CMH14
MCID: CRD089
MIFTS: 23

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 58 13 74
Cmh14 58 12 76
Familial Hypertrophic Cardiomyopathy 14 30 6
Cardiomyopathy, Hypertrophic, Familial, Type 14 41
Cardiomyopathy, Familial Hypertrophic 14 76
Cardiomyopathy Familial Hypertrophic 14 12
Cardiomyopathy, Hypertrophic, 14 58
Hypertrophic Cardiomyopathy 14 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
cardiomyopathy, familial hypertrophic, 14:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110320
OMIM 58 613251
MeSH 45 D024741
MedGen 43 C2750467
SNOMED-CT via HPO 70 233873004 263681008 45227007
UMLS 74 C2750467

Summaries for Cardiomyopathy, Familial Hypertrophic, 14

UniProtKB/Swiss-Prot : 76 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 Methotrexate and leucovorin 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

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 14:

33
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 33 HP:0001639

Symptoms via clinical synopsis from OMIM:

58
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

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
Methotrexate Approved Not Applicable 1959-05-2, 59-05-2 126941
2
leucovorin Approved Not Applicable 58-05-9 6006 143
3
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
4 Antimetabolites Not Applicable
5 Vitamin B Complex Not Applicable
6 Immunosuppressive Agents Not Applicable
7 Antimetabolites, Antineoplastic Not Applicable
8 Immunologic Factors Not Applicable
9 Nucleic Acid Synthesis Inhibitors Not Applicable
10 Vitamin B9 Not Applicable
11 Folate Not Applicable
12 Dermatologic Agents Not Applicable
13 Antirheumatic Agents Not Applicable
14 Folic Acid Antagonists 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 30 MYH6

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 14

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

42
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 14

Variations for Cardiomyopathy, Familial Hypertrophic, 14

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

76
# 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.4595G> T (p.Arg1532Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34330111 GRCh37 Chromosome 14, 23856793: 23856793
2 MYH6 NM_002471.3(MYH6): c.4595G> T (p.Arg1532Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34330111 GRCh38 Chromosome 14, 23387584: 23387584
3 MYH6 NM_002471.3(MYH6): c.4416A> G (p.Ser1472=) single nucleotide variant Benign/Likely benign rs140800076 GRCh38 Chromosome 14, 23387867: 23387867
4 MYH6 NM_002471.3(MYH6): c.4416A> G (p.Ser1472=) single nucleotide variant Benign/Likely benign rs140800076 GRCh37 Chromosome 14, 23857076: 23857076
5 MYH6 NM_002471.3(MYH6): c.4328C> A (p.Ala1443Asp) single nucleotide variant Uncertain significance rs727503234 GRCh37 Chromosome 14, 23857395: 23857395
6 MYH6 NM_002471.3(MYH6): c.4328C> A (p.Ala1443Asp) single nucleotide variant Uncertain significance rs727503234 GRCh38 Chromosome 14, 23388186: 23388186
7 MYH6 NM_002471.3(MYH6): c.4293G> A (p.Met1431Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs201016285 GRCh38 Chromosome 14, 23388221: 23388221
8 MYH6 NM_002471.3(MYH6): c.4293G> A (p.Met1431Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs201016285 GRCh37 Chromosome 14, 23857430: 23857430
9 MYH6 NM_002471.3(MYH6): c.3979-8_3979-7delinsGC indel Conflicting interpretations of pathogenicity rs727503235 GRCh37 Chromosome 14, 23858271: 23858272
10 MYH6 NM_002471.3(MYH6): c.3979-8_3979-7delinsGC indel Conflicting interpretations of pathogenicity rs727503235 GRCh38 Chromosome 14, 23389062: 23389063
11 MYH6 NM_002471.3(MYH6): c.3573C> T (p.Ala1191=) single nucleotide variant Benign/Likely benign rs727505358 GRCh37 Chromosome 14, 23859425: 23859425
12 MYH6 NM_002471.3(MYH6): c.3573C> T (p.Ala1191=) single nucleotide variant Benign/Likely benign rs727505358 GRCh38 Chromosome 14, 23390216: 23390216
13 MYH6 NM_002471.3(MYH6): c.2464G> A (p.Ala822Thr) single nucleotide variant Likely benign rs138419275 GRCh38 Chromosome 14, 23394289: 23394289
14 MYH6 NM_002471.3(MYH6): c.2464G> A (p.Ala822Thr) single nucleotide variant Likely benign rs138419275 GRCh37 Chromosome 14, 23863498: 23863498
15 MYH6 NM_002471.3(MYH6): c.2071G> A (p.Val691Ile) single nucleotide variant Benign/Likely benign rs148915045 GRCh37 Chromosome 14, 23866269: 23866269
16 MYH6 NM_002471.3(MYH6): c.2071G> A (p.Val691Ile) single nucleotide variant Benign/Likely benign rs148915045 GRCh38 Chromosome 14, 23397060: 23397060
17 MYH6 NM_002471.3(MYH6): c.1582-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs374941865 GRCh37 Chromosome 14, 23868253: 23868253
18 MYH6 NM_002471.3(MYH6): c.1582-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs374941865 GRCh38 Chromosome 14, 23399044: 23399044
19 MYH6 NM_002471.3(MYH6): c.1132G> A (p.Gly378Ser) single nucleotide variant Benign/Likely benign rs148962966 GRCh37 Chromosome 14, 23871682: 23871682
20 MYH6 NM_002471.3(MYH6): c.1132G> A (p.Gly378Ser) single nucleotide variant Benign/Likely benign rs148962966 GRCh38 Chromosome 14, 23402473: 23402473
21 MYH6 NM_002471.3(MYH6): c.1083G> T (p.Gly361=) single nucleotide variant Benign/Likely benign rs138928022 GRCh37 Chromosome 14, 23871731: 23871731
22 MYH6 NM_002471.3(MYH6): c.1083G> T (p.Gly361=) single nucleotide variant Benign/Likely benign rs138928022 GRCh38 Chromosome 14, 23402522: 23402522
23 MYH6 NM_002471.3(MYH6): c.800-5C> T single nucleotide variant Likely benign rs727505228 GRCh37 Chromosome 14, 23872660: 23872660
24 MYH6 NM_002471.3(MYH6): c.800-5C> T single nucleotide variant Likely benign rs727505228 GRCh38 Chromosome 14, 23403451: 23403451
25 MYH6 NM_002471.3(MYH6): c.5514G> T (p.Ser1838=) single nucleotide variant Likely benign rs727503232 GRCh37 Chromosome 14, 23853702: 23853702
26 MYH6 NM_002471.3(MYH6): c.5514G> T (p.Ser1838=) single nucleotide variant Likely benign rs727503232 GRCh38 Chromosome 14, 23384493: 23384493
27 MYH6 NM_002471.3(MYH6): c.4905C> T (p.Asn1635=) single nucleotide variant Conflicting interpretations of pathogenicity rs143048583 GRCh37 Chromosome 14, 23855578: 23855578
28 MYH6 NM_002471.3(MYH6): c.4905C> T (p.Asn1635=) single nucleotide variant Conflicting interpretations of pathogenicity rs143048583 GRCh38 Chromosome 14, 23386369: 23386369
29 MYH6 NM_002471.3(MYH6): c.4360-7C> G single nucleotide variant Conflicting interpretations of pathogenicity rs58949384 GRCh37 Chromosome 14, 23857139: 23857139
30 MYH6 NM_002471.3(MYH6): c.4360-7C> G single nucleotide variant Conflicting interpretations of pathogenicity rs58949384 GRCh38 Chromosome 14, 23387930: 23387930
31 MYH6 NM_002471.3(MYH6): c.3979-7dupT duplication Benign rs545343612 GRCh38 Chromosome 14, 23389062: 23389062
32 MYH6 NM_002471.3(MYH6): c.3979-7dupT duplication Benign rs545343612 GRCh37 Chromosome 14, 23858271: 23858271
33 MYH6 NM_002471.3(MYH6): c.3979-8dupC duplication Conflicting interpretations of pathogenicity rs193922652 GRCh38 Chromosome 14, 23389063: 23389063
34 MYH6 NM_002471.3(MYH6): c.3979-8dupC duplication Conflicting interpretations of pathogenicity rs193922652 GRCh37 Chromosome 14, 23858272: 23858272
35 MYH6 NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys) single nucleotide variant Uncertain significance rs727503236 GRCh37 Chromosome 14, 23859490: 23859490
36 MYH6 NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys) single nucleotide variant Uncertain significance rs727503236 GRCh38 Chromosome 14, 23390281: 23390281
37 MYH6 NM_002471.3(MYH6): c.2980C> A (p.Leu994Met) single nucleotide variant Uncertain significance rs727503238 GRCh37 Chromosome 14, 23862676: 23862676
38 MYH6 NM_002471.3(MYH6): c.2980C> A (p.Leu994Met) single nucleotide variant Uncertain significance rs727503238 GRCh38 Chromosome 14, 23393467: 23393467
39 MYH6 NM_002471.3(MYH6): c.2097C> T (p.Gly699=) single nucleotide variant Conflicting interpretations of pathogenicity rs149734381 GRCh38 Chromosome 14, 23397034: 23397034
40 MYH6 NM_002471.3(MYH6): c.2097C> T (p.Gly699=) single nucleotide variant Conflicting interpretations of pathogenicity rs149734381 GRCh37 Chromosome 14, 23866243: 23866243
41 MYH6 NM_002471.3(MYH6): c.1702C> T (p.Arg568Cys) single nucleotide variant Uncertain significance rs149650190 GRCh37 Chromosome 14, 23868126: 23868126
42 MYH6 NM_002471.3(MYH6): c.1702C> T (p.Arg568Cys) single nucleotide variant Uncertain significance rs149650190 GRCh38 Chromosome 14, 23398917: 23398917
43 MYH6 NM_002471.3(MYH6): c.1410C> T (p.Asp470=) single nucleotide variant Conflicting interpretations of pathogenicity rs139886074 GRCh37 Chromosome 14, 23869918: 23869918
44 MYH6 NM_002471.3(MYH6): c.1410C> T (p.Asp470=) single nucleotide variant Conflicting interpretations of pathogenicity rs139886074 GRCh38 Chromosome 14, 23400709: 23400709
45 MYH6 NM_002471.3(MYH6): c.1141+8G> T single nucleotide variant Benign/Likely benign rs377327277 GRCh37 Chromosome 14, 23871665: 23871665
46 MYH6 NM_002471.3(MYH6): c.1141+8G> T single nucleotide variant Benign/Likely benign rs377327277 GRCh38 Chromosome 14, 23402456: 23402456
47 MYH6 NM_002471.3(MYH6): c.1122G> A (p.Ala374=) single nucleotide variant Conflicting interpretations of pathogenicity rs148091079 GRCh37 Chromosome 14, 23871692: 23871692
48 MYH6 NM_002471.3(MYH6): c.1122G> A (p.Ala374=) single nucleotide variant Conflicting interpretations of pathogenicity rs148091079 GRCh38 Chromosome 14, 23402483: 23402483
49 MYH6 NM_002471.3(MYH6): c.831G> T (p.Gln277His) single nucleotide variant Conflicting interpretations of pathogenicity rs140660481 GRCh38 Chromosome 14, 23403415: 23403415
50 MYH6 NM_002471.3(MYH6): c.831G> T (p.Gln277His) single nucleotide variant Conflicting interpretations of pathogenicity rs140660481 GRCh37 Chromosome 14, 23872624: 23872624

Expression for Cardiomyopathy, Familial Hypertrophic, 14

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Pathways for Cardiomyopathy, Familial Hypertrophic, 14

GO Terms for Cardiomyopathy, Familial Hypertrophic, 14

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