CMH8
MCID: CRD088
MIFTS: 26

Cardiomyopathy, Familial Hypertrophic, 8 (CMH8)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 8

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 8:

Name: Cardiomyopathy, Familial Hypertrophic, 8 58 12 13 74
Familial Hypertrophic Cardiomyopathy 8 30 6
Cmh8 58 76
Familial Hypertrophic Cardiomyopathy with Mid-Left Ventricular Chamber Type 1 76
Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 1 58
Cardiomyopathy Hypertrophic Mid-Left Ventricular Chamber Type 1 12
Cardiomyopathy, Hypertrophic, Familial, Type 8 41
Cardiomyopathy, Familial Hypertrophic 8 76
Cardiomyopathy, Hypertrophic, 8 58
Hypertrophic Cardiomyopathy 8 12
Mvc1 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

33
cardiomyopathy, familial hypertrophic, 8:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Cardiomyopathy, Familial Hypertrophic, 8

UniProtKB/Swiss-Prot : 76 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 sudden cardiac death

Disease Ontology : 12 A familial 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

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 8:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 33 occasional (7.5%) HP:0001635
2 sudden cardiac death 33 HP:0001645
3 hypertrophic cardiomyopathy 33 HP:0001639
4 left ventricular hypertrophy 33 HP:0001712
5 exertional dyspnea 33 HP:0002875
6 ventricular fibrillation 33 HP:0001663
7 palpitations 33 HP:0001962
8 restrictive cardiomyopathy 33 HP:0001723
9 t-wave inversion 33 HP:0010872
10 endocardial fibrosis 33 HP:0006685
11 left atrial enlargement 33 HP:0031295

Symptoms via clinical synopsis from OMIM:

58
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

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 30 MYL3

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 8

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

42
Heart, Skeletal Muscle

Publications for Cardiomyopathy, Familial Hypertrophic, 8

Articles related to Cardiomyopathy, Familial Hypertrophic, 8:

# Title Authors Year
1
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
2
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
3
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
4
Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy. ( 21823217 )
2011
5
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ( 21267010 )
2011
6
Gene mutations in apical hypertrophic cardiomyopathy. ( 16267253 )
2005
7
Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology. ( 12021217 )
2002
8
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. ( 8673105 )
1996
9
Hypertrophic cardiomyopathy with ventricular septal hypertrophy localized to the apical region of the left ventricle (apical hypertrophic cardiomyopathy). ( 6211078 )
1982

Variations for Cardiomyopathy, Familial Hypertrophic, 8

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

76
# 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 26)
# 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.461G> A (p.Arg154His) single nucleotide variant Conflicting interpretations of pathogenicity rs104893749 GRCh37 Chromosome 3, 46900985: 46900985
4 MYL3 NM_000258.2(MYL3): c.461G> A (p.Arg154His) single nucleotide variant Conflicting interpretations of pathogenicity rs104893749 GRCh38 Chromosome 3, 46859495: 46859495
5 MYL3 NM_000258.2(MYL3): c.427G> A (p.Glu143Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104893750 GRCh37 Chromosome 3, 46901019: 46901019
6 MYL3 NM_000258.2(MYL3): c.427G> A (p.Glu143Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104893750 GRCh38 Chromosome 3, 46859529: 46859529
7 MYL3 NM_000258.2(MYL3): c.281G> A (p.Arg94His) single nucleotide variant Pathogenic/Likely pathogenic rs199474703 GRCh37 Chromosome 3, 46902192: 46902192
8 MYL3 NM_000258.2(MYL3): c.281G> A (p.Arg94His) single nucleotide variant Pathogenic/Likely pathogenic rs199474703 GRCh38 Chromosome 3, 46860702: 46860702
9 MYL3 NM_000258.2(MYL3): c.170C> G (p.Ala57Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs139794067 GRCh37 Chromosome 3, 46902303: 46902303
10 MYL3 NM_000258.2(MYL3): c.170C> G (p.Ala57Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs139794067 GRCh38 Chromosome 3, 46860813: 46860813
11 MYL3 NM_000258.2(MYL3): c.130-14G> T single nucleotide variant Benign/Likely benign rs192329378 GRCh37 Chromosome 3, 46902491: 46902491
12 MYL3 NM_000258.2(MYL3): c.130-14G> T single nucleotide variant Benign/Likely benign rs192329378 GRCh38 Chromosome 3, 46861001: 46861001
13 MYL3 NM_000258.2(MYL3): c.170C> A (p.Ala57Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs139794067 GRCh37 Chromosome 3, 46902303: 46902303
14 MYL3 NM_000258.2(MYL3): c.170C> A (p.Ala57Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs139794067 GRCh38 Chromosome 3, 46860813: 46860813
15 MYL3 NM_000258.2(MYL3): c.69C> T (p.Pro23=) single nucleotide variant Benign/Likely benign rs2233264 GRCh37 Chromosome 3, 46904812: 46904812
16 MYL3 NM_000258.2(MYL3): c.69C> T (p.Pro23=) single nucleotide variant Benign/Likely benign rs2233264 GRCh38 Chromosome 3, 46863322: 46863322
17 MYL3 NM_000258.2(MYL3): c.466G> T (p.Val156Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs199474707 GRCh38 Chromosome 3, 46859490: 46859490
18 MYL3 NM_000258.2(MYL3): c.466G> T (p.Val156Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs199474707 GRCh37 Chromosome 3, 46900980: 46900980
19 MYL3 NM_000258.2(MYL3): c.4G> C (p.Ala2Pro) single nucleotide variant Uncertain significance rs148310342 GRCh37 Chromosome 3, 46904877: 46904877
20 MYL3 NM_000258.2(MYL3): c.4G> C (p.Ala2Pro) single nucleotide variant Uncertain significance rs148310342 GRCh38 Chromosome 3, 46863387: 46863387
21 MYL3 NM_000258.2(MYL3): c.220G> A (p.Gly74Arg) single nucleotide variant Uncertain significance rs730880956 GRCh37 Chromosome 3, 46902253: 46902253
22 MYL3 NM_000258.2(MYL3): c.220G> A (p.Gly74Arg) single nucleotide variant Uncertain significance rs730880956 GRCh38 Chromosome 3, 46860763: 46860763
23 MYL3 NM_000258.2(MYL3): c.307+15C> T single nucleotide variant Benign/Likely benign rs184025552 GRCh38 Chromosome 3, 46860661: 46860661
24 MYL3 NM_000258.2(MYL3): c.307+15C> T single nucleotide variant Benign/Likely benign rs184025552 GRCh37 Chromosome 3, 46902151: 46902151
25 MYL3 NM_000258.2(MYL3): c.481G> T (p.Gly161Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 46859475: 46859475
26 MYL3 NM_000258.2(MYL3): c.481G> T (p.Gly161Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 46900965: 46900965

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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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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