MCID: RRC004
MIFTS: 44

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 58

Classifications:



External Ids:

MESH via Orphanet 44 D009202
UMLS via Orphanet 72 C0878544
Orphanet 58 ORPHA167848

Summaries for Rare Cardiomyopathy

MalaCards based summary : Rare Cardiomyopathy is related to atrioventricular block 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 Cardiac conduction and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. The drugs Ramipril and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include heart and kidney, and related phenotypes are cardiovascular system and homeostasis/metabolism

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
Lmna-Related 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 95)
# Related Disease Score Top Affiliating Genes
1 atrioventricular block 29.3 TNNI3 RYR2 MYH7 LMNA
2 cardiac conduction defect 29.1 RYR2 PLN MYH7 MYBPC3 LMNA DSP
3 left bundle branch hemiblock 29.0 TNNI3 RYR2 PKP2 LMNA DSP DSG2
4 congestive heart failure 28.8 TNNI3 RYR2 PLN MYH7 MYBPC3 LMNA
5 long qt syndrome 28.1 SCN1B RYR2 RBM20 PKP2 MYH7 MYBPC3
6 left ventricular noncompaction 26.1 TNNI3 TAZ RYR2 RBM20 PRKAG2 PKP2
7 atrial standstill 1 25.7 TNNI3 TAZ SCN1B RYR2 RBM20 PRKAG2
8 hypoparathyroidism, sensorineural deafness, and renal disease 10.9
9 acyl-coa dehydrogenase, very long-chain, deficiency of 10.9
10 autosomal dominant distal myopathy 10.4 MYH7 DMD
11 keratosis 10.3 LMNA DSP DSG2
12 first-degree atrioventricular block 10.3 MYH7 LMNA
13 cardiomyopathy, familial hypertrophic, 4 10.3 MYH7 MYBPC3 DMD
14 ebstein anomaly 10.3 MYH7 MYBPC3 ACTC1
15 mitochondrial dna depletion syndrome 12b 10.3 RBM20 PRKAG2
16 palmoplantar keratosis 10.3 PKP2 DSP DSG2
17 glycogen storage disease ii 10.3 PRKAG2 LAMP2 DMD
18 rigid spine muscular dystrophy 1 10.3 MYH7 LMNA DMD
19 bethlem myopathy 1 10.3 MYH7 LMNA DMD
20 familial isolated restrictive cardiomyopathy 10.3 TNNI3 MYL2
21 muscular disease 10.3 MYH7 LMNA DMD
22 arrhythmogenic right ventricular dysplasia, familial, 1 10.3 RYR2 PKP2 DSG2
23 isolated elevated serum creatine phosphokinase levels 10.3 RYR2 LMNA DMD
24 sphingolipidosis 10.3 PRKAG2 LAMP2 GLA
25 myofibrillar myopathy 10.3 MYH7 LMNA DMD
26 arrhythmogenic right ventricular dysplasia, familial, 11 10.2 RYR2 PKP2 DSG2
27 skin hemangioma 10.2 PRKAG2 GLA
28 arrhythmogenic right ventricular dysplasia, familial, 12 10.2 RYR2 PKP2 DSG2
29 anomalous left coronary artery from the pulmonary artery 10.2 TAZ PKP2
30 arrhythmogenic right ventricular dysplasia, familial, 13 10.2 RYR2 PKP2 DSP
31 cardiomyopathy, dilated, 1dd 10.2 RYR2 RBM20
32 muscle tissue disease 10.2 MYH7 LMNA DMD
33 barth syndrome 10.2 TAZ MYH7 MYBPC3
34 arrhythmogenic right ventricular dysplasia, familial, 4 10.1 RYR2 PKP2 DSP DSG2
35 arrhythmogenic right ventricular dysplasia, familial, 3 10.1 RYR2 PKP2 DSP DSG2
36 arrhythmogenic right ventricular dysplasia, familial, 6 10.1 RYR2 PKP2 DSP DSG2
37 arrhythmogenic right ventricular dysplasia, familial, 10 10.1 RYR2 PKP2 DSP DSG2
38 arrhythmogenic right ventricular dysplasia, familial, 8 10.1 RYR2 PKP2 DSP DSG2
39 arrhythmogenic right ventricular dysplasia, familial, 5 10.1 RYR2 PKP2 DSP DSG2
40 arrhythmogenic right ventricular dysplasia, familial, 2 10.1 RYR2 PKP2 DSP DSG2
41 danon disease 10.1 PRKAG2 MYH7 MYBPC3 LAMP2
42 cardiomyopathy, dilated, with woolly hair and keratoderma 10.1 RYR2 PKP2 DSP DSG2
43 cardiomyopathy, dilated, 1e 10.1 RBM20 MYH7 LMNA DSP
44 palmoplantar keratoderma, nonepidermolytic 10.1 RYR2 PKP2 DSP DSG2
45 naxos disease 10.1 RYR2 PKP2 DSP DSG2
46 cardiomyopathy, dilated, 1b 10.1 RBM20 MYH7 MYBPC3 LMNA
47 familial woolly hair syndrome 10.1 RYR2 PKP2 DSP DSG2
48 malignant hyperthermia 10.1 RYR2 MYH7 DMD
49 ventricular fibrillation, paroxysmal familial, 1 10.1 RYR2 DSP
50 primary cutaneous amyloidosis 10.1 TNNI3 MYL3 MYL2

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.16 ACTC1 DMD DSG2 DSP GLA LAMP2
2 homeostasis/metabolism MP:0005376 9.97 ACTC1 DMD GLA LAMP2 LMNA MIPEP
3 mortality/aging MP:0010768 9.8 ACTC1 DMD DSG2 DSP GLA LAMP2
4 muscle MP:0005369 9.5 ACTC1 DMD DSG2 DSP GLA LAMP2

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 Antihypertensive Agents Phase 3
3 Angiotensin-Converting Enzyme Inhibitors Phase 3
4
protease inhibitors Phase 3
5 HIV Protease Inhibitors 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
4 GENETIC BASIS of LEFT VENTRICULAR APICAL HYPOPLASIA Recruiting NCT04339582

Search NIH Clinical Center for Rare Cardiomyopathy

Genetic Tests for Rare Cardiomyopathy

Anatomical Context for Rare Cardiomyopathy

MalaCards organs/tissues related to Rare Cardiomyopathy:

40
Heart, Kidney

Publications for Rare Cardiomyopathy

Articles related to Rare Cardiomyopathy:

(show top 50) (show all 89)
# Title Authors PMID Year
1
Recurrent Takotsubo Cardiomyopathy: Getting to the Root of the Problem. 61
32507847 2020
2
The effect of noncompacted myocardial resection on isolated left ventricular noncompaction. 61
32360189 2020
3
Adipositas Cordis in Two Cats with Sudden Death. 61
32359629 2020
4
Non-compaction of ventricular myocardium with polycystic kidney disease with cardiogenic cerebral embolism. 61
31974261 2020
5
Takotsubo cardiomyopathy secondary to non-accidental trauma presenting as an "unwitnessed" arrest. 61
30714546 2019
6
The coexistence of left ventricular non-compaction cardiomyopathy, significant coronary artery disease and massive thrombus formation in left ventricular cavity: A rare case report. 61
30393872 2019
7
Deletion of Nkx2-5 in trabecular myocardium reveals the developmental origins of pathological heterogeneity associated with ventricular non-compaction cardiomyopathy. 61
29979676 2018
8
A New Diagnosis of Left Ventricular Non-Compaction in a Patient Presenting with Acute Heart Failure. 61
30651913 2018
9
Adipositas Cordis: A Rare and Poorly Understood Cardiomyopathy. 61
29977472 2018
10
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). 61
29574980 2018
11
A Case of Eosinophilic Myocarditis Associated with Cardiogenic Shock. 61
29228412 2017
12
Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy. 61
29212899 2017
13
Prolonged QTc indicates the clinical severity and poor prognosis in patients with isolated left ventricular non-compaction. 61
28687944 2017
14
Histiocytoid cardiomyopathy and ventricular noncompaction presenting as sudden death in an adult male. 61
28939283 2017
15
Risk for life-threatening arrhythmia in newly diagnosed peripartum cardiomyopathy with low ejection fraction: a German multi-centre analysis. 61
28275862 2017
16
Macrocyclic MEK1/2 inhibitor with efficacy in a mouse model of cardiomyopathy caused by lamin A/C gene mutation. 61
28011205 2017
17
Right atrial deformation analysis in isolated left ventricular noncompaction - insights from the three-dimensional speckle tracking echocardiographic MAGYAR-Path Study. 61
27609553 2016
18
Left Ventricular Non-Compaction in Athletes: To Play or Not to Play. 61
27002622 2016
19
Arrhythmogenic cardiomyopathy. 61
27038780 2016
20
Arrhythmogenic Right Ventricular Cardiomyopathy Caused by a Novel Frameshift Mutation. 61
26920198 2016
21
The pathogenicity of genetic variants previously associated with left ventricular non-compaction. 61
27066506 2016
22
[LEFT VENTRICULAR NON-COMPACTION]. 61
26749956 2015
23
Stroke in a Young Individual with Left Ventricular Noncompaction and Left Atrium Standstill. 61
26413113 2015
24
Relationship between arrhythmogenic right ventricular dysplasia and exercise. 61
26002386 2015
25
Sports in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy and desmosomal mutations. 61
25963172 2015
26
Pharmacotherapy and other therapeutic modalities for managing Arrhythmogenic Right Ventricular Cardiomyopathy. 61
25894016 2015
27
Effects of cardiac resynchronization therapy on left ventricular remodeling and dyssynchrony in patients with left ventricular noncompaction and heart failure. 61
25392055 2015
28
Biventricular Noncompaction Cardiomyopathy in an Adult with Unique Facial Dysmorphisms: Case Report and Brief Review. 61
26266056 2015
29
Calcified apical cardiomyopathy: a rare form of endomyocardial fibrosis. 61
23751598 2015
30
A patient with abnormalities of the coronary arteries and non-compaction of the left ventricular myocardium resulting in ischaemic heart disease symptoms. 61
26620516 2015
31
[Extracorporeal membrane oxygenation support for tako-tsubo syndrome after urgent caesarean section]. 61
23993158 2013
32
Primary endocardial fibroelastosis: an underappreciated cause of cardiomyopathy in children. 61
23518027 2013
33
Left ventricular non-compaction: prevalence in congenital heart disease. 61
22704867 2013
34
Biventricular noncompaction presented with symptomatic complete heart block - Report of a case and review of literature. 61
24027376 2013
35
Left bundle branch block, atrioventricular block, torsade de pointes and long QT syndrome: is this too much for a rare cardiomyopathy? 61
23618687 2013
36
Complete atrioventricular block as the first manifestation of noncompaction of the ventricular myocardium. 61
21410729 2013
37
[Isolated left ventricular non-compaction: a single-center experience]. 61
23337431 2013
38
Isolated left ventricular noncompaction in a newborn with Pierre-Robin sequence. 61
22447382 2013
39
Combination of left ventricular noncompaction and partial atrioventricular canal defect in a 21-year-old male: a case report. 61
23362371 2013
40
Isolated right ventricular noncompaction in a newborn. 61
22810045 2013
41
Isolated left ventricular noncompaction: a review of three different presentations for a rare disease. 61
23427367 2013
42
Cesarean section in a patient with non-compaction cardiomyopathy managed with ECMO. 61
24364010 2013
43
Arrhythmogenic right ventricular cardiomyopathy: severe structural alterations are associated with inflammation. 61
22944624 2012
44
Left ventricular noncompaction in patients with β-thalassemia: uncovering a previously unrecognized abnormality. 61
22965286 2012
45
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a review of molecular and clinical literature. 61
22426942 2012
46
Coexistence of left ventricular noncompaction and double-orifice mitral valve in a patient with congestive heart failure. 61
23692732 2012
47
Distribution of biventricular disease in arrhythmogenic cardiomyopathy: an autopsy study. 61
21937076 2012
48
An unusual cause of cardiac failure. 61
22306783 2012
49
Predictors of appropriate ICD therapy in patients with arrhythmogenic right ventricular cardiomyopathy: long term experience of a tertiary care center. 61
23028419 2012
50
[Rare cause of heart failure in an elderly woman in Djibouti: left ventricular non compaction]. 61
22235629 2011

Variations for Rare Cardiomyopathy

ClinVar genetic disease variations for Rare Cardiomyopathy:

6 (show top 50) (show all 4123) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNE1 NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)SNV Conflicting interpretations of pathogenicity, other, risk factor 13479 rs1805128 21:35821680-35821680 21:34449382-34449382
2 LMNA NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)SNV Pathogenic 48074 rs60682848 1:156104629-156104629 1:156134838-156134838
3 LMNA NM_170707.4(LMNA):c.1296_1299GCAC[4] (p.Ser437fs)short repeat Pathogenic 66803 rs267607577 1:156106142-156106143 1:156136351-156136352
4 LMNA NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)SNV Pathogenic 66868 rs56793579 1:156084893-156084893 1:156115102-156115102
5 TTN NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)SNV Pathogenic 132133 rs869320740 2:179410829-179410829 2:178546102-178546102
6 TTN NM_001267550.2(TTN):c.49648+2deldeletion Pathogenic 179411 rs727504851 2:179477886-179477886 2:178613159-178613159
7 MYBPC3 NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter)SNV Pathogenic 177701 rs727504289 11:47354483-47354483 11:47332932-47332932
8 MYBPC3 NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)deletion Pathogenic 164042 rs727503172 11:47354787-47354787 11:47333236-47333236
9 MYBPC3 NM_000256.3(MYBPC3):c.2776_2777CA[2] (p.Thr927fs)short repeat Pathogenic 177660 rs727504265 11:47356717-47356718 11:47335166-47335167
10 MYBPC3 NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter)SNV Pathogenic 177706 rs367947846 11:47367849-47367849 11:47346298-47346298
11 MYBPC3 NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs)duplication Pathogenic 177698 rs730880336 11:47367806-47367810 11:47346254-47346255
12 TNNT2 NM_001276345.2(TNNT2):c.844dup (p.Gln282fs)duplication Pathogenic 181639 rs730881119 1:201328757-201328758 1:201359629-201359630
13 MYBPC3 NM_000256.3(MYBPC3):c.3472_3481del (p.Val1158fs)deletion Pathogenic 181103 rs730880675 11:47354374-47354383 11:47332823-47332832
14 MYBPC3 NM_000256.3(MYBPC3):c.3327del (p.Met1110fs)deletion Pathogenic 181155 rs730880719 11:47354748-47354748 11:47333197-47333197
15 MYBPC3 NM_000256.3(MYBPC3):c.3300_3301CA[1] (p.Thr1101fs)short repeat Pathogenic 181098 rs730880671 11:47354772-47354773 11:47333221-47333222
16 MYBPC3 NM_000256.3(MYBPC3):c.3079G>AAindel Pathogenic 181093 rs730880666 11:47355219-47355219 11:47333668-47333668
17 MYBPC3 NM_000256.3(MYBPC3):c.2894_2905+4deldeletion Pathogenic 181153 rs730880717 11:47356589-47356604 11:47335038-47335053
18 MYBPC3 NM_000256.3(MYBPC3):c.2604del (p.Ser871fs)deletion Pathogenic 181082 rs730880655 11:47357561-47357561 11:47336010-47336010
19 MYBPC3 NM_000256.3(MYBPC3):c.2382del (p.Pro795fs)deletion Pathogenic 181150 rs730880714 11:47359272-47359272 11:47337721-47337721
20 MYBPC3 NM_000256.3(MYBPC3):c.2543del (p.Ala848fs)deletion Pathogenic 181151 rs730880715 11:47359001-47359001 11:47337450-47337450
21 MYBPC3 NM_000256.3(MYBPC3):c.1156_1171dup (p.Asp391delinsGlyThrGlyTer)duplication Pathogenic 181117 rs730880689 11:47365094-47365095 11:47343543-47343544
22 MYBPC3 NM_000256.3(MYBPC3):c.852-1G>ASNV Pathogenic 181053 rs368121566 11:47369031-47369031 11:47347480-47347480
23 LAMP2 NM_013995.2(LAMP2):c.584_588dup (p.Val197fs)duplication Pathogenic 180887 rs730880492 X:119581848-119581849 X:120447993-120447994
24 MYBPC3 NM_000256.3:c.3315delGdeletion Pathogenic 181099 rs1565623093
25 PKP2 NM_004572.3(PKP2):c.1171-2A>GSNV Pathogenic 202030 rs794729133 12:33003909-33003909 12:32850975-32850975
26 TTN NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs)deletion Pathogenic 202482 rs794729354 2:179424468-179424472 2:178559741-178559745
27 TTN NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)SNV Pathogenic 202377 rs751502842 2:179477169-179477169 2:178612442-178612442
28 MIPEP NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter)SNV Pathogenic 208631 rs114638163 13:24380133-24380133 13:23805994-23805994
29 C1QTNF9 , C1QTNF9B , MIPEP , PCOTH , SACS , SGCG , SPATA13 , TNFRSF19 GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1copy number loss Pathogenic 208634 13:23519916-24941516
30 MYBPC3 NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs)deletion Pathogenic 42635 rs397515973 11:47359006-47359010 11:47337455-47337459
31 MYBPC3 NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)SNV Pathogenic 42669 rs397515992 11:47356593-47356593 11:47335042-47335042
32 MYBPC3 NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)SNV Pathogenic 42690 rs397516005 11:47355117-47355117 11:47333566-47333566
33 MYBPC3 NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs)deletion Pathogenic 42727 rs397516029 11:47354120-47354120 11:47332569-47332569
34 MYBPC3 NM_000256.3(MYBPC3):c.436dup (p.Thr146fs)duplication Pathogenic 42751 rs397516049 11:47371633-47371634 11:47350082-47350083
35 MYBPC3 NM_000256.3(MYBPC3):c.551dup (p.Lys185fs)duplication Pathogenic 42771 rs397516059 11:47371427-47371428 11:47349876-47349877
36 MYBPC3 NM_000256.3(MYBPC3):c.927-9G>ASNV Pathogenic 42807 rs397516083 11:47367930-47367930 11:47346379-47346379
37 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His)SNV Pathogenic 42875 rs371898076 14:23896042-23896042 14:23426833-23426833
38 MYH7 NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)SNV Pathogenic 42922 rs397516161 14:23893357-23893357 14:23424148-23424148
39 MYH7 NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)SNV Pathogenic 43106 rs397516269 14:23900635-23900635 14:23431426-23431426
40 TNNI3 NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)SNV Pathogenic 43388 rs397516353 19:55665477-55665477 19:55154109-55154109
41 PLN NM_002667.5(PLN):c.37_39AGA[1] (p.Arg14del)short repeat Pathogenic 44580 rs397516784 6:118880120-118880122 6:118558957-118558959
42 PKP2 NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)SNV Pathogenic 45016 rs372827156 12:33003841-33003841 12:32850907-32850907
43 PKP2 NM_001005242.2(PKP2):c.148_151del (p.Thr50fs)deletion Pathogenic 45028 rs397516997 12:33049515-33049518 12:32896581-32896584
44 PKP2 NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)indel Pathogenic 45063 rs397517021 12:32955434-32955439 12:32802500-32802505
45 PLN NM_002667.5(PLN):c.25C>T (p.Arg9Cys)SNV Pathogenic 13636 rs111033559 6:118880109-118880109 6:118558946-118558946
46 TTR NM_000371.4(TTR):c.148G>A (p.Val50Met)SNV Pathogenic 13417 rs28933979 18:29172937-29172937 18:31592974-31592974
47 TTR NM_000371.4(TTR):c.238A>G (p.Thr80Ala)SNV Pathogenic 13421 rs121918070 18:29175120-29175120 18:31595157-31595157
48 TNNI3 NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)SNV Pathogenic 12426 rs104894724 19:55665514-55665514 19:55154146-55154146
49 TPM1 NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)SNV Pathogenic 12456 rs104894503 15:63353098-63353098 15:63060899-63060899
50 MYH7 NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)SNV Pathogenic 14089 rs121913625 14:23898214-23898214 14:23429005-23429005

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:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 TNNI3 SCN1B RYR2 PLN MYL3 MYL2
2
Show member pathways
12.35 MYL3 MYL2 MYH7 ACTC1
3
Show member pathways
12.3 RYR2 PLN MYL2 ACTC1
4
Show member pathways
12.26 TNNI3 SCN1B RYR2 PLN MYL3 MYL2
5
Show member pathways
12.03 RYR2 PKP2 LMNA DSP DSG2 DMD
6 11.87 RYR2 PRKAG2 MYL3 MYL2
7 11.67 TNNI3 RYR2 MYL3 MYL2 MYH7 ACTC1
8
Show member pathways
11.63 TNNI3 RYR2 PRKAG2 PLN MYL3 MYL2
9 11.47 SCN1B RYR2 PLN LMNA DSP
10 11.36 TNNI3 MYL2 ACTC1
11 11.32 MYL3 MYL2 MYH7 ACTC1
12 11.29 TNNI3 MYL3 MYL2 MYBPC3 DMD ACTC1
13 10.87 MYL2 MYH7

GO Terms for Rare Cardiomyopathy

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

# Name GO ID Score Top Affiliating Genes
1 myosin complex GO:0016459 9.61 MYL3 MYL2 MYH7
2 cornified envelope GO:0001533 9.58 PKP2 DSP DSG2
3 intercalated disc GO:0014704 9.56 SCN1B PKP2 DSP DSG2
4 desmosome GO:0030057 9.54 PKP2 DSP DSG2
5 A band GO:0031672 9.5 MYL3 MYL2 MYBPC3
6 myosin filament GO:0032982 9.48 MYH7 MYBPC3
7 muscle myosin complex GO:0005859 9.46 MYL3 MYH7
8 myofibril GO:0030016 9.46 TNNI3 MYL2 MYH7 DMD
9 sarcomere GO:0030017 9.17 TNNI3 RYR2 MYL3 MYL2 MYH7 MYBPC3
10 cardiac myofibril GO:0097512 9.13 TNNI3 MYL2 MYBPC3

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.91 TNNI3 TAZ RBM20 PKP2 MYL2
2 cornification GO:0070268 9.8 PKP2 DSP DSG2
3 muscle contraction GO:0006936 9.8 TNNI3 TAZ MYH7
4 cellular calcium ion homeostasis GO:0006874 9.79 TNNI3 RYR2 PLN
5 regulation of heart rate by cardiac conduction GO:0086091 9.73 SCN1B PKP2 DSP DSG2
6 skeletal muscle tissue development GO:0007519 9.72 TAZ MYL3 DMD
7 regulation of heart rate GO:0002027 9.7 RYR2 MYH7 DMD
8 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.67 RYR2 PLN DMD
9 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.65 PLN DMD
10 heart contraction GO:0060047 9.65 TNNI3 MYL2 ACTC1
11 striated muscle contraction GO:0006941 9.64 TNNI3 MYH7
12 ventricular cardiac muscle cell action potential GO:0086005 9.64 RYR2 PKP2
13 muscle fiber development GO:0048747 9.63 MYL2 DMD
14 regulation of striated muscle contraction GO:0006942 9.63 MYL3 MYL2 MYBPC3
15 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.63 TNNI3 PKP2 MYL3 MYL2 MYH7 MYBPC3
16 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.62 PLN DMD
17 regulation of the force of heart contraction GO:0002026 9.62 PLN MYL3 MYL2 MYH7
18 cardiac muscle cell action potential involved in contraction GO:0086002 9.61 SCN1B PKP2
19 response to muscle stretch GO:0035994 9.6 RYR2 DMD
20 positive regulation of sodium ion transport GO:0010765 9.59 SCN1B PKP2
21 cardiac myofibril assembly GO:0055003 9.58 MYL2 ACTC1
22 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.58 RYR2 PKP2
23 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.58 PKP2 DSP DSG2
24 negative regulation of ATPase activity GO:0032780 9.57 TNNI3 PLN
25 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.56 TNNI3 RYR2
26 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.56 RYR2 PKP2 DSP DSG2
27 positive regulation of the force of heart contraction GO:0098735 9.54 RYR2 MYL2
28 desmosome organization GO:0002934 9.54 PKP2 DSP DSG2
29 muscle filament sliding GO:0030049 9.5 TNNI3 MYL3 MYL2 MYH7 MYBPC3 DMD
30 cardiac muscle contraction GO:0060048 9.32 TNNI3 TAZ SCN1B RYR2 MYL3 MYL2

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

# Name GO ID Score Top Affiliating Genes
1 myosin binding GO:0017022 9.33 MYBPC3 DMD ACTC1
2 myosin heavy chain binding GO:0032036 9.26 MYL2 MYBPC3
3 structural constituent of muscle GO:0008307 9.26 MYL3 MYL2 MYBPC3 DMD
4 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.8 PKP2 DSP DSG2

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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