MCID: CRD204
MIFTS: 30

Cardiomyopathy, Hypertrophic, 10

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic, 10

MalaCards integrated aliases for Cardiomyopathy, Hypertrophic, 10:

Name: Cardiomyopathy, Hypertrophic, 10 54
Cardiomyopathy, Familial Hypertrophic, 10 12 13 69
Cmh10 12 71
Familial Hypertrophic Cardiomyopathy with Mid-Left Ventricular Chamber Type 2 71
Cardiomyopathy, Familial Hypertrophic 10 71
Familial Hypertrophic Cardiomyopathy 10 29
Hypertrophic Cardiomyopathy 10 12
Mvc2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
early onset in some patients
premature fatigue on exertion
reduced penetrance is present in some families
some affected individuals may be asymptomatic
marked variability in severity of phenotype


HPO:

32
cardiomyopathy, hypertrophic, 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 608758
Disease Ontology 12 DOID:0110316
MedGen 40 C1834460
MeSH 42 D024741

Summaries for Cardiomyopathy, Hypertrophic, 10

UniProtKB/Swiss-Prot : 71 Cardiomyopathy, familial hypertrophic 10: 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. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening.

MalaCards based summary : Cardiomyopathy, Hypertrophic, 10, is also known as cardiomyopathy, familial hypertrophic, 10, and has symptoms including hypertrophic cardiomyopathy, ventricular tachycardia and left ventricular septal hypertrophy. An important gene associated with Cardiomyopathy, Hypertrophic, 10 is MYL2 (Myosin Light Chain 2). The drugs Spironolactone and diuretics have been mentioned in the context of this disorder. Affiliated tissues include heart and testes.

Disease Ontology : 12 A hypertrophic cardiomyopathy that has material basis in mutation in the MYL2 gene.

Description from OMIM: 608758

Related Diseases for Cardiomyopathy, Hypertrophic, 10

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, Familial Hypertrophic, 26
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 Actc1-Related Familial Hypertrophic Cardiomyopathy
Actn2-Related Familial Hypertrophic Cardiomyopathy Calr3-Related Familial Hypertrophic Cardiomyopathy
Cav3-Related Hypertrophic Cardiomyopathy Csrp3-Related Familial Hypertrophic Cardiomyopathy
Jph2-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

Symptoms & Phenotypes for Cardiomyopathy, Hypertrophic, 10

Symptoms via clinical synopsis from OMIM:

54

Cardiovascular- Heart:
palpitations
supraventricular tachycardia (in some patients)
asymmetric septal hypertrophy
chest pain
left ventricular hypertrophy pattern seen on electrocardiogram (ecg)
more
Muscle Soft Tissue:
subsarcolemmal accumulations of cytochrome oxidase-positive mitochondria (in some patients)
myopathic changes seen on biopsy (in some patients)
ragged red fiber pattern seen on biopsy (in some patients)

Respiratory:
dyspnea

Neurologic- Central Nervous System:
dizziness


Clinical features from OMIM:

608758

Human phenotypes related to Cardiomyopathy, Hypertrophic, 10:

32
id Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 32 HP:0001639
2 ventricular tachycardia 32 HP:0004756
3 left ventricular septal hypertrophy 32 HP:0005144

Drugs & Therapeutics for Cardiomyopathy, Hypertrophic, 10

Drugs for Cardiomyopathy, Hypertrophic, 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
2 diuretics Phase 4
3 Mineralocorticoid Receptor Antagonists Phase 4
4 Mineralocorticoids Phase 4
5 Natriuretic Agents Phase 4
6 Hormone Antagonists Phase 4
7 Hormones Phase 4
8 Diuretics, Potassium Sparing Phase 4
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
10
Trimetazidine Approved Phase 2 5011-34-7
11 Vasodilator Agents Phase 2
12
Dipyridamole Approved 58-32-2 3108
13
Amlodipine Approved 88150-42-9 2162
14
Dobutamine Approved 34368-04-2 36811
15 calcium channel blockers
16 Adrenergic Agents
17 Adrenergic Agonists
18 Adrenergic beta-Agonists
19 Neurotransmitter Agents
20 Peripheral Nervous System Agents
21 Protective Agents
22 Antihypertensive Agents
23 Autonomic Agents
24 Calcium, Dietary
25 Tin Fluorides

Interventional clinical trials:

(show all 13)

id Name Status NCT ID Phase Drugs
1 Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy Not yet recruiting NCT02948998 Phase 4 Spironolactone
2 Trimetazidine Therapy in Hypertrophic Cardiomyopathy Unknown status NCT01696370 Phase 2 Trimetazidine
3 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
4 Exercise Training in Patients With Hypertrophic Cardiomyopathy Unknown status NCT01518114
5 Study of Hypertrophic Cardiomyopathy Under Stress Conditions. Concordance Between Two Complementary Tests: Stress MRI and Exercice Stress Echocardiography Unknown status NCT02500420
6 Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy Unknown status NCT01623245
7 The Perceived Impact of Children s Risk Status for Hypertrophic Cardiomyopathy on Families: an Exploratory Study Completed NCT01160536
8 Value of Cardiac Magnetic Resonance (CMR) Derived Parameters for Diagnosing Left Ventricular Non-compaction Cardiomyopathy Completed NCT01481298
9 Reduced Contractile Reserve: a Therapeutic Target in Heart Failure With Preserved Ejection Fraction(HFpEF) Completed NCT01354613 Dobutamine;Amlodipine
10 Stress Echo 2020 - The International Stress Echo Study Recruiting NCT03049995
11 Non-Invasive Evaluation of Myocardial Stiffness by Elastography in Pediatric Cardiology (Elasto-Pédiatrie) Recruiting NCT02619825
12 Prognosis of Subjects With Unexplainable Precordial Deep T-wave Inversion Without Wall Thickness> 15mm Recruiting NCT02692508
13 Assessment of the Incremental Haemodialysis Security and Effectiveness in Incident Patients Not yet recruiting NCT03239808

Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 10

Genetic Tests for Cardiomyopathy, Hypertrophic, 10

Genetic tests related to Cardiomyopathy, Hypertrophic, 10:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 10 29

Anatomical Context for Cardiomyopathy, Hypertrophic, 10

MalaCards organs/tissues related to Cardiomyopathy, Hypertrophic, 10:

39
Heart, Testes

Publications for Cardiomyopathy, Hypertrophic, 10

Variations for Cardiomyopathy, Hypertrophic, 10

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Hypertrophic, 10:

71
id Symbol AA change Variation ID SNP ID
1 MYL2 p.Ala13Thr VAR_004601 rs104894363
2 MYL2 p.Phe18Leu VAR_004602 rs28932774
3 MYL2 p.Glu22Lys VAR_004603 rs104894368
4 MYL2 p.Arg58Gln VAR_004604 rs28933099
5 MYL2 p.Pro95Ala VAR_004605 rs121913658
6 MYL2 p.Asp166Val VAR_019844 rs199474815

ClinVar genetic disease variations for Cardiomyopathy, Hypertrophic, 10:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYL2 NM_000432.3(MYL2): c.64G> A (p.Glu22Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894368 GRCh37 Chromosome 12, 111356937: 111356937
2 MYL2 NM_000432.3(MYL2): c.283C> G (p.Pro95Ala) single nucleotide variant Pathogenic rs121913658 GRCh37 Chromosome 12, 111351120: 111351120
3 MYL2 NM_000432.3(MYL2): c.173G> A (p.Arg58Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894369 GRCh37 Chromosome 12, 111352091: 111352091
4 MYL2 NM_000432.3(MYL2): c.52T> C (p.Phe18Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894370 GRCh37 Chromosome 12, 111356949: 111356949
5 MYL2 NM_000432.3(MYL2): c.403-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs199474813 GRCh37 Chromosome 12, 111348980: 111348980
6 MYL2 NM_000432.3(MYL2): c.125G> A (p.Gly42Asp) single nucleotide variant Likely pathogenic rs863225117 GRCh38 Chromosome 12, 110915759: 110915759
7 MYL2 NC_000012.12: g.(?_110910819)_(110911175_?)del deletion Pathogenic GRCh37 Chromosome 12, 111348623: 111348979

Expression for Cardiomyopathy, Hypertrophic, 10

Search GEO for disease gene expression data for Cardiomyopathy, Hypertrophic, 10.

Pathways for Cardiomyopathy, Hypertrophic, 10

GO Terms for Cardiomyopathy, Hypertrophic, 10

Sources for Cardiomyopathy, Hypertrophic, 10

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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