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

MCID: FML304 MIFTS: 35	Familial Isolated Dilated Cardiomyopathy Categories: Rare diseases, Cardiovascular diseases, Genetic diseases
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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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the circulatory system

Other forms of heart disease

Cardiomyopathy

Dilated cardiomyopathy

External Ids:

Orphanet ⁵⁹ ORPHA154

UMLS via Orphanet ⁷⁴ C0340427

ICD10 via Orphanet ³⁴ I42.0

SNOMED-CT via HPO ⁶⁹ 60700002 706885006 195021004 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 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

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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 all 18)

#	Related Disease	Score	Top Affiliating Genes
1	dilated cardiomyopathy	28.1	PLN PSEN1 PSEN2 RAF1 RBM20 SCN5A
2	alzheimer disease 4	10.9	PSEN1 PSEN2
3	early-onset, autosomal dominant alzheimer disease	10.8	PSEN1 PSEN2
4	familial isolated restrictive cardiomyopathy	10.8	TNNI3 TNNT2
5	muscular dystrophy, limb-girdle, type 2f	10.8	SGCD TCAP TTN
6	familial idiopathic basal ganglia calcification	10.7	PSEN1 PSEN2
7	cardiomyopathy, dilated, 1e	10.7	RBM20 SCN5A TPM1 TTN
8	pulmonary valve stenosis	10.7	RBM20 SCN5A
9	cardiac arrest	10.7	PLN SCN5A TNNT2
10	arrhythmogenic right ventricular cardiomyopathy	10.6	PLN RBM20 SCN5A TTN
11	restrictive cardiomyopathy	10.6	TNNI3 TNNT2 TPM1 TTN
12	muscular dystrophy, limb-girdle, type 2h	10.5	TCAP TTN
13	intrinsic cardiomyopathy	10.4	RBM20 SCN5A TNNI3 TNNT2 TPM1 TTN
14	atrial standstill 1	10.3	PLN SCN5A TAZ TNNI3 TNNT2 TTN
15	heart disease	10.3	SCN5A TAZ TNNI3 TNNT2 TTN
16	progressive familial heart block	10.3	SCN5A TNNT2
17	left ventricular noncompaction	10.3	PRDM16 SCN5A TAZ TCAP TNNT2 TPM1
18	hypertrophic cardiomyopathy	9.6	PLN RAF1 SGCD TAZ TCAP TNNC1

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:

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

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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:

⁴¹

Neutrophil

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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 )	Hershberger R.E....Gonzalez-Quintana J.	2010
2	Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. ( 19412328 )	Hershberger R.E....Litt M.	2008

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Genes for Familial Isolated Dilated Cardiomyopathy

Genes related to Familial Isolated Dilated Cardiomyopathy (42 elite genes):

(show all 42)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	350	Causative germline mutation (gain of function) ⁵⁹
2	SDHA	Succinate Dehydrogenase Complex Flavoprotein Subunit A	Protein Coding	350	Causative germline mutation ⁵⁹
3	SGCD	Sarcoglycan Delta	Protein Coding	350	Causative germline mutation ⁵⁹
4	TAF1A	TATA-Box Binding Protein Associated Factor, RNA Polymerase I Subunit A	Protein Coding	350	Causative germline mutation ⁵⁹
5	RBM20	RNA Binding Motif Protein 20	Protein Coding	350	Causative germline mutation ⁵⁹
6	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	350	Causative germline mutation ⁵⁹
7	PRDM16	PR/SET Domain 16	Protein Coding	350	Causative germline mutation ⁵⁹
8	PSEN1	Presenilin 1	Protein Coding	350	Causative germline mutation ⁵⁹
9	PSEN2	Presenilin 2	Protein Coding	350	Causative germline mutation ⁵⁹
10	TAZ	Tafazzin	Protein Coding	350	Causative germline mutation ⁵⁹
11	TCAP	Titin-Cap	Protein Coding	350	Causative germline mutation ⁵⁹
12	TTN	Titin	Protein Coding	350	Causative germline mutation ⁵⁹
13	TXNRD2	Thioredoxin Reductase 2	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
14	VCL	Vinculin	Protein Coding	350	Causative germline mutation ⁵⁹
15	TPM1	Tropomyosin 1	Protein Coding	350	Causative germline mutation ⁵⁹
16	TNNT2	Troponin T2, Cardiac Type	Protein Coding	350	Causative germline mutation ⁵⁹
17	TMPO	Thymopoietin	Protein Coding	350	Causative germline mutation ⁵⁹
18	TNNC1	Troponin C1, Slow Skeletal And Cardiac Type	Protein Coding	350	Causative germline mutation ⁵⁹
19	TNNI3	Troponin I3, Cardiac Type	Protein Coding	350	Causative germline mutation ⁵⁹
20	PLN	Phospholamban	Protein Coding	350	Causative germline mutation ⁵⁹
21	NEXN	Nexilin F-Actin Binding Protein	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
22	CSRP3	Cysteine And Glycine Rich Protein 3	Protein Coding	350	Causative germline mutation ⁵⁹
23	DES	Desmin	Protein Coding	350	Causative germline mutation ⁵⁹
24	DMD	Dystrophin	Protein Coding	350	Causative germline mutation ⁵⁹
25	DOLK	Dolichol Kinase	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
26	CRYAB	Crystallin Alpha B	Protein Coding	350	Causative germline mutation ⁵⁹
27	BAG3	BCL2 Associated Athanogene 3	Protein Coding	350	Causative germline mutation ⁵⁹
28	ACTC1	Actin, Alpha, Cardiac Muscle 1	Protein Coding	350	Causative germline mutation ⁵⁹
29	ACTN2	Actinin Alpha 2	Protein Coding	350	Causative germline mutation ⁵⁹
30	ANKRD1	Ankyrin Repeat Domain 1	Protein Coding	350	Causative germline mutation ⁵⁹
31	ABCC9	ATP Binding Cassette Subfamily C Member 9	Protein Coding	350	Causative germline mutation ⁵⁹
32	DSG2	Desmoglein 2	Protein Coding	350	Causative germline mutation ⁵⁹
33	MYH6	Myosin Heavy Chain 6	Protein Coding	350	Causative germline mutation ⁵⁹
34	MYH7	Myosin Heavy Chain 7	Protein Coding	350	Causative germline mutation ⁵⁹
35	MYPN	Myopalladin	Protein Coding	350	Causative germline mutation ⁵⁹
36	MYBPC3	Myosin Binding Protein C, Cardiac	Protein Coding	350	Causative germline mutation ⁵⁹
37	LDB3	LIM Domain Binding 3	Protein Coding	350	Causative germline mutation ⁵⁹
38	FKTN	Fukutin	Protein Coding	350	Causative germline mutation ⁵⁹
39	FHL2	Four And A Half LIM Domains 2	Protein Coding	350	Causative germline mutation ⁵⁹
40	GATAD1	GATA Zinc Finger Domain Containing 1	Protein Coding	350	Causative germline mutation ⁵⁹
41	LAMA4	Laminin Subunit Alpha 4	Protein Coding	350	Causative germline mutation ⁵⁹
42	NEBL	Nebulette	Protein Coding	25	Candidate gene tested ⁵⁹

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Variations for Familial Isolated Dilated Cardiomyopathy

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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	Aldosterone synthesis and secretion ³⁷ Show member pathways Adrenergic signaling in cardiomyocytes ³⁷ Ca2+ activated K+ channels ⁶⁶ Cortisol synthesis and secretion ³⁷ Cushing's syndrome ³⁷ Insulin secretion ³⁷ Melanogenesis ³⁷ Thyroid hormone synthesis ³⁷	12.73	PLN RAF1 SCN5A TNNC1 TNNI3 TNNT2
2	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.54	PLN SCN5A TCAP TNNC1 TNNI3 TNNT2
3	Cytoskeletal Signaling ⁴	12.25	TMPO TNNI3 TNNT2 TPM1 VCL
4	Dilated cardiomyopathy (DCM) ³⁷ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁷	11.74	PLN SGCD TNNC1 TNNI3 TNNT2 TPM1
5	Cardiac muscle contraction ³⁷	11.45	TNNC1 TNNI3 TNNT2 TPM1
6	Cardiac Progenitor Differentiation ¹	11.33	SCN5A TNNI3 TNNT2
7	Striated Muscle Contraction ¹ ⁶⁶	10.96	TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN
8	Notch Pathway ⁷²	10.1	PSEN1 PSEN2

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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	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

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Sources for Familial Isolated Dilated Cardiomyopathy

¹ BioSystems

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⁵⁹ Orphanet

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⁶⁶ Reactome

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

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⁷³ UMLS

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia