MCID: FML304
MIFTS: 35

Familial Isolated Dilated Cardiomyopathy

Categories: Rare diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Familial Isolated Dilated Cardiomyopathy

MalaCards integrated aliases for Familial Isolated Dilated Cardiomyopathy:

Name: Familial Isolated Dilated Cardiomyopathy 59
Familial or Idiopathic Dilated Cardiomyopathy 59

Characteristics:

Orphanet epidemiological data:

59
familial isolated dilated cardiomyopathy
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,X-linked recessive; Prevalence: 1-9/100000 (Europe),1-5/10000 (Europe); Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

Orphanet 59 ORPHA154
UMLS via Orphanet 74 C0340427
ICD10 via Orphanet 34 I42.0

Summaries for Familial Isolated Dilated Cardiomyopathy

MalaCards based summary : Familial Isolated Dilated Cardiomyopathy, also known as familial or idiopathic dilated cardiomyopathy, is related to dilated cardiomyopathy and alzheimer disease 4. An important gene associated with Familial Isolated Dilated Cardiomyopathy is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Cardiac conduction. Affiliated tissues include neutrophil, and related phenotypes are sensorineural hearing impairment and palmoplantar keratoderma

Related Diseases for Familial Isolated Dilated Cardiomyopathy

Graphical network of the top 20 diseases related to Familial Isolated Dilated Cardiomyopathy:



Diseases related to Familial Isolated Dilated Cardiomyopathy

Symptoms & Phenotypes for Familial Isolated Dilated Cardiomyopathy

Human phenotypes related to Familial Isolated Dilated Cardiomyopathy:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
2 palmoplantar keratoderma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000982
3 dilated cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001644
4 abnormality of neutrophils 59 32 occasional (7.5%) Occasional (29-5%) HP:0001874
5 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
6 elevated serum creatine phosphokinase 59 32 occasional (7.5%) Occasional (29-5%) HP:0003236
7 emg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0003457
8 lipoatrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100578

MGI Mouse Phenotypes related to Familial Isolated Dilated Cardiomyopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 PRDM16 PSEN1 PSEN2 RAF1 RBM20 SCN5A
2 mortality/aging MP:0010768 9.93 PRDM16 PSEN1 PSEN2 RAF1 SCN5A SDHA
3 muscle MP:0005369 9.7 SGCD TCAP TNNI3 TNNT2 TTN TXNRD2
4 normal MP:0002873 9.23 PRDM16 PSEN1 PSEN2 RAF1 SCN5A TNNT2

Drugs & Therapeutics for Familial Isolated Dilated Cardiomyopathy

Search Clinical Trials , NIH Clinical Center for Familial Isolated Dilated Cardiomyopathy

Genetic Tests for Familial Isolated Dilated Cardiomyopathy

Anatomical Context for Familial Isolated Dilated Cardiomyopathy

MalaCards organs/tissues related to Familial Isolated Dilated Cardiomyopathy:

41
Neutrophil

Publications for Familial Isolated Dilated Cardiomyopathy

Articles related to Familial Isolated Dilated Cardiomyopathy:

# Title Authors Year
1
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. ( 20215591 )
2010
2
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. ( 19412328 )
2008

Variations for Familial Isolated Dilated Cardiomyopathy

Expression for Familial Isolated Dilated Cardiomyopathy

Search GEO for disease gene expression data for Familial Isolated Dilated Cardiomyopathy.

Pathways for Familial Isolated Dilated Cardiomyopathy

Pathways related to Familial Isolated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 PLN RAF1 SCN5A TNNC1 TNNI3 TNNT2
2
Show member pathways
12.54 PLN SCN5A TCAP TNNC1 TNNI3 TNNT2
3 12.25 TMPO TNNI3 TNNT2 TPM1 VCL
4
Show member pathways
11.74 PLN SGCD TNNC1 TNNI3 TNNT2 TPM1
5 11.45 TNNC1 TNNI3 TNNT2 TPM1
6 11.33 SCN5A TNNI3 TNNT2
7 10.96 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN
8 10.1 PSEN1 PSEN2

GO Terms for Familial Isolated Dilated Cardiomyopathy

Cellular components related to Familial Isolated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.61 SCN5A SGCD VCL
2 sarcomere GO:0030017 9.56 TCAP TNNI3 TNNT2 TPM1
3 Z disc GO:0030018 9.55 PSEN1 PSEN2 SCN5A TCAP TTN
4 myofibril GO:0030016 9.5 TNNI3 TNNT2 TPM1
5 striated muscle thin filament GO:0005865 9.48 TNNT2 TTN
6 contractile fiber GO:0043292 9.46 TNNC1 TNNI3
7 ciliary rootlet GO:0035253 9.4 PSEN1 PSEN2
8 cardiac myofibril GO:0097512 9.37 TNNI3 TNNT2
9 troponin complex GO:0005861 9.13 TNNC1 TNNI3 TNNT2
10 cardiac Troponin complex GO:1990584 8.8 TNNC1 TNNI3 TNNT2

Biological processes related to Familial Isolated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.89 PSEN1 RAF1 RBM20 TAZ TNNI3
2 Notch signaling pathway GO:0007219 9.82 PLN PSEN1 PSEN2
3 cellular calcium ion homeostasis GO:0006874 9.8 PLN PSEN1 TNNI3
4 positive regulation of catalytic activity GO:0043085 9.77 PSEN1 PSEN2 RAF1
5 sarcomere organization GO:0045214 9.71 TCAP TNNT2 TPM1 TTN
6 regulation of heart contraction GO:0008016 9.69 PLN TNNT2 TPM1
7 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.67 TNNC1 TNNI3 TNNT2 TPM1
8 membrane protein intracellular domain proteolysis GO:0031293 9.65 PSEN1 PSEN2
9 cardiac myofibril assembly GO:0055003 9.64 TCAP TTN
10 cardiac muscle tissue morphogenesis GO:0055008 9.64 TCAP TTN
11 response to muscle stretch GO:0035994 9.63 RAF1 TCAP
12 cardiac muscle tissue development GO:0048738 9.63 PLN SGCD TAZ
13 muscle contraction GO:0006936 9.63 TAZ TNNI3 TNNT2 TPM1 TTN VCL
14 Notch receptor processing GO:0007220 9.62 PSEN1 PSEN2
15 amyloid-beta metabolic process GO:0050435 9.62 PSEN1 PSEN2
16 skeletal muscle contraction GO:0003009 9.62 TCAP TNNC1 TNNI3 TNNT2
17 Notch receptor processing, ligand-dependent GO:0035333 9.61 PSEN1 PSEN2
18 heart contraction GO:0060047 9.61 SGCD TNNI3
19 negative regulation of ATPase activity GO:0032780 9.61 PLN TNNI3 TNNT2
20 cardiac muscle fiber development GO:0048739 9.59 TCAP TTN
21 regulation of cardiac muscle cell contraction GO:0086004 9.58 PLN SCN5A
22 cardiac muscle hypertrophy GO:0003300 9.58 TCAP TTN
23 skeletal muscle thin filament assembly GO:0030240 9.57 TCAP TTN
24 amyloid precursor protein catabolic process GO:0042987 9.56 PSEN1 PSEN2
25 regulation of muscle contraction GO:0006937 9.56 TNNC1 TNNI3 TNNT2 TPM1
26 skeletal muscle myosin thick filament assembly GO:0030241 9.55 TCAP TTN
27 detection of muscle stretch GO:0035995 9.54 TCAP TTN
28 sarcomerogenesis GO:0048769 9.52 TCAP TTN
29 regulation of muscle filament sliding speed GO:0032972 9.48 TNNC1 TNNT2
30 muscle filament sliding GO:0030049 9.43 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN
31 cardiac muscle contraction GO:0060048 9.23 SCN5A TAZ TCAP TNNC1 TNNI3 TNNT2

Molecular functions related to Familial Isolated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.73 TNNI3 TNNT2 TPM1 VCL
2 aspartic-type endopeptidase activity GO:0004190 9.46 PSEN1 PSEN2
3 structural constituent of muscle GO:0008307 9.43 TCAP TPM1 TTN
4 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 9.4 PSEN1 PSEN2
5 troponin I binding GO:0031013 9.32 TNNC1 TNNT2
6 troponin T binding GO:0031014 9.16 TNNC1 TNNI3
7 actin filament binding GO:0051015 9.02 TNNC1 TNNI3 TPM1 TTN VCL
8 troponin C binding GO:0030172 8.96 TNNI3 TNNT2
9 protein binding GO:0005515 10.32 PLN PRDM16 PSEN1 PSEN2 RAF1 SCN5A

Sources for Familial Isolated Dilated Cardiomyopathy

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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