MCID: CNG018
MIFTS: 50

Congenital Heart Block malady

Cardiovascular category

Summaries for Congenital Heart Block

Sources:
47OMIM, 33MalaCards
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MalaCards: Congenital Heart Block, also known as atrioventricular block, is related to systemic lupus erythematosus and hepatitis c. An important gene associated with Congenital Heart Block is CALR (calreticulin), and among its related pathways is Antiarrhythmic Pathway, Pharmacodynamics. The compounds Tenecteplase and pilocarpine have been mentioned in the context of this disorder. Affiliated tissues include heart, pancreas and t cells, and related mouse phenotypes are cellular and homeostasis/metabolism.

Description from OMIM:47 234700

Aliases & Classifications for Congenital Heart Block

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 35MeSH, 57SNOMED-CT, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular


Characteristics (Orphanet epidemiological data):

49
congenital heart block:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

congenital heart block 8 43 10 45 49 47 61
atrioventricular block 8 61
congenital atrioventricular block 49
heart block congenital 43


External Ids:

Disease Ontology8 DOID:990
OMIM47 234700
MeSH35 C535758
ICD9CM27 746.86
MESH via Orphanet36 C535758
ICD10 via Orphanet26 Q24.6
SNOMED-CT via Orphanet58 46619002
UMLS via Orphanet62 C0149530
ICD1025 Q24.6

Related Diseases for Congenital Heart Block

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the heart block, progressive, type ia family:

congenital heart block progressive familial heart block type 1a
progressive familial heart block type 1b progressive familial heart block type 2

Diseases related to Congenital Heart Block via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 106)
idRelated DiseaseScoreTop Affiliating Genes
1systemic lupus erythematosus30.9CALR, SNRNP70, TROVE2, SSB, TLR7, ENO1
2hepatitis c30.1SRF, CALR, TGIF1
3mixed connective tissue disease30.0SNRNP70
4acute myocardial infarction10.6
5inferior myocardial infarction10.6
6cardiac sarcoidosis10.6
7sick sinus syndrome10.6
8acute myocarditis10.5
9n syndrome10.4
10mobitz type ii atrioventricular block10.4
11kearns-sayre syndrome10.4
12atrioventricular septal defect10.4
13say syndrome10.4
14atrioventricular block10.4
15congenital hypothyroidism10.3
16hydrops fetalis10.3
17hypertrophic cardiomyopathy10.3
18giant cell myocarditis10.3
19cardiogenic shock10.3
20neonatal systemic lupus erythematosus10.2
21aortitis10.2
22bronchogenic cyst10.2
23left ventricular outflow tract obstruction10.2
24familial restrictive cardiomyopathy10.2
25dysautonomia10.2
26rheumatic fever10.1
27cutaneous lupus erythematosus10.1
28dextrocardia10.1
29splenic infarction10.1
30endocardial fibroelastosis10.1
31hepatitis b10.1
32autoimmune hepatitis10.1
33down syndrome10.1
34hepatitis a10.1
35arthritis10.1
36atrial heart septal defect10.1
37ventricular septal defect10.1
38micro syndrome10.1
39short syndrome10.1
40mass syndrome10.1
41hypoxia10.1
42syncope10.1
43hypothyroidism, autoimmune10.1
44ebstein anomaly10.0
45cardiac tamponade10.0
46mitral valve prolapse10.0
47alcohol abuse10.0
48supravalvular aortic stenosis10.0
49gastric dilatation10.0
50lissencephaly10.0

Graphical network of the top 20 diseases related to Congenital Heart Block:



Diseases related to congenital heart block

Clinical Features for Congenital Heart Block

Sources:
47OMIM
See all sources

Clinical features from OMIM:

234700

Clinical synopsis from OMIM:

234700

Drugs & Therapeutics for Congenital Heart Block

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Congenital Heart Block

Drug clinical trials:

Search ClinicalTrials for Congenital Heart Block

Search NIH Clinical Center for Congenital Heart Block

Search CenterWatch for Congenital Heart Block

Genetic Tests for Congenital Heart Block

Anatomical Context for Congenital Heart Block

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Congenital Heart Block:

33
Heart, Pancreas, T cells, B cells, Cardiac myocytes, Atrioventricular node

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Congenital Heart Block:
id TissueAnatomical CompartmentCell Relevance
1 HeartAtrioventricular NodeAtrioventricular Node Cells Affected by disease

Animal Models for Congenital Heart Block or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Congenital Heart Block:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053849.0JMJD6, TGIF1, SRF, PLAUR, TRIM21, TLR7
2MP:00053768.6SRF, PLAUR, TRIM21, CHRM1, TLR7, CALR
3MP:00107688.5TGIF1, COLQ, JMJD6, NLE1, CALR, TLR7

Publications for Congenital Heart Block

Sources:
51PubMed
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Articles related to Congenital Heart Block:

(show top 50)    (show all 284)
idTitleAuthorsYear
1
Left ventricular function and right ventricular pacing for isolated congenital heart block. (23656914)
2013
2
The HLA locus contains novel foetal susceptibility alleles for congenital heart block with significant paternal influence. (24354957)
2013
3
Left ventricular torsional mechanics and diastolic function in congenital heart block with right ventricular pacing. (21481959)
2012
4
A combination therapy to treat second-degree anti-Ro/La-related congenital heart block: a strategy to avoid stable third-degree heart block? (22187163)
2012
5
Rescue and worsening of congenital heart block-associated electrocardiographic abnormalities in two transgenic mice. (21352396)
2011
6
Extrapleural intrathoracic pacemaker for congenital heart block. (21172561)
2011
7
Failure of intravenous immunoglobulin to prevent congenital heart block: Findings of a multicenter, prospective, observational study. (20131278)
2010
8
Immunological contribution to the pathogenesis of congenital heart block. (20696012)
2010
9
Antibodies to amino acid 200-239 (p200) of Ro52 as serological markers for the risk of developing congenital heart block. (18727629)
2008
10
Prevention of congenital heart block in children of SSA-positive mothers. (18504284)
2008
11
Role of hypoxia and cAMP in the transdifferentiation of human fetal cardiac fibroblasts: implications for progression to scarring in autoimmune-associated congenital heart block. (18050204)
2007
12
Effect of steroid administration and plasmapheresis to prevent fetal congenital heart block in patients with systemic lupus erythematosus and/or SjAPgren's syndrome. (17712660)
2007
13
Hypothyroidism and antithyroglobulin and antithyroperoxidase antibodies in the pathogenesis of autoimmune associated congenital heart block. (17014028)
2006
14
Specificity and effector mechanisms of autoantibodies in congenital heart block. (17011766)
2006
15
Autoimmune-associated congenital heart block: treatment of the mother with immunoadsorption. (15828927)
2005
16
Identifying an early marker for congenital heart block: when is a long PR interval too long? Comment on the article by Sonesson et al. (15818705)
2005
17
The eradication of congenital heart block. (15352418)
2004
18
Successful outcome in a fetus with an extremely low heart rate due to isolated complete congenital heart block. (12601845)
2003
19
Myocardial-tissue-specific phenotype of maternal microchimerism in neonatal lupus congenital heart block. (14630442)
2003
20
Maternal autoantibodies and congenital heart block: mediators, markers, and therapeutic approach. (14671725)
2003
21
Subcellular redistribution of la/SSB autoantigen during physiologic apoptosis in the fetal mouse heart and conduction system: a clue to the pathogenesis of congenital heart block. (11817591)
2002
22
Autoantibodies from mothers of children with congenital heart block downregulate cardiac L-type Ca channels. (11444920)
2001
23
Hydrops fetalis with complete heart block secondary to congenital lupus: report of one case. (10910626)
1999
24
Enhanced frequency of autoimmune congenital heart block in female offspring. (10378724)
1999
25
Perinatal monitoring of fetal well-being in the presence of congenital heart block. (10333393)
1998
26
Congenital heart block and subsequent connective tissue disorder in adolescence. (9104738)
1997
27
Complete congenital heart block is associated with increased autoantibody titers against calreticulin. (8904349)
1996
28
Long-term outcome of mothers of children with complete congenital heart block. (8629679)
1996
29
Subclass distribution of maternal and neonatal anti-Ro(SSA) and La(SSB) antibodies in congenital heart block. (8724310)
1996
30
Placental and fetal cardiac laminin are targets for cross-reacting autoantibodies from mothers of children with congenital heart block. (8864833)
1996
31
Congenital heart block due to pigment deposition in the conduction system. (7590841)
1995
32
In utero identification and therapy of congenital heart block. (7795614)
1995
33
Autoantibody-associated congenital heart block: outcome in mothers and children. (8116991)
1994
34
Complete congenital heart block in autoimmune hepatitis (SLA-positive). (7989713)
1994
35
Congenital heart block in one of the HLA identical twins. (8282145)
1993
36
Congenital heart block and neonatal lupus erythematosus: prevention is the goal. (8371199)
1993
37
A case of maternal subclinical SjAPgren's syndrome associated with congenital heart block. (1865576)
1991
38
Complete congenital heart block and physical exercise. A case report. (3230913)
1988
39
Congenital heart block. (3566682)
1986
40
Maternal connective tissue disease and congenital heart block. Demonstration of immunoglobulin in cardiac tissue. (3880599)
1985
41
Autoantibodies to SS-A/Ro in infants with congenital heart block. (6644424)
1983
42
Familial congenital heart block and hydrops fetalis. (7436490)
1980
43
Congenital heart block and connective tissue disease. (484970)
1979
44
Electron microscopical study of myocardial biopsy material in congenital heart block. (18610254)
1976
45
Congenital heart block. Anatomic correlations and review of the literature. (4808444)
1974
46
Exercise studies in congenital heart block. (5075312)
1972
47
Congenital heart block and widespread fibrosis due to maternal lupus erythematosus. (5927926)
1966
48
CONGENITAL HEART BLOCK. (14104788)
1964
49
Congenital heart block. (13832182)
1959
50
Congenital Heart-Block. (18742541)
1933

Genetic Variations for Congenital Heart Block

Expression for genes affiliated with Congenital Heart Block

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Congenital Heart Block

Search GEO for disease gene expression data for Congenital Heart Block.

Pathways for genes affiliated with Congenital Heart Block

Sources:
50PharmGKB
See all sources

Pathways related to Congenital Heart Block according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0SCN4B, KCNE2, KCNE1

Compounds for genes affiliated with Congenital Heart Block

Sources:
11DrugBank, 45Novoseek, 29IUPHAR, 24HMDB
See all sources

Compounds related to Congenital Heart Block according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1Tenecteplase1110.2CALR, PLAUR
2pilocarpine45 29 1112.1SRF, CHRM1
3heparin45 29 11 2412.9COLQ, CALR, SRF, TGIF1
4nitric oxide45 11 2411.7KCNE1, CALR, CHRM1, PLAUR, SRF, TGIF1
5arginine459.7KCNE1, CALR, CHRM1, PLAUR, SRF, ENO1
6zinc45 2410.6TGIF1, CA5B, CALR, TROVE2, TRIM21, PLAUR
7oxygen45 2410.5CALR, BLVRA, PLAUR, SRF, ENO1, TGIF1
8lipid459.4JMJD6, KCNE1, CALR, CHRM1, PLAUR, SRF
9oligonucleotide459.4CALR, TRIM21, PLAUR, SRF, TGIF1
10retinoic acid45 2410.4TGIF1, ENO1, LAMB1, SRF, PLAUR, CALR
11serine459.2KCNE1, CALR, SNRNP70, BLVRA, PLAUR, SRF

GO Terms for genes affiliated with Congenital Heart Block

Sources:
16Gene Ontology
See all sources

Cellular components related to Congenital Heart Block according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099869.9PLAUR, CALR, KCNE2, KCNE1
2ribonucleoprotein complexGO:0305299.7TRIM21, TROVE2, SSB

Biological processes related to Congenital Heart Block according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1regulation of delayed rectifier potassium channel activityGO:190225910.3KCNE2, KCNE1
2membrane repolarizationGO:08600910.3KCNE1, KCNE2
3membrane repolarization involved in regulation of action potentialGO:08601110.3KCNE2, KCNE1
4regulation of cardiac muscle cell action potential involved in contractionGO:08600210.2SCN4B, KCNE2, KCNE1
5regulation of ventricular cardiac muscle cell membrane repolarizationGO:06030710.2SCN4B, KCNE2, KCNE1
6regulation of potassium ion transmembrane transportGO:190137910.2KCNE2, KCNE1
7regulation of heart rate by cardiac conductionGO:08609110.2KCNE1, KCNE2, SCN4B
8potassium ion exportGO:07143510.2KCNE1, KCNE2
9cellular senescenceGO:09039810.2SRF, CALR
10erythrocyte developmentGO:04882110.0SRF, JMJD6
11regulation of ventricular cardiac muscle cell action potentialGO:0860059.9KCNE2, KCNE1

Molecular functions related to Congenital Heart Block according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:190228210.2KCNE2, KCNE1

Products for genes affiliated with Congenital Heart Block

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Heart Block

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet