calcium ion transmembrane transport GO:0070588 9.56 RYR2 CACNA1C
6 cardiac conduction GO:0061337 9.52 SCN5A CACNA1C
7 cardiac muscle contraction GO:0060048 9.51 SCN5A RYR2
8 regulation of heart rate by cardiac conduction GO:0086091 9.49 SCN5A CACNA1C
9 regulation of heart rate GO:0002027 9.48 SCN5A RYR2
10 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.46 RYR2 CACNA1C
11 ventricular cardiac muscle cell action potential GO:0086005 9.43 SCN5A RYR2
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.4 SCN5A CACNA1C
13 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.37 RYR2 CACNA1C
14 calcium ion transport into cytosol GO:0060402 9.32 RYR2 CACNA1C
15 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.26 SCN5A CACNA1C
16 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.16 RYR2 CACNA1C
17 membrane depolarization during AV node cell action potential GO:0086045 8.96 SCN5A CACNA1C
18 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 8.62 SCN5A CACNA1C

Molecular functions related to Idiopathic Ventricular Fibrillation, Non Brugada Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.32 SCN5A CACNA1C
2 ion channel binding GO:0044325 9.26 SCN5A RYR2
3 calcium channel activity GO:0005262 9.16 RYR2 CACNA1C
4 calmodulin binding GO:0005516 9.13 SCN5A RYR2 CACNA1C
5 ion channel activity GO:0005216 8.8 SCN5A RYR2 CACNA1C

Sources for Idiopathic Ventricular Fibrillation, Non Brugada Type

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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