MCID: FML272
MIFTS: 25

Familial Sick Sinus Syndrome

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

Aliases & Classifications for Familial Sick Sinus Syndrome

MalaCards integrated aliases for Familial Sick Sinus Syndrome:

Name: Familial Sick Sinus Syndrome 59 73
Familial Sinus Node Dysfunction 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 familial isolated dilated cardiomyopathy. 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. 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

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 178)
# 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.1569T> A (p.Arg523=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313693 GRCh37 Chromosome 3, 38645524: 38645524
6 SCN5A NM_198056.2(SCN5A): c.1569T> A (p.Arg523=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313693 GRCh38 Chromosome 3, 38604033: 38604033
7 SCN5A NM_198056.2(SCN5A): c.6003C> T (p.Leu2001=) single nucleotide variant Conflicting interpretations of pathogenicity rs538707712 GRCh37 Chromosome 3, 38591860: 38591860
8 SCN5A NM_198056.2(SCN5A): c.6003C> T (p.Leu2001=) single nucleotide variant Conflicting interpretations of pathogenicity rs538707712 GRCh38 Chromosome 3, 38550369: 38550369
9 SCN5A NM_198056.2(SCN5A): c.4824C> T (p.Leu1608=) single nucleotide variant Conflicting interpretations of pathogenicity rs45437099 GRCh37 Chromosome 3, 38593039: 38593039
10 SCN5A NM_198056.2(SCN5A): c.4824C> T (p.Leu1608=) single nucleotide variant Conflicting interpretations of pathogenicity rs45437099 GRCh38 Chromosome 3, 38551548: 38551548
11 SCN5A NM_198056.2(SCN5A): c.1068T> C (p.Asp356=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313703 GRCh37 Chromosome 3, 38648232: 38648232
12 SCN5A NM_198056.2(SCN5A): c.1068T> C (p.Asp356=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313703 GRCh38 Chromosome 3, 38606741: 38606741
13 SCN5A NM_001099404.1(SCN5A): c.1598G> A (p.Arg533His) single nucleotide variant Uncertain significance rs146848219 GRCh37 Chromosome 3, 38645495: 38645495
14 SCN5A NM_001099404.1(SCN5A): c.1598G> A (p.Arg533His) single nucleotide variant Uncertain significance rs146848219 GRCh38 Chromosome 3, 38604004: 38604004
15 SNTA1 NM_003098.2(SNTA1): c.388T> C (p.Phe130Leu) single nucleotide variant Uncertain significance rs199964677 GRCh37 Chromosome 20, 32026755: 32026755
16 SNTA1 NM_003098.2(SNTA1): c.388T> C (p.Phe130Leu) single nucleotide variant Uncertain significance rs199964677 GRCh38 Chromosome 20, 33438949: 33438949
17 SCN5A NM_198056.2(SCN5A): c.4109A> G (p.Asp1370Gly) single nucleotide variant Uncertain significance rs775485359 GRCh37 Chromosome 3, 38601774: 38601774
18 SCN5A NM_198056.2(SCN5A): c.4109A> G (p.Asp1370Gly) single nucleotide variant Uncertain significance rs775485359 GRCh38 Chromosome 3, 38560283: 38560283
19 SCN5A NM_198056.2(SCN5A): c.2956C> T (p.Arg986Trp) single nucleotide variant Uncertain significance rs561547165 GRCh37 Chromosome 3, 38622694: 38622694
20 SCN5A NM_198056.2(SCN5A): c.2956C> T (p.Arg986Trp) single nucleotide variant Uncertain significance rs561547165 GRCh38 Chromosome 3, 38581203: 38581203
21 SCN5A NM_198056.2(SCN5A): c.787G> A (p.Val263Ile) single nucleotide variant Uncertain significance rs752824646 GRCh37 Chromosome 3, 38651372: 38651372
22 SCN5A NM_198056.2(SCN5A): c.787G> A (p.Val263Ile) single nucleotide variant Uncertain significance rs752824646 GRCh38 Chromosome 3, 38609881: 38609881
23 SCN5A NM_001099404.1(SCN5A): c.4267G> A (p.Asp1423Asn) single nucleotide variant Uncertain significance rs746291609 GRCh37 Chromosome 3, 38598754: 38598754
24 SCN5A NM_001099404.1(SCN5A): c.4267G> A (p.Asp1423Asn) single nucleotide variant Uncertain significance rs746291609 GRCh38 Chromosome 3, 38557263: 38557263
25 SCN5A NM_001099404.1(SCN5A): c.1252G> T (p.Glu418Ter) single nucleotide variant Likely pathogenic rs869025519 GRCh38 Chromosome 3, 38606037: 38606037
26 SCN5A NM_001099404.1(SCN5A): c.1252G> T (p.Glu418Ter) single nucleotide variant Likely pathogenic rs869025519 GRCh37 Chromosome 3, 38647528: 38647528
27 SCN5A NM_198056.2(SCN5A): c.5607C> T (p.Asp1869=) single nucleotide variant Conflicting interpretations of pathogenicity rs560476223 GRCh38 Chromosome 3, 38550765: 38550765
28 SCN5A NM_198056.2(SCN5A): c.5607C> T (p.Asp1869=) single nucleotide variant Conflicting interpretations of pathogenicity rs560476223 GRCh37 Chromosome 3, 38592256: 38592256
29 SCN5A NM_198056.2(SCN5A): c.5454C> T (p.Ala1818=) single nucleotide variant Conflicting interpretations of pathogenicity rs370114378 GRCh38 Chromosome 3, 38550918: 38550918
30 SCN5A NM_198056.2(SCN5A): c.5454C> T (p.Ala1818=) single nucleotide variant Conflicting interpretations of pathogenicity rs370114378 GRCh37 Chromosome 3, 38592409: 38592409
31 SCN5A NM_198056.2(SCN5A): c.3542T> C (p.Val1181Ala) single nucleotide variant Uncertain significance rs376965389 GRCh37 Chromosome 3, 38616912: 38616912
32 SCN5A NM_198056.2(SCN5A): c.3542T> C (p.Val1181Ala) single nucleotide variant Uncertain significance rs376965389 GRCh38 Chromosome 3, 38575421: 38575421
33 SCN5A NM_198056.2(SCN5A) insertion Likely benign rs45592631 GRCh38 Chromosome 3, 38548175: 38548176
34 SCN5A NM_198056.2(SCN5A) insertion Likely benign rs45592631 GRCh37 Chromosome 3, 38589666: 38589667
35 SCN5A NM_198056.2(SCN5A): c.*1701G> T single nucleotide variant Uncertain significance rs886058441 GRCh38 Chromosome 3, 38548620: 38548620
36 SCN5A NM_198056.2(SCN5A): c.*1701G> T single nucleotide variant Uncertain significance rs886058441 GRCh37 Chromosome 3, 38590111: 38590111
37 SCN5A NM_198056.2(SCN5A): c.*1602G> T single nucleotide variant Uncertain significance rs886058444 GRCh38 Chromosome 3, 38548719: 38548719
38 SCN5A NM_198056.2(SCN5A): c.*1602G> T single nucleotide variant Uncertain significance rs886058444 GRCh37 Chromosome 3, 38590210: 38590210
39 SCN5A NM_198056.2(SCN5A): c.*1537T> C single nucleotide variant Likely benign rs41315485 GRCh38 Chromosome 3, 38548784: 38548784
40 SCN5A NM_198056.2(SCN5A): c.*1537T> C single nucleotide variant Likely benign rs41315485 GRCh37 Chromosome 3, 38590275: 38590275
41 SCN5A NM_198056.2(SCN5A): c.*1165C> T single nucleotide variant Likely benign rs41313017 GRCh38 Chromosome 3, 38549156: 38549156
42 SCN5A NM_198056.2(SCN5A): c.*1165C> T single nucleotide variant Likely benign rs41313017 GRCh37 Chromosome 3, 38590647: 38590647
43 SCN5A NM_198056.2(SCN5A): c.*1164G> T single nucleotide variant Uncertain significance rs41315489 GRCh38 Chromosome 3, 38549157: 38549157
44 SCN5A NM_198056.2(SCN5A): c.*1164G> T single nucleotide variant Uncertain significance rs41315489 GRCh37 Chromosome 3, 38590648: 38590648
45 SCN5A NM_198056.2(SCN5A): c.*980C> A single nucleotide variant Uncertain significance rs886058449 GRCh38 Chromosome 3, 38549341: 38549341
46 SCN5A NM_198056.2(SCN5A): c.*980C> A single nucleotide variant Uncertain significance rs886058449 GRCh37 Chromosome 3, 38590832: 38590832
47 SCN5A NM_198056.2(SCN5A): c.*963C> T single nucleotide variant Likely benign rs4073796 GRCh38 Chromosome 3, 38549358: 38549358
48 SCN5A NM_198056.2(SCN5A): c.*963C> T single nucleotide variant Likely benign rs4073796 GRCh37 Chromosome 3, 38590849: 38590849
49 SCN5A NM_198056.2(SCN5A): c.*889C> A single nucleotide variant Uncertain significance rs546849670 GRCh38 Chromosome 3, 38549432: 38549432
50 SCN5A NM_198056.2(SCN5A): c.*889C> A single nucleotide variant Uncertain significance rs546849670 GRCh37 Chromosome 3, 38590923: 38590923

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
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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