MCID: CNG018
MIFTS: 49

Congenital Heart Block malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Endocrine diseases categories
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Summaries for Congenital Heart Block

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47OMIM, 33MalaCards
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MalaCards: Congenital Heart Block, also known as congenital atrioventricular block, is related to lupus erythematosus and systemic lupus erythematosus. An important gene associated with Congenital Heart Block is CALR (calreticulin). The compounds sucrose and inositol 1,4,5 trisphosphate have been mentioned in the context of this disorder. Affiliated tissues include heart, atrioventricular node and t cells, and related mouse phenotypes are renal/urinary system and hematopoietic system.

Description from OMIM:47 234700

Aliases & Classifications for Congenital Heart Block

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62UMLS, 8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 49Orphanet, 47OMIM, 58SNOMED-CT, 35MeSH, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:



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 62
congenital atrioventricular block 49
atrioventricular block 62
heart block congenital 43


External Ids:

Disease Ontology8 DOID:990
MeSH35 C535758
ICD9CM27 746.86
OMIM47 234700
MESH via Orphanet36 C535758
ICD10 via Orphanet26 Q24.6
SNOMED-CT via Orphanet59 46619002
UMLS via Orphanet63 C0149530
ICD1025 Q24.6

Related Diseases for Congenital Heart Block

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Congenital Heart Block:



Diseases related to congenital heart block

Symptoms for Congenital Heart Block

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47OMIM
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Symptoms by clinical synopsis from OMIM:

234700

Clinical features from OMIM:

234700

Drugs & Therapeutics for Congenital Heart Block

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Congenital Heart Block

Search NIH Clinical Center for Congenital Heart Block

Genetic Tests for Congenital Heart Block

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Anatomical Context for Congenital Heart Block

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31LifeMap Discovery™, 33MalaCards
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MalaCards organs/tissues related to Congenital Heart Block:

33
Heart, Atrioventricular node, T cells, Pancreas

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

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37MGI
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MGI Mouse Phenotypes related to Congenital Heart Block:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6TROVE2, TRIM21, TLR7
2MP:00053977.5TROVE2, TRIM21, CHRM1, KCNE2, TLR7
3MP:00053767.4TLR7, KCNE2, CHRM1, CALR, TRIM21
4MP:00053877.4TLR7, KCNE2, CHRM1, TRIM21, TROVE2

Publications for Congenital Heart Block

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52PubMed
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Articles related to Congenital Heart Block:

(show top 50)    (show all 271)
idTitleAuthorsYear
1
Long-term growth of children with autoantibody-mediated congenital heart block. (23551183)
2013
2
Left ventricular function and right ventricular pacing for isolated congenital heart block. (23656914)
2013
3
Left ventricular torsional mechanics and diastolic function in congenital heart block with right ventricular pacing. (21481959)
2012
4
Rescue and worsening of congenital heart block-associated electrocardiographic abnormalities in two transgenic mice. (21352396)
2011
5
Autoantibodies associated with congenital heart block. (20696014)
2010
6
Role of calcium channels in congenital heart block. (20696020)
2010
7
Congenital heart block not associated with anti-Ro/La antibodies: comparison with anti-Ro/La-positive cases. (19567621)
2009
8
Prospective evaluation of fetuses with autoimmune-associated congenital heart block followed in the PR Interval and Dexamethasone Evaluation (PRIDE) Study. (19361597)
2009
9
The cerebroplacental Doppler ratio predicts postnatal outcome in fetuses with congenital heart block. (18704034)
2008
10
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
11
Epidemiology, etiology, detection, and treatment of autoantibody-associated congenital heart block in neonatal lupus. (17502039)
2007
12
Predicting autoimmune congenital heart block: is it feasible and how? (17626028)
2007
13
Ro52, Ro60 and La IgG autoantibody levels and Ro52 IgG subclass profiles longitudinally throughout pregnancy in congenital heart block risk pregnancies. (16830880)
2006
14
Hypothyroidism and antithyroglobulin and antithyroperoxidase antibodies in the pathogenesis of autoimmune associated congenital heart block. (17014028)
2006
15
Ro/SSA autoantibodies directly bind cardiomyocytes, disturb calcium homeostasis, and mediate congenital heart block. (15630133)
2005
16
Anti-SSA/Ro-related congenital heart block in two family members of different generations: Comment on the article by Clancy et al. (15880834)
2005
17
Maternal and sibling microchimerism in twins and triplets discordant for neonatal lupus syndrome-congenital heart block. (15536065)
2005
18
Is isolated congenital heart block associated to neonatal lupus requiring pacemaker a distinct cardiac syndrome? (15125717)
2004
19
Autoimmune-associated congenital heart block: dissecting the cascade from immunologic insult to relentless fibrosis. (15368347)
2004
20
Immunohistologic evidence supports apoptosis, IgG deposition, and novel macrophage/fibroblast crosstalk in the pathologic cascade leading to congenital heart block. (14730614)
2004
21
Congenital heart block: do fetal factors fuel the fire from inflammation to fibrosis? (14596420)
2003
22
Successful outcome in a fetus with an extremely low heart rate due to isolated complete congenital heart block. (12601845)
2003
23
New lead for in utero pacing for fetal congenital heart block. (12878975)
2003
24
Transdifferentiation of cardiac fibroblasts, a fetal factor in anti-SSA/Ro-SSB/La antibody-mediated congenital heart block. (12165545)
2002
25
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
26
Congenital heart block in neonatal lupus: the pediatric cardiologist's perspective. (12139139)
2002
27
Complete congenital heart block diagnosed in labour. (12244606)
2002
28
A serologic marker for fetal risk of congenital heart block. (12115229)
2002
29
Congenital heart block: development of late-onset cardiomyopathy, a previously underappreciated sequela. (11153745)
2001
30
Anti-Ro/SSA antibodies and congenital heart block: necessary but not sufficient. (11508420)
2001
31
Assessment of fetal rhythm in complete congenital heart block by magnetocardiography. (10879394)
2000
32
ERV-3 envelope expression and congenital heart block: what does a physiological knockout teach us. (10435720)
1999
33
Complete congenital heart block: a review and case study. (10418435)
1999
34
Congenital heart block and associated cardiac pathology in neonatal lupus syndrome. (9507038)
1998
35
Serum and immunoglobulin G from the mother of a child with congenital heart block induce conduction abnormalities and inhibit L-type calcium channels in a rat heart model. (9667364)
1998
36
Anti-Ro (SSA) and anti-La (SSB) antibodies and complete congenital heart block. (9255327)
1997
37
Outcome of isolated congenital heart block diagnosed in utero. (9290412)
1997
38
Management with a staged approach of the premature hydropic fetus due to complete congenital heart block. (9243231)
1997
39
Complete congenital heart block is associated with increased autoantibody titers against calreticulin. (8904349)
1996
40
Long-term outcome of mothers of children with complete congenital heart block. (8629679)
1996
41
Neonatal lupus erythematosus with congenital heart block and severe heart failure due to myocarditis and endocardititis of the mitral valve. (8796403)
1996
42
Relationship between maternal and neonatal levels of antibodies to 48 kDa SSB(La), 52 kDa SSA(Ro), and 60 kDa SSA(Ro) in pregnancies complicated by congenital heart block. (7837164)
1994
43
Complete congenital heart block: a case study. (3643413)
1987
44
Neonatal lupus erythematosus with congenital heart block associated with maternal systemic lupus erythematosus. (3816098)
1986
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. A report of two cases. (5768559)
1969
48
Symptomless congenital heart block with hypertension. (14804594)
1950
49
A case of congenital heart block with a defect in the interventricular septum. (20267067)
1947
50
CONGENITAL HEART BLOCK WITH ATRIAL AND VENTRICULAR SEPTAL DEFECT. (18609914)
1943

Variations for Congenital Heart Block

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Congenital Heart Block:

1
id Gene Name Type Significance SNP ID Assembly Location
1SCN5ANM_000335.4(SCN5A): c.4780G> A (p.Asp1594Asn)single nucleotide variantPathogenicrs137854607GRCh37Chr 3, 38595800: 38595800
2SCN5ANM_000335.4(SCN5A): c.892G> A (p.Gly298Ser)single nucleotide variantPathogenicrs137854608GRCh37Chr 3, 38651267: 38651267

Expression for genes affiliated with Congenital Heart Block

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Heart Block

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Pathways for genes affiliated with Congenital Heart Block

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Compounds for genes affiliated with Congenital Heart Block

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45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Congenital Heart Block according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sucrose45 24 1111.5CALR, CHRM1
2inositol 1,4,5 trisphosphate459.2CALR, CHRM1
3leucine459.1TRIM21, CALR, CHRM1
4zinc45 249.9CALR, TRIM21, TROVE2

GO Terms for genes affiliated with Congenital Heart Block

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16Gene Ontology
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Cellular components related to Congenital Heart Block according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.1KCNE2, TLR7
2ribonucleoprotein complexGO:0305299.1TROVE2, TRIM21

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell cycleGO:0457879.6TRIM21, CALR

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

idNameGO IDScoreTop Affiliating Genes
1drug bindingGO:0081449.1CHRM1, TLR7

Products for genes affiliated with Congenital Heart Block

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Heart Block

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet