CMH8
MCID: CRD196
MIFTS: 28

Cardiomyopathy, Hypertrophic, 8 (CMH8) malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic, 8

Aliases & Descriptions for Cardiomyopathy, Hypertrophic, 8:

Name: Cardiomyopathy, Hypertrophic, 8 54
Cardiomyopathy, Familial Hypertrophic, 8 12 13 69
Cardiomyopathy, Familial Hypertrophic 8 66 29
Familial Hypertrophic Cardiomyopathy with Mid-Left Ventricular Chamber Type 1 66
Cardiomyopathy Hypertrophic Mid-Left Ventricular Chamber Type 1 12
Hypertrophic Cardiomyopathy 8 12
Mvc1 66
Cmh8 66

Characteristics:

HPO:

32
cardiomyopathy, hypertrophic, 8:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 608751
Disease Ontology 12 DOID:0110314
MedGen 40 C1837471
MeSH 42 D024741

Summaries for Cardiomyopathy, Hypertrophic, 8

UniProtKB/Swiss-Prot : 66 Cardiomyopathy, familial hypertrophic 8: 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, 8, also known as cardiomyopathy, familial hypertrophic, 8, is related to cardiomyopathy, familial hypertrophic, and has symptoms including hypertrophic cardiomyopathy, restrictive cardiomyopathy and endocardial fibrosis. An important gene associated with Cardiomyopathy, Hypertrophic, 8 is MYL3 (Myosin Light Chain 3). The drugs Carvedilol and Doxazosin have been mentioned in the context of this disorder. Affiliated tissues include heart.

Disease Ontology : 12 A hypertrophic cardiomyopathy that has material basis in homozygous or heterozygous mutation in the MYL3 gene.

Description from OMIM: 608751

Related Diseases for Cardiomyopathy, Hypertrophic, 8

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, 8 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic 10.9

Symptoms & Phenotypes for Cardiomyopathy, Hypertrophic, 8

Clinical features from OMIM:

608751

Human phenotypes related to Cardiomyopathy, Hypertrophic, 8:

32
id Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 32 HP:0001639
2 restrictive cardiomyopathy 32 HP:0001723
3 endocardial fibrosis 32 HP:0006685

Drugs & Therapeutics for Cardiomyopathy, Hypertrophic, 8

Drugs for Cardiomyopathy, Hypertrophic, 8 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
2
Doxazosin Approved Phase 4 74191-85-8 3157
3
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
4
Chlorthalidone Approved Phase 4 77-36-1 2732
5
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
6 Adrenergic Agents Phase 4
7 Adrenergic alpha-1 Receptor Antagonists Phase 4
8 Adrenergic alpha-Antagonists Phase 4
9 Adrenergic Antagonists Phase 4
10 Adrenergic beta-1 Receptor Antagonists Phase 4
11 Adrenergic beta-Antagonists Phase 4
12 Anti-Arrhythmia Agents Phase 4
13 Antihypertensive Agents Phase 4
14 Autonomic Agents Phase 4
15 Neurotransmitter Agents Phase 4
16 Peripheral Nervous System Agents Phase 4
17 Sympatholytics Phase 4
18 Vasodilator Agents Phase 4,Phase 2
19 diuretics Phase 4
20 Diuretics, Potassium Sparing Phase 4
21 Hormone Antagonists Phase 4
22 Hormones Phase 4
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
24 Mineralocorticoid Receptor Antagonists Phase 4
25 Mineralocorticoids Phase 4
26 Natriuretic Agents Phase 4
27 Sodium Chloride Symporter Inhibitors Phase 4
28
Perhexiline Approved Phase 2 6621-47-2 4746
29 calcium channel blockers Phase 2
30 Calcium, Dietary Phase 2
31 carnitine Nutraceutical Phase 2
32 Tin Fluorides

Interventional clinical trials:


id Name Status NCT ID Phase
1 Effect of Beta-blockers on Structural Remodeling and Gene Expression in the Failing Human Heart Completed NCT01798992 Phase 4
2 Comparing the Effects of Spironolactone With Chlortalidone on LV Mass in Patients With CKD Recruiting NCT02502981 Phase 4
3 Open-Label Study of Perhexiline in Patients With Hypertrophic Cardiomyopathy and Moderate to Severe Heart Failure Recruiting NCT02862600 Phase 2
4 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2
5 Stress Echo 2020 - The International Stress Echo Study Recruiting NCT03049995
6 Cardiac Rehabilitation in Patients With HCM Without LV Outflow Tract Obstruction With Preserved EF - Pilot Study Not yet recruiting NCT03178357

Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 8

Genetic Tests for Cardiomyopathy, Hypertrophic, 8

Genetic tests related to Cardiomyopathy, Hypertrophic, 8:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 8 29

Anatomical Context for Cardiomyopathy, Hypertrophic, 8

MalaCards organs/tissues related to Cardiomyopathy, Hypertrophic, 8:

39
Heart

Publications for Cardiomyopathy, Hypertrophic, 8

Variations for Cardiomyopathy, Hypertrophic, 8

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Hypertrophic, 8:

66
id Symbol AA change Variation ID SNP ID
1 MYL3 p.Met149Val VAR_004599 rs104893748
2 MYL3 p.Arg154His VAR_004600 rs104893749
3 MYL3 p.Glu56Gly VAR_019842 rs199474702
4 MYL3 p.Glu143Lys VAR_019843 rs104893750
5 MYL3 p.Glu177Gly VAR_073726 rs193922391

ClinVar genetic disease variations for Cardiomyopathy, Hypertrophic, 8:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYL3 NM_000258.2(MYL3): c.445A> G (p.Met149Val) single nucleotide variant Pathogenic rs104893748 GRCh37 Chromosome 3, 46901001: 46901001

Expression for Cardiomyopathy, Hypertrophic, 8

Search GEO for disease gene expression data for Cardiomyopathy, Hypertrophic, 8.

Pathways for Cardiomyopathy, Hypertrophic, 8

GO Terms for Cardiomyopathy, Hypertrophic, 8

Sources for Cardiomyopathy, Hypertrophic, 8

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
Content
Loading form....