MCID: FML293
MIFTS: 42

Familial Isolated Restrictive Cardiomyopathy

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

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:



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

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:



Diseases related to Familial Isolated Restrictive Cardiomyopathy

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

Drugs & Therapeutics for Familial Isolated Restrictive Cardiomyopathy

Search Clinical Trials , NIH Clinical Center 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:

40
Heart

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
31514951 2019
2
Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures. 6
30067491 2018
3
Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy. 6
28436997 2017
4
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. 6
28790153 2017
5
Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy. 6
29367541 2017
6
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 6
27532257 2017
7
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. 6
28017374 2017
8
Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage. 6
29121657 2017
9
Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C. 6
27601210 2016
10
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 6
27908349 2016
11
FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy. 6
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
27036851 2016
13
FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency. 6
26969713 2016
14
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 6
26899768 2016
15
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 6
26914223 2016
16
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene. 6
26507537 2016
17
Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy. 6
26656454 2015
18
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 6
26436962 2015
19
Myofibrillar instability exacerbated by acute exercise in filaminopathy. 6
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
26498512 2015
21
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. 6
24691700 2015
22
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy. 6
25179549 2014
23
Prioritizing causal disease genes using unbiased genomic features. 6
25633252 2014
24
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 6
25524337 2014
25
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. 6
25351925 2014
26
Genetics of hypertrophic cardiomyopathy in Norway. 6
24111713 2014
27
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 6
25031304 2014
28
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 6
24503780 2014
29
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 6
24793961 2014
30
Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy. 6
24480310 2014
31
Hypertrophic cardiomyopathy: one gene … but many phenotypes. 6
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
24992688 2014
33
Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 6
24119082 2013
34
Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy. 6
23494605 2013
35
A systematic approach to assessing the clinical significance of genetic variants. 6
24033266 2013
36
Cardiac muscle activation blunted by a mutation to the regulatory component, troponin T. 6
23897817 2013
37
Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy. 6
23711808 2013
38
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. 6
23539503 2013
39
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 6
23283745 2013
40
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 6
23349452 2013
41
Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210. 6
23663841 2013
42
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 6
23396983 2013
43
Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy. 6
22892539 2013
44
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 6
23233322 2013
45
Usefulness of running wheel for detection of congestive heart failure in dilated cardiomyopathy mouse model. 6
23383212 2013
46
Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. 6
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
24367593 2013
48
Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. 6
22857948 2012
49
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. 6
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
22876777 2012

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

Expression for Familial Isolated Restrictive Cardiomyopathy

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

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
Show member pathways
12.05 TNNT2 TNNI3 MYL2
2 11.99 TNNT2 TNNI3 FLNC
3
Show member pathways
11.7 TNNT2 TNNI3 MYL2
4 11.27 TNNT2 TNNI3 MYL2
5 10.99 TNNT2 TNNI3 MYL2
6 10.52 TNNT2 TNNI3 MYL2

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 for Familial Isolated Restrictive 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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