MCID: FML250
MIFTS: 31

Familial Progressive Cardiac Conduction Defect

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Familial Progressive Cardiac Conduction Defect

MalaCards integrated aliases for Familial Progressive Cardiac Conduction Defect:

Name: Familial Progressive Cardiac Conduction Defect 53 59
Familial Progressive Heart Block 53 59
Hereditary Bundle Branch Defect 53 59
Familial Lev-Lenègre Disease 53 59
Familial Lenègre Disease 53 59
Familial Lev Disease 53 59
Familial Pccd 53 59
Hereditary Bundle Branch System Defect 73
Progressive Familial Heart Block 53

Characteristics:

Orphanet epidemiological data:

59
familial progressive cardiac conduction defect
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: elderly;

Classifications:



External Ids:

Orphanet 59 ORPHA871
UMLS via Orphanet 74 C1879286
ICD10 via Orphanet 34 I45.8
SNOMED-CT via HPO 69 102594003 44808001 698247007
UMLS 73 C1879286

Summaries for Familial Progressive Cardiac Conduction Defect

NIH Rare Diseases : 53 Familial progressive cardiac conduction defect (PCCD) is a is a cardiac (heart) conduction disorder that may progress to complete heart block. Affected people may not have any symptoms, or the condition may cause shortness of breath, dizziness, fainting, abdominal pain, heart failure, or sudden death. Mutations in several genes, including the SCN5A, SCN1B and TRPM4 genes, can cause PCCD. Several other genes may be the cause when PCCD occurs with congenital heart disease. Familial PCCD is usually inherited in an autosomal dominant manner. However, not all people that have the mutated gene will have the condition; in those that do, symptoms and severity can vary (known as reduced penetrance and variable expressivity). Autosomal recessive inheritance and sporadic cases have been reported, but are rare. Treatment includes implantation of a pacemaker.

MalaCards based summary : Familial Progressive Cardiac Conduction Defect, also known as familial progressive heart block, is related to progressive familial heart block and atrial standstill 1, and has symptoms including dyspnea and syncopal episode. An important gene associated with Familial Progressive Cardiac Conduction Defect is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Cardiac conduction and Aldosterone synthesis and secretion. Affiliated tissues include heart, and related phenotypes are arrhythmia and no phenotypic analysis

Related Diseases for Familial Progressive Cardiac Conduction Defect

Graphical network of the top 20 diseases related to Familial Progressive Cardiac Conduction Defect:



Diseases related to Familial Progressive Cardiac Conduction Defect

Symptoms & Phenotypes for Familial Progressive Cardiac Conduction Defect

Human phenotypes related to Familial Progressive Cardiac Conduction Defect:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0011675

UMLS symptoms related to Familial Progressive Cardiac Conduction Defect:


dyspnea, syncopal episode

MGI Mouse Phenotypes related to Familial Progressive Cardiac Conduction Defect:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.8 NKX2-5 SCN1B TRPM4

Drugs & Therapeutics for Familial Progressive Cardiac Conduction Defect

Search Clinical Trials , NIH Clinical Center for Familial Progressive Cardiac Conduction Defect

Genetic Tests for Familial Progressive Cardiac Conduction Defect

Anatomical Context for Familial Progressive Cardiac Conduction Defect

MalaCards organs/tissues related to Familial Progressive Cardiac Conduction Defect:

41
Heart

Publications for Familial Progressive Cardiac Conduction Defect

Articles related to Familial Progressive Cardiac Conduction Defect:

# Title Authors Year
1
Hereditary bundle branch system defect. A new genetic entity? ( 433748 )
1979
2
Hereditary bundle branch system defect: survey of a family with four affected generations. ( 619595 )
1978

Variations for Familial Progressive Cardiac Conduction Defect

ClinVar genetic disease variations for Familial Progressive Cardiac Conduction Defect:

6 (show top 50) (show all 308)
# 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_198056.2(SCN5A): c.1673A> G (p.His558Arg) single nucleotide variant Benign/Likely benign rs1805124 GRCh37 Chromosome 3, 38645420: 38645420
4 SCN5A NM_198056.2(SCN5A): c.1673A> G (p.His558Arg) single nucleotide variant Benign/Likely benign rs1805124 GRCh38 Chromosome 3, 38603929: 38603929
5 SCN5A NM_000335.4(SCN5A): c.2436+12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41312419 GRCh37 Chromosome 3, 38628879: 38628879
6 SCN5A NM_000335.4(SCN5A): c.2436+12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41312419 GRCh38 Chromosome 3, 38587388: 38587388
7 SCN5A NM_198056.2(SCN5A): c.4437+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs148598985 GRCh37 Chromosome 3, 38597919: 38597919
8 SCN5A NM_198056.2(SCN5A): c.4437+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs148598985 GRCh38 Chromosome 3, 38556428: 38556428
9 SCN5A NM_198056.2(SCN5A): c.100C> T (p.Arg34Cys) single nucleotide variant Benign/Likely benign rs6791924 GRCh37 Chromosome 3, 38674699: 38674699
10 SCN5A NM_198056.2(SCN5A): c.100C> T (p.Arg34Cys) single nucleotide variant Benign/Likely benign rs6791924 GRCh38 Chromosome 3, 38633208: 38633208
11 SCN5A NM_198056.2(SCN5A): c.1141-3C> A single nucleotide variant Benign/Likely benign rs41312433 GRCh37 Chromosome 3, 38647642: 38647642
12 SCN5A NM_198056.2(SCN5A): c.1141-3C> A single nucleotide variant Benign/Likely benign rs41312433 GRCh38 Chromosome 3, 38606151: 38606151
13 SCN5A NM_198056.2(SCN5A): c.1302C> T (p.Phe434=) single nucleotide variant Benign/Likely benign rs41313699 GRCh37 Chromosome 3, 38647478: 38647478
14 SCN5A NM_198056.2(SCN5A): c.1302C> T (p.Phe434=) single nucleotide variant Benign/Likely benign rs41313699 GRCh38 Chromosome 3, 38605987: 38605987
15 SCN5A NM_198056.2(SCN5A): c.1681C> T (p.Leu561=) single nucleotide variant Conflicting interpretations of pathogenicity rs45522138 GRCh37 Chromosome 3, 38645412: 38645412
16 SCN5A NM_198056.2(SCN5A): c.1681C> T (p.Leu561=) single nucleotide variant Conflicting interpretations of pathogenicity rs45522138 GRCh38 Chromosome 3, 38603921: 38603921
17 SCN5A NM_198056.2(SCN5A): c.2788-6C> T single nucleotide variant Benign/Likely benign rs41260344 GRCh37 Chromosome 3, 38622868: 38622868
18 SCN5A NM_198056.2(SCN5A): c.2788-6C> T single nucleotide variant Benign/Likely benign rs41260344 GRCh38 Chromosome 3, 38581377: 38581377
19 SCN5A NM_198056.2(SCN5A): c.3183A> G (p.Glu1061=) single nucleotide variant Benign/Likely benign rs7430407 GRCh37 Chromosome 3, 38622467: 38622467
20 SCN5A NM_198056.2(SCN5A): c.3183A> G (p.Glu1061=) single nucleotide variant Benign/Likely benign rs7430407 GRCh38 Chromosome 3, 38580976: 38580976
21 SCN5A NM_198056.2(SCN5A): c.3363G> A (p.Ala1121=) single nucleotide variant Conflicting interpretations of pathogenicity rs9858585 GRCh37 Chromosome 3, 38620852: 38620852
22 SCN5A NM_198056.2(SCN5A): c.3363G> A (p.Ala1121=) single nucleotide variant Conflicting interpretations of pathogenicity rs9858585 GRCh38 Chromosome 3, 38579361: 38579361
23 SCN5A NM_000335.4(SCN5A): c.4845C> T (p.Phe1615=) single nucleotide variant Benign/Likely benign rs41315495 GRCh37 Chromosome 3, 38593015: 38593015
24 SCN5A NM_000335.4(SCN5A): c.4845C> T (p.Phe1615=) single nucleotide variant Benign/Likely benign rs41315495 GRCh38 Chromosome 3, 38551524: 38551524
25 SCN5A NM_198056.2(SCN5A): c.5457T> C (p.Asp1819=) single nucleotide variant Benign/Likely benign rs1805126 GRCh37 Chromosome 3, 38592406: 38592406
26 SCN5A NM_198056.2(SCN5A): c.5457T> C (p.Asp1819=) single nucleotide variant Benign/Likely benign rs1805126 GRCh38 Chromosome 3, 38550915: 38550915
27 SCN5A NM_000335.4(SCN5A): c.5841C> T (p.Ile1947=) single nucleotide variant Benign/Likely benign rs13324293 GRCh37 Chromosome 3, 38592019: 38592019
28 SCN5A NM_000335.4(SCN5A): c.5841C> T (p.Ile1947=) single nucleotide variant Benign/Likely benign rs13324293 GRCh38 Chromosome 3, 38550528: 38550528
29 SCN5A NM_198056.2(SCN5A): c.87A> G (p.Ala29=) single nucleotide variant Benign/Likely benign rs6599230 GRCh37 Chromosome 3, 38674712: 38674712
30 SCN5A NM_198056.2(SCN5A): c.87A> G (p.Ala29=) single nucleotide variant Benign/Likely benign rs6599230 GRCh38 Chromosome 3, 38633221: 38633221
31 SCN5A NM_198056.2(SCN5A): c.1715C> A (p.Ala572Asp) single nucleotide variant Benign/Likely benign rs36210423 GRCh37 Chromosome 3, 38645378: 38645378
32 SCN5A NM_198056.2(SCN5A): c.1715C> A (p.Ala572Asp) single nucleotide variant Benign/Likely benign rs36210423 GRCh38 Chromosome 3, 38603887: 38603887
33 SCN5A NM_198056.2(SCN5A): c.21T> A (p.Pro7=) single nucleotide variant Conflicting interpretations of pathogenicity rs587781157 GRCh37 Chromosome 3, 38674778: 38674778
34 SCN5A NM_198056.2(SCN5A): c.21T> A (p.Pro7=) single nucleotide variant Conflicting interpretations of pathogenicity rs587781157 GRCh38 Chromosome 3, 38633287: 38633287
35 SCN5A NM_198056.2(SCN5A): c.1044C> T (p.Pro348=) single nucleotide variant Conflicting interpretations of pathogenicity rs370346797 GRCh37 Chromosome 3, 38648256: 38648256
36 SCN5A NM_198056.2(SCN5A): c.1044C> T (p.Pro348=) single nucleotide variant Conflicting interpretations of pathogenicity rs370346797 GRCh38 Chromosome 3, 38606765: 38606765
37 SCN5A NM_198056.2(SCN5A): c.1743G> A (p.Ser581=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313687 GRCh37 Chromosome 3, 38645350: 38645350
38 SCN5A NM_198056.2(SCN5A): c.1743G> A (p.Ser581=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313687 GRCh38 Chromosome 3, 38603859: 38603859
39 SCN5A NM_198056.2(SCN5A): c.2437-5C> A single nucleotide variant Conflicting interpretations of pathogenicity rs72549411 GRCh37 Chromosome 3, 38627537: 38627537
40 SCN5A NM_198056.2(SCN5A): c.2437-5C> A single nucleotide variant Conflicting interpretations of pathogenicity rs72549411 GRCh38 Chromosome 3, 38586046: 38586046
41 SCN5A NM_198056.2(SCN5A): c.3873G> A (p.Leu1291=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313033 GRCh37 Chromosome 3, 38603996: 38603996
42 SCN5A NM_198056.2(SCN5A): c.3873G> A (p.Leu1291=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313033 GRCh38 Chromosome 3, 38562505: 38562505
43 SCN5A NM_198056.2(SCN5A): c.1569T> A (p.Arg523=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313693 GRCh37 Chromosome 3, 38645524: 38645524
44 SCN5A NM_198056.2(SCN5A): c.1569T> A (p.Arg523=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313693 GRCh38 Chromosome 3, 38604033: 38604033
45 SCN5A NM_198056.2(SCN5A): c.6003C> T (p.Leu2001=) single nucleotide variant Conflicting interpretations of pathogenicity rs538707712 GRCh37 Chromosome 3, 38591860: 38591860
46 SCN5A NM_198056.2(SCN5A): c.6003C> T (p.Leu2001=) single nucleotide variant Conflicting interpretations of pathogenicity rs538707712 GRCh38 Chromosome 3, 38550369: 38550369
47 SCN5A NM_198056.2(SCN5A): c.4824C> T (p.Leu1608=) single nucleotide variant Conflicting interpretations of pathogenicity rs45437099 GRCh37 Chromosome 3, 38593039: 38593039
48 SCN5A NM_198056.2(SCN5A): c.4824C> T (p.Leu1608=) single nucleotide variant Conflicting interpretations of pathogenicity rs45437099 GRCh38 Chromosome 3, 38551548: 38551548
49 SCN5A NM_198056.2(SCN5A): c.1068T> C (p.Asp356=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313703 GRCh37 Chromosome 3, 38648232: 38648232
50 SCN5A NM_198056.2(SCN5A): c.1068T> C (p.Asp356=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313703 GRCh38 Chromosome 3, 38606741: 38606741

Expression for Familial Progressive Cardiac Conduction Defect

Search GEO for disease gene expression data for Familial Progressive Cardiac Conduction Defect.

Pathways for Familial Progressive Cardiac Conduction Defect

GO Terms for Familial Progressive Cardiac Conduction Defect

Cellular components related to Familial Progressive Cardiac Conduction Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 9.26 SCN1B SCN5A
2 T-tubule GO:0030315 9.16 SCN1B SCN5A
3 voltage-gated sodium channel complex GO:0001518 8.96 SCN1B SCN5A
4 sodium channel complex GO:0034706 8.62 SCN1B TRPM4

Biological processes related to Familial Progressive Cardiac Conduction Defect according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.71 SCN1B SCN5A TRPM4
2 regulation of ion transmembrane transport GO:0034765 9.56 SCN1B SCN5A
3 sodium ion transport GO:0006814 9.55 SCN1B SCN5A
4 sodium ion transmembrane transport GO:0035725 9.52 SCN1B SCN5A
5 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.51 SCN1B SCN5A
6 membrane depolarization GO:0051899 9.49 SCN1B SCN5A
7 cardiac muscle cell action potential involved in contraction GO:0086002 9.48 SCN1B SCN5A
8 cardiac conduction GO:0061337 9.46 SCN1B TRPM4
9 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.43 SCN1B SCN5A
10 cardiac muscle contraction GO:0060048 9.43 NKX2-5 SCN1B SCN5A
11 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.4 SCN1B SCN5A
12 membrane depolarization during AV node cell action potential GO:0086045 9.37 SCN5A TRPM4
13 regulation of heart rate by cardiac conduction GO:0086091 9.33 SCN1B SCN5A TRPM4
14 membrane depolarization during bundle of His cell action potential GO:0086048 9.32 SCN5A TRPM4
15 positive regulation of sodium ion transport GO:0010765 9.13 NKX2-5 SCN1B SCN5A
16 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 8.8 SCN1B SCN5A TRPM4

Molecular functions related to Familial Progressive Cardiac Conduction Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.43 SCN5A TRPM4
2 ion channel activity GO:0005216 9.4 SCN5A TRPM4
3 ion channel binding GO:0044325 9.37 SCN1B SCN5A
4 voltage-gated ion channel activity GO:0005244 9.32 SCN1B SCN5A
5 voltage-gated sodium channel activity GO:0005248 9.26 SCN1B SCN5A
6 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.16 SCN1B SCN5A
7 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 8.96 SCN1B SCN5A
8 sodium channel activity GO:0005272 8.8 SCN1B SCN5A TRPM4

Sources for Familial Progressive Cardiac Conduction Defect

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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