MCID: CRD087
MIFTS: 22

Cardiomyopathy, Familial Hypertrophic, 10

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 10

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 10:

Name: Cardiomyopathy, Familial Hypertrophic, 10 57 12 13 73
Cmh10 57 12 75
Familial Hypertrophic Cardiomyopathy 10 29 6
Familial Hypertrophic Cardiomyopathy with Mid-Left Ventricular Chamber Type 2 75
Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 2 57
Cardiomyopathy, Hypertrophic, Familial, Type 10 40
Cardiomyopathy, Familial Hypertrophic 10 75
Cardiomyopathy, Hypertrophic, 10 57
Hypertrophic Cardiomyopathy 10 12
Mvc2 75

Characteristics:

OMIM:

57
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:

32
cardiomyopathy, familial hypertrophic, 10:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Familial Hypertrophic, 10

UniProtKB/Swiss-Prot : 75 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 chest pain, dizziness and dyspnea. 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 dyspnea

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

Description from OMIM: 608758

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 10

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 10:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 occasional (7.5%) HP:0001645
2 dyspnea 32 HP:0002094
3 vertigo 32 HP:0002321
4 chest pain 32 HP:0100749
5 ventricular tachycardia 32 HP:0004756
6 ventricular fibrillation 32 occasional (7.5%) HP:0001663
7 palpitations 32 HP:0001962
8 left ventricular septal hypertrophy 32 HP:0005144
9 asymmetric septal hypertrophy 32 HP:0001670
10 supraventricular tachycardia 32 occasional (7.5%) HP:0004755

UMLS symptoms related to Cardiomyopathy, Familial Hypertrophic, 10:


chest pain, dizziness, dyspnea

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 29 MYL2

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 10

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

41
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 10

Variations for Cardiomyopathy, Familial Hypertrophic, 10

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

75
# 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 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYL2 NM_000432.3(MYL2): c.64G> A (p.Glu22Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894368 GRCh37 Chromosome 12, 111356937: 111356937
2 MYL2 NM_000432.3(MYL2): c.64G> A (p.Glu22Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894368 GRCh38 Chromosome 12, 110919133: 110919133
3 MYL2 NM_000432.3(MYL2): c.283C> G (p.Pro95Ala) single nucleotide variant Pathogenic rs121913658 GRCh37 Chromosome 12, 111351120: 111351120
4 MYL2 NM_000432.3(MYL2): c.283C> G (p.Pro95Ala) single nucleotide variant Pathogenic rs121913658 GRCh38 Chromosome 12, 110913316: 110913316
5 MYL2 NM_000432.3(MYL2): c.173G> A (p.Arg58Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894369 GRCh37 Chromosome 12, 111352091: 111352091
6 MYL2 NM_000432.3(MYL2): c.173G> A (p.Arg58Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894369 GRCh38 Chromosome 12, 110914287: 110914287
7 MYL2 NM_000432.3(MYL2): c.52T> C (p.Phe18Leu) single nucleotide variant Likely pathogenic rs104894370 GRCh37 Chromosome 12, 111356949: 111356949
8 MYL2 NM_000432.3(MYL2): c.52T> C (p.Phe18Leu) single nucleotide variant Likely pathogenic rs104894370 GRCh38 Chromosome 12, 110919145: 110919145
9 MYL2 NM_000432.3(MYL2): c.403-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs199474813 GRCh37 Chromosome 12, 111348980: 111348980
10 MYL2 NM_000432.3(MYL2): c.403-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs199474813 GRCh38 Chromosome 12, 110911176: 110911176
11 MYL2 NM_000432.3(MYL2): c.488A> C (p.Glu163Ala) single nucleotide variant Likely pathogenic rs397516407 GRCh37 Chromosome 12, 111348894: 111348894
12 MYL2 NM_000432.3(MYL2): c.488A> C (p.Glu163Ala) single nucleotide variant Likely pathogenic rs397516407 GRCh38 Chromosome 12, 110911090: 110911090
13 MYL2 NM_000432.3(MYL2): c.239C> A (p.Thr80Asn) single nucleotide variant Pathogenic/Likely pathogenic rs587782965 GRCh37 Chromosome 12, 111352025: 111352025
14 MYL2 NM_000432.3(MYL2): c.239C> A (p.Thr80Asn) single nucleotide variant Pathogenic/Likely pathogenic rs587782965 GRCh38 Chromosome 12, 110914221: 110914221
15 MYL2 NM_000432.3(MYL2): c.421G> A (p.Ala141Thr) single nucleotide variant Uncertain significance rs727504559 GRCh37 Chromosome 12, 111348961: 111348961
16 MYL2 NM_000432.3(MYL2): c.421G> A (p.Ala141Thr) single nucleotide variant Uncertain significance rs727504559 GRCh38 Chromosome 12, 110911157: 110911157
17 MYL2 NM_000432.3(MYL2): c.184A> T (p.Lys62Ter) single nucleotide variant Uncertain significance rs201728041 GRCh37 Chromosome 12, 111352080: 111352080
18 MYL2 NM_000432.3(MYL2): c.184A> T (p.Lys62Ter) single nucleotide variant Uncertain significance rs201728041 GRCh38 Chromosome 12, 110914276: 110914276
19 MYL2 NM_000432.3(MYL2): c.119G> A (p.Arg40Lys) single nucleotide variant Uncertain significance rs727503299 GRCh37 Chromosome 12, 111353569: 111353569
20 MYL2 NM_000432.3(MYL2): c.119G> A (p.Arg40Lys) single nucleotide variant Uncertain significance rs727503299 GRCh38 Chromosome 12, 110915765: 110915765
21 MYL2 NM_000432.3(MYL2): c.119G> T (p.Arg40Met) single nucleotide variant Uncertain significance rs727503299 GRCh37 Chromosome 12, 111353569: 111353569
22 MYL2 NM_000432.3(MYL2): c.119G> T (p.Arg40Met) single nucleotide variant Uncertain significance rs727503299 GRCh38 Chromosome 12, 110915765: 110915765
23 MYL2 NM_000432.3(MYL2): c.308T> G (p.Phe103Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs547860537 GRCh37 Chromosome 12, 111351095: 111351095
24 MYL2 NM_000432.3(MYL2): c.308T> G (p.Phe103Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs547860537 GRCh38 Chromosome 12, 110913291: 110913291
25 MYL2 NM_000432.3(MYL2): c.274+16_274+17insCT insertion Benign rs200007468 GRCh37 Chromosome 12, 111351973: 111351974
26 MYL2 NM_000432.3(MYL2): c.274+16_274+17insCT insertion Benign rs200007468 GRCh38 Chromosome 12, 110914169: 110914170
27 MYL2 NM_000432.3(MYL2): c.97T> C (p.Phe33Leu) single nucleotide variant Uncertain significance rs730880945 GRCh37 Chromosome 12, 111353591: 111353591
28 MYL2 NM_000432.3(MYL2): c.97T> C (p.Phe33Leu) single nucleotide variant Uncertain significance rs730880945 GRCh38 Chromosome 12, 110915787: 110915787
29 MYL2 NM_000432.3(MYL2): c.49G> A (p.Val17Met) single nucleotide variant Uncertain significance rs730880943 GRCh37 Chromosome 12, 111356952: 111356952
30 MYL2 NM_000432.3(MYL2): c.49G> A (p.Val17Met) single nucleotide variant Uncertain significance rs730880943 GRCh38 Chromosome 12, 110919148: 110919148
31 MYL2 NM_000432.3(MYL2): c.125G> A (p.Gly42Asp) single nucleotide variant Likely pathogenic rs863225117 GRCh38 Chromosome 12, 110915759: 110915759
32 MYL2 NM_000432.3(MYL2): c.125G> A (p.Gly42Asp) single nucleotide variant Likely pathogenic rs863225117 GRCh37 Chromosome 12, 111353563: 111353563
33 MYL2 NM_000432.3(MYL2): c.353+6T> A single nucleotide variant Uncertain significance rs372824804 GRCh37 Chromosome 12, 111351044: 111351044
34 MYL2 NM_000432.3(MYL2): c.353+6T> A single nucleotide variant Uncertain significance rs372824804 GRCh38 Chromosome 12, 110913240: 110913240
35 MYL2 NM_000432.3(MYL2): c.403-4G> C single nucleotide variant Likely benign rs200888544 GRCh38 Chromosome 12, 110911179: 110911179
36 MYL2 NM_000432.3(MYL2): c.403-4G> C single nucleotide variant Likely benign rs200888544 GRCh37 Chromosome 12, 111348983: 111348983
37 MYL2 NM_000432.3(MYL2): c.402+6G> C single nucleotide variant Uncertain significance rs749765328 GRCh38 Chromosome 12, 110913090: 110913090
38 MYL2 NM_000432.3(MYL2): c.402+6G> C single nucleotide variant Uncertain significance rs749765328 GRCh37 Chromosome 12, 111350894: 111350894
39 MYL2 NM_000432.3(MYL2): c.42C> T (p.Asn14=) single nucleotide variant Likely benign rs878853980 GRCh37 Chromosome 12, 111356959: 111356959
40 MYL2 NM_000432.3(MYL2): c.42C> T (p.Asn14=) single nucleotide variant Likely benign rs878853980 GRCh38 Chromosome 12, 110919155: 110919155
41 MYL2 NM_000432.3(MYL2): c.456C> T (p.Tyr152=) single nucleotide variant Benign/Likely benign rs199815885 GRCh38 Chromosome 12, 110911122: 110911122
42 MYL2 NM_000432.3(MYL2): c.456C> T (p.Tyr152=) single nucleotide variant Benign/Likely benign rs199815885 GRCh37 Chromosome 12, 111348926: 111348926
43 MYL2 NM_000432.3(MYL2): c.3+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs201763406 GRCh37 Chromosome 12, 111358322: 111358322
44 MYL2 NM_000432.3(MYL2): c.3+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs201763406 GRCh38 Chromosome 12, 110920518: 110920518
45 MYL2 NM_000432.3(MYL2): c.222G> A (p.Pro74=) single nucleotide variant Likely benign rs372644111 GRCh37 Chromosome 12, 111352042: 111352042
46 MYL2 NM_000432.3(MYL2): c.222G> A (p.Pro74=) single nucleotide variant Likely benign rs372644111 GRCh38 Chromosome 12, 110914238: 110914238
47 MYL2 NM_000432.3(MYL2): c.275-7G> A single nucleotide variant Benign rs373241541 GRCh37 Chromosome 12, 111351135: 111351135
48 MYL2 NM_000432.3(MYL2): c.275-7G> A single nucleotide variant Benign rs373241541 GRCh38 Chromosome 12, 110913331: 110913331
49 MYL2 NC_000012.12: g.(?_110910819)_(110911175_?)del deletion Pathogenic GRCh37 Chromosome 12, 111348623: 111348979
50 MYL2 NC_000012.12: g.(?_110910819)_(110911175_?)del deletion Pathogenic GRCh38 Chromosome 12, 110910819: 110911175

Expression for Cardiomyopathy, Familial Hypertrophic, 10

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Pathways for Cardiomyopathy, Familial Hypertrophic, 10

GO Terms for Cardiomyopathy, Familial Hypertrophic, 10

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