CMH10
MCID: CRD087
MIFTS: 26

Cardiomyopathy, Familial Hypertrophic, 10 (CMH10)

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

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 10

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 10:

Name: Cardiomyopathy, Familial Hypertrophic, 10 58 12 13 74
Cmh10 58 12 76
Familial Hypertrophic Cardiomyopathy 10 30 6
Familial Hypertrophic Cardiomyopathy with Mid-Left Ventricular Chamber Type 2 76
Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 2 58
Cardiomyopathy, Hypertrophic, Familial, Type 10 41
Cardiomyopathy, Familial Hypertrophic 10 76
Cardiomyopathy, Hypertrophic, 10 58
Hypertrophic Cardiomyopathy 10 12
Mvc2 76

Characteristics:

OMIM:

58
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:

33
cardiomyopathy, familial hypertrophic, 10:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Familial Hypertrophic, 10

UniProtKB/Swiss-Prot : 76 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, Familial Hypertrophic, 10, is also known as cmh10, and has symptoms including dyspnea, chest pain and dizziness. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 10 is MYL2 (Myosin Light Chain 2). Affiliated tissues include heart and skeletal muscle, and related phenotypes are sudden cardiac death and supraventricular tachycardia

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

Description from OMIM: 608758

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 10

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 10:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 33 occasional (7.5%) HP:0001645
2 supraventricular tachycardia 33 occasional (7.5%) HP:0004755
3 ventricular fibrillation 33 occasional (7.5%) HP:0001663
4 dyspnea 33 HP:0002094
5 left ventricular hypertrophy 33 HP:0001712
6 vertigo 33 HP:0002321
7 chest pain 33 HP:0100749
8 ventricular tachycardia 33 HP:0004756
9 palpitations 33 HP:0001962
10 t-wave inversion 33 HP:0010872
11 asymmetric septal hypertrophy 33 HP:0001670
12 ventricular septal hypertrophy 33 HP:0005144

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
dyspnea

Neurologic Central Nervous System:
dizziness

Cardiovascular Heart:
chest pain
palpitations
ventricular fibrillation (in some patients)
asymmetric septal hypertrophy
supraventricular tachycardia (in some patients)
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)

Clinical features from OMIM:

608758

UMLS symptoms related to Cardiomyopathy, Familial Hypertrophic, 10:


dyspnea, chest pain, dizziness

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 10

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 10

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 10

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 10:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 10 30 MYL2

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 10

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

42
Heart, Skeletal Muscle

Publications for Cardiomyopathy, Familial Hypertrophic, 10

Articles related to Cardiomyopathy, Familial Hypertrophic, 10:

# Title Authors Year
1
A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder. ( 28223422 )
2017
2
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
3
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
4
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
5
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ( 21267010 )
2011
6
Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. ( 12404107 )
2002
7
Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. ( 9535554 )
1998
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

Variations for Cardiomyopathy, Familial Hypertrophic, 10

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

76
# Symbol AA change Variation ID SNP ID
1 MYL2 p.Ala13Thr VAR_004601 rs104894363
2 MYL2 p.Phe18Leu VAR_004602 rs104894370
3 MYL2 p.Glu22Lys VAR_004603 rs104894368
4 MYL2 p.Arg58Gln VAR_004604 rs104894369
5 MYL2 p.Pro95Ala VAR_004605 rs121913658
6 MYL2 p.Asp166Val VAR_019844 rs199474815

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 10:

6 (show top 50) (show all 157)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYL2 NM_000432.3(MYL2): c.37G> A (p.Ala13Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894363 GRCh37 Chromosome 12, 111356964: 111356964
2 MYL2 NM_000432.3(MYL2): c.37G> A (p.Ala13Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894363 GRCh38 Chromosome 12, 110919160: 110919160
3 MYL2 NM_000432.3(MYL2): c.37G> A (p.Ala13Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894363 NCBI36 Chromosome 12, 109841347: 109841347
4 MYL2 NM_000432.3(MYL2): c.64G> A (p.Glu22Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894368 GRCh37 Chromosome 12, 111356937: 111356937
5 MYL2 NM_000432.3(MYL2): c.64G> A (p.Glu22Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894368 GRCh38 Chromosome 12, 110919133: 110919133
6 MYL2 NM_000432.3(MYL2): c.283C> G (p.Pro95Ala) single nucleotide variant Pathogenic rs121913658 GRCh37 Chromosome 12, 111351120: 111351120
7 MYL2 NM_000432.3(MYL2): c.283C> G (p.Pro95Ala) single nucleotide variant Pathogenic rs121913658 GRCh38 Chromosome 12, 110913316: 110913316
8 MYL2 NM_000432.3(MYL2): c.173G> A (p.Arg58Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894369 GRCh37 Chromosome 12, 111352091: 111352091
9 MYL2 NM_000432.3(MYL2): c.173G> A (p.Arg58Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894369 GRCh38 Chromosome 12, 110914287: 110914287
10 MYL2 NM_000432.3(MYL2): c.52T> C (p.Phe18Leu) single nucleotide variant Likely pathogenic rs104894370 GRCh37 Chromosome 12, 111356949: 111356949
11 MYL2 NM_000432.3(MYL2): c.52T> C (p.Phe18Leu) single nucleotide variant Likely pathogenic rs104894370 GRCh38 Chromosome 12, 110919145: 110919145
12 MYL2 NM_000432.3(MYL2): c.141C> A (p.Asn47Lys) single nucleotide variant Uncertain significance rs199474808 GRCh37 Chromosome 12, 111353547: 111353547
13 MYL2 NM_000432.3(MYL2): c.141C> A (p.Asn47Lys) single nucleotide variant Uncertain significance rs199474808 GRCh38 Chromosome 12, 110915743: 110915743
14 MYL2 NM_000432.3(MYL2): c.403-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs199474813 GRCh37 Chromosome 12, 111348980: 111348980
15 MYL2 NM_000432.3(MYL2): c.403-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs199474813 GRCh38 Chromosome 12, 110911176: 110911176
16 MYL2 NM_000432.3(MYL2): c.132T> C (p.Ile44=) single nucleotide variant Benign/Likely benign rs2301610 GRCh37 Chromosome 12, 111353556: 111353556
17 MYL2 NM_000432.3(MYL2): c.132T> C (p.Ile44=) single nucleotide variant Benign/Likely benign rs2301610 GRCh38 Chromosome 12, 110915752: 110915752
18 MYL2 NM_000432.3(MYL2): c.353+20delG deletion Benign rs3833910 GRCh37 Chromosome 12, 111351030: 111351030
19 MYL2 NM_000432.3(MYL2): c.353+20delG deletion Benign rs3833910 GRCh38 Chromosome 12, 110913226: 110913226
20 MYL2 NM_000432.3(MYL2): c.170-19T> C single nucleotide variant Conflicting interpretations of pathogenicity rs115522476 GRCh37 Chromosome 12, 111352113: 111352113
21 MYL2 NM_000432.3(MYL2): c.170-19T> C single nucleotide variant Conflicting interpretations of pathogenicity rs115522476 GRCh38 Chromosome 12, 110914309: 110914309
22 MYL2 NM_000432.3(MYL2): c.359G> A (p.Arg120Gln) single nucleotide variant Uncertain significance rs192057022 GRCh37 Chromosome 12, 111350943: 111350943
23 MYL2 NM_000432.3(MYL2): c.359G> A (p.Arg120Gln) single nucleotide variant Uncertain significance rs192057022 GRCh38 Chromosome 12, 110913139: 110913139
24 MYL2 NM_000432.3(MYL2): c.381G> A (p.Ala127=) single nucleotide variant Benign rs2233261 GRCh37 Chromosome 12, 111350921: 111350921
25 MYL2 NM_000432.3(MYL2): c.381G> A (p.Ala127=) single nucleotide variant Benign rs2233261 GRCh38 Chromosome 12, 110913117: 110913117
26 MYL2 NM_000432.3(MYL2): c.141C> T (p.Asn47=) single nucleotide variant Likely benign rs199474808 GRCh37 Chromosome 12, 111353547: 111353547
27 MYL2 NM_000432.3(MYL2): c.141C> T (p.Asn47=) single nucleotide variant Likely benign rs199474808 GRCh38 Chromosome 12, 110915743: 110915743
28 MYL2 NM_000432.3(MYL2): c.243G> T (p.Val81=) single nucleotide variant Benign/Likely benign rs368851472 GRCh37 Chromosome 12, 111352021: 111352021
29 MYL2 NM_000432.3(MYL2): c.243G> T (p.Val81=) single nucleotide variant Benign/Likely benign rs368851472 GRCh38 Chromosome 12, 110914217: 110914217
30 MYL2 NM_000432.3(MYL2): c.274+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs371405579 GRCh37 Chromosome 12, 111351981: 111351981
31 MYL2 NM_000432.3(MYL2): c.274+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs371405579 GRCh38 Chromosome 12, 110914177: 110914177
32 MYL2 NM_000432.3(MYL2): c.33G> A (p.Gly11=) single nucleotide variant Benign/Likely benign rs199742269 GRCh37 Chromosome 12, 111356968: 111356968
33 MYL2 NM_000432.3(MYL2): c.33G> A (p.Gly11=) single nucleotide variant Benign/Likely benign rs199742269 GRCh38 Chromosome 12, 110919164: 110919164
34 MYL2 NM_000432.3(MYL2): c.342G> A (p.Leu114=) single nucleotide variant Benign/Likely benign rs199572927 GRCh37 Chromosome 12, 111351061: 111351061
35 MYL2 NM_000432.3(MYL2): c.342G> A (p.Leu114=) single nucleotide variant Benign/Likely benign rs199572927 GRCh38 Chromosome 12, 110913257: 110913257
36 MYL2 NM_000432.3(MYL2): c.36C> T (p.Gly12=) single nucleotide variant Benign/Likely benign rs139794370 GRCh37 Chromosome 12, 111356965: 111356965
37 MYL2 NM_000432.3(MYL2): c.36C> T (p.Gly12=) single nucleotide variant Benign/Likely benign rs139794370 GRCh38 Chromosome 12, 110919161: 110919161
38 MYL2 NM_000432.3(MYL2): c.4-14C> T single nucleotide variant Benign/Likely benign rs12301951 GRCh37 Chromosome 12, 111357011: 111357011
39 MYL2 NM_000432.3(MYL2): c.4-14C> T single nucleotide variant Benign/Likely benign rs12301951 GRCh38 Chromosome 12, 110919207: 110919207
40 MYL2 NM_000432.3(MYL2): c.401A> C (p.Glu134Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143139258 GRCh37 Chromosome 12, 111350901: 111350901
41 MYL2 NM_000432.3(MYL2): c.401A> C (p.Glu134Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143139258 GRCh38 Chromosome 12, 110913097: 110913097
42 MYL2 NM_000432.3(MYL2): c.429C> G (p.Pro143=) single nucleotide variant Likely benign rs374328118 GRCh37 Chromosome 12, 111348953: 111348953
43 MYL2 NM_000432.3(MYL2): c.429C> G (p.Pro143=) single nucleotide variant Likely benign rs374328118 GRCh38 Chromosome 12, 110911149: 110911149
44 MYL2 NM_000432.3(MYL2): c.447C> T (p.Asn149=) single nucleotide variant Likely benign rs397516405 GRCh37 Chromosome 12, 111348935: 111348935
45 MYL2 NM_000432.3(MYL2): c.447C> T (p.Asn149=) single nucleotide variant Likely benign rs397516405 GRCh38 Chromosome 12, 110911131: 110911131
46 MYL2 NM_000432.3(MYL2): c.459G> C (p.Lys153Asn) single nucleotide variant Uncertain significance rs149078011 GRCh37 Chromosome 12, 111348923: 111348923
47 MYL2 NM_000432.3(MYL2): c.459G> C (p.Lys153Asn) single nucleotide variant Uncertain significance rs149078011 GRCh38 Chromosome 12, 110911119: 110911119
48 MYL2 NM_000432.3(MYL2): c.488A> C (p.Glu163Ala) single nucleotide variant Likely pathogenic rs397516407 GRCh37 Chromosome 12, 111348894: 111348894
49 MYL2 NM_000432.3(MYL2): c.488A> C (p.Glu163Ala) single nucleotide variant Likely pathogenic rs397516407 GRCh38 Chromosome 12, 110911090: 110911090
50 MYL2 NM_000432.3(MYL2): c.484G> A (p.Gly162Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199474814 GRCh37 Chromosome 12, 111348898: 111348898

Expression for Cardiomyopathy, Familial Hypertrophic, 10

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

Pathways for Cardiomyopathy, Familial Hypertrophic, 10

GO Terms for Cardiomyopathy, Familial Hypertrophic, 10

Sources for Cardiomyopathy, Familial Hypertrophic, 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
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
Content
Loading form....