CMH6
MCID: CRD199
MIFTS: 36

Cardiomyopathy, Hypertrophic 6 (CMH6) malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic 6

Aliases & Descriptions for Cardiomyopathy, Hypertrophic 6:

Name: Cardiomyopathy, Hypertrophic 6 54
Cardiomyopathy, Familial Hypertrophic 6 12 66 29 13
Hypertrophic Cardiomyopathy 6 12 14
Cmh6 12 66
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 66
Cardiomyopathy, Familial Hypertrophic, 6 69

Characteristics:

HPO:

32
cardiomyopathy, hypertrophic 6:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 600858
Disease Ontology 12 DOID:0110312
MedGen 40 C1833236
MeSH 42 D024741

Summaries for Cardiomyopathy, Hypertrophic 6

UniProtKB/Swiss-Prot : 66 Cardiomyopathy, familial hypertrophic 6: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH6 patients present Wolff-Parkinson-White ventricular preexcitation, enlarged myocytes without myofiber disarray, and glycogen-containing cytosolic vacuoles within cardiomyocytes.

MalaCards based summary : Cardiomyopathy, Hypertrophic 6, also known as cardiomyopathy, familial hypertrophic 6, is related to familial hypertrophic cardiomyopathy with wolff-parkinson-white syndrome, prkag2-related and cardiomyopathy, familial hypertrophic, and has symptoms including hypertrophic cardiomyopathy, atrioventricular block and wolff-parkinson-white syndrome. An important gene associated with Cardiomyopathy, Hypertrophic 6 is PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2). The drugs Tadalafil and Phosphodiesterase 5 Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart.

Disease Ontology : 12 A hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2).

OMIM : 54 Mutations in the PRKAG2 gene (602743) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis... (600858) more...

Related Diseases for Cardiomyopathy, Hypertrophic 6

Diseases in the Cardiomyopathy, Familial Hypertrophic family:

Cardiomyopathy, Hypertrophic, 20 Cardiomyopathy, Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 9 Cardiomyopathy, Hypertrophic, 13
Cardiomyopathy, Hypertrophic, 8 Cardiomyopathy, Hypertrophic, 16
Cardiomyopathy, Hypertrophic, 18 Cardiomyopathy, Hypertrophic 6
Cardiomyopathy, Hypertrophic, 15 Cardiomyopathy, Hypertrophic, 12
Cardiomyopathy, Hypertrophic, 4 Cardiomyopathy, Hypertrophic, 10
Cardiomyopathy, Hypertrophic, 14 Cardiomyopathy, Hypertrophic, 11
Cardiomyopathy, Hypertrophic, 3 Cardiomyopathy, Hypertrophic, 25
Cardiomyopathy, Hypertrophic, 19 Cardiomyopathy, Hypertrophic, 7
Cardiomyopathy, Hypertrophic, 17 Hypertrophic Cardiomyopathy 21
Hypertrophic Cardiomyopathy 26 Calr3-Related Familial Hypertrophic Cardiomyopathy
Jph2-Related Familial Hypertrophic Cardiomyopathy Actc1-Related Familial Hypertrophic Cardiomyopathy
Actn2-Related Familial Hypertrophic Cardiomyopathy Cav3-Related Hypertrophic Cardiomyopathy
Csrp3-Related Familial Hypertrophic Cardiomyopathy Mybpc3-Related Familial Hypertrophic Cardiomyopathy
Myh6-Related Familial Hypertrophic Cardiomyopathy Myh7-Related Familial Hypertrophic Cardiomyopathy
Myl2-Related Familial Hypertrophic Cardiomyopathy Myl3-Related Familial Hypertrophic Cardiomyopathy
Myoz2-Related Familial Hypertrophic Cardiomyopathy Nexn-Related Familial Hypertrophic Cardiomyopathy
Pln-Related Familial Hypertrophic Cardiomyopathy Tcap-Related Familial Hypertrophic Cardiomyopathy
Tnnc1-Related Familial Hypertrophic Cardiomyopathy Tnni3-Related Familial Hypertrophic Cardiomyopathy
Tnnt2-Related Familial Hypertrophic Cardiomyopathy Tpm1-Related Familial Hypertrophic Cardiomyopathy
Ttn-Related Familial Hypertrophic Cardiomyopathy Vcl-Related Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy Due to Intensive Athletic Training Cardiomyopathy, Infantile Hypertrophic

Diseases related to Cardiomyopathy, Hypertrophic 6 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 familial hypertrophic cardiomyopathy with wolff-parkinson-white syndrome, prkag2-related 12.4
2 cardiomyopathy, familial hypertrophic 10.8
3 wolff-parkinson-white syndrome 10.3
4 cardiomyopathy 10.3
5 holoprosencephaly-3 9.4 LMOD1 LMOD2 PRKAG2 TMOD1

Graphical network of the top 20 diseases related to Cardiomyopathy, Hypertrophic 6:



Diseases related to Cardiomyopathy, Hypertrophic 6

Symptoms & Phenotypes for Cardiomyopathy, Hypertrophic 6

Symptoms by clinical synopsis from OMIM:

600858

Clinical features from OMIM:

600858

Human phenotypes related to Cardiomyopathy, Hypertrophic 6:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 32 HP:0001639
2 atrioventricular block 32 HP:0001678
3 wolff-parkinson-white syndrome 32 HP:0001716
4 ventricular preexcitation 32 HP:0004309
5 atrial fibrillation 32 HP:0005110
6 sinus bradycardia 32 HP:0001688
7 asymmetric septal hypertrophy 32 HP:0001670
8 left bundle branch block 32 HP:0011713

Drugs & Therapeutics for Cardiomyopathy, Hypertrophic 6

Drugs for Cardiomyopathy, Hypertrophic 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 45)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
2 Phosphodiesterase 5 Inhibitors Phase 4
3 Phosphodiesterase Inhibitors Phase 4
4 Vasodilator Agents Phase 4,Phase 2
5 Anticholesteremic Agents Phase 4
6 Antimetabolites Phase 4
7 Atorvastatin Calcium Phase 4 134523-03-8
8 Calcium, Dietary Phase 4,Phase 2
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
10 Hypolipidemic Agents Phase 4
11 Lipid Regulating Agents Phase 4
12
Atenolol Approved Phase 3 29122-68-7 2249
13
Losartan Approved Phase 3 114798-26-4 3961
14 Adrenergic Agents Phase 3
15 Adrenergic Antagonists Phase 3
16 Adrenergic beta-1 Receptor Antagonists Phase 3
17 Adrenergic beta-Antagonists Phase 3
18
Angiotensin II Phase 3 68521-88-0, 11128-99-7 65143 172198
19 Angiotensin II Type 1 Receptor Blockers Phase 3
20 Angiotensin Receptor Antagonists Phase 3
21 Angiotensinogen Phase 3
22 Anti-Arrhythmia Agents Phase 3
23 Antihypertensive Agents Phase 3
24 Autonomic Agents Phase 3
25 Neurotransmitter Agents Phase 3
26 Peripheral Nervous System Agents Phase 3,Phase 2
27 Sympatholytics Phase 3
28
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
29
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
30
Perhexiline Approved Phase 2 6621-47-2 4746
31
Pirfenidone Investigational Phase 2 53179-13-8 40632
32 Analgesics Phase 2
33 Analgesics, Non-Narcotic Phase 2
34 Anti-Inflammatory Agents Phase 2
35 Anti-Inflammatory Agents, Non-Steroidal Phase 2
36 Antirheumatic Agents Phase 2
37 Antifungal Agents Phase 2
38 Anti-Infective Agents Phase 2
39 Calcineurin Inhibitors Phase 2
40 Dermatologic Agents Phase 2
41 Immunosuppressive Agents Phase 2
42 calcium channel blockers Phase 2
43 carnitine Nutraceutical Phase 2
44 diuretics
45 Tin Fluorides

Interventional clinical trials:

(show all 19)
id Name Status NCT ID Phase
1 REmodelling in Diabetic CardiOmapathy: Gender Response to PDE5i InhibiTOrs Recruiting NCT01803828 Phase 4
2 Effects of Atorvastatin Treatment on Left Ventricular Diastolic Function in Peritoneal Dialysis Patients Recruiting NCT01503671 Phase 4
3 Aortic Stenosis and PhosphodiEsterase iNhibition With Aortic Valve Replacement (ASPEN-AVR): A Pilot Study Terminated NCT01272388 Phase 4
4 Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan Syndrome Completed NCT00723801 Phase 3
5 Effect of Eleclazine (GS-6615) on Exercise Capacity in Subjects With Symptomatic Hypertrophic Cardiomyopathy Terminated NCT02291237 Phase 2, Phase 3
6 Hypertrophic Cardiomyopathy Symptom Release by BX1514M Completed NCT02590809 Phase 2
7 Pirfenidone to Treat Hypertrophic Cardiomyopathy Completed NCT00011076 Phase 2
8 Cyclosporine A to Treat Hypertrophic Cardiomyopathy (HCM) Completed NCT00001965 Phase 2
9 Studying the Effectiveness of Pacemaker Therapy in Children Who Have Thickened Heart Muscle Completed NCT00001960 Phase 2
10 CArdiac Desynchronization In Obstructive HCM, CARDIO-HCM Recruiting NCT01332162 Phase 2
11 Open-Label Study of Perhexiline in Patients With Hypertrophic Cardiomyopathy and Moderate to Severe Heart Failure Recruiting NCT02862600 Phase 2
12 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2
13 Feasibility Study of Radiofrequency Heating of Cardiac Infarction Scar to Treat Heart Failure Terminated NCT00881777 Phase 1, Phase 2
14 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2
15 Effects of Continous Positive Airway Pressure (CPAP) in Hypertrophic Cardiomyopathy Completed NCT01631006
16 Functional Capacity and Quality of Life Following Septal Myectomy in Patients With HCM Recruiting NCT03092843
17 Stress Echo 2020 - The International Stress Echo Study Recruiting NCT03049995
18 Evaluating Microvascular Dysfunction in Symptomatic Patients With HypertroPhic CaRdiomyopathy Not yet recruiting NCT02994615
19 Follow-up of Myocardial T1 Relaxation Time in Patients With Anderson Fabry Disease Not yet recruiting NCT02956954

Search NIH Clinical Center for Cardiomyopathy, Hypertrophic 6

Genetic Tests for Cardiomyopathy, Hypertrophic 6

Genetic tests related to Cardiomyopathy, Hypertrophic 6:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 6 29

Anatomical Context for Cardiomyopathy, Hypertrophic 6

MalaCards organs/tissues related to Cardiomyopathy, Hypertrophic 6:

39
Heart

Publications for Cardiomyopathy, Hypertrophic 6

Variations for Cardiomyopathy, Hypertrophic 6

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Hypertrophic 6:

66
id Symbol AA change Variation ID SNP ID
1 PRKAG2 p.Arg302Gln VAR_013264 rs121908987
2 PRKAG2 p.His383Arg VAR_013266 rs121908988
3 PRKAG2 p.Thr400Asn VAR_013267 rs28938173
4 PRKAG2 p.Asn488Ile VAR_013268 rs121908989

ClinVar genetic disease variations for Cardiomyopathy, Hypertrophic 6:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PRKAG2 NM_016203.3(PRKAG2): c.905G> A (p.Arg302Gln) single nucleotide variant Pathogenic rs121908987 GRCh37 Chromosome 7, 151273498: 151273498
2 PRKAG2 NM_016203.3(PRKAG2): c.1148A> G (p.His383Arg) single nucleotide variant Pathogenic rs121908988 GRCh37 Chromosome 7, 151265887: 151265887
3 PRKAG2 NM_016203.3(PRKAG2): c.1050_1051insTTA (p.Arg350_Glu351insLeu) insertion Pathogenic rs587776643 GRCh37 Chromosome 7, 151269750: 151269751
4 PRKAG2 NM_016203.3(PRKAG2): c.1199C> A (p.Thr400Asn) single nucleotide variant Pathogenic/Likely pathogenic rs28938173 GRCh37 Chromosome 7, 151265836: 151265836
5 PRKAG2 NM_016203.3(PRKAG2): c.1463A> T (p.Asn488Ile) single nucleotide variant Pathogenic rs121908989 GRCh37 Chromosome 7, 151261285: 151261285
6 PRKAG2 NM_016203.3(PRKAG2): c.1459T> C (p.Tyr487His) single nucleotide variant Pathogenic rs267606976 GRCh37 Chromosome 7, 151261289: 151261289
7 PRKAG2 NM_016203.3(PRKAG2): c.1589A> G (p.His530Arg) single nucleotide variant Pathogenic rs267606977 GRCh37 Chromosome 7, 151257699: 151257699
8 PRKAG2 NM_016203.3(PRKAG2): c.1516G> C (p.Glu506Gln) single nucleotide variant Pathogenic/Likely pathogenic rs267606978 GRCh37 Chromosome 7, 151261232: 151261232
9 PRKAG2 NM_016203.3(PRKAG2): c.1642T> C (p.Ser548Pro) single nucleotide variant Pathogenic rs267606979 GRCh37 Chromosome 7, 151257646: 151257646

Expression for Cardiomyopathy, Hypertrophic 6

Search GEO for disease gene expression data for Cardiomyopathy, Hypertrophic 6.

Pathways for Cardiomyopathy, Hypertrophic 6

GO Terms for Cardiomyopathy, Hypertrophic 6

Cellular components related to Cardiomyopathy, Hypertrophic 6 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.43 LMOD1 LMOD2 TMOD1
2 actin filament GO:0005884 9.33 LMOD1 LMOD2 TMOD1
3 sarcomere GO:0030017 9.13 LMOD1 LMOD2 TMOD1
4 myofibril GO:0030016 8.8 LMOD1 LMOD2 TMOD1

Biological processes related to Cardiomyopathy, Hypertrophic 6 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.26 LMOD1 TMOD1
2 positive regulation of actin filament polymerization GO:0030838 9.16 LMOD1 LMOD2
3 actin nucleation GO:0045010 8.96 LMOD1 LMOD2
4 pointed-end actin filament capping GO:0051694 8.8 LMOD1 LMOD2 TMOD1

Molecular functions related to Cardiomyopathy, Hypertrophic 6 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.13 LMOD1 LMOD2 TMOD1
2 tropomyosin binding GO:0005523 8.8 LMOD1 LMOD2 TMOD1

Sources for Cardiomyopathy, Hypertrophic 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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