CCDD
MCID: CRD178
MIFTS: 29

Cardiac Conduction Disease with or Without Dilated Cardiomyopathy (CCDD)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiac Conduction Disease with or Without Dilated...

MalaCards integrated aliases for Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

Name: Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 58 76 30 6 41 74
Ccdd 58 76
Familial Atrial Tachyarrhythmia-Infra-Hisian Cardiac Conduction Disease 60
Arrhythmias, Cardiac 45

Characteristics:

Orphanet epidemiological data:

60
familial atrial tachyarrhythmia-infra-hisian cardiac conduction disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset of arrhythmias in first decade of life
dilated cardiomyopathy can occur as early as second decade of life
early sudden death may occur (1.5 years, 16 years, and 13 years reported in some patients)


HPO:

33
cardiac conduction disease with or without dilated cardiomyopathy:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 616117
ICD10 34 I49.8
ICD10 via Orphanet 35 I45.8
Orphanet 60 ORPHA436242
UMLS 74 C4015285

Summaries for Cardiac Conduction Disease with or Without Dilated...

UniProtKB/Swiss-Prot : 76 Cardiac conduction disease with or without dilated cardiomyopathy: A cardiac disorder characterized by atrial tachyarrhythmia and conduction system disease. Some patients have dilated cardiomyopathy.

MalaCards based summary : Cardiac Conduction Disease with or Without Dilated Cardiomyopathy, also known as ccdd, is related to cardiac arrhythmia and atrial fibrillation, familial, 10. An important gene associated with Cardiac Conduction Disease with or Without Dilated Cardiomyopathy is TNNI3K (TNNI3 Interacting Kinase). Affiliated tissues include heart and testes, and related phenotypes are congestive heart failure and dilated cardiomyopathy

Description from OMIM: 616117

Related Diseases for Cardiac Conduction Disease with or Without Dilated...

Diseases related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cardiac arrhythmia 11.8
2 atrial fibrillation, familial, 10 9.9
3 atrioventricular block 9.7
4 heart disease 9.7
5 hypoxia 9.7

Graphical network of the top 20 diseases related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:



Diseases related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy

Symptoms & Phenotypes for Cardiac Conduction Disease with or Without Dilated...

Human phenotypes related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 33 occasional (7.5%) HP:0001635
2 dilated cardiomyopathy 33 HP:0001644
3 tachycardia 33 HP:0001649
4 atrial fibrillation 33 HP:0005110
5 left anterior fascicular block 33 HP:0011711
6 atrial flutter 33 HP:0004749
7 atrial arrhythmia 33 HP:0001692

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
atrial fibrillation
right bundle branch block
sinus bradycardia
prolonged qtc interval
left anterior fascicular block
more

Clinical features from OMIM:

616117

Drugs & Therapeutics for Cardiac Conduction Disease with or Without Dilated...

Search Clinical Trials , NIH Clinical Center for Cardiac Conduction Disease with or Without Dilated Cardiomyopathy

Cochrane evidence based reviews: arrhythmias, cardiac

Genetic Tests for Cardiac Conduction Disease with or Without Dilated...

Genetic tests related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

# Genetic test Affiliating Genes
1 Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 30 TNNI3K

Anatomical Context for Cardiac Conduction Disease with or Without Dilated...

MalaCards organs/tissues related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

42
Heart, Testes

Publications for Cardiac Conduction Disease with or Without Dilated...

Articles related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

(show all 11)
# Title Authors Year
1
Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys). ( 30010057 )
2019
2
Whole exome sequencing identifies a novel mutation (c.333 + 2T > C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease. ( 29355681 )
2018
3
CCDD Phenotype Associated with a Small Chromosome 2 Deletion. ( 24475916 )
2015
4
Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia. ( 25791106 )
2015
5
TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy. ( 24925317 )
2014
6
Molecular analysis of Oryza latifolia Desv. (CCDD genome)-derived introgression lines and identification of value-added traits for rice (O. sativa L.) improvement. ( 24939891 )
2014
7
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). ( 21810866 )
2011
8
Characterization of a dispersed repetitive DNA sequence associated with the CCDD genome of wild rice. ( 7672603 )
1995
9
Rust resistance in Triticum cylindricum Ces. (4x, CCDD) and its transfer into durum and hexaploid wheats. ( 18470147 )
1995
10
Restriction fragment length polymorphism analysis of CCDD genome species of the genus Oryza L. ( 1677594 )
1991
11
D genome doners for Aegilops cylindrica (CCDD) and Triticum aestivum (AABBDD) deduced from esterase isozyme analysis. ( 24276583 )
1981

Variations for Cardiac Conduction Disease with or Without Dilated...

UniProtKB/Swiss-Prot genetic disease variations for Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

76
# Symbol AA change Variation ID SNP ID
1 TNNI3K p.Gly526Asp VAR_072650 rs606231469

ClinVar genetic disease variations for Cardiac Conduction Disease with or Without Dilated Cardiomyopathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNI3K NM_015978.2(TNNI3K): c.1577G> A (p.Gly526Asp) single nucleotide variant Pathogenic rs606231469 GRCh38 Chromosome 1, 74369495: 74369495
2 TNNI3K NM_015978.2(TNNI3K): c.1577G> A (p.Gly526Asp) single nucleotide variant Pathogenic rs606231469 GRCh37 Chromosome 1, 74835179: 74835179
3 TNNI3K NM_015978.2: c.1615A> G transition undetermined variant Pathogenic
4 TNNI3K NM_015978.2(TNNI3K): c.333+2T> C single nucleotide variant Pathogenic GRCh38 Chromosome 1, 74250771: 74250771
5 TNNI3K NM_015978.2(TNNI3K): c.333+2T> C single nucleotide variant Pathogenic GRCh37 Chromosome 1, 74716455: 74716455
6 TNNI3K NM_015978.3(TNNI3K): c.2302G> A (p.Glu768Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 74957901: 74957901
7 TNNI3K NM_015978.3(TNNI3K): c.2302G> A (p.Glu768Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 74492217: 74492217

Expression for Cardiac Conduction Disease with or Without Dilated...

Search GEO for disease gene expression data for Cardiac Conduction Disease with or Without Dilated Cardiomyopathy.

Pathways for Cardiac Conduction Disease with or Without Dilated...

GO Terms for Cardiac Conduction Disease with or Without Dilated...

Biological processes related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 8.62 FPGT-TNNI3K TNNI3K

Molecular functions related to Cardiac Conduction Disease with or Without Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.16 FPGT-TNNI3K TNNI3K
2 protein kinase activity GO:0004672 8.96 FPGT-TNNI3K TNNI3K
3 protein serine/threonine kinase activity GO:0004674 8.62 FPGT-TNNI3K TNNI3K

Sources for Cardiac Conduction Disease with or Without Dilated...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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