CMH14
MCID: CRD089
MIFTS: 19

Cardiomyopathy, Familial Hypertrophic, 14 (CMH14)

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

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 14

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 14:

Name: Cardiomyopathy, Familial Hypertrophic, 14 57 13 73
Cmh14 57 12 75
Familial Hypertrophic Cardiomyopathy 14 29 6
Cardiomyopathy, Hypertrophic, Familial, Type 14 40
Cardiomyopathy, Familial Hypertrophic 14 75
Cardiomyopathy Familial Hypertrophic 14 12
Cardiomyopathy, Hypertrophic, 14 57
Hypertrophic Cardiomyopathy 14 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable age of onset from third to eighth decade of life


HPO:

32
cardiomyopathy, familial hypertrophic, 14:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613251
Disease Ontology 12 DOID:0110320
MedGen 42 C2750467
MeSH 44 D024741
SNOMED-CT via HPO 69 263681008 233873004 45227007
UMLS 73 C2750467

Summaries for Cardiomyopathy, Familial Hypertrophic, 14

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, familial hypertrophic 14: 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.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 14, is also known as cmh14. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 14 is MYH6 (Myosin Heavy Chain 6). The drugs leucovorin and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotype is hypertrophic cardiomyopathy.

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in mutation in the MYH6 gene.

Description from OMIM: 613251

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 14

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
decreased left ventricular ejection fraction
increased left ventricular wall thickness
decreased left ventricular fractional shortening
ventricular outflow obstruction
progression to cardiac dilation
more

Clinical features from OMIM:

613251

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 14:

32
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 32 HP:0001639

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 14

Drugs for Cardiomyopathy, Familial Hypertrophic, 14 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Not Applicable 58-05-9 6006 143
2
Methotrexate Approved Not Applicable 59-05-2, 1959-05-2 126941
3
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
4 Nucleic Acid Synthesis Inhibitors Not Applicable
5 Immunosuppressive Agents Not Applicable
6 Immunologic Factors Not Applicable
7 Vitamin B Complex Not Applicable
8 Vitamin B9 Not Applicable
9 Dermatologic Agents Not Applicable
10 Antimetabolites, Antineoplastic Not Applicable
11 Folic Acid Antagonists Not Applicable
12 Antirheumatic Agents Not Applicable
13 Antimetabolites Not Applicable
14 Folate Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prediction of Excretion and Toxicity of High Dose Methotrexate in Children and Adolescents With ALL Active, not recruiting NCT02133599 Not Applicable IOHEXOL

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 14

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 14

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 14:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 14 29 MYH6

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 14

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 14:

41
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 14

Variations for Cardiomyopathy, Familial Hypertrophic, 14

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 14:

75
# Symbol AA change Variation ID SNP ID
1 MYH6 p.Arg795Gln VAR_031882 rs267606907
2 MYH6 p.Gln1065His VAR_063554 rs267606904

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 14:

6 (show top 50) (show all 666)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH6 NM_002471.3(MYH6): c.2384G> A (p.Arg795Gln) single nucleotide variant Pathogenic rs267606907 GRCh37 Chromosome 14, 23865538: 23865538
2 MYH6 NM_002471.3(MYH6): c.2384G> A (p.Arg795Gln) single nucleotide variant Pathogenic rs267606907 GRCh38 Chromosome 14, 23396329: 23396329
3 MYH6 NM_002471.3(MYH6): c.3195G> C (p.Gln1065His) single nucleotide variant Conflicting interpretations of pathogenicity rs267606904 GRCh37 Chromosome 14, 23862177: 23862177
4 MYH6 NM_002471.3(MYH6): c.3195G> C (p.Gln1065His) single nucleotide variant Conflicting interpretations of pathogenicity rs267606904 GRCh38 Chromosome 14, 23392968: 23392968
5 MYH6 NM_002471.3(MYH6): c.3195G> C (p.Gln1065His) single nucleotide variant Conflicting interpretations of pathogenicity rs267606904 NCBI36 Chromosome 14, 22932017: 22932017
6 MYH6 NM_002471.3(MYH6): c.3010G> T (p.Ala1004Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143978652 GRCh37 Chromosome 14, 23862646: 23862646
7 MYH6 NM_002471.3(MYH6): c.3010G> T (p.Ala1004Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143978652 GRCh38 Chromosome 14, 23393437: 23393437
8 MYH6 NM_002471.3(MYH6): c.1753G> A (p.Gly585Ser) single nucleotide variant Uncertain significance rs150415679 GRCh37 Chromosome 14, 23868075: 23868075
9 MYH6 NM_002471.3(MYH6): c.1753G> A (p.Gly585Ser) single nucleotide variant Uncertain significance rs150415679 GRCh38 Chromosome 14, 23398866: 23398866
10 MYH6 NM_002471.3(MYH6): c.3979-8delC deletion Conflicting interpretations of pathogenicity rs193922652 GRCh37 Chromosome 14, 23858272: 23858272
11 MYH6 NM_002471.3(MYH6): c.3979-8delC deletion Conflicting interpretations of pathogenicity rs193922652 GRCh38 Chromosome 14, 23389063: 23389063
12 MYH6 NM_002471.3(MYH6): c.4401T> G (p.Ser1467=) single nucleotide variant Likely benign rs150081280 GRCh37 Chromosome 14, 23857091: 23857091
13 MYH6 NM_002471.3(MYH6): c.4401T> G (p.Ser1467=) single nucleotide variant Likely benign rs150081280 GRCh38 Chromosome 14, 23387882: 23387882
14 MYH6 NM_002471.3(MYH6): c.999C> T (p.Thr333=) single nucleotide variant Benign/Likely benign rs78107039 GRCh37 Chromosome 14, 23871909: 23871909
15 MYH6 NM_002471.3(MYH6): c.999C> T (p.Thr333=) single nucleotide variant Benign/Likely benign rs78107039 GRCh38 Chromosome 14, 23402700: 23402700
16 MYH6 NM_002471.3(MYH6): c.1071C> T (p.Ile357=) single nucleotide variant Conflicting interpretations of pathogenicity rs58131640 GRCh37 Chromosome 14, 23871743: 23871743
17 MYH6 NM_002471.3(MYH6): c.1071C> T (p.Ile357=) single nucleotide variant Conflicting interpretations of pathogenicity rs58131640 GRCh38 Chromosome 14, 23402534: 23402534
18 MYH6 NM_002471.3(MYH6): c.1131C> G (p.Asp377Glu) single nucleotide variant Benign/Likely benign rs61742472 GRCh37 Chromosome 14, 23871683: 23871683
19 MYH6 NM_002471.3(MYH6): c.1131C> G (p.Asp377Glu) single nucleotide variant Benign/Likely benign rs61742472 GRCh38 Chromosome 14, 23402474: 23402474
20 MYH6 NM_002471.3(MYH6): c.1252G> A (p.Val418Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147606900 GRCh37 Chromosome 14, 23870076: 23870076
21 MYH6 NM_002471.3(MYH6): c.1252G> A (p.Val418Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147606900 GRCh38 Chromosome 14, 23400867: 23400867
22 MYH6 NM_002471.3(MYH6): c.1275C> T (p.Ile425=) single nucleotide variant Benign/Likely benign rs61742470 GRCh37 Chromosome 14, 23870053: 23870053
23 MYH6 NM_002471.3(MYH6): c.1275C> T (p.Ile425=) single nucleotide variant Benign/Likely benign rs61742470 GRCh38 Chromosome 14, 23400844: 23400844
24 MYH6 NM_002471.3(MYH6): c.1449C> T (p.Asn483=) single nucleotide variant Benign rs145447555 GRCh37 Chromosome 14, 23869597: 23869597
25 MYH6 NM_002471.3(MYH6): c.1449C> T (p.Asn483=) single nucleotide variant Benign rs145447555 GRCh38 Chromosome 14, 23400388: 23400388
26 MYH6 NM_002471.3(MYH6): c.1875C> T (p.Tyr625=) single nucleotide variant Likely benign rs146591697 GRCh37 Chromosome 14, 23867953: 23867953
27 MYH6 NM_002471.3(MYH6): c.1875C> T (p.Tyr625=) single nucleotide variant Likely benign rs146591697 GRCh38 Chromosome 14, 23398744: 23398744
28 MYH6 NM_002471.3(MYH6): c.1989C> T (p.Asn663=) single nucleotide variant Benign/Likely benign rs28730774 GRCh37 Chromosome 14, 23866440: 23866440
29 MYH6 NM_002471.3(MYH6): c.1989C> T (p.Asn663=) single nucleotide variant Benign/Likely benign rs28730774 GRCh38 Chromosome 14, 23397231: 23397231
30 MYH6 NM_002471.3(MYH6): c.2151C> T (p.Tyr717=) single nucleotide variant Benign/Likely benign rs76202964 GRCh37 Chromosome 14, 23866189: 23866189
31 MYH6 NM_002471.3(MYH6): c.2151C> T (p.Tyr717=) single nucleotide variant Benign/Likely benign rs76202964 GRCh38 Chromosome 14, 23396980: 23396980
32 MYH6 NM_002471.3(MYH6): c.2579G> A (p.Arg860His) single nucleotide variant Benign rs115845031 GRCh37 Chromosome 14, 23863383: 23863383
33 MYH6 NM_002471.3(MYH6): c.2579G> A (p.Arg860His) single nucleotide variant Benign rs115845031 GRCh38 Chromosome 14, 23394174: 23394174
34 MYH6 NM_002471.3(MYH6): c.2611C> T (p.Arg871Cys) single nucleotide variant Uncertain significance rs376682837 GRCh37 Chromosome 14, 23863351: 23863351
35 MYH6 NM_002471.3(MYH6): c.2611C> T (p.Arg871Cys) single nucleotide variant Uncertain significance rs376682837 GRCh38 Chromosome 14, 23394142: 23394142
36 MYH6 NM_002471.3(MYH6): c.2614C> T (p.Arg872Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201193346 GRCh37 Chromosome 14, 23863348: 23863348
37 MYH6 NM_002471.3(MYH6): c.2614C> T (p.Arg872Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201193346 GRCh38 Chromosome 14, 23394139: 23394139
38 MYH6 NM_002471.3(MYH6): c.2806G> T (p.Ala936Ser) single nucleotide variant Benign/Likely benign rs141704264 GRCh37 Chromosome 14, 23862997: 23862997
39 MYH6 NM_002471.3(MYH6): c.2806G> T (p.Ala936Ser) single nucleotide variant Benign/Likely benign rs141704264 GRCh38 Chromosome 14, 23393788: 23393788
40 MYH6 NM_002471.3(MYH6): c.2890G> T (p.Ala964Ser) single nucleotide variant Benign/Likely benign rs144907522 GRCh37 Chromosome 14, 23862913: 23862913
41 MYH6 NM_002471.3(MYH6): c.2890G> T (p.Ala964Ser) single nucleotide variant Benign/Likely benign rs144907522 GRCh38 Chromosome 14, 23393704: 23393704
42 MYH6 NM_002471.3(MYH6): c.2928+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs28730772 GRCh37 Chromosome 14, 23862870: 23862870
43 MYH6 NM_002471.3(MYH6): c.2928+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs28730772 GRCh38 Chromosome 14, 23393661: 23393661
44 MYH6 NM_002471.3(MYH6): c.292G> A (p.Glu98Lys) single nucleotide variant Uncertain significance rs140596256 GRCh37 Chromosome 14, 23874889: 23874889
45 MYH6 NM_002471.3(MYH6): c.292G> A (p.Glu98Lys) single nucleotide variant Uncertain significance rs140596256 GRCh38 Chromosome 14, 23405680: 23405680
46 MYH6 NM_002471.3(MYH6): c.2946G> A (p.Glu982=) single nucleotide variant Benign/Likely benign rs145274612 GRCh37 Chromosome 14, 23862710: 23862710
47 MYH6 NM_002471.3(MYH6): c.2946G> A (p.Glu982=) single nucleotide variant Benign/Likely benign rs145274612 GRCh38 Chromosome 14, 23393501: 23393501
48 MYH6 NM_002471.3(MYH6): c.3118C> T (p.Leu1040=) single nucleotide variant Likely benign rs368497504 GRCh37 Chromosome 14, 23862254: 23862254
49 MYH6 NM_002471.3(MYH6): c.3118C> T (p.Leu1040=) single nucleotide variant Likely benign rs368497504 GRCh38 Chromosome 14, 23393045: 23393045
50 MYH6 NM_002471.3(MYH6): c.3297G> A (p.Glu1099=) single nucleotide variant Benign/Likely benign rs144957142 GRCh37 Chromosome 14, 23861816: 23861816

Expression for Cardiomyopathy, Familial Hypertrophic, 14

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Pathways for Cardiomyopathy, Familial Hypertrophic, 14

GO Terms for Cardiomyopathy, Familial Hypertrophic, 14

Sources for Cardiomyopathy, Familial Hypertrophic, 14

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