CMH14
MCID: CRD205
MIFTS: 25

Cardiomyopathy, Hypertrophic, 14 (CMH14) malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic, 14

Aliases & Descriptions for Cardiomyopathy, Hypertrophic, 14:

Name: Cardiomyopathy, Hypertrophic, 14 54
Cardiomyopathy, Familial Hypertrophic, 14 13 69
Cardiomyopathy, Familial Hypertrophic 14 66 29
Cmh14 12 66
Cardiomyopathy Familial Hypertrophic 14 12
Hypertrophic Cardiomyopathy 14 12

Classifications:



External Ids:

OMIM 54 613251
Disease Ontology 12 DOID:0110320
MedGen 40 C2750467
MeSH 42 D024741

Summaries for Cardiomyopathy, Hypertrophic, 14

UniProtKB/Swiss-Prot : 66 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, Hypertrophic, 14, also known as cardiomyopathy, familial hypertrophic, 14, is related to cardiomyopathy, familial hypertrophic, and has symptoms including hypertrophic cardiomyopathy An important gene associated with Cardiomyopathy, Hypertrophic, 14 is MYH6 (Myosin Heavy Chain 6). The drugs Spironolactone and diuretics have been mentioned in the context of this disorder. Affiliated tissues include heart.

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

Description from OMIM: 613251

Related Diseases for Cardiomyopathy, Hypertrophic, 14

Diseases in the Cardiomyopathy, Familial Hypertrophic family:

Cardiomyopathy, Hypertrophic, 20 Cardiomyopathy, Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 9 Cardiomyopathy, Hypertrophic, 13
Cardiomyopathy, Hypertrophic, 8 Cardiomyopathy, Hypertrophic, 16
Cardiomyopathy, Hypertrophic, 18 Cardiomyopathy, Hypertrophic 6
Cardiomyopathy, Hypertrophic, 15 Cardiomyopathy, Hypertrophic, 12
Cardiomyopathy, Hypertrophic, 4 Cardiomyopathy, Hypertrophic, 10
Cardiomyopathy, Hypertrophic, 14 Cardiomyopathy, Hypertrophic, 11
Cardiomyopathy, Hypertrophic, 3 Cardiomyopathy, Hypertrophic, 25
Cardiomyopathy, Hypertrophic, 19 Cardiomyopathy, Hypertrophic, 7
Cardiomyopathy, Hypertrophic, 17 Hypertrophic Cardiomyopathy 21
Hypertrophic Cardiomyopathy 26 Calr3-Related Familial Hypertrophic Cardiomyopathy
Jph2-Related Familial Hypertrophic Cardiomyopathy Actc1-Related Familial Hypertrophic Cardiomyopathy
Actn2-Related Familial Hypertrophic Cardiomyopathy Cav3-Related Hypertrophic Cardiomyopathy
Csrp3-Related Familial Hypertrophic Cardiomyopathy Mybpc3-Related Familial Hypertrophic Cardiomyopathy
Myh6-Related Familial Hypertrophic Cardiomyopathy Myh7-Related Familial Hypertrophic Cardiomyopathy
Myl2-Related Familial Hypertrophic Cardiomyopathy Myl3-Related Familial Hypertrophic Cardiomyopathy
Myoz2-Related Familial Hypertrophic Cardiomyopathy Nexn-Related Familial Hypertrophic Cardiomyopathy
Pln-Related Familial Hypertrophic Cardiomyopathy Tcap-Related Familial Hypertrophic Cardiomyopathy
Tnnc1-Related Familial Hypertrophic Cardiomyopathy Tnni3-Related Familial Hypertrophic Cardiomyopathy
Tnnt2-Related Familial Hypertrophic Cardiomyopathy Tpm1-Related Familial Hypertrophic Cardiomyopathy
Ttn-Related Familial Hypertrophic Cardiomyopathy Vcl-Related Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy Due to Intensive Athletic Training Cardiomyopathy, Infantile Hypertrophic

Diseases related to Cardiomyopathy, Hypertrophic, 14 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic 10.9

Symptoms & Phenotypes for Cardiomyopathy, Hypertrophic, 14

Clinical features from OMIM:

613251

Human phenotypes related to Cardiomyopathy, Hypertrophic, 14:

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

Drugs & Therapeutics for Cardiomyopathy, Hypertrophic, 14

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

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
2 diuretics Phase 4
3 Natriuretic Agents Phase 4
4 Hormone Antagonists Phase 4
5 Hormones Phase 4
6 Diuretics, Potassium Sparing Phase 4
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
8 Mineralocorticoid Receptor Antagonists Phase 4
9 Mineralocorticoids Phase 4
10 Tin Fluorides

Interventional clinical trials:


id Name Status NCT ID Phase
1 Effects of Spironolactone in Dialysis Unknown status NCT01128101 Phase 4
2 Hypertrophic Cardiomyopathy Symptom Release by BX1514M Completed NCT02590809 Phase 2
3 New Diagnostic Strategy in Hypertrophic Cardiomyopathy Recruiting NCT02520856
4 Assessment of Wall Thickness in Hypertrophic Cardiomyopathy Recruiting NCT02234336
5 Stress Echo 2020 - The International Stress Echo Study Recruiting NCT03049995

Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 14

Genetic Tests for Cardiomyopathy, Hypertrophic, 14

Genetic tests related to Cardiomyopathy, Hypertrophic, 14:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 14 29

Anatomical Context for Cardiomyopathy, Hypertrophic, 14

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

39
Heart

Publications for Cardiomyopathy, Hypertrophic, 14

Variations for Cardiomyopathy, Hypertrophic, 14

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

66
id 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, Hypertrophic, 14:

6
id 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

Expression for Cardiomyopathy, Hypertrophic, 14

Search GEO for disease gene expression data for Cardiomyopathy, Hypertrophic, 14.

Pathways for Cardiomyopathy, Hypertrophic, 14

GO Terms for Cardiomyopathy, Hypertrophic, 14

Sources for Cardiomyopathy, Hypertrophic, 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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