MCID: CRD088
MIFTS: 23

Cardiomyopathy, Familial Hypertrophic, 8

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 8

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 8:

Name: Cardiomyopathy, Familial Hypertrophic, 8 57 12 13 73
Familial Hypertrophic Cardiomyopathy 8 29 6
Cmh8 57 75
Familial Hypertrophic Cardiomyopathy with Mid-Left Ventricular Chamber Type 1 75
Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 1 57
Cardiomyopathy Hypertrophic Mid-Left Ventricular Chamber Type 1 12
Cardiomyopathy, Hypertrophic, Familial, Type 8 40
Cardiomyopathy, Familial Hypertrophic 8 75
Cardiomyopathy, Hypertrophic, 8 57
Hypertrophic Cardiomyopathy 8 12
Mvc1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
early onset in some patients
sudden cardiac death in some patients
early-onset severe disease in homozygous patients


HPO:

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


Classifications:



Summaries for Cardiomyopathy, Familial Hypertrophic, 8

UniProtKB/Swiss-Prot : 75 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, Familial Hypertrophic, 8, is also known as familial hypertrophic cardiomyopathy 8, and has symptoms including dyspnea on exertion An important gene associated with Cardiomyopathy, Familial Hypertrophic, 8 is MYL3 (Myosin Light Chain 3). Affiliated tissues include heart and skeletal muscle, and related phenotypes are congestive heart failure and hypertrophic cardiomyopathy

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

Description from OMIM: 608751

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 8

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
sudden cardiac death
cardiac arrest
ventricular fibrillation
palpitations
interstitial fibrosis
more
Cardiovascular Vascular:
congestive heart failure (in some patients)
pulmonary hypertension, mild (in some patients)

Respiratory:
exertional dyspnea
paroxysmal nocturnal dyspnea (in some patients)

Muscle Soft Tissue:
myopathic changes on skeletal muscle biopsy (in some patients)
ragged red fiber pattern on skeletal muscle biopsy (in some patients)
subsarcolemmal accumulations of cytochrome oxidase-positive mitochondria (in some patients)


Clinical features from OMIM:

608751

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 8:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 32 occasional (7.5%) HP:0001635
2 hypertrophic cardiomyopathy 32 HP:0001639
3 sudden cardiac death 32 HP:0001645
4 ventricular fibrillation 32 HP:0001663
5 restrictive cardiomyopathy 32 HP:0001723
6 palpitations 32 HP:0001962
7 exertional dyspnea 32 HP:0002875
8 endocardial fibrosis 32 HP:0006685

UMLS symptoms related to Cardiomyopathy, Familial Hypertrophic, 8:


dyspnea on exertion

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 8

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 8

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 8

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 8:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 8 29 MYL3

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 8

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

41
Heart, Skeletal Muscle

Publications for Cardiomyopathy, Familial Hypertrophic, 8

Variations for Cardiomyopathy, Familial Hypertrophic, 8

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

75
# 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, Familial Hypertrophic, 8:

6
(show all 12)
# 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
2 MYL3 NM_000258.2(MYL3): c.445A> G (p.Met149Val) single nucleotide variant Pathogenic rs104893748 GRCh38 Chromosome 3, 46859511: 46859511
3 MYL3 NM_000258.2(MYL3): c.281G> A (p.Arg94His) single nucleotide variant Pathogenic/Likely pathogenic rs199474703 GRCh37 Chromosome 3, 46902192: 46902192
4 MYL3 NM_000258.2(MYL3): c.281G> A (p.Arg94His) single nucleotide variant Pathogenic/Likely pathogenic rs199474703 GRCh38 Chromosome 3, 46860702: 46860702
5 MYL3 NM_000258.2(MYL3): c.466G> T (p.Val156Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs199474707 GRCh37 Chromosome 3, 46900980: 46900980
6 MYL3 NM_000258.2(MYL3): c.466G> T (p.Val156Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs199474707 GRCh38 Chromosome 3, 46859490: 46859490
7 MYL3 NM_000258.2(MYL3): c.4G> C (p.Ala2Pro) single nucleotide variant Uncertain significance rs148310342 GRCh37 Chromosome 3, 46904877: 46904877
8 MYL3 NM_000258.2(MYL3): c.4G> C (p.Ala2Pro) single nucleotide variant Uncertain significance rs148310342 GRCh38 Chromosome 3, 46863387: 46863387
9 MYL3 NM_000258.2(MYL3): c.220G> A (p.Gly74Arg) single nucleotide variant Uncertain significance rs730880956 GRCh37 Chromosome 3, 46902253: 46902253
10 MYL3 NM_000258.2(MYL3): c.220G> A (p.Gly74Arg) single nucleotide variant Uncertain significance rs730880956 GRCh38 Chromosome 3, 46860763: 46860763
11 MYL3 NM_000258.2(MYL3): c.307+15C> T single nucleotide variant Benign/Likely benign rs184025552 GRCh38 Chromosome 3, 46860661: 46860661
12 MYL3 NM_000258.2(MYL3): c.307+15C> T single nucleotide variant Benign/Likely benign rs184025552 GRCh37 Chromosome 3, 46902151: 46902151

Expression for Cardiomyopathy, Familial Hypertrophic, 8

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

Pathways for Cardiomyopathy, Familial Hypertrophic, 8

GO Terms for Cardiomyopathy, Familial Hypertrophic, 8

Sources for Cardiomyopathy, Familial Hypertrophic, 8

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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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