MCID: CRD205
MIFTS: 23

Cardiomyopathy, Hypertrophic, 14 malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic, 14

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Aliases & Descriptions for Cardiomyopathy, Hypertrophic, 14:

Name: Cardiomyopathy, Hypertrophic, 14 51
Cardiomyopathy, Familial Hypertrophic, 14 12 67
Cardiomyopathy, Familial Hypertrophic 14 69 26
 
Cmh14 11 69
Cardiomyopathy Familial Hypertrophic 14 11
Hypertrophic Cardiomyopathy 14 11

Classifications:



External Ids:

OMIM51 613251
Disease Ontology11 DOID:0110320
MedGen36 C2750467
MeSH38 D024741

Summaries for Cardiomyopathy, Hypertrophic, 14

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UniProtKB/Swiss-Prot:69 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). Affiliated tissues include heart.

Disease Ontology:11 A hypertrophic cardiomyopathy that has material basis in mutation in the MYH6 gene.

Description from OMIM:51 613251

Related Diseases for Cardiomyopathy, Hypertrophic, 14

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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

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

idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, familial hypertrophic10.9

Symptoms for Cardiomyopathy, Hypertrophic, 14

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Clinical features from OMIM:

613251

Human phenotypes related to Cardiomyopathy, Hypertrophic, 14:

 63
id Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy63 HP:0001639

Drugs & Therapeutics for Cardiomyopathy, Hypertrophic, 14

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Assessment of Wall Thickness in Hypertrophic CardiomyopathyRecruitingNCT02234336Phase 4
2Hypertrophic Cardiomyopathy Symptom Release by BX1514MRecruitingNCT02590809Phase 2
3New Diagnostic Strategy in Hypertrophic CardiomyopathyRecruitingNCT02520856

Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 14

Genetic Tests for Cardiomyopathy, Hypertrophic, 14

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Genetic tests related to Cardiomyopathy, Hypertrophic, 14:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 1426

Anatomical Context for Cardiomyopathy, Hypertrophic, 14

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

35
Heart

Animal Models for Cardiomyopathy, Hypertrophic, 14 or affiliated genes

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Publications for Cardiomyopathy, Hypertrophic, 14

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Variations for Cardiomyopathy, Hypertrophic, 14

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

69
id Symbol AA change Variation ID SNP ID
1MYH6p.Arg795GlnVAR_031882rs267606907
2MYH6p.Gln1065HisVAR_063554rs267606904

Clinvar genetic disease variations for Cardiomyopathy, Hypertrophic, 14:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYH6NM_002471.3(MYH6): c.2384G> A (p.Arg795Gln)SNVPathogenicrs267606907GRCh37Chr 14, 23865538: 23865538
2MYH6NM_002471.3(MYH6): c.3195G> C (p.Gln1065His)SNVLikely pathogenic, Pathogenicrs267606904GRCh37Chr 14, 23862177: 23862177
3MYH6NM_002471.3(MYH6): c.3010G> T (p.Ala1004Ser)SNVLikely pathogenic, Pathogenicrs143978652GRCh37Chr 14, 23862646: 23862646

Expression for genes affiliated with Cardiomyopathy, Hypertrophic, 14

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

Pathways for genes affiliated with Cardiomyopathy, Hypertrophic, 14

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GO Terms for genes affiliated with Cardiomyopathy, Hypertrophic, 14

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Sources for Cardiomyopathy, Hypertrophic, 14

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet