MCID: FML272
MIFTS: 27

Familial Sick Sinus Syndrome

Categories: Cardiovascular diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Familial Sick Sinus Syndrome

MalaCards integrated aliases for Familial Sick Sinus Syndrome:

Name: Familial Sick Sinus Syndrome 53 59 73
Familial Sinus Node Dysfunction 53 59

Characteristics:

Orphanet epidemiological data:

59
familial sick sinus syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

Orphanet 59 ORPHA166282
ICD10 via Orphanet 34 I49.5
MESH via Orphanet 45 D012804
UMLS via Orphanet 74 C0037052
UMLS 73 C0340491

Summaries for Familial Sick Sinus Syndrome

MalaCards based summary : Familial Sick Sinus Syndrome, also known as familial sinus node dysfunction, is related to sick sinus syndrome and sinoatrial node disease. An important gene associated with Familial Sick Sinus Syndrome is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Antiarrhythmic Pathway, Pharmacodynamics and Cardiac Progenitor Differentiation. Affiliated tissues include heart, and related phenotypes are cardiovascular system and muscle

Related Diseases for Familial Sick Sinus Syndrome

Graphical network of the top 20 diseases related to Familial Sick Sinus Syndrome:



Diseases related to Familial Sick Sinus Syndrome

Symptoms & Phenotypes for Familial Sick Sinus Syndrome

MGI Mouse Phenotypes related to Familial Sick Sinus Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.26 AGT HCN4 MYH6 SCN5A
2 muscle MP:0005369 8.92 AGT HCN4 MYH6 SCN5A

Drugs & Therapeutics for Familial Sick Sinus Syndrome

Search Clinical Trials , NIH Clinical Center for Familial Sick Sinus Syndrome

Genetic Tests for Familial Sick Sinus Syndrome

Anatomical Context for Familial Sick Sinus Syndrome

MalaCards organs/tissues related to Familial Sick Sinus Syndrome:

41
Heart

Publications for Familial Sick Sinus Syndrome

Articles related to Familial Sick Sinus Syndrome:

# Title Authors Year
1
Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics. ( 24762805 )
2014
2
A novel SCN5A mutation demonstrating a variety of clinical phenotypes in familial sick sinus syndrome. ( 23955615 )
2013
3
Familial sick sinus syndrome. ( 24172807 )
2013
4
Promoter polymorphism G-6A, which modulates angiotensinogen gene expression, is associated with non-familial sick sinus syndrome. ( 22242192 )
2012
5
Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome. ( 20539757 )
2010
6
Familial sick sinus syndrome complicated by extensive cardiac conduction disturbance. ( 15094010 )
2004
7
Familial sick sinus syndrome with atrioventricular conduction disturbance. ( 9805265 )
1998
8
Familial sick sinus syndrome in two siblings. ( 8236519 )
1993

Variations for Familial Sick Sinus Syndrome

ClinVar genetic disease variations for Familial Sick Sinus Syndrome:

6 (show top 50) (show all 220)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh37 Chromosome 3, 38620907: 38620907
2 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh38 Chromosome 3, 38579416: 38579416
3 SCN5A NM_000335.4(SCN5A): c.3890C> T (p.Pro1297Leu) single nucleotide variant Pathogenic rs28937319 GRCh37 Chromosome 3, 38603976: 38603976
4 SCN5A NM_000335.4(SCN5A): c.3890C> T (p.Pro1297Leu) single nucleotide variant Pathogenic rs28937319 GRCh38 Chromosome 3, 38562485: 38562485
5 SCN5A NM_198056.2(SCN5A): c.1673A> G (p.His558Arg) single nucleotide variant Benign/Likely benign rs1805124 GRCh37 Chromosome 3, 38645420: 38645420
6 SCN5A NM_198056.2(SCN5A): c.1673A> G (p.His558Arg) single nucleotide variant Benign/Likely benign rs1805124 GRCh38 Chromosome 3, 38603929: 38603929
7 SCN5A NM_000335.4(SCN5A): c.2436+12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41312419 GRCh37 Chromosome 3, 38628879: 38628879
8 SCN5A NM_000335.4(SCN5A): c.2436+12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41312419 GRCh38 Chromosome 3, 38587388: 38587388
9 SCN5A NM_198056.2(SCN5A): c.4437+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs148598985 GRCh37 Chromosome 3, 38597919: 38597919
10 SCN5A NM_198056.2(SCN5A): c.4437+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs148598985 GRCh38 Chromosome 3, 38556428: 38556428
11 SCN5A NM_198056.2(SCN5A): c.100C> T (p.Arg34Cys) single nucleotide variant Benign/Likely benign rs6791924 GRCh37 Chromosome 3, 38674699: 38674699
12 SCN5A NM_198056.2(SCN5A): c.100C> T (p.Arg34Cys) single nucleotide variant Benign/Likely benign rs6791924 GRCh38 Chromosome 3, 38633208: 38633208
13 SCN5A NM_198056.2(SCN5A): c.1141-3C> A single nucleotide variant Benign/Likely benign rs41312433 GRCh37 Chromosome 3, 38647642: 38647642
14 SCN5A NM_198056.2(SCN5A): c.1141-3C> A single nucleotide variant Benign/Likely benign rs41312433 GRCh38 Chromosome 3, 38606151: 38606151
15 SCN5A NM_198056.2(SCN5A): c.1302C> T (p.Phe434=) single nucleotide variant Benign/Likely benign rs41313699 GRCh37 Chromosome 3, 38647478: 38647478
16 SCN5A NM_198056.2(SCN5A): c.1302C> T (p.Phe434=) single nucleotide variant Benign/Likely benign rs41313699 GRCh38 Chromosome 3, 38605987: 38605987
17 SCN5A NM_198056.2(SCN5A): c.1681C> T (p.Leu561=) single nucleotide variant Conflicting interpretations of pathogenicity rs45522138 GRCh37 Chromosome 3, 38645412: 38645412
18 SCN5A NM_198056.2(SCN5A): c.1681C> T (p.Leu561=) single nucleotide variant Conflicting interpretations of pathogenicity rs45522138 GRCh38 Chromosome 3, 38603921: 38603921
19 SCN5A NM_198056.2(SCN5A): c.2788-6C> T single nucleotide variant Benign/Likely benign rs41260344 GRCh37 Chromosome 3, 38622868: 38622868
20 SCN5A NM_198056.2(SCN5A): c.2788-6C> T single nucleotide variant Benign/Likely benign rs41260344 GRCh38 Chromosome 3, 38581377: 38581377
21 SCN5A NM_198056.2(SCN5A): c.3183A> G (p.Glu1061=) single nucleotide variant Benign/Likely benign rs7430407 GRCh37 Chromosome 3, 38622467: 38622467
22 SCN5A NM_198056.2(SCN5A): c.3183A> G (p.Glu1061=) single nucleotide variant Benign/Likely benign rs7430407 GRCh38 Chromosome 3, 38580976: 38580976
23 SCN5A NM_198056.2(SCN5A): c.3363G> A (p.Ala1121=) single nucleotide variant Conflicting interpretations of pathogenicity rs9858585 GRCh37 Chromosome 3, 38620852: 38620852
24 SCN5A NM_198056.2(SCN5A): c.3363G> A (p.Ala1121=) single nucleotide variant Conflicting interpretations of pathogenicity rs9858585 GRCh38 Chromosome 3, 38579361: 38579361
25 SCN5A NM_000335.4(SCN5A): c.4845C> T (p.Phe1615=) single nucleotide variant Benign/Likely benign rs41315495 GRCh37 Chromosome 3, 38593015: 38593015
26 SCN5A NM_000335.4(SCN5A): c.4845C> T (p.Phe1615=) single nucleotide variant Benign/Likely benign rs41315495 GRCh38 Chromosome 3, 38551524: 38551524
27 SCN5A NM_198056.2(SCN5A): c.5457T> C (p.Asp1819=) single nucleotide variant Benign/Likely benign rs1805126 GRCh37 Chromosome 3, 38592406: 38592406
28 SCN5A NM_198056.2(SCN5A): c.5457T> C (p.Asp1819=) single nucleotide variant Benign/Likely benign rs1805126 GRCh38 Chromosome 3, 38550915: 38550915
29 SCN5A NM_000335.4(SCN5A): c.5841C> T (p.Ile1947=) single nucleotide variant Benign/Likely benign rs13324293 GRCh37 Chromosome 3, 38592019: 38592019
30 SCN5A NM_000335.4(SCN5A): c.5841C> T (p.Ile1947=) single nucleotide variant Benign/Likely benign rs13324293 GRCh38 Chromosome 3, 38550528: 38550528
31 SCN5A NM_198056.2(SCN5A): c.87A> G (p.Ala29=) single nucleotide variant Benign/Likely benign rs6599230 GRCh37 Chromosome 3, 38674712: 38674712
32 SCN5A NM_198056.2(SCN5A): c.87A> G (p.Ala29=) single nucleotide variant Benign/Likely benign rs6599230 GRCh38 Chromosome 3, 38633221: 38633221
33 SCN5A NM_198056.2(SCN5A): c.1715C> A (p.Ala572Asp) single nucleotide variant Benign/Likely benign rs36210423 GRCh37 Chromosome 3, 38645378: 38645378
34 SCN5A NM_198056.2(SCN5A): c.1715C> A (p.Ala572Asp) single nucleotide variant Benign/Likely benign rs36210423 GRCh38 Chromosome 3, 38603887: 38603887
35 SCN5A NM_198056.2(SCN5A): c.21T> A (p.Pro7=) single nucleotide variant Conflicting interpretations of pathogenicity rs587781157 GRCh37 Chromosome 3, 38674778: 38674778
36 SCN5A NM_198056.2(SCN5A): c.21T> A (p.Pro7=) single nucleotide variant Conflicting interpretations of pathogenicity rs587781157 GRCh38 Chromosome 3, 38633287: 38633287
37 SCN5A NM_198056.2(SCN5A): c.1044C> T (p.Pro348=) single nucleotide variant Conflicting interpretations of pathogenicity rs370346797 GRCh37 Chromosome 3, 38648256: 38648256
38 SCN5A NM_198056.2(SCN5A): c.1044C> T (p.Pro348=) single nucleotide variant Conflicting interpretations of pathogenicity rs370346797 GRCh38 Chromosome 3, 38606765: 38606765
39 SCN5A NM_198056.2(SCN5A): c.1743G> A (p.Ser581=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313687 GRCh37 Chromosome 3, 38645350: 38645350
40 SCN5A NM_198056.2(SCN5A): c.1743G> A (p.Ser581=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313687 GRCh38 Chromosome 3, 38603859: 38603859
41 SCN5A NM_198056.2(SCN5A): c.2437-5C> A single nucleotide variant Conflicting interpretations of pathogenicity rs72549411 GRCh37 Chromosome 3, 38627537: 38627537
42 SCN5A NM_198056.2(SCN5A): c.2437-5C> A single nucleotide variant Conflicting interpretations of pathogenicity rs72549411 GRCh38 Chromosome 3, 38586046: 38586046
43 SCN5A NM_198056.2(SCN5A): c.3873G> A (p.Leu1291=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313033 GRCh37 Chromosome 3, 38603996: 38603996
44 SCN5A NM_198056.2(SCN5A): c.3873G> A (p.Leu1291=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313033 GRCh38 Chromosome 3, 38562505: 38562505
45 SCN5A NM_198056.2(SCN5A): c.1569T> A (p.Arg523=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313693 GRCh37 Chromosome 3, 38645524: 38645524
46 SCN5A NM_198056.2(SCN5A): c.1569T> A (p.Arg523=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313693 GRCh38 Chromosome 3, 38604033: 38604033
47 SCN5A NM_198056.2(SCN5A): c.6003C> T (p.Leu2001=) single nucleotide variant Conflicting interpretations of pathogenicity rs538707712 GRCh37 Chromosome 3, 38591860: 38591860
48 SCN5A NM_198056.2(SCN5A): c.6003C> T (p.Leu2001=) single nucleotide variant Conflicting interpretations of pathogenicity rs538707712 GRCh38 Chromosome 3, 38550369: 38550369
49 SCN5A NM_198056.2(SCN5A): c.4824C> T (p.Leu1608=) single nucleotide variant Conflicting interpretations of pathogenicity rs45437099 GRCh37 Chromosome 3, 38593039: 38593039
50 SCN5A NM_198056.2(SCN5A): c.4824C> T (p.Leu1608=) single nucleotide variant Conflicting interpretations of pathogenicity rs45437099 GRCh38 Chromosome 3, 38551548: 38551548

Expression for Familial Sick Sinus Syndrome

Search GEO for disease gene expression data for Familial Sick Sinus Syndrome.

Pathways for Familial Sick Sinus Syndrome

Pathways related to Familial Sick Sinus Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.7 HCN4 SCN5A
2 10.35 MYH6 SCN5A

GO Terms for Familial Sick Sinus Syndrome

Cellular components related to Familial Sick Sinus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.62 MYH6 SCN5A

Biological processes related to Familial Sick Sinus Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.49 HCN4 SCN5A
2 sodium ion transport GO:0006814 9.48 HCN4 SCN5A
3 muscle contraction GO:0006936 9.46 HCN4 MYH6
4 sodium ion transmembrane transport GO:0035725 9.43 HCN4 SCN5A
5 regulation of blood pressure GO:0008217 9.4 AGT MYH6
6 cardiac muscle contraction GO:0060048 9.37 MYH6 SCN5A
7 regulation of heart rate by cardiac conduction GO:0086091 9.32 HCN4 SCN5A
8 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.26 HCN4 SCN5A
9 SA node cell action potential GO:0086015 9.16 HCN4 SCN5A
10 membrane depolarization during SA node cell action potential GO:0086046 8.96 HCN4 SCN5A
11 regulation of heart rate GO:0002027 8.92 AGT HCN4 MYH6 SCN5A

Molecular functions related to Familial Sick Sinus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.32 MYH6 SCN5A
2 ion channel activity GO:0005216 9.26 HCN4 SCN5A
3 voltage-gated ion channel activity GO:0005244 9.16 HCN4 SCN5A
4 sodium channel activity GO:0005272 8.96 HCN4 SCN5A
5 voltage-gated sodium channel activity GO:0005248 8.62 HCN4 SCN5A

Sources for Familial Sick Sinus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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45 MESH via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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