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

MCID: FML293 MIFTS: 42	Familial Isolated Restrictive 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 Restrictive Cardiomyopathy

MalaCards integrated aliases for Familial Isolated Restrictive Cardiomyopathy:

Name: Familial Isolated Restrictive Cardiomyopathy ⁵⁸ ⁶

Familial or Idiopathic Restrictive Cardiomyopathy ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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: ³³

Diseases of the circulatory system

Other forms of heart disease

Cardiomyopathy

Other restrictive cardiomyopathy

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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 cardiomyopathy, familial hypertrophic, 10 and cardiomyopathy, familial restrictive, 2. An important gene associated with Familial Isolated Restrictive Cardiomyopathy is FLNC (Filamin C), and among its related pathways/superpathways are cGMP-PKG signaling pathway and Cytoskeletal Signaling. Affiliated tissues include heart, and related phenotypes are abnormal left ventricular function and right atrial enlargement

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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 top 50) (show all 54)

#	Related Disease	Score	Top Affiliating Genes
1	cardiomyopathy, familial hypertrophic, 10	10.2	MYL2 LOC114827850
2	cardiomyopathy, familial restrictive, 2	10.2	MYPN FLNC
3	myopathy, spheroid body	10.1	MYPN FLNC
4	mitochondrial dna depletion syndrome 12b	10.1	MYPN FLNC
5	myopathy, myofibrillar, 3	10.1	MYPN FLNC
6	cardiomyopathy, dilated, 1m	10.1	TNNI3 MYL2
7	congenital structural myopathy	10.1	MYPN FLNC
8	myasthenic syndrome, congenital, 12	10.1	TNNT2 MYL2
9	tibial muscular dystrophy	10.1	MYPN FLNC
10	rheumatic myocarditis	10.1	TNNT2 TNNI3
11	silent myocardial infarction	10.1	TNNT2 TNNI3
12	hemifacial hyperplasia	10.0	FLNC-AS1 FLNC
13	left bundle branch hemiblock	10.0	TNNT2 TNNI3
14	cardiomyopathy, familial hypertrophic, 26	10.0	FLNC-AS1 FLNC
15	myopathy, distal, 4	10.0	FLNC-AS1 FLNC
16	gas gangrene	10.0	TNNT2 TNNI3
17	tricuspid valve disease	10.0	TNNT2 TNNI3
18	myocardial stunning	10.0	TNNT2 TNNI3
19	acute myocarditis	10.0	TNNT2 TNNI3
20	mitral valve insufficiency	10.0	TNNT2 TNNI3
21	pericardium disease	10.0	TNNT2 TNNI3
22	pulmonary artery disease	10.0	TNNT2 TNNI3
23	intermediate coronary syndrome	10.0	TNNT2 TNNI3
24	myopathy, myofibrillar, 2	9.9	FLNC CRYAB
25	infective endocarditis	9.9	TNNT2 TNNI3
26	arrhythmogenic right ventricular cardiomyopathy	9.9	MYPN MYL2 FLNC
27	cardiomyopathy, familial restrictive, 3	9.9	TNNT2 MYPN FLNC
28	pericarditis	9.9	TNNT2 TNNI3
29	primary cutaneous amyloidosis	9.9	TNNT2 TNNI3 MYL2
30	extrinsic cardiomyopathy	9.8	TNNT2 TNNI3
31	pulmonary edema	9.8	TNNT2 TNNI3
32	progressive familial heart block	9.8	TNNT2 FLNC-AS1 FLNC
33	cardiomyopathy, dilated, 1b	9.8	TNNT2 FLNC-AS1 FLNC
34	brugada syndrome	9.8	TNNT2 TNNI3 MYL2
35	myopathy, myofibrillar, 4	9.7	MYPN FLNC CRYAB
36	myopathy, myofibrillar, 1	9.7	MYPN FLNC CRYAB
37	myopathy, myofibrillar, 9, with early respiratory failure	9.7	MYPN FLNC CRYAB
38	atrioventricular block	9.7	TNNI3 CRYAB
39	intrinsic cardiomyopathy	9.7	TNNT2 TNNI3 MYL2 FLNC
40	cardiomyopathy, familial restrictive, 1	9.7	TNNI3 MYPN CRYAB
41	wolff-parkinson-white syndrome	9.7	TNNT2 TNNI3
42	myopathy, myofibrillar, 5	9.6	FLNC-AS1 FLNC CRYAB
43	congestive heart failure	9.6	TNNT2 TNNI3 CRYAB
44	patent foramen ovale	9.5	TNNT2 TNNI3 FLNC-AS1 FLNC
45	left ventricular noncompaction	9.5	TNNT2 TNNI3 MYPN MYL2 FLNC
46	myofibrillar myopathy	9.4	MYPN FLNC-AS1 FLNC CRYAB
47	heart conduction disease	9.3	TNNT2 TNNI3 MYL2 FLNC-AS1 FLNC
48	cardiomyopathy, familial hypertrophic, 1	9.2	TNNT2 TNNI3 MYL2 LOC114827850 FLNC-AS1 FLNC
49	familial isolated dilated cardiomyopathy	9.1	TNNT2 TNNI3 MYPN MYL2 CRYAB
50	atrial standstill 1	9.1	TNNT2 TNNI3 MYL2 LOC114827850 FLNC CRYAB

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

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Symptoms & Phenotypes for Familial Isolated Restrictive Cardiomyopathy

Human phenotypes related to Familial Isolated Restrictive Cardiomyopathy:

³¹ ⁵⁸ (show all 21)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	abnormal left ventricular function ³¹	hallmark (90%)		HP:0005162
2	right atrial enlargement ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0030718
3	left atrial enlargement ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0031295
4	pulmonary venous hypertension ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0030950
5	interstitial cardiac fibrosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0031329
6	hepatomegaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002240
7	recurrent respiratory infections ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002205
8	postnatal growth retardation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0008897
9	hypertrophic cardiomyopathy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001639
10	mitral regurgitation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001653
11	atrial fibrillation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005110
12	tricuspid regurgitation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005180
13	peripheral edema ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0012398
14	pulmonary edema ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100598
15	orthopnea ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0012764
16	stroke ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001297
17	syncope ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001279
18	thromboembolism ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001907
19	supraventricular arrhythmia ⁵⁸		Occasional (29-5%)
20	dyspnea ⁵⁸		Occasional (29-5%)
21	left ventricular dysfunction ⁵⁸		Very frequent (99-80%)

MGI Mouse Phenotypes related to Familial Isolated Restrictive Cardiomyopathy:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	9.1	CRYAB FLNC MYL2 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

MalaCards organs/tissues related to Familial Isolated Restrictive Cardiomyopathy:

⁴⁰

Heart

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Publications for Familial Isolated Restrictive Cardiomyopathy

Articles related to Familial Isolated Restrictive Cardiomyopathy:

(show top 50) (show all 135)

#	Title	Authors	PMID	Year
1	Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy. ⁶	Gigli M...Mestroni L	31514951	2019
2	Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures. ⁶	Begay RL...Taylor MRG	30067491	2018
3	Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy. ⁶	Janin A...Millat G	28436997	2017
4	Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. ⁶	Burns C...Ingles J	28790153	2017
5	Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy. ⁶	Long PA...Olson TM	29367541	2017
6	Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. ⁶	Walsh R...Watkins H	27532257	2017
7	Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. ⁶	Miyatake S...Matsumoto N	28017374	2017
8	Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage. ⁶	Viswanathan SK...Sadayappan S	29121657	2017
9	Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C. ⁶	Reinstein E...Lopez-Otin C	27601210	2016
10	Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. ⁶	Ortiz-Genga MF...Monserrat L	27908349	2016
11	FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy. ⁶	Begay RL...Taylor MR	28008423	2016
12	Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation. ⁶	Messer AE...Marston SB	27036851	2016
13	FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency. ⁶	Ruparelia AA...Bryson-Richardson RJ	26969713	2016
14	Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. ⁶	Cuenca S...Inherited Cardiac Diseases Program of the Spanish Cardiovascular Research Network (Red Investigacion Cardiovascular)	26899768	2016
15	Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. ⁶	Murphy SL...Bos JM	26914223	2016
16	Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene. ⁶	Ripoll-Vera T...Rosell J	26507537	2016
17	Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy. ⁶	Long PA...Olson TM	26656454	2015
18	Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. ⁶	Ghaoui R...Clarke NF	26436962	2015
19	Myofibrillar instability exacerbated by acute exercise in filaminopathy. ⁶	Chevessier F...Schroder R	26472074	2015
20	Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin. ⁶	Pan S...Ashley EA	26498512	2015
21	A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. ⁶	Tian T...Song L	24691700	2015
22	Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy. ⁶	Golbus JR...McNally EM	25179549	2014
23	Prioritizing causal disease genes using unbiased genomic features. ⁶	Deo RC...Roth FP	25633252	2014
24	Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. ⁶	Coppini R...Olivotto I	25524337	2014
25	Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. ⁶	Valdes-Mas R...Lopez-Otin C	25351925	2014
26	Genetics of hypertrophic cardiomyopathy in Norway. ⁶	Berge KE...Leren TP	24111713	2014
27	Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. ⁶	Helms AS...Day SM	25031304	2014
28	The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. ⁶	Pugh TJ...Funke BH	24503780	2014
29	Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. ⁶	Bos JM...Ackerman MJ	24793961	2014
30	Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy. ⁶	Moore RK...Tardiff JC	24480310	2014
31	Hypertrophic cardiomyopathy: one gene … but many phenotypes. ⁶	Maron BJ...Goodman JS	24792744	2014
32	A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM). ⁶	Rani DS...Thangaraj K	24992688	2014
33	Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. ⁶	Merlo M...Familial Cardiomyopathy Registry	24119082	2013
34	Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy. ⁶	Fujita E...Matsuoka R	23494605	2013
35	A systematic approach to assessing the clinical significance of genetic variants. ⁶	Duzkale H...Lebo MS	24033266	2013
36	Cardiac muscle activation blunted by a mutation to the regulatory component, troponin T. ⁶	Kobayashi M...Kobayashi T	23897817	2013
37	Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy. ⁶	Liu W...Tong Q	23711808	2013
38	Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. ⁶	Memo M...Messer AE	23539503	2013
39	Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. ⁶	Zou Y...Hui R	23283745	2013
40	Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. ⁶	van Spaendonck-Zwarts KY...van Tintelen JP	23349452	2013
41	Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210. ⁶	Bai F...Kawai M	23663841	2013
42	Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. ⁶	Lopes LR...Elliott PM	23396983	2013
43	Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy. ⁶	Meyer T...German Competence Network Heart Failure	22892539	2013
44	Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. ⁶	Kassem HSh...Yacoub MH	23233322	2013
45	Usefulness of running wheel for detection of congestive heart failure in dilated cardiomyopathy mouse model. ⁶	Sugihara M...Kurebayashi N	23383212	2013
46	Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. ⁶	Campbell N...Taylor MR	24205113	2013
47	Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin. ⁶	Sommese RF...Ruppel KM	24367593	2013
48	Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. ⁶	Brito D...Madeira H	22857948	2012
49	Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. ⁶	Kley RA...Furst DO	22961544	2012
50	High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. ⁶	Rani DS...Thangaraj K	22876777	2012

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Genes for Familial Isolated Restrictive Cardiomyopathy

Genes related to Familial Isolated Restrictive Cardiomyopathy (7 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FLNC	Filamin C	Protein Coding	775	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶	25633252 27908349 25179549 (more) 26969713 22961544 26472074 15929027 27601210 28436997 28008423 30067491 21520333 26436962 25351925 26666891
2	MYPN	Myopalladin	Protein Coding	775	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶	18006477 28017374 22286171
3	TNNI3	Troponin I3, Cardiac Type	Protein Coding	775	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶	12531876 10098965 12860912 (more) 15607392 15698845 21511876 22876777
4	TNNT2	Troponin T2, Cardiac Type	Protein Coding	775	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶	24033266 11034944 27532257 (more) 21310275 23663841 20978592 12923187 23383212 22675533 11773635 12186860 11106718 20079745 15923195 15623536 23539503 17932326 19324435 24367593 24205113 22517884 24503780 29367541 18506004 24119082 21551322 15542288 23283745 12974739 15958377 20057144 23233322 24793961 10085122 10617660 18651846 11060291 11113119 21683708 8205619 26914223 20439259 12707239 23396983 22857948 19087273 24691700 22144547 7898523 9060892 8951566 16326803 18403758 11606294 11158969 10449439 9788962 25524337 19487599 10525521 24111713 22112859 14654368 20624503 10978365 20031602 14722098 23711808 20973921 21846512 18349139 26656454 15769782 11684629 18606313 24992688 26507537 22334656 9201030 23494605 14636924 15563892 17456375 2003160 21245263 27036851 11560853 10850966 9637714 15568820 26899768 31514951 26498512 23897817 22260945 22579624 10731693 24792744 24480310 16651346 18032382 23349452 20031601 12860912 25031304 20159828 29121657 15464434 22292720 28790153 9140840
5	FLNC-AS1	FLNC Antisense RNA 1	RNA Gene	425	Pathogenic ⁶ Likely pathogenic ⁶	26969713 22961544 26472074 (more) 15929027 28008423 27908349 25351925
6	CRYAB	Crystallin Alpha B	Protein Coding	400	Pathogenic ⁶
7	KIF20A	Kinesin Family Member 20A	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	29357359
8	LOC114827850	VISTA Enhancer Hs2149	Biological Region	32.35	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
9	MYL2	Myosin Light Chain 2	Protein Coding	32.35	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)

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Variations for Familial Isolated Restrictive Cardiomyopathy

ClinVar genetic disease variations for Familial Isolated Restrictive Cardiomyopathy:

⁶ (show top 50) (show all 2298)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TNNT2	TNNT2, 3-BP DEL, 285GGA	Deletion	Pathogenic	12418		GRCh37: GRCh38:
2	FLNC	NM_001458.4(FLNC):c.368T>C (p.Val123Ala)	SNV	Pathogenic	253125	rs1562991002	GRCh37: 7:128475395-128475395 GRCh38: 7:128835341-128835341
3	FLNC	NM_001458.4(FLNC):c.4615G>A (p.Ala1539Thr)	SNV	Pathogenic	253123	rs1562999443	GRCh37: 7:128488649-128488649 GRCh38: 7:128848595-128848595
4	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.6943C>A (p.His2315Asn)	SNV	Pathogenic	253124	rs1563003848	GRCh37: 7:128494682-128494682 GRCh38: 7:128854628-128854628
5	TNNI3	NM_000363.5(TNNI3):c.431T>A (p.Leu144Gln)	SNV	Pathogenic	12428	rs121917760	GRCh37: 19:55665516-55665516 GRCh38: 19:55154148-55154148
6	FLNC	NC_000007.14:g.128845989del	Deletion	Pathogenic	931563		GRCh37: 7:128486043-128486043 GRCh38: 7:128845989-128845989
7	FLNC	NM_001458.4(FLNC):c.4716del (p.Leu1573fs)	Deletion	Pathogenic	478127	rs1554400021	GRCh37: 7:128488747-128488747 GRCh38: 7:128848693-128848693
8	FLNC	NM_001458.4(FLNC):c.774del (p.Lys259fs)	Deletion	Pathogenic	478133	rs1554397506	GRCh37: 7:128477523-128477523 GRCh38: 7:128837469-128837469
9	FLNC	NM_001458.4(FLNC):c.2390-10_2406del	Deletion	Pathogenic	478125	rs1554398674	GRCh37: 7:128482836-128482862 GRCh38: 7:128842782-128842808
10	FLNC	NM_001458.4(FLNC):c.3557C>T (p.Ala1186Val)	SNV	Pathogenic	427928	rs1114167361	GRCh37: 7:128485076-128485076 GRCh38: 7:128845022-128845022
11	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.7294C>T (p.Gln2432Ter)	SNV	Pathogenic	478131	rs1554401756	GRCh37: 7:128496614-128496614 GRCh38: 7:128856560-128856560
12	FLNC	NM_001458.4(FLNC):c.4926_4927insACGTCACA (p.Val1643fs)	Insertion	Pathogenic	478128	rs1402879259	GRCh37: 7:128489028-128489029 GRCh38: 7:128848974-128848975
13	FLNC	NM_001458.4(FLNC):c.1519_1525del (p.Gly507fs)	Deletion	Pathogenic	478121	rs1554398092	GRCh37: 7:128480181-128480187 GRCh38: 7:128840127-128840133
14	FLNC	NM_001458.4(FLNC):c.3934_3937dup (p.Arg1313fs)	Duplication	Pathogenic	478126	rs1554399513	GRCh37: 7:128486183-128486184 GRCh38: 7:128846129-128846130
15	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.6976C>T (p.Arg2326Ter)	SNV	Pathogenic	478129	rs748416758	GRCh37: 7:128494715-128494715 GRCh38: 7:128854661-128854661
16	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.7371del (p.Glu2458fs)	Deletion	Pathogenic	478132	rs1554401780	GRCh37: 7:128496691-128496691 GRCh38: 7:128856637-128856637
17	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.7251+1G>A	SNV	Pathogenic	539340	rs1554401581	GRCh37: 7:128495369-128495369 GRCh38: 7:128855315-128855315
18	FLNC	NM_001458.4(FLNC):c.5165del (p.Gly1722fs)	Deletion	Pathogenic	539390	rs1554400242	GRCh37: 7:128489594-128489594 GRCh38: 7:128849540-128849540
19	FLNC	NM_001458.4(FLNC):c.805C>T (p.Arg269Ter)	SNV	Pathogenic	539411	rs755583250	GRCh37: 7:128477557-128477557 GRCh38: 7:128837503-128837503
20	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.7496_7497insTGCT (p.Gln2499fs)	Insertion	Pathogenic	539334	rs1554401830	GRCh37: 7:128496910-128496911 GRCh38: 7:128856856-128856857
21	FLNC	NM_001458.4(FLNC):c.1605C>A (p.Cys535Ter)	SNV	Pathogenic	539354	rs199976790	GRCh37: 7:128480657-128480657 GRCh38: 7:128840603-128840603
22	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.7536_7548del (p.Pro2513fs)	Deletion	Pathogenic	539437	rs1554401837	GRCh37: 7:128496949-128496961 GRCh38: 7:128856895-128856907
23	FLNC	NM_001458.4(FLNC):c.2065G>T (p.Glu689Ter)	SNV	Pathogenic	539448	rs1446694237	GRCh37: 7:128481565-128481565 GRCh38: 7:128841511-128841511
24	FLNC	NM_001458.4(FLNC):c.444G>A (p.Trp148Ter)	SNV	Pathogenic	539439	rs1554397197	GRCh37: 7:128475471-128475471 GRCh38: 7:128835417-128835417
25	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.5697dup (p.Ser1900fs)	Duplication	Pathogenic	539446	rs1554400700	GRCh37: 7:128491536-128491537 GRCh38: 7:128851482-128851483
26	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.5653A>T (p.Lys1885Ter)	SNV	Pathogenic	567717	rs1563001456	GRCh37: 7:128491399-128491399 GRCh38: 7:128851345-128851345
27	FLNC	NM_001458.4(FLNC):c.4333_4336del (p.Gly1444_Lys1445insTer)	Deletion	Pathogenic	571885	rs1562998858	GRCh37: 7:128487793-128487796 GRCh38: 7:128847739-128847742
28	FLNC	NM_001127487.2(FLNC):c.147delinsTCT (p.Lys51fs)	Indel	Pathogenic	567163	rs1562988883	GRCh37: 7:128470838-128470838 GRCh38: 7:128830784-128830784
29	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.6447del (p.Ile2150fs)	Deletion	Pathogenic	574095	rs1563003153	GRCh37: 7:128493853-128493853 GRCh38: 7:128853799-128853799
30	FLNC	NM_001458.4(FLNC):c.4621A>T (p.Lys1541Ter)	SNV	Pathogenic	577928	rs1562999451	GRCh37: 7:128488655-128488655 GRCh38: 7:128848601-128848601
31	FLNC	NM_001458.4(FLNC):c.1444C>T (p.Arg482Ter)	SNV	Pathogenic	517207	rs1420159591	GRCh37: 7:128480109-128480109 GRCh38: 7:128840055-128840055
32	FLNC	NM_001458.4(FLNC):c.3937C>T (p.Arg1313Ter)	SNV	Pathogenic	579589	rs766330686	GRCh37: 7:128486190-128486190 GRCh38: 7:128846136-128846136
33	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.5672delG	Deletion	Pathogenic	567017	rs1563001548	GRCh37: 7:128491508-128491508 GRCh38: 7:128851454-128851454
34	FLNC	NM_001458.4(FLNC):c.3557C>T (p.Ala1186Val)	SNV	Pathogenic	427928	rs1114167361	GRCh37: 7:128485076-128485076 GRCh38: 7:128845022-128845022
35	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.5904dup (p.Ile1969fs)	Duplication	Pathogenic	640320	rs1585167678	GRCh37: 7:128492705-128492706 GRCh38: 7:128852651-128852652
36	FLNC and overlap with 1 gene(s)	NC_000007.14:g.(?_128830618)_(128858543_?)del	Deletion	Pathogenic	584412		GRCh37: 7:128470672-128498597 GRCh38: 7:128830618-128858543
37	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.6883C>T (p.Gln2295Ter)	SNV	Pathogenic	642313	rs1585169831	GRCh37: 7:128494622-128494622 GRCh38: 7:128854568-128854568
38	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.7365C>A (p.Tyr2455Ter)	SNV	Pathogenic	651699	rs540386120	GRCh37: 7:128496685-128496685 GRCh38: 7:128856631-128856631
39	FLNC	NM_001458.4(FLNC):c.4729C>T (p.Gln1577Ter)	SNV	Pathogenic	645256	rs1585163755	GRCh37: 7:128488763-128488763 GRCh38: 7:128848709-128848709
40	FLNC	NM_001458.4(FLNC):c.4127+1G>T	SNV	Pathogenic	643473	rs1346981294	GRCh37: 7:128486518-128486518 GRCh38: 7:128846464-128846464
41	FLNC	NM_001458.4(FLNC):c.554G>A (p.Trp185Ter)	SNV	Pathogenic	643595	rs1585151331	GRCh37: 7:128475581-128475581 GRCh38: 7:128835527-128835527
42	FLNC-AS1 , FLNC	NM_001127487.2(FLNC):c.7235_7236AC[2] (p.Pro2414fs)	Microsatellite	Pathogenic	659634	rs1585171628	GRCh37: 7:128496653-128496654 GRCh38: 7:128856599-128856600
43	FLNC	NM_001458.4(FLNC):c.1861_1885dup (p.Arg629fs)	Duplication	Pathogenic	663736	rs1585156327	GRCh37: 7:128481269-128481270 GRCh38: 7:128841215-128841216
44	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.6242dup (p.Ser2082fs)	Duplication	Pathogenic	661219	rs1585168573	GRCh37: 7:128493553-128493554 GRCh38: 7:128853499-128853500
45	MYPN	NM_032578.3(MYPN):c.3127del (p.Ser1043fs)	Deletion	Pathogenic	661274	rs1589608098	GRCh37: 10:69955258-69955258 GRCh38: 10:68195501-68195501
46	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.5675_5678del (p.Leu1892fs)	Deletion	Pathogenic	660879	rs1585166614	GRCh37: 7:128491512-128491515 GRCh38: 7:128851458-128851461
47	FLNC	NC_000007.14:g.(?_128848551)_(128848992_?)del	Deletion	Pathogenic	830847		GRCh37: 7:128488605-128489046 GRCh38:
48	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.6753dup (p.Ala2252fs)	Duplication	Pathogenic	837501		GRCh37: 7:128494491-128494492 GRCh38: 7:128854437-128854438
49	FLNC	NM_001458.4(FLNC):c.3699del (p.Val1235fs)	Deletion	Pathogenic	834916		GRCh37: 7:128485218-128485218 GRCh38: 7:128845164-128845164
50	FLNC	NM_001458.4(FLNC):c.3084C>A (p.Tyr1028Ter)	SNV	Pathogenic	841507		GRCh37: 7:128484212-128484212 GRCh38: 7:128844158-128844158

Sources

Expression for Familial Isolated Restrictive Cardiomyopathy

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

Sources

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	cGMP-PKG signaling pathway ³⁶ Show member pathways Adrenergic signaling in cardiomyocytes ³⁶	12.05	TNNT2 TNNI3 MYL2
2	Cytoskeletal Signaling ⁴	11.99	TNNT2 TNNI3 FLNC
3	Dilated cardiomyopathy ³⁶ Show member pathways Hypertrophic cardiomyopathy ³⁶	11.7	TNNT2 TNNI3 MYL2
4	Cardiac muscle contraction ³⁶	11.27	TNNT2 TNNI3 MYL2
5	Striated Muscle Contraction ⁶⁵ ¹	10.99	TNNT2 TNNI3 MYL2
6	Cardiac Progenitor Differentiation ¹	10.52	TNNT2 TNNI3 MYL2

Sources

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	9.54	MYPN FLNC CRYAB
2	I band	GO:0031674	9.43	MYPN CRYAB
3	contractile fiber	GO:0043292	9.4	TNNI3 CRYAB
4	myofibril	GO:0030016	9.33	TNNT2 TNNI3 MYL2
5	troponin complex	GO:0005861	9.32	TNNT2 TNNI3
6	cardiac Troponin complex	GO:1990584	9.26	TNNT2 TNNI3
7	sarcomere	GO:0030017	9.26	TNNT2 TNNI3 MYPN MYL2
8	cardiac myofibril	GO:0097512	8.92	TNNT2 TNNI3 MYL2 CRYAB

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cardiac muscle contraction	GO:0060048	9.43	TNNT2 TNNI3
2	sarcomere organization	GO:0045214	9.4	TNNT2 MYPN
3	regulation of muscle contraction	GO:0006937	9.37	TNNT2 TNNI3
4	muscle contraction	GO:0006936	9.33	TNNT2 TNNI3 CRYAB
5	heart contraction	GO:0060047	9.32	TNNI3 MYL2
6	negative regulation of ATPase activity	GO:0032780	9.26	TNNT2 TNNI3
7	muscle filament sliding	GO:0030049	9.13	TNNT2 TNNI3 MYL2
8	ventricular cardiac muscle tissue morphogenesis	GO:0055010	8.8	TNNT2 TNNI3 MYL2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	actin binding	GO:0003779	9.46	TNNT2 TNNI3 MYPN FLNC
2	cytoskeletal protein binding	GO:0008092	9.13	MYPN FLNC CRYAB
3	troponin C binding	GO:0030172	8.62	TNNT2 TNNI3

Sources

Sources for Familial Isolated Restrictive 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 GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

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 Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Familial Isolated Restrictive Cardiomyopathy

Aliases & Classifications for Familial Isolated Restrictive Cardiomyopathy

MalaCards integrated aliases for Familial Isolated Restrictive Cardiomyopathy:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Familial Isolated Restrictive Cardiomyopathy

Related Diseases for Familial Isolated Restrictive Cardiomyopathy

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

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

Symptoms & Phenotypes for Familial Isolated Restrictive Cardiomyopathy

Human phenotypes related to Familial Isolated Restrictive Cardiomyopathy:

MGI Mouse Phenotypes related to Familial Isolated Restrictive Cardiomyopathy:

Drugs & Therapeutics for Familial Isolated Restrictive Cardiomyopathy

Genetic Tests for Familial Isolated Restrictive Cardiomyopathy

Anatomical Context for Familial Isolated Restrictive Cardiomyopathy

MalaCards organs/tissues related to Familial Isolated Restrictive Cardiomyopathy:

Publications for Familial Isolated Restrictive Cardiomyopathy

Articles related to Familial Isolated Restrictive Cardiomyopathy:

Genes for Familial Isolated Restrictive Cardiomyopathy

Genes related to Familial Isolated Restrictive Cardiomyopathy (7 elite genes):

Variations for Familial Isolated Restrictive Cardiomyopathy

ClinVar genetic disease variations for Familial Isolated Restrictive Cardiomyopathy:

Expression for Familial Isolated Restrictive Cardiomyopathy

Pathways for Familial Isolated Restrictive Cardiomyopathy

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

GO Terms for Familial Isolated Restrictive Cardiomyopathy

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

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

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

Sources for Familial Isolated Restrictive Cardiomyopathy