MCID: CRD178
MIFTS: 25

Cardiac Conduction Disease with or Without Dilated Cardiomyopathy

Categories: Genetic diseases, Cardiovascular 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 57 75 29 6 40 73
Ccdd 57 75
Familial Atrial Tachyarrhythmia-Infra-Hisian Cardiac Conduction Disease 59
Arrhythmias, Cardiac 44

Characteristics:

Orphanet epidemiological data:

59
familial atrial tachyarrhythmia-infra-hisian cardiac conduction disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 family of german ancestry (last curated december 2014)


HPO:

32
cardiac conduction disease with or without dilated cardiomyopathy:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616117
Orphanet 59 ORPHA436242
ICD10 via Orphanet 34 I45.8
ICD10 33 I49.8
UMLS 73 C4015285

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

UniProtKB/Swiss-Prot : 75 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 left ventricular noncompaction. An important gene associated with Cardiac Conduction Disease with or Without Dilated Cardiomyopathy is TNNI3K (TNNI3 Interacting Kinase). Affiliated tissues include heart, 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 11.4
2 left ventricular noncompaction 9.6
3 cardiac sarcoidosis 9.6

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
infra-hisian cardiac conduction disease
atrial fibrillation
atrial flutter
multifocal or ectopic atrial tachycardia
congestive heart failure (in some patients)
more

Clinical features from OMIM:

616117

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 32 occasional (7.5%) HP:0001635
2 dilated cardiomyopathy 32 HP:0001644
3 atrial arrhythmia 32 HP:0001692
4 atrial flutter 32 HP:0004749
5 atrial fibrillation 32 HP:0005110
6 left anterior fascicular block 32 HP:0011711

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 29 TNNI3K

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

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

41
Heart

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

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

# Title Authors Year
1
A time-frequency approach for the analysis of normal and arrhythmia cardiac signals. ( 17959438 )
2006

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

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

75
# 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

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 9.16 FPGT-TNNI3K TNNI3K
2 intracellular signal transduction GO:0035556 8.96 FPGT-TNNI3K TNNI3K
3 regulation of cardiac conduction GO:1903779 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 obsolete signal transducer activity GO:0004871 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 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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