MCID: CRD089
MIFTS: 22

Cardiomyopathy, Familial Hypertrophic, 14

Categories: Genetic diseases, Cardiovascular diseases, Rare 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 Methotrexate and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotype is hypertrophic cardiomyopathy.

Disease Ontology : 12 A 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:
increased left ventricular wall thickness
decreased left ventricular fractional shortening
decreased left ventricular ejection fraction
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 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Not Applicable 1959-05-2, 59-05-2 126941
2
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
3
leucovorin Approved, Nutraceutical Not Applicable 58-05-9 143 6006
4 Antimetabolites Not Applicable
5 Antimetabolites, Antineoplastic Not Applicable
6 Antirheumatic Agents Not Applicable
7 Dermatologic Agents Not Applicable
8 Folic Acid Antagonists Not Applicable
9 Immunosuppressive Agents Not Applicable
10 Nucleic Acid Synthesis Inhibitors Not Applicable
11 Vitamin B Complex Not Applicable
12 Folate Nutraceutical Not Applicable
13 Vitamin B9 Nutraceutical 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 462)
# 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.1763A> C (p.Asp588Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs142992009 GRCh37 Chromosome 14, 23868065: 23868065
4 MYH6 NM_002471.3(MYH6): c.1763A> C (p.Asp588Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs142992009 GRCh38 Chromosome 14, 23398856: 23398856
5 MYH6 NM_002471.3(MYH6): c.4595G> T (p.Arg1532Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34330111 GRCh37 Chromosome 14, 23856793: 23856793
6 MYH6 NM_002471.3(MYH6): c.4595G> T (p.Arg1532Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34330111 GRCh38 Chromosome 14, 23387584: 23387584
7 MYH6 NM_002471.3(MYH6): c.4416A> G (p.Ser1472=) single nucleotide variant Benign/Likely benign rs140800076 GRCh37 Chromosome 14, 23857076: 23857076
8 MYH6 NM_002471.3(MYH6): c.4416A> G (p.Ser1472=) single nucleotide variant Benign/Likely benign rs140800076 GRCh38 Chromosome 14, 23387867: 23387867
9 MYH6 NM_002471.3(MYH6): c.4293G> A (p.Met1431Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs201016285 GRCh37 Chromosome 14, 23857430: 23857430
10 MYH6 NM_002471.3(MYH6): c.4293G> A (p.Met1431Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs201016285 GRCh38 Chromosome 14, 23388221: 23388221
11 MYH6 NM_002471.3(MYH6): c.3979-8_3979-7delinsGC indel Conflicting interpretations of pathogenicity rs727503235 GRCh37 Chromosome 14, 23858271: 23858272
12 MYH6 NM_002471.3(MYH6): c.3979-8_3979-7delinsGC indel Conflicting interpretations of pathogenicity rs727503235 GRCh38 Chromosome 14, 23389062: 23389063
13 MYH6 NM_002471.3(MYH6): c.3573C> T (p.Ala1191=) single nucleotide variant Benign/Likely benign rs727505358 GRCh37 Chromosome 14, 23859425: 23859425
14 MYH6 NM_002471.3(MYH6): c.3573C> T (p.Ala1191=) single nucleotide variant Benign/Likely benign rs727505358 GRCh38 Chromosome 14, 23390216: 23390216
15 MYH6 NM_002471.3(MYH6): c.2464G> A (p.Ala822Thr) single nucleotide variant Likely benign rs138419275 GRCh37 Chromosome 14, 23863498: 23863498
16 MYH6 NM_002471.3(MYH6): c.2464G> A (p.Ala822Thr) single nucleotide variant Likely benign rs138419275 GRCh38 Chromosome 14, 23394289: 23394289
17 MYH6 NM_002471.3(MYH6): c.2071G> A (p.Val691Ile) single nucleotide variant Benign/Likely benign rs148915045 GRCh37 Chromosome 14, 23866269: 23866269
18 MYH6 NM_002471.3(MYH6): c.2071G> A (p.Val691Ile) single nucleotide variant Benign/Likely benign rs148915045 GRCh38 Chromosome 14, 23397060: 23397060
19 MYH6 NM_002471.3(MYH6): c.1582-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs374941865 GRCh37 Chromosome 14, 23868253: 23868253
20 MYH6 NM_002471.3(MYH6): c.1582-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs374941865 GRCh38 Chromosome 14, 23399044: 23399044
21 MYH6 NM_002471.3(MYH6): c.1132G> A (p.Gly378Ser) single nucleotide variant Benign/Likely benign rs148962966 GRCh37 Chromosome 14, 23871682: 23871682
22 MYH6 NM_002471.3(MYH6): c.1132G> A (p.Gly378Ser) single nucleotide variant Benign/Likely benign rs148962966 GRCh38 Chromosome 14, 23402473: 23402473
23 MYH6 NM_002471.3(MYH6): c.1083G> T (p.Gly361=) single nucleotide variant Benign/Likely benign rs138928022 GRCh37 Chromosome 14, 23871731: 23871731
24 MYH6 NM_002471.3(MYH6): c.1083G> T (p.Gly361=) single nucleotide variant Benign/Likely benign rs138928022 GRCh38 Chromosome 14, 23402522: 23402522
25 MYH6 NM_002471.3(MYH6): c.800-5C> T single nucleotide variant Likely benign rs727505228 GRCh37 Chromosome 14, 23872660: 23872660
26 MYH6 NM_002471.3(MYH6): c.800-5C> T single nucleotide variant Likely benign rs727505228 GRCh38 Chromosome 14, 23403451: 23403451
27 MYH6 NM_002471.3(MYH6): c.5514G> T (p.Ser1838=) single nucleotide variant Likely benign rs727503232 GRCh37 Chromosome 14, 23853702: 23853702
28 MYH6 NM_002471.3(MYH6): c.5514G> T (p.Ser1838=) single nucleotide variant Likely benign rs727503232 GRCh38 Chromosome 14, 23384493: 23384493
29 MYH6 NM_002471.3(MYH6): c.4905C> T (p.Asn1635=) single nucleotide variant Conflicting interpretations of pathogenicity rs143048583 GRCh37 Chromosome 14, 23855578: 23855578
30 MYH6 NM_002471.3(MYH6): c.4905C> T (p.Asn1635=) single nucleotide variant Conflicting interpretations of pathogenicity rs143048583 GRCh38 Chromosome 14, 23386369: 23386369
31 MYH6 NM_002471.3(MYH6): c.4360-7C> G single nucleotide variant Conflicting interpretations of pathogenicity rs58949384 GRCh37 Chromosome 14, 23857139: 23857139
32 MYH6 NM_002471.3(MYH6): c.4360-7C> G single nucleotide variant Conflicting interpretations of pathogenicity rs58949384 GRCh38 Chromosome 14, 23387930: 23387930
33 MYH6 NM_002471.3(MYH6): c.3979-7dupT duplication Benign rs545343612 GRCh37 Chromosome 14, 23858271: 23858271
34 MYH6 NM_002471.3(MYH6): c.3979-7dupT duplication Benign rs545343612 GRCh38 Chromosome 14, 23389062: 23389062
35 MYH6 NM_002471.3(MYH6): c.3979-8dupC duplication Conflicting interpretations of pathogenicity rs730880363 GRCh37 Chromosome 14, 23858272: 23858272
36 MYH6 NM_002471.3(MYH6): c.3979-8dupC duplication Conflicting interpretations of pathogenicity rs730880363 GRCh38 Chromosome 14, 23389063: 23389063
37 MYH6 NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys) single nucleotide variant Uncertain significance rs727503236 GRCh37 Chromosome 14, 23859490: 23859490
38 MYH6 NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys) single nucleotide variant Uncertain significance rs727503236 GRCh38 Chromosome 14, 23390281: 23390281
39 MYH6 NM_002471.3(MYH6): c.2097C> T (p.Gly699=) single nucleotide variant Conflicting interpretations of pathogenicity rs149734381 GRCh37 Chromosome 14, 23866243: 23866243
40 MYH6 NM_002471.3(MYH6): c.2097C> T (p.Gly699=) single nucleotide variant Conflicting interpretations of pathogenicity rs149734381 GRCh38 Chromosome 14, 23397034: 23397034
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.1141+8G> T single nucleotide variant Benign/Likely benign rs377327277 GRCh37 Chromosome 14, 23871665: 23871665
44 MYH6 NM_002471.3(MYH6): c.1141+8G> T single nucleotide variant Benign/Likely benign rs377327277 GRCh38 Chromosome 14, 23402456: 23402456
45 MYH6 NM_002471.3(MYH6): c.1122G> A (p.Ala374=) single nucleotide variant Conflicting interpretations of pathogenicity rs148091079 GRCh37 Chromosome 14, 23871692: 23871692
46 MYH6 NM_002471.3(MYH6): c.1122G> A (p.Ala374=) single nucleotide variant Conflicting interpretations of pathogenicity rs148091079 GRCh38 Chromosome 14, 23402483: 23402483
47 MYH6 NM_002471.3(MYH6): c.831G> T (p.Gln277His) single nucleotide variant Conflicting interpretations of pathogenicity rs140660481 GRCh37 Chromosome 14, 23872624: 23872624
48 MYH6 NM_002471.3(MYH6): c.831G> T (p.Gln277His) single nucleotide variant Conflicting interpretations of pathogenicity rs140660481 GRCh38 Chromosome 14, 23403415: 23403415
49 MYH6 NM_002471.3(MYH6): c.86G> A (p.Arg29Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150574114 GRCh37 Chromosome 14, 23876347: 23876347
50 MYH6 NM_002471.3(MYH6): c.86G> A (p.Arg29Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150574114 GRCh38 Chromosome 14, 23407138: 23407138

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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