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 progressive familial heart block, type ia and atrioventricular block. An important gene associated with Rare Cardiomyopathy is ACTC1 (Actin Alpha Cardiac Muscle 1), and among its related pathways/superpathways are Cardiac conduction and cGMP-PKG signaling pathway. The drugs Ramipril and protease inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and bone, 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 96)
# Related Disease Score Top Affiliating Genes
1 progressive familial heart block, type ia 29.9 MYH7 MYBPC3
2 atrioventricular block 28.9 TNNI3 RYR2 PRKAG2 MYH7 LMNA
3 cardiac conduction defect 28.6 SCN1B RYR2 PLN MYH7 MYBPC3 LMNA
4 congestive heart failure 28.6 TNNT2 TNNI3 RYR2 PLN MYH7
5 left bundle branch hemiblock 28.0 TNNT2 TNNI3 RYR2 PKP2 MYBPC3 LMNA
6 long qt syndrome 27.9 SCN1B RYR2 RBM20 PKP2 MYH7 MYBPC3
7 left ventricular noncompaction 25.4 TNNT2 TNNI3 TAZ RYR2 RBM20 PRKAG2
8 atrial standstill 1 24.9 TNNT2 TNNI3 TAZ SCN1B RYR2 RBM20
9 hypoparathyroidism, sensorineural deafness, and renal disease 10.9
10 acyl-coa dehydrogenase, very long-chain, deficiency of 10.9
11 autosomal dominant distal myopathy 10.4 MYH7 DMD
12 naxos disease 10.4 PKP2 DSP
13 first-degree atrioventricular block 10.3 MYH7 LMNA
14 mitochondrial dna depletion syndrome 12b 10.3 RBM20 PRKAG2
15 glycogen storage disease ii 10.3 PRKAG2 LAMP2 DMD
16 bethlem myopathy 1 10.3 MYH7 LMNA DMD
17 palmoplantar keratosis 10.3 PKP2 DSP DSG2
18 rigid spine muscular dystrophy 1 10.3 MYH7 LMNA DMD
19 arrhythmogenic right ventricular dysplasia, familial, 11 10.2 RYR2 PKP2 DSG2
20 myofibrillar myopathy 10.2 MYH7 LMNA DMD
21 arrhythmogenic right ventricular dysplasia, familial, 12 10.2 RYR2 PKP2 DSG2
22 arrhythmogenic right ventricular dysplasia, familial, 13 10.2 RYR2 PKP2 DSP
23 emery-dreifuss muscular dystrophy 7, autosomal dominant 10.2 LMNA DMD
24 cardiomyopathy, dilated, 1dd 10.2 RYR2 RBM20
25 muscle tissue disease 10.2 MYH7 LMNA DMD
26 congenital fiber-type disproportion 10.1 MYL3 MYH7 LMNA DMD
27 danon disease 10.1 PRKAG2 MYBPC3 LAMP2 GLA
28 autosomal recessive limb-girdle muscular dystrophy type 2a 10.1 LMNA DMD
29 ebstein anomaly 10.1 PRKAG2 MYH7 MYBPC3 ACTC1
30 arrhythmogenic right ventricular dysplasia, familial, 3 10.1 RYR2 PKP2 DSP DSG2
31 arrhythmogenic right ventricular dysplasia, familial, 6 10.1 RYR2 PKP2 DSP DSG2
32 barth syndrome 10.1 TAZ MYH7 MYBPC3
33 arrhythmogenic right ventricular dysplasia, familial, 4 10.1 RYR2 PKP2 DSP DSG2
34 arrhythmogenic right ventricular dysplasia, familial, 1 10.1 RYR2 PKP2 DSP DSG2
35 myocarditis 10.1 TNNI3 DSP DMD
36 arrhythmogenic right ventricular dysplasia, familial, 10 10.1 RYR2 PKP2 DSP DSG2
37 arrhythmogenic right ventricular dysplasia, familial, 8 10.1 RYR2 PKP2 DSP DSG2
38 arrhythmogenic right ventricular dysplasia, familial, 5 10.1 RYR2 PKP2 DSP DSG2
39 cardiomyopathy, dilated, with woolly hair and keratoderma 10.1 RYR2 PKP2 DSP DSG2
40 arrhythmogenic right ventricular dysplasia, familial, 2 10.1 RYR2 PKP2 DSP DSG2
41 cardiomyopathy, dilated, 1e 10.1 RBM20 MYH7 LMNA DSP
42 dextrocardia 10.1 TNNT2 MYH7 ACTC1
43 cardiomyopathy, dilated, 1b 10.1 RBM20 MYH7 MYBPC3 LMNA
44 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.0 RYR2 PKP2 MYH7 DSP
45 malignant hyperthermia 10.0 RYR2 MYH7 DMD
46 second-degree atrioventricular block 10.0 TNNI3 TAZ
47 familial isolated restrictive cardiomyopathy 10.0 TNNT2 TNNI3
48 ventricular fibrillation, paroxysmal familial, 1 10.0 TNNT2 RYR2 DSP
49 rheumatic myocarditis 10.0 TNNT2 TNNI3
50 silent myocardial infarction 10.0 TNNT2 TNNI3

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 9.93 ACTC1 DMD GLA LAMP2 LMNA MYBPC3
3 mortality/aging MP:0010768 9.77 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
protease inhibitors Phase 3
3 Antihypertensive Agents Phase 3
4 HIV Protease Inhibitors Phase 3
5 Angiotensin-Converting Enzyme 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

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, Bone

Publications for Rare Cardiomyopathy

Articles related to Rare Cardiomyopathy:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Non-compaction of ventricular myocardium with polycystic kidney disease with cardiogenic cerebral embolism. 61
31974261 2020
2
Takotsubo cardiomyopathy secondary to non-accidental trauma presenting as an "unwitnessed" arrest. 61
30714546 2019
3
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
4
Deletion of Nkx2-5 in trabecular myocardium reveals the developmental origins of pathological heterogeneity associated with ventricular non-compaction cardiomyopathy. 61
29979676 2018
5
A New Diagnosis of Left Ventricular Non-Compaction in a Patient Presenting with Acute Heart Failure. 61
30651913 2018
6
Adipositas Cordis: A Rare and Poorly Understood Cardiomyopathy. 61
29977472 2018
7
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
8
A Case of Eosinophilic Myocarditis Associated with Cardiogenic Shock. 61
29228412 2017
9
Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy. 61
29212899 2017
10
Prolonged QTc indicates the clinical severity and poor prognosis in patients with isolated left ventricular non-compaction. 61
28687944 2017
11
Histiocytoid cardiomyopathy and ventricular noncompaction presenting as sudden death in an adult male. 61
28939283 2017
12
Risk for life-threatening arrhythmia in newly diagnosed peripartum cardiomyopathy with low ejection fraction: a German multi-centre analysis. 61
28275862 2017
13
Macrocyclic MEK1/2 inhibitor with efficacy in a mouse model of cardiomyopathy caused by lamin A/C gene mutation. 61
28011205 2017
14
Right atrial deformation analysis in isolated left ventricular noncompaction - insights from the three-dimensional speckle tracking echocardiographic MAGYAR-Path Study. 61
27609553 2016
15
Left Ventricular Non-Compaction in Athletes: To Play or Not to Play. 61
27002622 2016
16
Arrhythmogenic cardiomyopathy. 61
27038780 2016
17
Arrhythmogenic Right Ventricular Cardiomyopathy Caused by a Novel Frameshift Mutation. 61
26920198 2016
18
The pathogenicity of genetic variants previously associated with left ventricular non-compaction. 61
27066506 2016
19
[LEFT VENTRICULAR NON-COMPACTION]. 61
26749956 2015
20
Stroke in a Young Individual with Left Ventricular Noncompaction and Left Atrium Standstill. 61
26413113 2015
21
Relationship between arrhythmogenic right ventricular dysplasia and exercise. 61
26002386 2015
22
Sports in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy and desmosomal mutations. 61
25963172 2015
23
Pharmacotherapy and other therapeutic modalities for managing Arrhythmogenic Right Ventricular Cardiomyopathy. 61
25894016 2015
24
Effects of cardiac resynchronization therapy on left ventricular remodeling and dyssynchrony in patients with left ventricular noncompaction and heart failure. 61
25392055 2015
25
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
26
Calcified apical cardiomyopathy: a rare form of endomyocardial fibrosis. 61
23751598 2015
27
Biventricular Noncompaction Cardiomyopathy in an Adult with Unique Facial Dysmorphisms: Case Report and Brief Review. 61
26266056 2015
28
[Extracorporeal membrane oxygenation support for tako-tsubo syndrome after urgent caesarean section]. 61
23993158 2013
29
Left ventricular non-compaction: prevalence in congenital heart disease. 61
22704867 2013
30
Primary endocardial fibroelastosis: an underappreciated cause of cardiomyopathy in children. 61
23518027 2013
31
Biventricular noncompaction presented with symptomatic complete heart block - Report of a case and review of literature. 61
24027376 2013
32
Left bundle branch block, atrioventricular block, torsade de pointes and long QT syndrome: is this too much for a rare cardiomyopathy? 61
23618687 2013
33
Complete atrioventricular block as the first manifestation of noncompaction of the ventricular myocardium. 61
21410729 2013
34
[Isolated left ventricular non-compaction: a single-center experience]. 61
23337431 2013
35
Isolated left ventricular noncompaction in a newborn with Pierre-Robin sequence. 61
22447382 2013
36
Cesarean section in a patient with non-compaction cardiomyopathy managed with ECMO. 61
24364010 2013
37
Isolated right ventricular noncompaction in a newborn. 61
22810045 2013
38
Isolated left ventricular noncompaction: a review of three different presentations for a rare disease. 61
23427367 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
Left ventricular noncompaction in patients with β-thalassemia: uncovering a previously unrecognized abnormality. 61
22965286 2012
41
Arrhythmogenic right ventricular cardiomyopathy: severe structural alterations are associated with inflammation. 61
22944624 2012
42
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a review of molecular and clinical literature. 61
22426942 2012
43
Coexistence of left ventricular noncompaction and double-orifice mitral valve in a patient with congestive heart failure. 61
23692732 2012
44
Distribution of biventricular disease in arrhythmogenic cardiomyopathy: an autopsy study. 61
21937076 2012
45
An unusual cause of cardiac failure. 61
22306783 2012
46
Predictors of appropriate ICD therapy in patients with arrhythmogenic right ventricular cardiomyopathy: long term experience of a tertiary care center. 61
23028419 2012
47
[Rare cause of heart failure in an elderly woman in Djibouti: left ventricular non compaction]. 61
22235629 2011
48
Isolated noncompaction of the left ventricular myocardium in adults: a systematic overview. 61
21872148 2011
49
Left ventricular noncompaction. 61
21119528 2011
50
Ventricular non-compaction in children: clinical characteristics and course. 61
21172941 2011

Variations for Rare Cardiomyopathy

ClinVar genetic disease variations for Rare Cardiomyopathy:

6 (show top 50) (show all 3162) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 PLN NM_002667.5(PLN):c.25C>T (p.Arg9Cys)SNV Pathogenic 13636 rs111033559 6:118880109-118880109 6:118558946-118558946
3 TTR NM_000371.3(TTR):c.148G>A (p.Val50Met)SNV Pathogenic 13417 rs28933979 18:29172937-29172937 18:31592974-31592974
4 TTR NM_000371.3(TTR):c.238A>G (p.Thr80Ala)SNV Pathogenic 13421 rs121918070 18:29175120-29175120 18:31595157-31595157
5 TTR NM_000371.3(TTR):c.424G>A (p.Val142Ile)SNV Pathogenic 13426 rs76992529 18:29178618-29178618 18:31598655-31598655
6 PKP2 NM_004572.3(PKP2):c.2146-1G>CSNV Pathogenic 6756 rs193922674 12:32955491-32955491 12:32802557-32802557
7 PRKAG2 NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)SNV Pathogenic 6846 rs121908987 7:151273498-151273498 7:151576412-151576412
8 GLA NM_000169.2(GLA):c.639+919G>ASNV Pathogenic 10768 rs199473684 X:100654735-100654735 X:101399747-101399747
9 MYBPC3 NM_000256.3(MYBPC3):c.1895del (p.Met632fs)deletion Pathogenic 42581 rs397515934 11:47362691-47362691 11:47341140-47341140
10 MYBPC3 NM_000256.3(MYBPC3):c.2311dup (p.Val771fs)duplication Pathogenic 42615 rs397515960 11:47359342-47359343 11:47337791-47337792
11 MYBPC3 NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs)deletion Pathogenic 42635 rs397515973 11:47359006-47359010 11:47337455-47337459
12 MYBPC3 NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs)deletion Pathogenic 42727 rs397516029 11:47354120-47354120 11:47332569-47332569
13 MYBPC3 NM_000256.3(MYBPC3):c.436dup (p.Thr146fs)duplication Pathogenic 42751 rs397516049 11:47371633-47371634 11:47350082-47350083
14 MYBPC3 NM_000256.3(MYBPC3):c.551dup (p.Lys185fs)duplication Pathogenic 42771 rs397516059 11:47371427-47371428 11:47349876-47349877
15 MYH7 NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)SNV Pathogenic 43106 rs397516269 14:23900635-23900635 14:23431426-23431426
16 MYBPC3 NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter)SNV Pathogenic 177701 rs727504289 11:47354483-47354483 11:47332932-47332932
17 MYBPC3 NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)deletion Pathogenic 164042 rs727503172 11:47354787-47354787 11:47333236-47333236
18 MYBPC3 NM_000256.3(MYBPC3):c.2776_2777CA[2] (p.Thr927fs)short repeat Pathogenic 177660 rs727504265 11:47356717-47356718 11:47335166-47335167
19 MYBPC3 NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter)SNV Pathogenic 177706 rs367947846 11:47367849-47367849 11:47346298-47346298
20 MYBPC3 NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs)duplication Pathogenic 177698 rs730880336 11:47367806-47367810 11:47346254-47346255
21 TNNT2 NM_001276345.2(TNNT2):c.844dup (p.Gln282fs)duplication Pathogenic 181639 rs730881119 1:201328757-201328758 1:201359629-201359630
22 MYBPC3 NM_000256.3(MYBPC3):c.3472_3481del (p.Val1158fs)deletion Pathogenic 181103 rs730880675 11:47354374-47354383 11:47332823-47332832
23 MYBPC3 NM_000256.3(MYBPC3):c.3327del (p.Met1110fs)deletion Pathogenic 181155 rs730880719 11:47354748-47354748 11:47333197-47333197
24 MYBPC3 NM_000256.3(MYBPC3):c.3300_3301CA[1] (p.Thr1101fs)short repeat Pathogenic 181098 rs730880671 11:47354772-47354773 11:47333221-47333222
25 MYBPC3 NM_000256.3(MYBPC3):c.3182_3190+4deldeletion Pathogenic 181154 rs730880718 11:47355104-47355116 11:47333553-47333565
26 MYBPC3 NM_000256.3(MYBPC3):c.3079G>AAindel Pathogenic 181093 rs730880666 11:47355219-47355219 11:47333668-47333668
27 MYBPC3 NM_000256.3(MYBPC3):c.2894_2905+4deldeletion Pathogenic 181153 rs730880717 11:47356589-47356604 11:47335038-47335053
28 MYBPC3 NM_000256.3(MYBPC3):c.2604del (p.Ser871fs)deletion Pathogenic 181082 rs730880655 11:47357561-47357561 11:47336010-47336010
29 MYBPC3 NM_000256.3(MYBPC3):c.2543del (p.Ala848fs)deletion Pathogenic 181151 rs730880715 11:47359001-47359001 11:47337450-47337450
30 MYBPC3 NM_000256.3(MYBPC3):c.2382del (p.Pro795fs)deletion Pathogenic 181150 rs730880714 11:47359272-47359272 11:47337721-47337721
31 MYBPC3 NM_000256.3(MYBPC3):c.1156_1171dup (p.Asp391delinsGlyThrGlyTer)duplication Pathogenic 181117 rs730880689 11:47365094-47365095 11:47343543-47343544
32 MYBPC3 NM_000256.3(MYBPC3):c.852-1G>ASNV Pathogenic 181053 rs368121566 11:47369031-47369031 11:47347480-47347480
33 LAMP2 NM_013995.2(LAMP2):c.584_588dup (p.Val197fs)duplication Pathogenic 180887 rs730880492 X:119581848-119581849 X:120447993-120447994
34 MYBPC3 NM_000256.3:c.3315delGdeletion Pathogenic 181099 rs1565623093
35 TTN NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs)deletion Pathogenic 202482 rs794729354 2:179424468-179424472 2:178559741-178559745
36 MIPEP NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter)SNV Pathogenic 208631 rs114638163 13:24380133-24380133 13:23805994-23805994
37 C1QTNF9 , C1QTNF9B , MIPEP , PCOTH , SACS , SGCG , SPATA13 , TNFRSF19 GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1copy number loss Pathogenic 208634 13:23519916-24941516
38 PLN NM_002667.5(PLN):c.37_39AGA[1] (p.Arg14del)short repeat Pathogenic 44580 rs397516784 6:118880120-118880122 6:118558957-118558959
39 PKP2 NM_001005242.2(PKP2):c.148_151del (p.Thr50fs)deletion Pathogenic 45028 rs397516997 12:33049515-33049518 12:32896581-32896584
40 LMNA NM_170707.4(LMNA):c.1296_1299GCAC[4] (p.Ser437fs)short repeat Pathogenic 66803 rs267607577 1:156106142-156106143 1:156136351-156136352
41 LMNA NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)SNV Pathogenic 66868 rs56793579 1:156084893-156084893 1:156115102-156115102
42 TTN NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)SNV Pathogenic 132133 rs869320740 2:179410829-179410829 2:178546102-178546102
43 SCN1B NM_001037.5(SCN1B):c.308A>T (p.Asp103Val)SNV Pathogenic 375404 rs1057519457 19:35524503-35524503 19:35033599-35033599
44 PKP2 NM_004572.3(PKP2):c.775G>T (p.Glu259Ter)SNV Pathogenic 464432 rs1425855043 12:33031039-33031039 12:32878105-32878105
45 TTN NM_001267550.2(TTN):c.47961del (p.Gly15988fs)deletion Pathogenic 523430 rs1553707780 2:179481655-179481655 2:178616928-178616928
46 MYBPC3 NM_000256.3(MYBPC3):c.1458-1G>CSNV Pathogenic 522220 rs397515903 11:47364296-47364296 11:47342745-47342745
47 UQCRFS1 NM_006003.3(UQCRFS1):c.215-1G>CSNV Pathogenic 619297 rs1568344751 19:29699066-29699066 19:29208159-29208159
48 UQCRFS1 NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter)SNV Pathogenic 619499 rs1242465339 19:29698670-29698670 19:29207763-29207763
49 UQCRFS1 NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp)SNV Pathogenic 619501 rs1568346416 19:29703985-29703985 19:29213078-29213078
50 MYBPC3 NM_000256.3(MYBPC3):c.1890del (p.Phe631fs)deletion Pathogenic 626766 rs1565627110 11:47362696-47362696 11:47341145-47341145

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
12.73 TNNT2 TNNI3 SCN1B RYR2 PLN MYL3
2
Show member pathways
12.36 TNNT2 TNNI3 SCN1B RYR2 PLN MYL3
3 12.25 TNNT2 TNNI3 LMNA ACTC1
4
Show member pathways
12.03 RYR2 PKP2 LMNA DSP DSG2 DMD
5
Show member pathways
11.72 LMNA DSP DSG2
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 11.33 TNNT2 TNNI3 ACTC1
10 11.29 TNNT2 TNNI3 MYL3 MYBPC3 DMD ACTC1

GO Terms for Rare Cardiomyopathy

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 9.58 PKP2 DSP DSG2
2 intercalated disc GO:0014704 9.56 SCN1B PKP2 DSP DSG2
3 desmosome GO:0030057 9.5 PKP2 DSP DSG2
4 myosin filament GO:0032982 9.49 MYH7 MYBPC3
5 A band GO:0031672 9.48 MYL3 MYBPC3
6 muscle myosin complex GO:0005859 9.46 MYL3 MYH7
7 myofibril GO:0030016 9.46 TNNT2 TNNI3 MYH7 DMD
8 troponin complex GO:0005861 9.43 TNNT2 TNNI3
9 cardiac Troponin complex GO:1990584 9.37 TNNT2 TNNI3
10 sarcomere GO:0030017 9.17 TNNT2 TNNI3 RYR2 MYL3 MYH7 MYBPC3
11 cardiac myofibril GO:0097512 9.13 TNNT2 TNNI3 MYBPC3

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.88 TNNI3 TAZ RBM20 PKP2
2 cornification GO:0070268 9.81 PKP2 DSP DSG2
3 cellular calcium ion homeostasis GO:0006874 9.8 TNNI3 RYR2 PLN
4 muscle contraction GO:0006936 9.8 TNNT2 TNNI3 TAZ MYH7
5 skeletal muscle tissue development GO:0007519 9.72 TAZ MYL3 DMD
6 positive regulation of ATPase activity GO:0032781 9.7 TNNT2 MYL3 MYBPC3
7 regulation of heart rate GO:0002027 9.69 RYR2 MYH7 DMD
8 regulation of heart rate by cardiac conduction GO:0086091 9.67 SCN1B PKP2 DSP DSG2
9 skeletal muscle contraction GO:0003009 9.65 TNNT2 TNNI3 MYH7
10 ventricular cardiac muscle cell action potential GO:0086005 9.64 RYR2 PKP2
11 regulation of muscle contraction GO:0006937 9.64 TNNT2 TNNI3
12 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.63 PLN DMD
13 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.63 RYR2 PLN DMD
14 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.63 TNNT2 TNNI3 PKP2 MYL3 MYH7 MYBPC3
15 cardiac muscle cell action potential involved in contraction GO:0086002 9.62 SCN1B PKP2
16 response to muscle stretch GO:0035994 9.61 RYR2 DMD
17 positive regulation of sodium ion transport GO:0010765 9.61 SCN1B PKP2
18 regulation of the force of heart contraction GO:0002026 9.61 PLN MYL3 MYH7
19 striated muscle contraction GO:0006941 9.6 TNNI3 MYH7
20 heart contraction GO:0060047 9.59 TNNI3 ACTC1
21 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.58 RYR2 PKP2
22 negative regulation of ATPase activity GO:0032780 9.58 TNNT2 TNNI3 PLN
23 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.57 TNNI3 RYR2
24 regulation of striated muscle contraction GO:0006942 9.56 MYL3 MYBPC3
25 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.56 RYR2 PKP2 DSP DSG2
26 desmosome organization GO:0002934 9.54 DSP DSG2
27 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.5 PKP2 DSP DSG2
28 muscle filament sliding GO:0030049 9.5 TNNT2 TNNI3 MYL3 MYH7 MYBPC3 DMD
29 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 binding GO:0003779 9.72 TNNT2 TNNI3 MYH7 MYBPC3 DMD
2 ion channel binding GO:0044325 9.54 SCN1B RYR2 PKP2
3 structural constituent of muscle GO:0008307 9.43 MYL3 MYBPC3 DMD
4 troponin C binding GO:0030172 9.16 TNNT2 TNNI3
5 myosin binding GO:0017022 9.13 MYBPC3 DMD ACTC1
6 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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