MCID: FML304
MIFTS: 50

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 58 6
Familial or Idiopathic Dilated Cardiomyopathy 58

Characteristics:

Orphanet epidemiological data:

58
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:

ICD10 via Orphanet 33 I42.0
UMLS via Orphanet 71 C0340427
Orphanet 58 ORPHA154

Summaries for Familial Isolated Dilated Cardiomyopathy

MalaCards based summary : Familial Isolated Dilated Cardiomyopathy, also known as familial or idiopathic dilated cardiomyopathy, is related to cardiomyopathy, dilated, 1b and cardiomyopathy, familial hypertrophic, 4. An important gene associated with Familial Isolated Dilated Cardiomyopathy is DSG2 (Desmoglein 2), and among its related pathways/superpathways are Cardiac conduction and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include heart, skeletal muscle and smooth muscle, and related phenotypes are dilated cardiomyopathy and sensorineural hearing impairment

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 109)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1b 30.9 TNNT2 SCN5A RBM20 MYH7 MYBPC3 BAG3
2 cardiomyopathy, familial hypertrophic, 4 30.8 TNNT2 MYH7 MYBPC3 DMD
3 cardiomyopathy, dilated, 1e 30.7 SCN5A RBM20 NEXN MYH7 DES
4 atrial standstill 1 30.3 TNNT2 SCN5A RBM20 PLN NEXN MYH7
5 left ventricular noncompaction 30.0 TNNT2 SCN5A RBM20 NEXN MYPN MYH7
6 hypertrophic cardiomyopathy 30.0 TNNT2 SCN5A RBM20 PLN NEXN MYPN
7 dilated cardiomyopathy 29.9 TNNT2 SCN5A RBM20 PSEN1 PLN NEXN
8 fibroblastic rheumatism 10.5 DES ACTC1
9 extracardiac rhabdomyoma 10.5 DMD DES
10 ovarian fibrothecoma 10.5 DES ACTC1
11 cytoplasmic body myopathy 10.5 DMD DES
12 cardioneuromyopathy with hyaline masses and nemaline rods 10.5 DMD DES
13 adult cystic nephroma 10.5 DES ACTC1
14 benign metastasizing leiomyoma 10.5 DES ACTC1
15 microcolon 10.5 DMD DES
16 pulmonary vein stenosis 10.5 DES ACTC1
17 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.5 LDB3 DSG2
18 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.5 LDB3 DSG2
19 cutaneous leiomyosarcoma 10.5 DES ACTC1
20 scapuloperoneal syndrome, neurogenic, kaeser type 10.5 LDB3 DES
21 muscular disease 10.5 MYH7 FKTN DMD
22 botryoid rhabdomyosarcoma 10.5 DES ACTC1
23 tricuspid valve disease 10.5 TNNT2 MYH7 ACTC1
24 parachordoma 10.5 DES ACTC1
25 reducing body myopathy 10.5 DMD DES
26 myopathy, myofibrillar, 2 10.5 LDB3 CRYAB BAG3
27 left bundle branch hemiblock 10.5 TNNT2 SCN5A DSG2
28 autosomal dominant distal myopathy 10.5 MYH7 DMD DES
29 rare tumor 10.5 DES ACTC1
30 familial isolated arrhythmogenic right ventricular dysplasia 10.5 SCN5A BAG3
31 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.5 LDB3 DSG2
32 syncope 10.5 TNNT2 SCN5A ACTN2
33 syringocystadenoma papilliferum 10.5 DES ACTC1
34 cardiomyopathy, dilated, 1dd 10.5 TNNT2 RBM20 LDB3
35 mitral valve insufficiency 10.5 TNNT2 MYH7 MYBPC3
36 megacystis-microcolon-intestinal hypoperistalsis syndrome 10.5 DMD DES ACTC1
37 angiolipoma 10.5 DES ACTC1
38 danon disease 10.5 MYH7 MYBPC3 CSRP3
39 glomangioma 10.5 DES ACTC1
40 mobitz type ii atrioventricular block 10.5 TNNT2 MYH7 LDB3 ACTC1
41 lmna-related dilated cardiomyopathy 10.5 RBM20 MYBPC3 BAG3
42 spindle cell lipoma 10.5 DES ACTC1
43 reticulum cell sarcoma 10.4 DES ACTC1
44 brugada syndrome 1 10.4 SCN5A MYBPC3 LDB3
45 myopathy, myofibrillar, 5 10.4 LDB3 DMD CRYAB BAG3
46 myopathy, spheroid body 10.4 MYPN LDB3 DES BAG3
47 cardiomyopathy, dilated, 1a 10.4 RBM20 MYBPC3 BAG3
48 bethlem myopathy 1 10.4 MYH7 FKTN DMD
49 myopathy, myofibrillar, 3 10.4 MYPN LDB3 DMD BAG3
50 ossifying fibromyxoid tumor 10.4 DES ACTC1

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:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dilated cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001644
2 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
3 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
4 lipoatrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100578
5 palmoplantar keratoderma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000982
6 elevated serum creatine kinase 58 31 occasional (7.5%) Occasional (29-5%) HP:0003236
7 emg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0003457
8 abnormality of neutrophils 58 31 occasional (7.5%) Occasional (29-5%) HP:0001874

MGI Mouse Phenotypes related to Familial Isolated Dilated Cardiomyopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.16 ABCC9 ACTC1 BAG3 CSRP3 DES DMD
2 behavior/neurological MP:0005386 10.1 ABCC9 BAG3 CRYAB DES DMD FKTN
3 homeostasis/metabolism MP:0005376 10 ABCC9 ACTC1 BAG3 CRYAB CSRP3 DES
4 mortality/aging MP:0010768 9.83 ABCC9 ACTC1 BAG3 CSRP3 DES DMD
5 muscle MP:0005369 9.58 ABCC9 ACTC1 BAG3 CRYAB CSRP3 DES

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:

40
Heart, Skeletal Muscle, Smooth Muscle, Endothelial

Publications for Familial Isolated Dilated Cardiomyopathy

Articles related to Familial Isolated Dilated Cardiomyopathy:

(show top 50) (show all 380)
# Title Authors PMID Year
1
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. 6 61
20215591 2010
2
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 61 6
19412328 2008
3
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy. 6
31513939 2020
4
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 6
31568572 2019
5
A cardiac α-actin (ACTC1) p. Gly247Asp mutation inhibits SRF-signaling in vitro in neonatal rat cardiomyocytes. 6
31434612 2019
6
Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy. 6
31514951 2019
7
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype. 6
30924982 2019
8
Cardiac α-Actin (ACTC1) Gene Mutation Causes Atrial-Septal Defects Associated With Late-Onset Dilated Cardiomyopathy. 6
31430208 2019
9
Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement. 6
31053406 2019
10
Novel phenotype-genotype correlations of hypertrophic cardiomyopathy caused by mutation in α-actin and myosin-binding protein genes in three unrelated Chinese families. 6
30600190 2019
11
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy. 6
29961767 2019
12
Molecular characterization of Portuguese patients with dilated cardiomyopathy. 6
30871747 2019
13
Whole-exome sequencing reveals doubly novel heterozygous Myosin Binding Protein C and Titin mutations in a Chinese patient with severe dilated cardiomyopathy. 6
30109841 2018
14
Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks. 6
30559338 2018
15
Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation. 6
30535219 2018
16
Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion. 6
30048712 2018
17
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies. 6
30165862 2018
18
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes. 6
29792937 2018
19
Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization. 6
29895960 2018
20
Congenital Titinopathy: Comprehensive characterization and pathogenic insights. 6
29691892 2018
21
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders. 6
29435569 2018
22
Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia. 6
29382405 2018
23
Genetic Etiology for Alcohol-Induced Cardiac Toxicity. 6
29773157 2018
24
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy. 6
29057560 2018
25
Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease. 6
28754666 2018
26
Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy. 6
29540472 2018
27
Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy. 6
29447731 2018
28
Phenotypic Heterogeneity within Members of a Family Carrying the Same RBM20 Mutation R634W. 6
30557877 2018
29
Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy. 6
29029073 2017
30
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy. 6
29255176 2017
31
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy. 6
27796757 2017
32
Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy. 6
28416588 2017
33
A 'second truncation' in TTN causes early onset recessive muscular dystrophy. 6
28716623 2017
34
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. 6
28877744 2017
35
The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy. 6
28493373 2017
36
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. 6
28790153 2017
37
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 6
28859693 2017
38
Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy. 6
29367541 2017
39
Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease. 6
28611029 2017
40
Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. 6
28449774 2017
41
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. 6
28295036 2017
42
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy. 6
27813223 2017
43
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 6
27708273 2017
44
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 6
27532257 2017
45
Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy. 6
27886618 2017
46
Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations. 6
28045975 2017
47
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. 6
28017374 2017
48
Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene. 6
27868403 2017
49
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. 6
28771489 2017
50
Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage. 6
29121657 2017

Variations for Familial Isolated Dilated Cardiomyopathy

ClinVar genetic disease variations for Familial Isolated Dilated Cardiomyopathy:

6 (show top 50) (show all 14937)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNNI3 NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) SNV Pathogenic 43384 rs397516349 GRCh37: 19:55665513-55665513
GRCh38: 19:55154145-55154145
2 RAF1 NM_001354689.3(RAF1):c.788T>A (p.Val263Asp) SNV Pathogenic 496189 rs397516830 GRCh37: 3:12645681-12645681
GRCh38: 3:12604182-12604182
3 SCN5A NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter) SNV Pathogenic 201546 rs757532106 GRCh37: 3:38591991-38591991
GRCh38: 3:38550500-38550500
4 SCN5A NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys) SNV Pathogenic 67633 rs199473097 GRCh37: 3:38648201-38648201
GRCh38: 3:38606710-38606710
5 DMD NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter) SNV Pathogenic 374132 rs201217593 GRCh37: X:31196064-31196064
GRCh38: X:31177947-31177947
6 DMD NM_004006.2(DMD):c.10171C>T (p.Arg3391Ter) SNV Pathogenic 94428 rs398123832 GRCh37: X:31196838-31196838
GRCh38: X:31178721-31178721
7 DMD NM_004006.2(DMD):c.3151C>T (p.Arg1051Ter) SNV Pathogenic 94576 rs398123929 GRCh37: X:32486626-32486626
GRCh38: X:32468509-32468509
8 MYBPC3 NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) SNV Pathogenic 164078 rs727503188 GRCh37: 11:47359095-47359095
GRCh38: 11:47337544-47337544
9 MYBPC3 NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) SNV Pathogenic 164113 rs200411226 GRCh37: 11:47364269-47364269
GRCh38: 11:47342718-47342718
10 TTN-AS1 , TTN NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) SNV Pathogenic 488810 rs869178171 GRCh37: 2:179428202-179428202
GRCh38: 2:178563475-178563475
11 SCN5A NM_198056.2(SCN5A):c.612-229T>G SNV Pathogenic 587531 rs765669597 GRCh37: 3:38655554-38655554
GRCh38: 3:38614063-38614063
12 MYBPC3 NM_000256.3(MYBPC3):c.3190+5G>A SNV Pathogenic 155808 rs587782958 GRCh37: 11:47355103-47355103
GRCh38: 11:47333552-47333552
13 MYH7 NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) SNV Pathogenic 14088 rs3218713 GRCh37: 14:23900677-23900677
GRCh38: 14:23431468-23431468
14 overlap with 2 genes arr[hg19]11p11.2(47339995x2,47343435_47375684x1,47387184x2) copy number loss Pathogenic 635764 GRCh37: 11:47343435-47375684
GRCh38:
15 TTN-AS1 , TTN NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) SNV Pathogenic 202371 rs374140736 GRCh37: 2:179481235-179481235
GRCh38: 2:178616508-178616508
16 TTN-AS1 , TTN NM_001267550.2(TTN):c.68308del (p.Thr22770fs) Deletion Pathogenic 422942 rs1064796112 GRCh37: 2:179443359-179443359
GRCh38: 2:178578632-178578632
17 BAG3 NC_000010.11:g.(?_119676454)_(119677500_?)del Deletion Pathogenic 645351 GRCh37: 10:121435966-121437012
GRCh38: 10:119676454-119677500
18 TTN-AS1 , TTN NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter) SNV Pathogenic 202379 rs754866489 GRCh37: 2:179476842-179476842
GRCh38: 2:178612115-178612115
19 TTN-AS1 , TTN NM_001267550.2(TTN):c.51244dup (p.Tyr17082fs) Duplication Pathogenic 646940 rs1576402791 GRCh37: 2:179475008-179475009
GRCh38: 2:178610281-178610282
20 TTN-AS1 , TTN NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter) SNV Pathogenic 646187 rs72648222 GRCh37: 2:179426040-179426040
GRCh38: 2:178561313-178561313
21 BAG3 NM_004281.3(BAG3):c.514C>T (p.Gln172Ter) SNV Pathogenic 648595 rs1589630001 GRCh37: 10:121431773-121431773
GRCh38: 10:119672261-119672261
22 ABCC9 NM_005691.3(ABCC9):c.3346C>T (p.Arg1116Cys) SNV Pathogenic 35534 rs387907228 GRCh37: 12:21995375-21995375
GRCh38: 12:21842441-21842441
23 BAG3 NM_004281.3(BAG3):c.625C>T (p.Pro209Ser) SNV Pathogenic 657299 rs1589630141 GRCh37: 10:121431884-121431884
GRCh38: 10:119672372-119672372
24 CEP85L and overlap with 1 gene(s) NC_000006.12:g.(?_118548061)_(118559090_?)del Deletion Pathogenic 657898 GRCh37: 6:118869224-118880253
GRCh38: 6:118548061-118559090
25 MYPN NM_032578.3(MYPN):c.3127del (p.Ser1043fs) Deletion Pathogenic 661274 rs1589608098 GRCh37: 10:69955258-69955258
GRCh38: 10:68195501-68195501
26 MYH7 NM_000257.4(MYH7):c.1963C>A (p.Leu655Met) SNV Pathogenic 619177 rs1595084583 GRCh37: 14:23896067-23896067
GRCh38: 14:23426858-23426858
27 DMD NM_004006.2(DMD):c.8800G>T (p.Glu2934Ter) SNV Pathogenic 689489 rs1603222556 GRCh37: X:31496360-31496360
GRCh38: X:31478243-31478243
28 ABCC9 NM_005691.3(ABCC9):c.4572_4573insT (p.Val1525fs) Insertion Pathogenic 192108 rs761784169 GRCh37: 12:21958185-21958186
GRCh38: 12:21805251-21805252
29 TNNT2 NM_001276345.2(TNNT2):c.548G>T (p.Arg183Leu) SNV Pathogenic 691967 rs397516471 GRCh37: 1:201332476-201332476
GRCh38: 1:201363348-201363348
30 DES NM_001927.4(DES):c.1009G>C (p.Ala337Pro) SNV Pathogenic 16820 rs59962885 GRCh37: 2:220285661-220285661
GRCh38: 2:219420939-219420939
31 DMD NM_004006.2(DMD):c.1093C>T (p.Gln365Ter) SNV Pathogenic 193663 rs794726993 GRCh37: X:32663137-32663137
GRCh38: X:32645020-32645020
32 TTN-AS1 , TTN NM_001267550.2(TTN):c.106531+1G>A SNV Pathogenic 617573 rs760915007 GRCh37: 2:179394686-179394686
GRCh38: 2:178529959-178529959
33 TTN-AS1 , TTN NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg) SNV Pathogenic 132134 rs869320741 GRCh37: 2:179410778-179410778
GRCh38: 2:178546051-178546051
34 MYBPC3 NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) SNV Pathogenic 42682 rs397516000 GRCh37: 11:47355233-47355233
GRCh38: 11:47333682-47333682
35 TTN NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter) SNV Pathogenic 801833 rs769097909 GRCh37: 2:179577042-179577042
GRCh38: 2:178712315-178712315
36 TTN NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter) SNV Pathogenic 801834 rs1578126437 GRCh37: 2:179593497-179593497
GRCh38: 2:178728770-178728770
37 TTN NM_001267550.2(TTN):c.669+1G>A SNV Pathogenic 801836 rs1574982376 GRCh37: 2:179664551-179664551
GRCh38: 2:178799824-178799824
38 BAG3 NM_004281.3(BAG3):c.855_859dup (p.Leu287fs) Duplication Pathogenic 373624 rs1057518511 GRCh37: 10:121432110-121432111
GRCh38: 10:119672598-119672599
39 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro) SNV Pathogenic 18329 rs267606629 GRCh37: 15:35082750-35082750
GRCh38: 15:34790549-34790549
40 BAG3 NM_004281.4(BAG3):c.946C>T (p.Gln316Ter) SNV Pathogenic 840339 GRCh37: 10:121436012-121436012
GRCh38: 10:119676500-119676500
41 TTN-AS1 , TTN NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter) SNV Pathogenic 431883 rs1553603394 GRCh37: 2:179435390-179435390
GRCh38: 2:178570663-178570663
42 BAG3 NM_004281.4(BAG3):c.403C>T (p.Gln135Ter) SNV Pathogenic 842686 GRCh37: 10:121429585-121429585
GRCh38: 10:119670073-119670073
43 TTN-AS1 , TTN NM_001267550.2(TTN):c.67349-2A>C SNV Pathogenic 242425 rs753948675 GRCh37: 2:179444577-179444577
GRCh38: 2:178579850-178579850
44 TNNT2 NM_001276345.2(TNNT2):c.616C>T (p.Arg206Trp) SNV Pathogenic 181625 GRCh37: 1:201331144-201331144
GRCh38: 1:201362016-201362016
45 GJD2-DT , ACTC1 NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn) SNV Pathogenic 177917 rs727504399 GRCh37: 15:35086934-35086934
GRCh38: 15:34794733-34794733
46 MYPN NM_032578.4(MYPN):c.295C>T (p.Arg99Ter) SNV Pathogenic 851819 GRCh37: 10:69881490-69881490
GRCh38: 10:68121733-68121733
47 BAG3 NM_004281.4(BAG3):c.974del (p.Pro325fs) Deletion Pathogenic 854159 GRCh37: 10:121436039-121436039
GRCh38: 10:119676527-119676527
48 CEP85L , PLN NM_002667.5(PLN):c.63_64dup (p.Gln22fs) Duplication Pathogenic 202039 rs794729138 GRCh37: 6:118880145-118880146
GRCh38: 6:118558982-118558983
49 TTN-AS1 , TTN NM_001267550.2(TTN):c.60579G>A (p.Trp20193Ter) SNV Pathogenic 859532 GRCh37: 2:179455873-179455873
GRCh38: 2:178591146-178591146
50 TTN-AS1 , TTN NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter) SNV Pathogenic 488732 rs748689777 GRCh37: 2:179425091-179425091
GRCh38: 2:178560364-178560364

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
12.49 TNNT2 SCN5A PLN MYBPC3 DMD DES
2
Show member pathways
12.31 PSEN1 MYH7 ACTN2 ACTC1
3
Show member pathways
12.16 TNNT2 SCN5A PLN MYH7 ACTC1
4 11.81 DSG2 DMD DES ACTN2
5
Show member pathways
11.77 TNNT2 PLN MYH7 MYBPC3 DMD DES
6 11.55 TNNT2 MYH7 ACTC1
7 11.33 SCN5A PLN ABCC9
8 11.27 TNNT2 SCN5A ACTC1
9 10.96 TNNT2 MYBPC3 DMD DES ACTN2 ACTC1

GO Terms for Familial Isolated Dilated Cardiomyopathy

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.37 SCN5A PSEN1 NEXN MYPN MYH7 LDB3
2 cytoskeleton GO:0005856 10.05 NEXN LDB3 DMD DES CSRP3 ACTN2
3 cell surface GO:0009986 9.95 SCN5A PSEN1 DSG2 DMD CRYAB
4 axon GO:0030424 9.83 PSEN1 NEXN MYPN DMD CRYAB
5 filopodium GO:0030175 9.67 DMD ACTN2 ACTC1
6 stress fiber GO:0001725 9.65 MYH7 LDB3 BAG3
7 lateral plasma membrane GO:0016328 9.63 SCN5A DSG2 DMD
8 sarcolemma GO:0042383 9.62 SCN5A PSEN1 DMD DES
9 intercalated disc GO:0014704 9.58 SCN5A DSG2 DES
10 myosin filament GO:0032982 9.57 MYH7 MYBPC3
11 pseudopodium GO:0031143 9.56 LDB3 ACTN2
12 sarcomere GO:0030017 9.56 TNNT2 MYPN MYH7 MYBPC3 CSRP3 ACTN2
13 contractile fiber GO:0043292 9.54 DES CRYAB
14 myofibril GO:0030016 9.54 TNNT2 MYH7 DMD
15 cardiac myofibril GO:0097512 9.46 TNNT2 MYBPC3 DES CRYAB
16 I band GO:0031674 9.43 MYPN CRYAB ACTC1
17 Z disc GO:0030018 9.4 SCN5A PSEN1 NEXN MYPN MYH7 LDB3

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.95 PSEN1 NEXN MYPN MYBPC3 DSG2 ACTN2
2 heart development GO:0007507 9.8 RBM20 PSEN1 LDB3 CSRP3
3 cellular calcium ion homeostasis GO:0006874 9.73 PSEN1 PLN CSRP3
4 muscle organ development GO:0007517 9.71 FKTN DMD CSRP3 CRYAB
5 muscle contraction GO:0006936 9.65 TNNT2 MYH7 DES CRYAB ACTN2
6 regulation of heart contraction GO:0008016 9.63 TNNT2 PLN DES
7 regulation of heart rate GO:0002027 9.61 SCN5A MYH7 DMD
8 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.58 PLN DMD
9 dendrite self-avoidance GO:0070593 9.57 NEXN MYPN
10 regulation of cardiac muscle cell contraction GO:0086004 9.55 SCN5A PLN
11 sarcomere organization GO:0045214 9.55 TNNT2 MYPN LDB3 CSRP3 ACTN2
12 negative regulation of ATPase activity GO:0032780 9.54 TNNT2 PLN
13 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.54 TNNT2 MYH7 MYBPC3
14 cardiac myofibril assembly GO:0055003 9.52 CSRP3 ACTC1
15 response to denervation involved in regulation of muscle adaptation GO:0014894 9.51 SCN5A DMD
16 regulation of the force of heart contraction GO:0002026 9.5 PLN MYH7 CSRP3
17 cardiac muscle contraction GO:0060048 9.5 TNNT2 SCN5A MYH7 MYBPC3 DMD CSRP3
18 muscle filament sliding GO:0030049 9.17 TNNT2 MYH7 MYBPC3 DMD DES ACTN2

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

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.67 TNNT2 MYH7 ACTC1 ABCC9
2 actin filament binding GO:0051015 9.62 NEXN MYH7 DMD ACTN2
3 cytoskeletal protein binding GO:0008092 9.55 MYPN LDB3 DES CRYAB ACTN2
4 muscle alpha-actinin binding GO:0051371 9.46 MYPN LDB3
5 nitric-oxide synthase binding GO:0050998 9.43 SCN5A DMD
6 myosin binding GO:0017022 9.43 MYBPC3 DMD ACTC1
7 titin binding GO:0031432 9.4 MYBPC3 ACTN2
8 structural constituent of muscle GO:0008307 9.35 NEXN MYBPC3 DMD CSRP3 ACTN2
9 actin binding GO:0003779 9.28 TNNT2 NEXN MYPN MYH7 MYBPC3 LDB3

Sources for Familial Isolated Dilated Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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