CMH10
MCID: CRD087
MIFTS: 22

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 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

Publications for Cardiomyopathy, Familial Hypertrophic, 10

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 155)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYL2 NM_000432.3(MYL2): c.421G> A (p.Ala141Thr) single nucleotide variant Uncertain significance rs727504559 GRCh38 Chromosome 12, 110911157: 110911157
2 MYL2 NM_000432.3(MYL2): c.421G> A (p.Ala141Thr) single nucleotide variant Uncertain significance rs727504559 GRCh37 Chromosome 12, 111348961: 111348961
3 MYL2 NM_000432.3(MYL2): c.184A> T (p.Lys62Ter) single nucleotide variant Uncertain significance rs201728041 GRCh37 Chromosome 12, 111352080: 111352080
4 MYL2 NM_000432.3(MYL2): c.184A> T (p.Lys62Ter) single nucleotide variant Uncertain significance rs201728041 GRCh38 Chromosome 12, 110914276: 110914276
5 MYL2 NM_000432.3(MYL2): c.119G> A (p.Arg40Lys) single nucleotide variant Uncertain significance rs727503299 GRCh37 Chromosome 12, 111353569: 111353569
6 MYL2 NM_000432.3(MYL2): c.119G> A (p.Arg40Lys) single nucleotide variant Uncertain significance rs727503299 GRCh38 Chromosome 12, 110915765: 110915765
7 MYL2 NM_000432.3(MYL2): c.119G> T (p.Arg40Met) single nucleotide variant Uncertain significance rs727503299 GRCh38 Chromosome 12, 110915765: 110915765
8 MYL2 NM_000432.3(MYL2): c.119G> T (p.Arg40Met) single nucleotide variant Uncertain significance rs727503299 GRCh37 Chromosome 12, 111353569: 111353569
9 MYL2 NM_000432.3(MYL2): c.45_46delCAinsT (p.Asn16Thrfs) indel Uncertain significance rs727504300 GRCh37 Chromosome 12, 111356955: 111356956
10 MYL2 NM_000432.3(MYL2): c.45_46delCAinsT (p.Asn16Thrfs) indel Uncertain significance rs727504300 GRCh38 Chromosome 12, 110919151: 110919152
11 MYL2 NM_000432.3(MYL2): c.308T> G (p.Phe103Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs547860537 GRCh37 Chromosome 12, 111351095: 111351095
12 MYL2 NM_000432.3(MYL2): c.308T> G (p.Phe103Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs547860537 GRCh38 Chromosome 12, 110913291: 110913291
13 MYL2 NM_000432.3(MYL2): c.274+16_274+17insCT insertion Benign rs200007468 GRCh37 Chromosome 12, 111351973: 111351974
14 MYL2 NM_000432.3(MYL2): c.274+16_274+17insCT insertion Benign rs200007468 GRCh38 Chromosome 12, 110914169: 110914170
15 MYL2 NM_000432.3(MYL2): c.97T> C (p.Phe33Leu) single nucleotide variant Uncertain significance rs730880945 GRCh37 Chromosome 12, 111353591: 111353591
16 MYL2 NM_000432.3(MYL2): c.97T> C (p.Phe33Leu) single nucleotide variant Uncertain significance rs730880945 GRCh38 Chromosome 12, 110915787: 110915787
17 MYL2 NM_000432.3(MYL2): c.49G> A (p.Val17Met) single nucleotide variant Uncertain significance rs730880943 GRCh37 Chromosome 12, 111356952: 111356952
18 MYL2 NM_000432.3(MYL2): c.49G> A (p.Val17Met) single nucleotide variant Uncertain significance rs730880943 GRCh38 Chromosome 12, 110919148: 110919148
19 MYL2 NM_000432.3(MYL2): c.125G> A (p.Gly42Asp) single nucleotide variant Likely pathogenic rs863225117 GRCh38 Chromosome 12, 110915759: 110915759
20 MYL2 NM_000432.3(MYL2): c.125G> A (p.Gly42Asp) single nucleotide variant Likely pathogenic rs863225117 GRCh37 Chromosome 12, 111353563: 111353563
21 MYL2 NM_000432.3(MYL2): c.353+6T> A single nucleotide variant Uncertain significance rs372824804 GRCh37 Chromosome 12, 111351044: 111351044
22 MYL2 NM_000432.3(MYL2): c.353+6T> A single nucleotide variant Uncertain significance rs372824804 GRCh38 Chromosome 12, 110913240: 110913240
23 MYL2 NM_000432.3(MYL2): c.403-4G> C single nucleotide variant Likely benign rs200888544 GRCh38 Chromosome 12, 110911179: 110911179
24 MYL2 NM_000432.3(MYL2): c.403-4G> C single nucleotide variant Likely benign rs200888544 GRCh37 Chromosome 12, 111348983: 111348983
25 MYL2 NM_000432.3(MYL2): c.37G> A (p.Ala13Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894363 GRCh37 Chromosome 12, 111356964: 111356964
26 MYL2 NM_000432.3(MYL2): c.37G> A (p.Ala13Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894363 GRCh38 Chromosome 12, 110919160: 110919160
27 MYL2 NM_000432.3(MYL2): c.37G> A (p.Ala13Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894363 NCBI36 Chromosome 12, 109841347: 109841347
28 MYL2 NM_000432.3(MYL2): c.64G> A (p.Glu22Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894368 GRCh37 Chromosome 12, 111356937: 111356937
29 MYL2 NM_000432.3(MYL2): c.64G> A (p.Glu22Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894368 GRCh38 Chromosome 12, 110919133: 110919133
30 MYL2 NM_000432.3(MYL2): c.283C> G (p.Pro95Ala) single nucleotide variant Pathogenic rs121913658 GRCh37 Chromosome 12, 111351120: 111351120
31 MYL2 NM_000432.3(MYL2): c.283C> G (p.Pro95Ala) single nucleotide variant Pathogenic rs121913658 GRCh38 Chromosome 12, 110913316: 110913316
32 MYL2 NM_000432.3(MYL2): c.173G> A (p.Arg58Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894369 GRCh37 Chromosome 12, 111352091: 111352091
33 MYL2 NM_000432.3(MYL2): c.173G> A (p.Arg58Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894369 GRCh38 Chromosome 12, 110914287: 110914287
34 MYL2 NM_000432.3(MYL2): c.52T> C (p.Phe18Leu) single nucleotide variant Likely pathogenic rs104894370 GRCh37 Chromosome 12, 111356949: 111356949
35 MYL2 NM_000432.3(MYL2): c.52T> C (p.Phe18Leu) single nucleotide variant Likely pathogenic rs104894370 GRCh38 Chromosome 12, 110919145: 110919145
36 MYL2 NM_000432.3(MYL2): c.141C> A (p.Asn47Lys) single nucleotide variant Uncertain significance rs199474808 GRCh37 Chromosome 12, 111353547: 111353547
37 MYL2 NM_000432.3(MYL2): c.141C> A (p.Asn47Lys) single nucleotide variant Uncertain significance rs199474808 GRCh38 Chromosome 12, 110915743: 110915743
38 MYL2 NM_000432.3(MYL2): c.403-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs199474813 GRCh37 Chromosome 12, 111348980: 111348980
39 MYL2 NM_000432.3(MYL2): c.403-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs199474813 GRCh38 Chromosome 12, 110911176: 110911176
40 MYL2 NM_000432.3(MYL2): c.132T> C (p.Ile44=) single nucleotide variant Benign/Likely benign rs2301610 GRCh37 Chromosome 12, 111353556: 111353556
41 MYL2 NM_000432.3(MYL2): c.132T> C (p.Ile44=) single nucleotide variant Benign/Likely benign rs2301610 GRCh38 Chromosome 12, 110915752: 110915752
42 MYL2 NM_000432.3(MYL2): c.353+20delG deletion Benign rs3833910 GRCh37 Chromosome 12, 111351030: 111351030
43 MYL2 NM_000432.3(MYL2): c.353+20delG deletion Benign rs3833910 GRCh38 Chromosome 12, 110913226: 110913226
44 MYL2 NM_000432.3(MYL2): c.170-19T> C single nucleotide variant Conflicting interpretations of pathogenicity rs115522476 GRCh37 Chromosome 12, 111352113: 111352113
45 MYL2 NM_000432.3(MYL2): c.170-19T> C single nucleotide variant Conflicting interpretations of pathogenicity rs115522476 GRCh38 Chromosome 12, 110914309: 110914309
46 MYL2 NM_000432.3(MYL2): c.359G> A (p.Arg120Gln) single nucleotide variant Uncertain significance rs192057022 GRCh37 Chromosome 12, 111350943: 111350943
47 MYL2 NM_000432.3(MYL2): c.359G> A (p.Arg120Gln) single nucleotide variant Uncertain significance rs192057022 GRCh38 Chromosome 12, 110913139: 110913139
48 MYL2 NM_000432.3(MYL2): c.381G> A (p.Ala127=) single nucleotide variant Benign rs2233261 GRCh37 Chromosome 12, 111350921: 111350921
49 MYL2 NM_000432.3(MYL2): c.381G> A (p.Ala127=) single nucleotide variant Benign rs2233261 GRCh38 Chromosome 12, 110913117: 110913117
50 MYL2 NM_000432.3(MYL2): c.141C> T (p.Asn47=) single nucleotide variant Likely benign rs199474808 GRCh37 Chromosome 12, 111353547: 111353547

Expression for Cardiomyopathy, Familial Hypertrophic, 10

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GO Terms for Cardiomyopathy, Familial Hypertrophic, 10

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