MCID: RRC004
MIFTS: 43

Rare Cardiomyopathy

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Rare Cardiomyopathy

MalaCards integrated aliases for Rare Cardiomyopathy:

Name: Rare Cardiomyopathy 59

Classifications:



External Ids:

MESH via Orphanet 45 D009202
UMLS via Orphanet 73 C0878544
Orphanet 59 ORPHA167848

Summaries for Rare Cardiomyopathy

MalaCards based summary : Rare Cardiomyopathy is related to long qt syndrome and cardiac conduction defect. An important gene associated with Rare Cardiomyopathy is ACTC1 (Actin Alpha Cardiac Muscle 1), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Cardiac conduction. The drugs Ramipril and protease inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are cardiovascular system and muscle

Related Diseases for Rare Cardiomyopathy

Diseases in the Rare Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines

Diseases related to Rare Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 29.2 SCN1B RYR2 PKP2 MYBPC3
2 cardiac conduction defect 29.0 RYR2 PLN MYH7 MYBPC3 LMNA DSP
3 left ventricular noncompaction 26.7 TNNT2 TAZ RYR2 PKP2 MYH7 MYBPC3
4 atrial standstill 1 25.3 TNNT2 TNNI3 TAZ SCN1B PRKAG2 PLN
5 hypoparathyroidism, sensorineural deafness, and renal disease 10.9
6 acyl-coa dehydrogenase, very long-chain, deficiency of 10.9
7 naxos disease 10.4 PKP2 DSP
8 glycogen storage disease ii 10.4 PRKAG2 LAMP2 DMD
9 congenital fiber-type disproportion 10.4 MYH7 LMNA DMD
10 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.3 RYR2 MYH7 DSP
11 arrhythmogenic right ventricular dysplasia, familial, 8 10.3 RYR2 PKP2 DSP
12 arrhythmogenic right ventricular dysplasia, familial, 1 10.3 RYR2 DSP
13 endocardial fibroelastosis 10.3 TAZ MYH7 ACTN2
14 campomelic dysplasia 10.3 RBM20 MYBPC3 LMNA
15 catecholaminergic polymorphic ventricular tachycardia 10.2 RYR2 MYBPC3 DSP
16 cardiomyopathy, familial hypertrophic, 6 10.2 TNNI3 PRKAG2
17 central core myopathy 10.2 RYR2 MYH7
18 cardiomyopathy, dilated, 1e 10.2 RBM20 MYH7 LMNA DSP
19 myocarditis 10.1 TNNI3 DSP DMD
20 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 RYR2 PKP2 LMNA DSP
21 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 RYR2 PKP2 LMNA DSP
22 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 RYR2 PKP2 LMNA DSP
23 long qt syndrome 1 10.1 RYR2 PKP2 DSP
24 cardiomyopathy, dilated, 3b 10.1 TAZ DMD
25 muscular dystrophy, congenital merosin-deficient, 1a 10.1 LMNA DMD
26 familial isolated restrictive cardiomyopathy 10.1 TNNT2 TNNI3
27 arrhythmogenic right ventricular dysplasia, familial, 9 10.1 RYR2 PLN PKP2 DSP
28 progressive familial heart block 10.0 TNNT2 SCN1B DSP
29 ventricular fibrillation, paroxysmal familial, 1 10.0 TNNT2 RYR2 DSP
30 fabry disease 10.0 TNNI3 PRKAG2 LAMP2 GLA
31 wolff-parkinson-white syndrome 9.9 TNNI3 PRKAG2 MYH7 LAMP2
32 left ventricular noncompaction 1 9.8
33 progressive familial heart block, type ia 9.6
34 atrioventricular block 9.6
35 left bundle branch hemiblock 9.6
36 glomerulonephritis 9.6
37 mesangial proliferative glomerulonephritis 9.6
38 congestive heart failure 9.6
39 end stage renal failure 9.6
40 broken heart syndrome 9.6
41 syncope 9.6
42 unclassified cardiomyopathy 9.6
43 muscular disease 9.6 TAZ RYR2 MYH7 LMNA LAMP2 DMD
44 acute myocardial infarction 9.6 TNNT2 TNNI3 MYL3
45 cardiomyopathy, familial hypertrophic, 1 9.6 TNNT2 TNNI3 MYH7 MYBPC3 ACTC1
46 cardiac arrest 9.4 TNNT2 RYR2 PLN MYH7 MYBPC3 DSP
47 restrictive cardiomyopathy 9.3 TNNT2 TNNI3 MYL3 MYH7 MYBPC3 ACTC1
48 arrhythmogenic right ventricular cardiomyopathy 8.8 RYR2 RBM20 PRKAG2 PLN PKP2 MYH7
49 familial isolated dilated cardiomyopathy 8.3 TNNT2 TNNI3 TAZ RBM20 PLN MYH7
50 heart disease 8.3 TNNT2 TNNI3 TAZ RYR2 PKP2 MYH7

Graphical network of the top 20 diseases related to Rare Cardiomyopathy:



Diseases related to Rare Cardiomyopathy

Symptoms & Phenotypes for Rare Cardiomyopathy

MGI Mouse Phenotypes related to Rare Cardiomyopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.83 ACTC1 DMD DSP GLA LAMP2 LMNA
2 muscle MP:0005369 9.47 ACTC1 DMD DSP GLA LAMP2 LMNA

Drugs & Therapeutics for Rare Cardiomyopathy

Drugs for Rare Cardiomyopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ramipril Approved Phase 3 87333-19-5 5362129
2
protease inhibitors Phase 3
3 HIV Protease Inhibitors Phase 3
4 Angiotensin-Converting Enzyme Inhibitors Phase 3
5 Antihypertensive Agents Phase 3
6 Annexin A5

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Blockade of the Renin-angiotensin-aldosterone System in Patients With ARVD: a Double-blind Multicentre Prospective Randomized Study. Not yet recruiting NCT03593317 Phase 3 Ramipril;Placebo
2 Myocardial Affectation in Patients With Fabry Disease Without Phenotypic Manifestation. Diagnostic Value of Biomarkers Unknown status NCT01442350
3 Value of Different Myocardial Parameters to Differentiate Left Ventricular Noncompaction Cardiomyopathy From Other Cardiomyopathies and Healthy Controls by Cardiac Magnetic Resonance Completed NCT01481298

Search NIH Clinical Center for Rare Cardiomyopathy

Genetic Tests for Rare Cardiomyopathy

Anatomical Context for Rare Cardiomyopathy

MalaCards organs/tissues related to Rare Cardiomyopathy:

41
Heart

Publications for Rare Cardiomyopathy

Articles related to Rare Cardiomyopathy:

(show top 50) (show all 85)
# Title Authors PMID Year
1
Takotsubo cardiomyopathy secondary to non-accidental trauma presenting as an "unwitnessed" arrest. 38
30714546 2019
2
The coexistence of left ventricular non-compaction cardiomyopathy, significant coronary artery disease and massive thrombus formation in left ventricular cavity: A rare case report. 38
30393872 2019
3
Deletion of Nkx2-5 in trabecular myocardium reveals the developmental origins of pathological heterogeneity associated with ventricular non-compaction cardiomyopathy. 38
29979676 2018
4
A New Diagnosis of Left Ventricular Non-Compaction in a Patient Presenting with Acute Heart Failure. 38
30651913 2018
5
Adipositas Cordis: A Rare and Poorly Understood Cardiomyopathy. 38
29977472 2018
6
Blockade of the renin-angiotensin-aldosterone system in patients with arrhythmogenic right ventricular dysplasia: A double-blind, multicenter, prospective, randomized, genotype-driven study (BRAVE study). 38
29574980 2018
7
A Case of Eosinophilic Myocarditis Associated with Cardiogenic Shock. 38
29228412 2017
8
Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy. 38
29212899 2017
9
Prolonged QTc indicates the clinical severity and poor prognosis in patients with isolated left ventricular non-compaction. 38
28687944 2017
10
Histiocytoid cardiomyopathy and ventricular noncompaction presenting as sudden death in an adult male. 38
28939283 2017
11
Risk for life-threatening arrhythmia in newly diagnosed peripartum cardiomyopathy with low ejection fraction: a German multi-centre analysis. 38
28275862 2017
12
Macrocyclic MEK1/2 inhibitor with efficacy in a mouse model of cardiomyopathy caused by lamin A/C gene mutation. 38
28011205 2017
13
Right atrial deformation analysis in isolated left ventricular noncompaction - insights from the three-dimensional speckle tracking echocardiographic MAGYAR-Path Study. 38
27609553 2016
14
Left Ventricular Non-Compaction in Athletes: To Play or Not to Play. 38
27002622 2016
15
Arrhythmogenic cardiomyopathy. 38
27038780 2016
16
Arrhythmogenic Right Ventricular Cardiomyopathy Caused by a Novel Frameshift Mutation. 38
26920198 2016
17
The pathogenicity of genetic variants previously associated with left ventricular non-compaction. 38
27066506 2016
18
[LEFT VENTRICULAR NON-COMPACTION]. 38
26749956 2015
19
Stroke in a Young Individual with Left Ventricular Noncompaction and Left Atrium Standstill. 38
26413113 2015
20
Relationship between arrhythmogenic right ventricular dysplasia and exercise. 38
26002386 2015
21
Sports in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy and desmosomal mutations. 38
25963172 2015
22
Pharmacotherapy and other therapeutic modalities for managing Arrhythmogenic Right Ventricular Cardiomyopathy. 38
25894016 2015
23
Effects of cardiac resynchronization therapy on left ventricular remodeling and dyssynchrony in patients with left ventricular noncompaction and heart failure. 38
25392055 2015
24
Calcified apical cardiomyopathy: a rare form of endomyocardial fibrosis. 38
23751598 2015
25
Biventricular Noncompaction Cardiomyopathy in an Adult with Unique Facial Dysmorphisms: Case Report and Brief Review. 38
26266056 2015
26
A patient with abnormalities of the coronary arteries and non-compaction of the left ventricular myocardium resulting in ischaemic heart disease symptoms. 38
26620516 2015
27
[Extracorporeal membrane oxygenation support for tako-tsubo syndrome after urgent caesarean section]. 38
23993158 2013
28
Left ventricular non-compaction: prevalence in congenital heart disease. 38
22704867 2013
29
Primary endocardial fibroelastosis: an underappreciated cause of cardiomyopathy in children. 38
23518027 2013
30
Biventricular noncompaction presented with symptomatic complete heart block - Report of a case and review of literature. 38
24027376 2013
31
Left bundle branch block, atrioventricular block, torsade de pointes and long QT syndrome: is this too much for a rare cardiomyopathy? 38
23618687 2013
32
Complete atrioventricular block as the first manifestation of noncompaction of the ventricular myocardium. 38
21410729 2013
33
[Isolated left ventricular non-compaction: a single-center experience]. 38
23337431 2013
34
Isolated left ventricular noncompaction in a newborn with Pierre-Robin sequence. 38
22447382 2013
35
Isolated left ventricular noncompaction: a review of three different presentations for a rare disease. 38
23427367 2013
36
Isolated right ventricular noncompaction in a newborn. 38
22810045 2013
37
Combination of left ventricular noncompaction and partial atrioventricular canal defect in a 21-year-old male: a case report. 38
23362371 2013
38
Cesarean section in a patient with non-compaction cardiomyopathy managed with ECMO. 38
24364010 2013
39
Arrhythmogenic right ventricular cardiomyopathy: severe structural alterations are associated with inflammation. 38
22944624 2012
40
Left ventricular noncompaction in patients with β-thalassemia: uncovering a previously unrecognized abnormality. 38
22965286 2012
41
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a review of molecular and clinical literature. 38
22426942 2012
42
Coexistence of left ventricular noncompaction and double-orifice mitral valve in a patient with congestive heart failure. 38
23692732 2012
43
Distribution of biventricular disease in arrhythmogenic cardiomyopathy: an autopsy study. 38
21937076 2012
44
An unusual cause of cardiac failure. 38
22306783 2012
45
Predictors of appropriate ICD therapy in patients with arrhythmogenic right ventricular cardiomyopathy: long term experience of a tertiary care center. 38
23028419 2012
46
[Rare cause of heart failure in an elderly woman in Djibouti: left ventricular non compaction]. 38
22235629 2011
47
Isolated noncompaction of the left ventricular myocardium in adults: a systematic overview. 38
21872148 2011
48
Left ventricular noncompaction. 38
21119528 2011
49
Long-term outcome of peripartum cardiomyopathy in a population with high seropositivity for human immunodeficiency virus. 38
19751951 2011
50
Ventricular non-compaction in children: clinical characteristics and course. 38
21172941 2011

Variations for Rare Cardiomyopathy

ClinVar genetic disease variations for Rare Cardiomyopathy:

6 (show top 50) (show all 2970)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN1B NM_001037.5(SCN1B): c.308A> T (p.Asp103Val) single nucleotide variant Pathogenic rs1057519457 19:35524503-35524503 19:35033599-35033599
2 PKP2 NM_004572.3(PKP2): c.775G> T (p.Glu259Ter) single nucleotide variant Pathogenic rs1425855043 12:33031039-33031039 12:32878105-32878105
3 DSP NM_004415.4(DSP): c.3474dup (p.Glu1159fs) duplication Pathogenic rs727503000 6:7579897-7579897 6:7579664-7579664
4 MYBPC3 NM_000256.3(MYBPC3): c.1458-1G> C single nucleotide variant Pathogenic rs397515903 11:47364296-47364296 11:47342745-47342745
5 TTN NM_001267550.2(TTN): c.47961del (p.Gly15988fs) deletion Pathogenic rs1553707780 2:179481655-179481655 2:178616928-178616928
6 PKP2 NM_004572.3(PKP2): c.2146-1G> C single nucleotide variant Pathogenic rs193922674 12:32955491-32955491 12:32802557-32802557
7 PRKAG2 NM_016203.4(PRKAG2): c.905G> A (p.Arg302Gln) single nucleotide variant Pathogenic rs121908987 7:151273498-151273498 7:151576412-151576412
8 GLA NM_000169.2(GLA): c.640-801G> A single nucleotide variant Pathogenic rs199473684 X:100654735-100654735 X:101399747-101399747
9 TNNT2 NM_000364.4(TNNT2): c.451C> T (p.Arg151Trp) single nucleotide variant Pathogenic rs74315379 1:201333464-201333464 1:201364336-201364336
10 TNNI3 NM_000363.5(TNNI3): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs104894729 19:55663260-55663260 19:55151892-55151892
11 PLN NM_002667.5(PLN): c.25C> T (p.Arg9Cys) single nucleotide variant Pathogenic rs111033559 6:118880109-118880109 6:118558946-118558946
12 TTR NM_000371.3(TTR): c.148G> A (p.Val50Met) single nucleotide variant Pathogenic rs28933979 18:29172937-29172937 18:31592974-31592974
13 TTR NM_000371.3(TTR): c.424G> A (p.Val142Ile) single nucleotide variant Pathogenic rs76992529 18:29178618-29178618 18:31598655-31598655
14 MYBPC3 NM_000256.3(MYBPC3): c.1895del (p.Met632fs) deletion Pathogenic rs397515934 11:47362691-47362691 11:47341140-47341140
15 MYBPC3 NM_000256.3(MYBPC3): c.2311dup (p.Val771fs) duplication Pathogenic rs397515960 11:47359343-47359343 11:47337792-47337792
16 MYBPC3 NM_000256.3(MYBPC3): c.2534_2538del (p.Arg845fs) deletion Pathogenic rs397515973 11:47359006-47359010 11:47337455-47337459
17 MYBPC3 NM_000256.3(MYBPC3): c.3624del (p.Lys1209fs) deletion Pathogenic rs397516029 11:47354120-47354120 11:47332569-47332569
18 MYBPC3 NM_000256.3(MYBPC3): c.436dup (p.Thr146fs) duplication Pathogenic rs397516049 11:47371634-47371634 11:47350083-47350083
19 MYBPC3 NM_000256.3(MYBPC3): c.551dup (p.Lys185fs) duplication Pathogenic rs397516059 11:47371428-47371428 11:47349877-47349877
20 MYH7 NM_000257.4(MYH7): c.788T> C (p.Ile263Thr) single nucleotide variant Pathogenic rs397516269 14:23900635-23900635 14:23431426-23431426
21 PLN NM_002667.5(PLN): c.37_39AGA[1] (p.Arg14del) short repeat Pathogenic rs397516784 6:118880124-118880126 6:118558961-118558963
22 PKP2 NM_004572.3(PKP2): c.148_151del (p.Thr50fs) deletion Pathogenic rs397516997 12:33049515-33049518 12:32896581-32896584
23 LMNA NM_005572.3(LMNA): c.1296_1299GCAC[4] (p.Ser437fs) short repeat Pathogenic rs267607577 1:156106151-156106154 1:156136360-156136363
24 LMNA NM_005572.3(LMNA): c.184C> G (p.Arg62Gly) single nucleotide variant Pathogenic rs56793579 1:156084893-156084893 1:156115102-156115102
25 TTN NM_001267550.2(TTN): c.95134T> C (p.Cys31712Arg) single nucleotide variant Pathogenic rs869320740 2:179410829-179410829 2:178546102-178546102
26 MYH7 NM_000257.4(MYH7): c.1573G> A (p.Glu525Lys) single nucleotide variant Pathogenic rs606231324 14:23897714-23897714 14:23428505-23428505
27 ACTN2 NM_001103.3(ACTN2): c.355G> A (p.Ala119Thr) single nucleotide variant Pathogenic rs727502886 1:236882307-236882307 1:236719007-236719007
28 MYBPC3 NM_000256.3(MYBPC3): c.3372C> A (p.Cys1124Ter) single nucleotide variant Pathogenic rs727504289 11:47354483-47354483 11:47332932-47332932
29 MYBPC3 NM_000256.3(MYBPC3): c.3288del (p.Glu1096fs) deletion Pathogenic rs727503172 11:47354787-47354787 11:47333236-47333236
30 MYBPC3 NM_000256.3(MYBPC3): c.2776_2777CA[2] (p.Thr927fs) short repeat Pathogenic rs727504265 11:47356717-47356718 11:47335166-47335167
31 MYBPC3 NM_000256.3(MYBPC3): c.999C> G (p.Tyr333Ter) single nucleotide variant Pathogenic rs367947846 11:47367849-47367849 11:47346298-47346298
32 TNNI3 NM_000363.5(TNNI3): c.509G> A (p.Arg170Gln) single nucleotide variant Pathogenic rs727503503 19:55665438-55665438 19:55154070-55154070
33 MYBPC3 NM_000256.3(MYBPC3): c.1038_1042dup (p.Met348fs) duplication Pathogenic rs730880336 11:47367806-47367810 11:47346255-47346259
34 TNNT2 NM_000364.4(TNNT2): c.835dup (p.Gln279fs) duplication Pathogenic rs730881119 1:201328758-201328758 1:201359630-201359630
35 MYBPC3 NM_000256.3: c.3315delG deletion Pathogenic
36 LAMP2 NM_002294.2(LAMP2): c.584_588dup (p.Val197fs) duplication Pathogenic rs730880492 X:119581848-119581849 X:120447993-120447994
37 MYBPC3 NM_000256.3(MYBPC3): c.852-1G> A single nucleotide variant Pathogenic rs368121566 11:47369031-47369031 11:47347480-47347480
38 MYBPC3 NM_000256.3(MYBPC3): c.1156_1171dup (p.Asp391delinsGlyThrGlyTer) duplication Pathogenic rs730880689 11:47365095-47365110 11:47343544-47343559
39 MYBPC3 NM_000256.3(MYBPC3): c.2382del (p.Pro795fs) deletion Pathogenic rs730880714 11:47359272-47359272 11:47337721-47337721
40 MYBPC3 NM_000256.3(MYBPC3): c.2543del (p.Ala848fs) deletion Pathogenic rs730880715 11:47359001-47359001 11:47337450-47337450
41 MYBPC3 NM_000256.3(MYBPC3): c.2604del (p.Ser871fs) deletion Pathogenic rs730880655 11:47357561-47357561 11:47336010-47336010
42 MYBPC3 NM_000256.3(MYBPC3): c.2894_2905+4del deletion Pathogenic rs730880717 11:47356589-47356604 11:47335038-47335053
43 MYBPC3 NM_000256.3(MYBPC3): c.3079delGinsAA (p.Asp1027Lysfs) indel Pathogenic rs730880666 11:47355219-47355219 11:47333668-47333668
44 MYBPC3 NM_000256.3(MYBPC3): c.3182_3190+4del deletion Pathogenic rs730880718 11:47355104-47355116 11:47333553-47333565
45 MYBPC3 NM_000256.3(MYBPC3): c.3300_3301CA[1] (p.Thr1101fs) short repeat Pathogenic rs730880671 11:47354772-47354773 11:47333221-47333222
46 MYBPC3 NM_000256.3(MYBPC3): c.3327del (p.Met1110fs) deletion Pathogenic rs730880719 11:47354748-47354748 11:47333197-47333197
47 MYBPC3 NM_000256.3(MYBPC3): c.3472_3481del (p.Val1158fs) deletion Pathogenic rs730880675 11:47354374-47354383 11:47332823-47332832
48 TTN NM_001267550.2(TTN): c.86387_86391del (p.Arg28796fs) deletion Pathogenic rs794729354 2:179424468-179424472 2:178559741-178559745
49 MIPEP NM_005932.4(MIPEP): c.1804G> T (p.Glu602Ter) single nucleotide variant Pathogenic rs114638163 13:24380133-24380133 13:23805994-23805994
50 C1QTNF9 ; C1QTNF9B ; MIPEP ; PCOTH ; SACS ; SGCG ; SPATA13 ; TNFRSF19 GRCh37/hg19 13q12.12(chr13: 23519916-24941516)x1 copy number loss Pathogenic 13:23519916-24941516 :0-0

Expression for Rare Cardiomyopathy

Search GEO for disease gene expression data for Rare Cardiomyopathy.

Pathways for Rare Cardiomyopathy

Pathways related to Rare Cardiomyopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 TNNT2 TNNI3 SCN1B RYR2 PLN MYL3
2
Show member pathways
12.64 TNNT2 TNNI3 SCN1B RYR2 PLN MYL3
3 12.25 TNNT2 TNNI3 LMNA ACTC1
4
Show member pathways
12.07 RYR2 PKP2 LMNA DSP DMD ACTN2
5 11.79 RYR2 PRKAG2 MYL3
6
Show member pathways
11.63 TNNT2 TNNI3 RYR2 PRKAG2 PLN MYL3
7 11.57 TNNT2 TNNI3 RYR2 MYL3 MYH7 ACTC1
8 11.47 SCN1B RYR2 PLN LMNA DSP
9 11.36 TNNT2 TNNI3 MYL3 MYBPC3 DMD ACTN2
10 11.33 TNNT2 TNNI3 ACTC1

GO Terms for Rare Cardiomyopathy

Cellular components related to Rare Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 filopodium GO:0030175 9.61 DMD ACTN2 ACTC1
2 myofibril GO:0030016 9.56 TNNT2 TNNI3 MYH7 DMD
3 Z disc GO:0030018 9.55 RYR2 MYH7 MYBPC3 DMD ACTN2
4 intercalated disc GO:0014704 9.54 SCN1B PKP2 DSP
5 I band GO:0031674 9.52 MYL3 ACTC1
6 striated muscle thin filament GO:0005865 9.51 TNNT2 MYBPC3
7 myosin filament GO:0032982 9.49 MYH7 MYBPC3
8 muscle myosin complex GO:0005859 9.48 MYL3 MYH7
9 A band GO:0031672 9.46 MYL3 MYBPC3
10 troponin complex GO:0005861 9.4 TNNT2 TNNI3
11 cardiac Troponin complex GO:1990584 9.32 TNNT2 TNNI3
12 sarcomere GO:0030017 9.23 TNNT2 TNNI3 RYR2 MYL3 MYH7 MYBPC3
13 cardiac myofibril GO:0097512 9.13 TNNT2 TNNI3 MYBPC3

Biological processes related to Rare Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.88 TNNI3 TAZ RBM20 PKP2
2 cellular calcium ion homeostasis GO:0006874 9.78 TNNI3 RYR2 PLN
3 muscle contraction GO:0006936 9.73 TNNT2 TNNI3 TAZ MYH7 MYBPC3 ACTN2
4 skeletal muscle tissue development GO:0007519 9.71 TAZ MYL3 DMD
5 positive regulation of ATPase activity GO:0032781 9.7 TNNT2 MYL3 MYBPC3
6 sarcomere organization GO:0045214 9.69 TNNT2 MYBPC3 ACTN2
7 regulation of heart rate by cardiac conduction GO:0086091 9.67 SCN1B PKP2 DSP
8 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.66 PLN DMD
9 muscle cell cellular homeostasis GO:0046716 9.66 LAMP2 DMD
10 cardiac muscle tissue morphogenesis GO:0055008 9.65 MYBPC3 ACTC1
11 regulation of muscle contraction GO:0006937 9.65 TNNT2 TNNI3
12 cardiac myofibril assembly GO:0055003 9.65 MYBPC3 ACTC1
13 regulation of heart rate GO:0002027 9.65 RYR2 MYH7 DMD
14 ventricular cardiac muscle cell action potential GO:0086005 9.64 RYR2 PKP2
15 cardiac muscle tissue development GO:0048738 9.64 TAZ PLN
16 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.63 PLN DMD
17 striated muscle contraction GO:0006941 9.63 TNNI3 MYH7
18 skeletal muscle contraction GO:0003009 9.63 TNNT2 TNNI3 MYH7
19 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.63 TNNT2 TNNI3 PKP2 MYL3 MYH7 MYBPC3
20 response to muscle stretch GO:0035994 9.62 RYR2 DMD
21 positive regulation of sodium ion transport GO:0010765 9.62 SCN1B PKP2
22 cardiac muscle cell action potential involved in contraction GO:0086002 9.61 SCN1B PKP2
23 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.61 RYR2 PLN DMD
24 heart contraction GO:0060047 9.6 TNNI3 ACTC1
25 skeletal muscle thin filament assembly GO:0030240 9.59 MYBPC3 ACTC1
26 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.58 RYR2 PKP2
27 regulation of the force of heart contraction GO:0002026 9.58 PLN MYL3 MYH7
28 regulation of striated muscle contraction GO:0006942 9.57 MYL3 MYBPC3
29 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.56 TNNI3 RYR2
30 muscle filament sliding GO:0030049 9.56 TNNT2 TNNI3 MYL3 MYH7 MYBPC3 DMD
31 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.55 PKP2 DSP
32 negative regulation of ATPase activity GO:0032780 9.54 TNNT2 TNNI3 PLN
33 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.5 RYR2 PKP2 DSP
34 cardiac muscle contraction GO:0060048 9.32 TNNT2 TNNI3 TAZ SCN1B RYR2 MYL3

Molecular functions related to Rare Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.71 TNNI3 MYH7 MYBPC3 ACTN2
2 ion channel binding GO:0044325 9.62 SCN1B RYR2 PKP2 ACTN2
3 titin binding GO:0031432 9.43 MYBPC3 ACTN2
4 actin binding GO:0003779 9.43 TNNT2 TNNI3 MYH7 MYBPC3 DMD ACTN2
5 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.37 PKP2 DSP
6 myosin binding GO:0017022 9.33 MYBPC3 DMD ACTC1
7 troponin C binding GO:0030172 9.26 TNNT2 TNNI3
8 structural constituent of muscle GO:0008307 8.92 MYL3 MYBPC3 DMD ACTN2

Sources for Rare Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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