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

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Aliases & Classifications for Familial Isolated Restrictive Cardiomyopathy

MalaCards integrated aliases for Familial Isolated Restrictive Cardiomyopathy:

Name: Familial Isolated Restrictive Cardiomyopathy ⁵⁹ ⁶

Familial or Idiopathic Restrictive Cardiomyopathy ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

familial isolated restrictive cardiomyopathy
Inheritance: Autosomal dominant,Not applicable; 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

Other restrictive cardiomyopathy

External Ids:

Orphanet ⁵⁹ ORPHA75249

ICD10 via Orphanet ³⁴ I42.5

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Summaries for Familial Isolated Restrictive Cardiomyopathy

MalaCards based summary : Familial Isolated Restrictive Cardiomyopathy, also known as familial or idiopathic restrictive cardiomyopathy, is related to gas gangrene and myocardial stunning. An important gene associated with Familial Isolated Restrictive Cardiomyopathy is TNNT2 (Troponin T2, Cardiac Type), and among its related pathways/superpathways are Dilated cardiomyopathy (DCM) and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Related phenotypes are cardiovascular system and muscle

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Related Diseases for Familial Isolated Restrictive Cardiomyopathy

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

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	gas gangrene	10.1	TNNI3 TNNT2
2	myocardial stunning	10.0	TNNI3 TNNT2
3	intermediate coronary syndrome	10.0	TNNI3 TNNT2
4	intrinsic cardiomyopathy	10.0	TNNI3 TNNT2
5	pulmonary embolism	10.0	TNNI3 TNNT2
6	arteries, anomalies of	9.9	TNNI3 TNNT2
7	myopathy, spheroid body	9.9	FLNC MYPN
8	atrial standstill 1	9.9	TNNI3 TNNT2
9	acute myocardial infarction	9.7	TNNI3 TNNT2
10	familial isolated dilated cardiomyopathy	9.4	MYPN TNNI3 TNNT2
11	left ventricular noncompaction	9.3	MYPN TNNT2
12	myopathy	9.0	FLNC MYPN TNNI3
13	restrictive cardiomyopathy	8.8	FLNC MYPN TNNI3 TNNT2
14	hypertrophic cardiomyopathy	8.8	FLNC MYPN TNNI3 TNNT2
15	dilated cardiomyopathy	8.7	FLNC MYPN TNNI3 TNNT2

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

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Symptoms & Phenotypes for Familial Isolated Restrictive Cardiomyopathy

MGI Mouse Phenotypes related to Familial Isolated Restrictive Cardiomyopathy:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.26	FLNC MYPN TNNI3 TNNT2
2	muscle	MP:0005369	8.92	FLNC MYPN TNNI3 TNNT2

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Drugs & Therapeutics for Familial Isolated Restrictive Cardiomyopathy

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

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Genetic Tests for Familial Isolated Restrictive Cardiomyopathy

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Anatomical Context for Familial Isolated Restrictive Cardiomyopathy

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Publications for Familial Isolated Restrictive Cardiomyopathy

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Genes for Familial Isolated Restrictive Cardiomyopathy

Genes related to Familial Isolated Restrictive Cardiomyopathy (5 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TNNT2	Troponin T2, Cardiac Type	Protein Coding	350	Causative germline mutation ⁵⁹
2	TNNI3	Troponin I3, Cardiac Type	Protein Coding	350	Causative germline mutation ⁵⁹
3	MYPN	Myopalladin	Protein Coding	350	Causative germline mutation ⁵⁹
4	KIF20A	Kinesin Family Member 20A	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
5	FLNC	Filamin C	Protein Coding	350	Causative germline mutation ⁵⁹

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Variations for Familial Isolated Restrictive Cardiomyopathy

ClinVar genetic disease variations for Familial Isolated Restrictive Cardiomyopathy:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MYL2	NM_000432.3(MYL2): c.3G> A (p.Met1Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity		GRCh37	Chromosome 12, 111358331: 111358331
2	MYL2	NM_000432.3(MYL2): c.3G> A (p.Met1Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity		GRCh38	Chromosome 12, 110920527: 110920527

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Expression for Familial Isolated Restrictive Cardiomyopathy

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

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Pathways for Familial Isolated Restrictive Cardiomyopathy

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

#	Super pathways	Score	Top Affiliating Genes
1	Dilated cardiomyopathy (DCM) ³⁷ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁷	11.61	TNNI3 TNNT2
2	Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁵	11.45	TNNI3 TNNT2
3	Cytoskeletal Signaling ⁴	11.29	FLNC TNNI3 TNNT2
4	Cardiac muscle contraction ³⁷	11.15	TNNI3 TNNT2
5	Striated Muscle Contraction ¹ ⁶⁶	11.01	TNNI3 TNNT2
6	Cardiac Progenitor Differentiation ¹	10.68	TNNI3 TNNT2

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GO Terms for Familial Isolated Restrictive Cardiomyopathy

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

#	Name	GO ID	Score	Top Affiliating Genes
1	Z disc	GO:0030018	9.37	FLNC MYPN
2	myofibril	GO:0030016	9.32	TNNI3 TNNT2
3	troponin complex	GO:0005861	9.26	TNNI3 TNNT2
4	cardiac myofibril	GO:0097512	9.16	TNNI3 TNNT2
5	cardiac Troponin complex	GO:1990584	8.96	TNNI3 TNNT2
6	sarcomere	GO:0030017	8.8	MYPN TNNI3 TNNT2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	muscle contraction	GO:0006936	9.43	TNNI3 TNNT2
2	cardiac muscle contraction	GO:0060048	9.4	TNNI3 TNNT2
3	sarcomere organization	GO:0045214	9.37	MYPN TNNT2
4	muscle filament sliding	GO:0030049	9.32	TNNI3 TNNT2
5	ventricular cardiac muscle tissue morphogenesis	GO:0055010	9.26	TNNI3 TNNT2
6	skeletal muscle contraction	GO:0003009	9.16	TNNI3 TNNT2
7	regulation of muscle contraction	GO:0006937	8.96	TNNI3 TNNT2
8	negative regulation of ATPase activity	GO:0032780	8.62	TNNI3 TNNT2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeletal protein binding	GO:0008092	9.16	FLNC MYPN
2	actin filament binding	GO:0051015	9.13	FLNC MYPN TNNI3
3	troponin C binding	GO:0030172	8.62	TNNI3 TNNT2

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Sources for Familial Isolated Restrictive Cardiomyopathy

¹ BioSystems

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⁴ Cell Signaling Technology

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⁵⁷ OMIM

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⁶⁰ PathCards

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⁶⁸ SNOMED-CT

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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia