MCID: FML304
MIFTS: 38

Familial Isolated Dilated Cardiomyopathy

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Familial Isolated Dilated Cardiomyopathy

MalaCards integrated aliases for Familial Isolated Dilated Cardiomyopathy:

Name: Familial Isolated Dilated Cardiomyopathy 59 6
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 extracardiac rhabdomyoma. An important gene associated with Familial Isolated Dilated Cardiomyopathy is TNNT2 (Troponin T2, Cardiac Type), and among its related pathways/superpathways are Cardiac conduction and Aldosterone synthesis and secretion. Affiliated tissues include neutrophil, heart and smooth muscle, and related phenotypes are sensorineural hearing impairment and myopathy

Related Diseases for Familial Isolated Dilated Cardiomyopathy

Diseases related to Familial Isolated Dilated Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 dilated cardiomyopathy 29.5 ABCC9 ACTC1 CRYAB CSRP3 DES DMD
2 extracardiac rhabdomyoma 10.4 DES DMD
3 cytoplasmic body myopathy 10.4 DES DMD
4 familial isolated restrictive cardiomyopathy 10.4 TNNI3 TNNT2
5 cardioneuromyopathy with hyaline masses and nemaline rods 10.3 DES DMD TTN
6 microcolon 10.3 DES DMD
7 ovarian fibrothecoma 10.3 ACTC1 DES
8 fibroblastic rheumatism 10.3 ACTC1 DES
9 reducing body myopathy 10.3 DES DMD TTN
10 angiolipoma 10.3 ACTC1 DES
11 cardiomyopathy, dilated, 3b 10.3 DMD SGCD TAZ
12 myopathy, spheroid body 10.3 CRYAB DES TTN
13 cutaneous leiomyosarcoma 10.3 ACTC1 DES
14 cardiomyopathy, dilated, 1b 10.3 DMD FKTN
15 muscular dystrophy, limb-girdle, autosomal recessive 7 10.3 DMD TCAP TTN
16 botryoid rhabdomyosarcoma 10.3 ACTC1 DES
17 autosomal recessive limb-girdle muscular dystrophy 10.3 DMD SGCD TCAP
18 isolated hyperckemia 10.3 DMD TCAP
19 spindle cell lipoma 10.3 ACTC1 DES
20 glomangioma 10.3 ACTC1 DES
21 neuromuscular disease 10.3 DES DMD TTN
22 early-onset, autosomal dominant alzheimer disease 10.3 PSEN1 PSEN2
23 parachordoma 10.3 ACTC1 DES
24 muscle tissue disease 10.3 DMD FKTN SGCD
25 muscular dystrophy, congenital, lmna-related 10.3 DMD FKTN TTN
26 atrial heart septal defect 10.3 ACTC1 DMD TNNI3
27 ossifying fibromyxoid tumor 10.3 ACTC1 DES
28 muscular dystrophy, congenital, 1b 10.3 DMD FKTN
29 epithelioid leiomyosarcoma 10.3 ACTC1 DES
30 muscular dystrophy, limb-girdle, autosomal recessive 6 10.3 DMD SGCD TCAP TTN
31 autosomal recessive limb-girdle muscular dystrophy type 2c 10.3 DMD SGCD
32 cardiomyopathy, dilated, 1e 10.3 DES SCN5A TPM1 TTN
33 arrhythmogenic right ventricular cardiomyopathy 10.3 DES DMD SCN5A TTN
34 alzheimer disease 4 10.3 PSEN1 PSEN2
35 benign metastasizing leiomyoma 10.3 ACTC1 DES
36 myofibrillar myopathy 10.3 CRYAB DES DMD TCAP TTN
37 muscular disease 10.3 DMD FKTN SGCD TAZ TTN
38 muscular dystrophy, limb-girdle, autosomal recessive 8 10.3 TCAP TTN
39 cardiomyopathy, familial hypertrophic, 1 10.2 ACTC1 TNNI3 TNNT2 TPM1 TTN
40 limb-girdle muscular dystrophy 10.2 DMD FKTN SGCD TCAP TTN
41 familial idiopathic basal ganglia calcification 10.2 PSEN1 PSEN2
42 non-langerhans-cell histiocytosis 10.2 ACTC1 DES
43 muscular dystrophy 10.2 DES DMD FKTN SGCD TCAP TTN
44 pulmonary vein stenosis 10.2 ACTC1 DES
45 heart disease 10.2 ACTC1 SCN5A TAZ TNNI3 TNNT2 TTN
46 creatine phosphokinase, elevated serum 10.2 DMD TCAP
47 restrictive cardiomyopathy 10.2 ACTC1 CRYAB DES TNNI3 TNNT2 TPM1
48 atrial standstill 1 10.2 CSRP3 DES DMD SCN5A TAZ TNNI3
49 intrinsic cardiomyopathy 10.1 ACTC1 CSRP3 DMD SCN5A TNNI3 TNNT2
50 muscular dystrophy, congenital merosin-deficient, 1a 10.1 DMD FKTN

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 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
3 lipoatrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100578
4 elevated serum creatine phosphokinase 59 32 occasional (7.5%) Occasional (29-5%) HP:0003236
5 emg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0003457
6 palmoplantar keratoderma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000982
7 dilated cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001644
8 abnormality of neutrophils 59 32 occasional (7.5%) Occasional (29-5%) HP:0001874

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.09 TPM1
2 Decreased viability GR00221-A-2 10.09 TTN
3 Decreased viability GR00221-A-4 10.09 TTN
4 Decreased viability GR00240-S-1 10.09 TCAP
5 Decreased viability GR00342-S-1 10.09 TTN
6 Decreased viability GR00342-S-3 10.09 TTN
7 Decreased viability GR00381-A-1 10.09 PPCS
8 Decreased viability GR00402-S-2 10.09 ABCC9 ACTC1 CRYAB CSRP3 DES DMD
9 no effect GR00402-S-1 9.62 ABCC9 ACTC1 CRYAB CSRP3 DES DMD

MGI Mouse Phenotypes related to Familial Isolated Dilated Cardiomyopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.17 ABCC9 ACTC1 CSRP3 DES DMD PSEN1
2 behavior/neurological MP:0005386 10.11 CRYAB DES DMD FKTN PSEN1 PSEN2
3 cellular MP:0005384 10.03 ABCC9 ACTC1 CRYAB CSRP3 DES DMD
4 homeostasis/metabolism MP:0005376 9.97 ABCC9 ACTC1 CSRP3 DES DMD FKTN
5 mortality/aging MP:0010768 9.8 ABCC9 ACTC1 CSRP3 DES DMD FKTN
6 muscle MP:0005369 9.47 ABCC9 ACTC1 CRYAB CSRP3 DES DMD

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, Heart, Smooth Muscle

Publications for Familial Isolated Dilated Cardiomyopathy

Articles related to Familial Isolated Dilated Cardiomyopathy:

# Title Authors Year
1
Autosomal recessive, familial, isolated dilated cardiomyopathy due to compound desmoplakin gene mutations. ( 30398466 )
2018

Variations for Familial Isolated Dilated Cardiomyopathy

ClinVar genetic disease variations for Familial Isolated Dilated Cardiomyopathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic rs74315379 GRCh37 Chromosome 1, 201333464: 201333464
2 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic rs74315379 GRCh38 Chromosome 1, 201364336: 201364336
3 DSG2 NM_001943.4(DSG2): c.1361A> C (p.Asp454Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 29115313: 29115313
4 DSG2 NM_001943.4(DSG2): c.1361A> C (p.Asp454Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 31535350: 31535350

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
12.54 ABCC9 DES DMD SCN5A TCAP TNNI3
2
Show member pathways
12.5 ACTC1 SCN5A TNNI3 TNNT2 TPM1
3 12.25 ACTC1 DES TNNI3 TNNT2 TPM1
4
Show member pathways
11.8 ACTC1 DES DMD SGCD TNNI3 TNNT2
5 11.51 ACTC1 TNNI3 TNNT2 TPM1
6 11.28 ACTC1 SCN5A TNNI3 TNNT2
7 11.08 ACTC1 DES DMD TCAP TNNI3 TNNT2
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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.72 ABCC9 DES DMD SCN5A SGCD
2 myofibril GO:0030016 9.67 DMD TNNI3 TNNT2 TPM1
3 contractile fiber GO:0043292 9.58 CRYAB DES TNNI3
4 I band GO:0031674 9.56 ACTC1 CRYAB TCAP TTN
5 Z disc GO:0030018 9.56 CRYAB CSRP3 DES DMD PSEN2 SCN5A
6 dystrophin-associated glycoprotein complex GO:0016010 9.49 DMD SGCD
7 striated muscle thin filament GO:0005865 9.48 TNNT2 TTN
8 troponin complex GO:0005861 9.46 TNNI3 TNNT2
9 cardiac myofibril GO:0097512 9.46 CRYAB DES TNNI3 TNNT2
10 cardiac Troponin complex GO:1990584 9.43 TNNI3 TNNT2
11 sarcomere GO:0030017 9.23 ABCC9 ACTC1 CSRP3 TCAP TNNI3 TNNT2

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 cellular calcium ion homeostasis GO:0006874 9.8 CSRP3 PSEN1 TNNI3
2 muscle organ development GO:0007517 9.77 CRYAB CSRP3 DMD FKTN SGCD
3 skeletal muscle tissue development GO:0007519 9.74 CSRP3 DMD TAZ
4 regulation of heart contraction GO:0008016 9.73 DES TNNT2 TPM1
5 skeletal muscle contraction GO:0003009 9.71 TCAP TNNI3 TNNT2
6 sarcomere organization GO:0045214 9.71 TCAP TNNT2 TPM1 TTN
7 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.7 TNNI3 TNNT2 TPM1
8 muscle contraction GO:0006936 9.7 CRYAB DES TAZ TNNI3 TNNT2 TPM1
9 cardiac muscle tissue morphogenesis GO:0055008 9.69 ACTC1 TCAP TTN
10 regulation of muscle contraction GO:0006937 9.67 TNNI3 TNNT2 TPM1
11 heart contraction GO:0060047 9.65 ACTC1 SGCD TNNI3
12 cardiac muscle contraction GO:0060048 9.65 ACTC1 CSRP3 DMD SCN5A TAZ TCAP
13 cardiac muscle tissue development GO:0048738 9.64 CSRP3 TAZ
14 cardiac muscle fiber development GO:0048739 9.64 TCAP TTN
15 response to muscle stretch GO:0035994 9.63 DMD TCAP
16 striated muscle contraction GO:0006941 9.63 TNNI3 TTN
17 skeletal muscle thin filament assembly GO:0030240 9.63 ACTC1 TCAP TTN
18 amyloid-beta metabolic process GO:0050435 9.62 PSEN1 PSEN2
19 negative regulation of ATPase activity GO:0032780 9.61 TNNI3 TNNT2
20 response to denervation involved in regulation of muscle adaptation GO:0014894 9.61 DMD SCN5A
21 cardiac muscle hypertrophy GO:0003300 9.61 CSRP3 TCAP TTN
22 skeletal muscle myosin thick filament assembly GO:0030241 9.6 TCAP TTN
23 Notch receptor processing GO:0007220 9.59 PSEN1 PSEN2
24 amyloid precursor protein catabolic process GO:0042987 9.58 PSEN1 PSEN2
25 Notch receptor processing, ligand-dependent GO:0035333 9.58 PSEN1 PSEN2
26 cardiac myofibril assembly GO:0055003 9.56 ACTC1 CSRP3 TCAP TTN
27 sarcomerogenesis GO:0048769 9.55 TCAP TTN
28 detection of muscle stretch GO:0035995 9.5 CSRP3 TCAP TTN
29 muscle filament sliding GO:0030049 9.23 ACTC1 DES DMD TCAP TNNI3 TNNT2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.67 ABCC9 SCN5A TCAP
2 structural constituent of cytoskeleton GO:0005200 9.63 DES DMD TPM1
3 cytoskeletal protein binding GO:0008092 9.58 CRYAB DES TPM1
4 actin binding GO:0003779 9.55 CSRP3 DMD TNNI3 TNNT2 TPM1
5 aspartic-type endopeptidase activity GO:0004190 9.48 PSEN1 PSEN2
6 nitric-oxide synthase binding GO:0050998 9.43 DMD SCN5A
7 actinin binding GO:0042805 9.37 CSRP3 TTN
8 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 9.32 PSEN1 PSEN2
9 telethonin binding GO:0031433 9.26 CSRP3 TTN
10 structural constituent of muscle GO:0008307 9.02 CSRP3 DMD TCAP TPM1 TTN
11 troponin C binding GO:0030172 8.96 TNNI3 TNNT2

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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