Familial Isolated Dilated Cardiomyopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: FML304 MIFTS: 40	Familial Isolated Dilated Cardiomyopathy Categories: Cardiovascular diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the circulatory system

Other forms of heart disease

Cardiomyopathy

Dilated cardiomyopathy

External Ids:

ICD10 via Orphanet ³³ I42.0

UMLS via Orphanet ⁷² C0340427

Orphanet ⁵⁸ ORPHA154

SNOMED-CT via HPO ⁶⁸ 129565002 195021004 248315005 more

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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, familial hypertrophic, 4 and left ventricular noncompaction. 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 Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include heart, neutrophil and skeletal muscle, and related phenotypes are dilated cardiomyopathy and sensorineural hearing impairment

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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 92)

#	Related Disease	Score	Top Affiliating Genes
1	cardiomyopathy, familial hypertrophic, 4	30.8	TNNT2 MYBPC3 DMD
2	left ventricular noncompaction	29.4	TNNT2 MYH6 MYBPC3 LDB3 LAMA4 FHL2
3	dilated cardiomyopathy	29.0	TNNT2 MYH6 MYBPC3 LDB3 LAMA4 GATAD1
4	fibroblastic rheumatism	10.7	DES ACTC1
5	ovarian fibrothecoma	10.7	DES ACTC1
6	extracardiac rhabdomyoma	10.7	DMD DES
7	cytoplasmic body myopathy	10.6	DMD DES
8	ischemic fasciitis	10.6	DES ACTC1
9	benign metastasizing leiomyoma	10.6	DES ACTC1
10	cardioneuromyopathy with hyaline masses and nemaline rods	10.6	DMD DES
11	adult cystic nephroma	10.6	DES ACTC1
12	pulmonary vein stenosis	10.6	DES ACTC1
13	autosomal dominant distal myopathy	10.6	DMD DES
14	cutaneous leiomyosarcoma	10.6	DES ACTC1
15	reducing body myopathy	10.6	DMD DES
16	botryoid rhabdomyosarcoma	10.6	DES ACTC1
17	microcolon	10.6	DMD DES
18	familial isolated arrhythmogenic ventricular dysplasia, left dominant form	10.6	LDB3 DSG2
19	familial isolated arrhythmogenic ventricular dysplasia, biventricular form	10.6	LDB3 DSG2
20	rare tumor	10.6	DES ACTC1
21	familial isolated arrhythmogenic ventricular dysplasia, right dominant form	10.6	LDB3 DSG2
22	syringocystadenoma papilliferum	10.6	DES ACTC1
23	parachordoma	10.6	DES ACTC1
24	glomangioma	10.6	DES ACTC1
25	heart septal defect	10.6	TNNT2 MYH6 ACTC1
26	reticulum cell sarcoma	10.6	DES ACTC1
27	myopathy, myofibrillar, 5	10.6	LDB3 CRYAB BAG3
28	myopathy, myofibrillar, 9, with early respiratory failure	10.6	LDB3 CRYAB BAG3
29	myopathy, spheroid body	10.6	LDB3 DES BAG3
30	angiolipoma	10.6	DES ACTC1
31	spindle cell lipoma	10.6	DES ACTC1
32	myopathy, myofibrillar, 3	10.6	LDB3 DMD BAG3
33	ossifying fibromyxoid tumor	10.5	DES ACTC1
34	muscular dystrophy-dystroglycanopathy , type a, 4	10.5	FKTN DOLK DMD
35	muscular disease	10.5	MYH6 FKTN DMD
36	muscular dystrophy-dystroglycanopathy	10.5	FKTN DOLK DMD
37	non-langerhans-cell histiocytosis	10.5	DES ACTC1
38	rigid spine muscular dystrophy 1	10.5	FKTN DMD BAG3
39	mitral valve insufficiency	10.5	TNNT2 MYH6 MYBPC3
40	autosomal recessive limb-girdle muscular dystrophy	10.5	FKTN DMD DES
41	cardiomyopathy, dilated, 1b	10.5	MYH6 MYBPC3 BAG3
42	myopathy, congenital	10.5	MYH6 DMD ACTN2
43	myopathy, myofibrillar, 4	10.5	LDB3 CRYAB BAG3 ACTN2
44	danon disease	10.5	MYH6 MYBPC3 CSRP3
45	noonan syndrome with multiple lentigines	10.5	TNNT2 MYH6 MYBPC3
46	cardiomyopathy, dilated, 1d	10.5	TNNT2 LDB3
47	reducing body myopathy 1a	10.5	LDB3 BAG3
48	myopathy, myofibrillar, 2	10.5	LDB3 DMD CRYAB BAG3
49	atrial fibrillation	10.5	TNNT2 MYBPC3 LAMA4 ABCC9
50	wolff-parkinson-white syndrome	10.5	TNNT2 MYH6 MYBPC3

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

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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	elevated serum creatine kinase ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003236
6	emg abnormality ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003457
7	palmoplantar keratoderma ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000982
8	abnormality of neutrophils ⁵⁸ ³¹	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	GR00240-S-1	9.47	ANKRD1
2	Decreased viability	GR00249-S	9.47	ABCC9 BAG3 FKTN TNNT2
3	Decreased viability	GR00381-A-1	9.47	LDB3 MYBPC3
4	Decreased viability	GR00386-A-1	9.47	BAG3 LAMA4 MYBPC3 MYH6
5	Decreased viability	GR00402-S-2	9.47	DMD LAMA4 MYBPC3

MGI Mouse Phenotypes related to Familial Isolated Dilated Cardiomyopathy:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.24	ABCC9 ACTC1 ANKRD1 BAG3 CAP2 CSRP3
2	behavior/neurological	MP:0005386	10.22	ABCC9 ANKRD1 BAG3 CAP2 CRYAB DES
3	cellular	MP:0005384	10.06	ABCC9 ACTC1 BAG3 CRYAB CSRP3 DES
4	growth/size/body region	MP:0005378	10.03	ABCC9 ACTC1 ANKRD1 BAG3 CAP2 CSRP3
5	homeostasis/metabolism	MP:0005376	10.03	ABCC9 ACTC1 ANKRD1 BAG3 CAP2 CRYAB
6	mortality/aging	MP:0010768	9.8	ABCC9 ACTC1 BAG3 CAP2 CSRP3 DES
7	muscle	MP:0005369	9.53	ABCC9 ACTC1 ANKRD1 BAG3 CAP2 CRYAB

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Drugs & Therapeutics for Familial Isolated Dilated Cardiomyopathy

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

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Genetic Tests for Familial Isolated Dilated Cardiomyopathy

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Anatomical Context for Familial Isolated Dilated Cardiomyopathy

MalaCards organs/tissues related to Familial Isolated Dilated Cardiomyopathy:

⁴⁰

Heart, Neutrophil, Skeletal Muscle, Testes, Endothelial

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Publications for Familial Isolated Dilated Cardiomyopathy

Articles related to Familial Isolated Dilated Cardiomyopathy:

(show top 50) (show all 109)

#	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. ⁶¹ ⁶	Hershberger RE...Gonzalez-Quintana J	20215591	2010
2	Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. ⁶ ⁶¹	Hershberger RE...Litt M	19412328	2008
3	Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ⁶	Kalia SS...Miller DT	27854360	2017
4	D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias. ⁶	Levitas A...Parvari R	26419279	2016
5	HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. ⁶	Hinson JT...Seidman CE	26315439	2015
6	ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ⁶	ACMG Board of Directors	25356965	2015
7	Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study. ⁶	Girolami F...Olivotto I	25173926	2014
8	Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death. ⁶	Bagnall RD...Semsarian C	25224718	2014
9	RAF1 mutations in childhood-onset dilated cardiomyopathy. ⁶	Dhandapany PS...Gelb BD	24777450	2014
10	S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice. ⁶	Rutschow D...Muller OJ	23695275	2014
11	Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. ⁶	Arndt AK...Klaassen S	23768516	2013
12	ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ⁶	Green RC...American College of Medical Genetics and Genomics	23788249	2013
13	Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy. ⁶	Meyer T...German Competence Network Heart Failure	22892539	2013
14	R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. ⁶	Mann SA...Fatkin D	22999724	2012
15	Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q. ⁶	Nair K...Nanthakumar K	22710484	2012
16	Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. ⁶	Laurent G...Probst V	22766342	2012
17	Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. ⁶	Purevjav E...Towbin JA	22286171	2012
18	Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. ⁶	Theis JL...Olson TM	21965549	2011
19	Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. ⁶	Arimura T...Kimura A	21898660	2011
20	Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. ⁶	Probst S...Klaassen S	21551322	2011
21	Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. ⁶	Norton N...Hershberger RE	21353195	2011
22	Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A. ⁶	Ha KN...Robia SL	21282613	2011
23	PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. ⁶	Landstrom AP...Ackerman MJ	21167350	2011
24	Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. ⁶	Levitas A...Parvari R	20551992	2010
25	Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation. ⁶	Luedde M...Frey N	20083571	2010
26	Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. ⁶	Li D...Hershberger RE	20590677	2010
27	Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. ⁶	Chiu C...Semsarian C	20022194	2010
28	Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. ⁶	Hassel D...Rottbauer W	19881492	2009
29	Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient. ⁶	Xiong H...Wu X	19842201	2009
30	Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. ⁶	Brauch KM...Olson TM	19712804	2009
31	Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? ⁶	Bauer R...Straub V	19259135	2009
32	Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. ⁶	Carballo S...Watkins H	19590045	2009
33	Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. ⁶	Menon SC...Olson TM	18651846	2008
34	Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. ⁶	Geier C...Ozcelik C	18505755	2008
35	A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. ⁶	Posch MG...Ozcelik C	18678517	2008
36	Revised spectrum of mutations in sarcoglycanopathies. ⁶	Trabelsi M...Chelly J	18285821	2008
37	Mutations in sarcomere protein genes in left ventricular noncompaction. ⁶	Klaassen S...Thierfelder L	18506004	2008
38	Shared genetic causes of cardiac hypertrophy in children and adults. ⁶	Morita H...Seidman CE	18403758	2008
39	A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids. ⁶	Haghighi K...Kranias EG	18241046	2008
40	Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. ⁶	Duboscq-Bidot L...Villard E	18006477	2008
41	Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. ⁶	Chiu C...Semsarian C	17655857	2007
42	Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. ⁶	Knoll R...Bakkers J	17646580	2007
43	Dilated Cardiomyopathy Overview ⁶	Hershberger RE...Morales A	20301486	2007
44	Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease. ⁶	Syrris P...McKenna WJ	17105751	2007
45	Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes. ⁶	Heydemann A...McNally EM	17164264	2007
46	Mutations of presenilin genes in dilated cardiomyopathy and heart failure. ⁶	Li D...Hershberger RE	17186461	2006
47	Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. ⁶	Theis JL...Ackerman MJ	17097056	2006
48	Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. ⁶	Murakami T...Nishino I	17036286	2006
49	Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. ⁶	Pagnamenta AT...Rahman S	16798039	2006
50	Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc. ⁶	Vasile VC...Ackerman MJ	16949038	2006

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Genes for Familial Isolated Dilated Cardiomyopathy

Genes related to Familial Isolated Dilated Cardiomyopathy (44 elite genes):

(show all 44)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TNNT2	Troponin T2, Cardiac Type	Protein Coding	757.44	Pathogenic ⁶ Causative germline mutation ⁵⁸ GeneCards inferred via : Variants (show sections)	15923195 18506004 8088824 (more) 11106718 18651846 8205619 20083571 20301486 11684629 27854360 15542288 23788249 25356965
2	DSG2	Desmoglein 2	Protein Coding	357.44	Causative germline mutation ⁵⁸ GeneCards inferred via : Variants (show sections)
3	ABCC9	ATP Binding Cassette Subfamily C Member 9	Protein Coding	350	Causative germline mutation ⁵⁸
4	ACTC1	Actin Alpha Cardiac Muscle 1	Protein Coding	350	Causative germline mutation ⁵⁸
5	ACTN2	Actinin Alpha 2	Protein Coding	350	Causative germline mutation ⁵⁸
6	ANKRD1	Ankyrin Repeat Domain 1	Protein Coding	350	Causative germline mutation ⁵⁸
7	BAG3	BAG Cochaperone 3	Protein Coding	350	Causative germline mutation ⁵⁸
8	CAP2	Cyclase Associated Actin Cytoskeleton Regulatory Protein 2	Protein Coding	350	Causative germline mutation ⁵⁸
9	CRYAB	Crystallin Alpha B	Protein Coding	350	Causative germline mutation ⁵⁸
10	CSRP3	Cysteine And Glycine Rich Protein 3	Protein Coding	350	Causative germline mutation ⁵⁸
11	DES	Desmin	Protein Coding	350	Causative germline mutation ⁵⁸
12	DMD	Dystrophin	Protein Coding	350	Causative germline mutation ⁵⁸
13	DOLK	Dolichol Kinase	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
14	FHL2	Four And A Half LIM Domains 2	Protein Coding	350	Causative germline mutation ⁵⁸
15	FKTN	Fukutin	Protein Coding	350	Causative germline mutation ⁵⁸
16	GATAD1	GATA Zinc Finger Domain Containing 1	Protein Coding	350	Causative germline mutation ⁵⁸
17	LAMA4	Laminin Subunit Alpha 4	Protein Coding	350	Causative germline mutation ⁵⁸
18	LDB3	LIM Domain Binding 3	Protein Coding	350	Causative germline mutation ⁵⁸
19	MYBPC3	Myosin Binding Protein C3	Protein Coding	350	Causative germline mutation ⁵⁸
20	MYH6	Myosin Heavy Chain 6	Protein Coding	350	Causative germline mutation ⁵⁸
21	MYH7	Myosin Heavy Chain 7	Protein Coding	350	Causative germline mutation ⁵⁸
22	MYPN	Myopalladin	Protein Coding	350	Causative germline mutation ⁵⁸
23	NEXN	Nexilin F-Actin Binding Protein	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
24	PLN	Phospholamban	Protein Coding	350	Causative germline mutation ⁵⁸
25	PPCS	Phosphopantothenoylcysteine Synthetase	Protein Coding	350	Causative germline mutation ⁵⁸
26	PRDM16	PR/SET Domain 16	Protein Coding	350	Causative germline mutation ⁵⁸
27	PSEN1	Presenilin 1	Protein Coding	350	Causative germline mutation ⁵⁸
28	PSEN2	Presenilin 2	Protein Coding	350	Causative germline mutation ⁵⁸
29	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	350	Causative germline mutation ⁵⁸
30	RBM20	RNA Binding Motif Protein 20	Protein Coding	350	Causative germline mutation ⁵⁸
31	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	350	Causative germline mutation (gain of function) ⁵⁸
32	SDHA	Succinate Dehydrogenase Complex Flavoprotein Subunit A	Protein Coding	350	Causative germline mutation ⁵⁸
33	SGCD	Sarcoglycan Delta	Protein Coding	350	Causative germline mutation ⁵⁸
34	TAF1A	TATA-Box Binding Protein Associated Factor, RNA Polymerase I Subunit A	Protein Coding	350	Causative germline mutation ⁵⁸
35	TAZ	Tafazzin	Protein Coding	350	Causative germline mutation ⁵⁸
36	TCAP	Titin-Cap	Protein Coding	350	Causative germline mutation ⁵⁸
37	TMPO	Thymopoietin	Protein Coding	350	Causative germline mutation ⁵⁸
38	TNNC1	Troponin C1, Slow Skeletal And Cardiac Type	Protein Coding	350	Causative germline mutation ⁵⁸
39	TNNI3	Troponin I3, Cardiac Type	Protein Coding	350	Causative germline mutation ⁵⁸
40	TPM1	Tropomyosin 1	Protein Coding	350	Causative germline mutation ⁵⁸
41	TTN	Titin	Protein Coding	350	Causative germline mutation ⁵⁸
42	TXNRD2	Thioredoxin Reductase 2	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
43	VCL	Vinculin	Protein Coding	350	Causative germline mutation ⁵⁸
44	NEBL	Nebulette	Protein Coding	25	Candidate gene tested ⁵⁸

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Variations for Familial Isolated Dilated Cardiomyopathy

ClinVar genetic disease variations for Familial Isolated Dilated Cardiomyopathy:

⁶ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TNNT2	NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)	SNV	Pathogenic	12414	rs74315379	1:201333464-201333464	1:201364336-201364336
2	DSG2	NM_001943.5(DSG2):c.1361A>C (p.Asp454Ala)	SNV	Uncertain significance	585295	rs1567930368	18:29115313-29115313	18:31535350-31535350

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Expression for Familial Isolated Dilated Cardiomyopathy

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

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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	Cardiac conduction ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.43	TNNT2 MYH6 MYBPC3 DMD DES ACTN2
2	Arrhythmogenic right ventricular cardiomyopathy (ARVC) ³⁶ Show member pathways Arrhythmogenic Right Ventricular Cardiomyopathy ¹	11.74	DSG2 DMD DES ACTN2
3	Dilated cardiomyopathy (DCM) ³⁶ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁶	11.7	TNNT2 MYH6 MYBPC3 DMD DES ACTC1
4	Cardiac muscle contraction ³⁶	11.48	TNNT2 MYH6 ACTC1
5	Cardiac Progenitor Differentiation ¹	11.22	TNNT2 MYH6 ACTC1
6	Striated Muscle Contraction ⁶⁵ ¹	11.02	TNNT2 MYH6 MYBPC3 DMD DES ACTN2

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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	filopodium	GO:0030175	9.58	DMD ACTN2 ACTC1
2	stress fiber	GO:0001725	9.54	MYH6 LDB3 BAG3
3	myofibril	GO:0030016	9.5	MYH6 DMD ANKRD1
4	sarcomere	GO:0030017	9.5	TNNT2 MYH6 MYBPC3 CSRP3 ACTN2 ACTC1
5	myosin filament	GO:0032982	9.48	MYH6 MYBPC3
6	contractile fiber	GO:0043292	9.46	DES CRYAB
7	cardiac myofibril	GO:0097512	9.46	TNNT2 MYBPC3 DES CRYAB
8	pseudopodium	GO:0031143	9.43	LDB3 ACTN2
9	I band	GO:0031674	9.43	CRYAB ANKRD1 ACTC1
10	Z disc	GO:0030018	9.28	MYH6 LDB3 FHL2 DMD DES CSRP3

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	muscle organ development	GO:0007517	9.67	FKTN DMD CSRP3 CRYAB
2	muscle contraction	GO:0006936	9.65	TNNT2 MYH6 DES CRYAB ACTN2
3	cardiac muscle contraction	GO:0060048	9.63	TNNT2 MYH6 MYBPC3 DMD CSRP3 ACTC1
4	regulation of heart contraction	GO:0008016	9.58	TNNT2 MYH6 DES
5	muscle cell cellular homeostasis	GO:0046716	9.54	DMD BAG3
6	actin filament-based movement	GO:0030048	9.52	MYH6 ACTC1
7	regulation of the force of heart contraction	GO:0002026	9.51	MYH6 CSRP3
8	ventricular cardiac muscle tissue morphogenesis	GO:0055010	9.5	TNNT2 MYH6 MYBPC3
9	response to muscle stretch	GO:0035994	9.49	DMD ANKRD1
10	protein kinase C signaling	GO:0070528	9.48	CSRP3 ANKRD1
11	cardiac muscle tissue morphogenesis	GO:0055008	9.46	ANKRD1 ACTC1
12	cardiac myofibril assembly	GO:0055003	9.43	CSRP3 ACTC1
13	sarcomere organization	GO:0045214	9.43	TNNT2 MYH6 LDB3 CSRP3 ANKRD1 ACTN2
14	muscle filament sliding	GO:0030049	9.17	TNNT2 MYH6 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	identical protein binding	GO:0042802	9.91	MYBPC3 FHL2 DES CSRP3 CRYAB CAP2
2	cytoskeletal protein binding	GO:0008092	9.56	LDB3 DES CRYAB ACTN2
3	myosin binding	GO:0017022	9.5	MYBPC3 DMD ACTC1
4	titin binding	GO:0031432	9.33	MYBPC3 ANKRD1 ACTN2
5	structural constituent of muscle	GO:0008307	9.26	MYBPC3 DMD CSRP3 ACTN2
6	actin binding	GO:0003779	9.23	TNNT2 MYH6 MYBPC3 LDB3 DMD CSRP3

Sources

Sources for Familial Isolated Dilated Cardiomyopathy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia