MCID: CRD205
MIFTS: 20

Cardiomyopathy, Hypertrophic, 14 malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic, 14

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Aliases & Descriptions for Cardiomyopathy, Hypertrophic, 14:

Name: Cardiomyopathy, Hypertrophic, 14 49
Cardiomyopathy, Familial Hypertrophic, 14 11 65
 
Cardiomyopathy, Familial Hypertrophic 14 67 24
Cmh14 67

Classifications:



External Ids:

OMIM49 613251
MedGen34 C2750467
MeSH36 D024741
UMLS65 C2750467

Summaries for Cardiomyopathy, Hypertrophic, 14

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UniProtKB/Swiss-Prot:67 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, Cardiac Muscle, Alpha). Affiliated tissues include heart.

Description from OMIM:49 613251

Related Diseases for Cardiomyopathy, Hypertrophic, 14

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Diseases in the Hypertrophic Cardiomyopathy family:

Cardiomyopathy, Hypertrophic, 20 Cardiomyopathy, Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 9 Cardiomyopathy, Familial Hypertrophic
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
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
Fatal Congenital Hypertrophic Cardiomyopathy Due to Glycogen Storage Disease

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

idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, familial hypertrophic10.4

Symptoms for Cardiomyopathy, Hypertrophic, 14

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Clinical features from OMIM:

613251

HPO human phenotypes related to Cardiomyopathy, Hypertrophic, 14:

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

Drugs & Therapeutics for Cardiomyopathy, Hypertrophic, 14

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SpironolactoneapprovedPhase 41591952-01-7, 52-01-75833
Synonyms:
4-18-00-01601 (Beilstein Handbook Reference)
4-Pregnen-21-oic acid-17alpha-ol-3-one-7alpha-thiol gamma-lactone 7-acetate
496916-40-6
52-01-7
7-alpha-Acetylthio-3-oxo-17-alpha-pregn-4-ene-21,17-beta-carbolactone
7alpha-(acetylsulfanyl)-3-oxo-17alpha-pregn-4-ene-21,17-carbolactone
AB00513806
AC-4214
AC1L1L8Q
Abbolactone
Acelat
Aldace
Aldactazide
Aldactide
Aldactone
Aldactone (TN)
Aldactone A
Alderon
Aldopur
Almatol
Alphapharm Brand of Spironolactone
Alpharma Brand of Spironolactone
Alter Brand of Spironolactone
Altex
Aquareduct
Ashbourne Brand of Spironolactone
Azupharma Brand of Spironolactone
BIDD:PXR0071
BPBio1_000194
BRD-K90027355-001-03-4
BRN 0057767
BSPBio_000176
C07310
C24H32O4S
CHEBI:428201
CHEBI:45692
CHEBI:9241
CHEMBL1393
CID5833
CPD000471892
Cardel Brand of Spironolactone
D00443
D013148
DB00421
Deverol
Dexo Brand of Spironolactone
Diatensec
Dira
Duraspiron
EINECS 200-133-6
Espironolactona
Espironolactona Alter
Espironolactona Mundogen
Espironolactona [INN-Spanish]
Euteberol
Flumach
Frumikal
Generosan Brand of Spironolactone
HMS1568I18
HMS2090N21
HSDB 3184
Hormosan Brand of Spironolactone
I06-1970
Jenapharm Brand of Spironolactone
Jenaspiron
LS-118614
LT00772287
Lacalmin
Lacdene
Laractone
MLS001074672
MLS001333253
MLS001333254
MLS002153245
MLS002207058
Mayoly-Spindler Brand of Spironolactone
Melarcon
Merck dura Brand of Spironolactone
Mundogen Brand of Spironolactone
NCGC00164397-01
 
NCGC00164397-02
NSC 150399
NSC150399
Nefurofan
Novo Spiroton
Novo-Spiroton
NovoSpiroton
Novopharm Brand of Spironolactone
Osyrol
Pfizer Brand of Spironolactone
Pharmafrid Brand of Spironolactone
Practon
Prestwick0_000128
Prestwick1_000128
Prestwick2_000128
Prestwick3_000128
Roche Brand of Spironolactone
S0260
S3378_SIGMA
SAM002264648
SC 9420
SC-9420
SC9420
SMR000471892
SNL
SPBio_002115
Sagisal
Searle Brand of Spironolactone
Sincomen
Spiractin
Spiresis
Spiretic
Spiridon
Spiro L.U.T.
Spiro(17H-cyclopenta(a)phenauthrene-17,2'-(3'H)-furan)
Spiro-Tablinen
Spiro[17H-cyclopenta[a]phenauthrene-17,2'-(3'H)-furan]
Spirobeta
Spiroctan
Spiroctanie
Spiroderm
Spirogamma
Spirolactone
Spirolakton
Spirolang
Spirolone
Spirone
Spirono Isis
Spirono-Isis
Spironocompren
Spironolactone
Spironolactone (JP15/USP/INN)
Spironolactone A
Spironolactone [BAN:INN:JAN]
Spironolactone [INN:BAN:JAN]
Spironolactonum
Spironolactonum [INN-Latin]
Spironolattone
Spironolattone [DCIT]
Spironone
Spirospare
Sprioderm
Supra-puren
Suracton
UNII-27O7W4T232
Uractone
Urusonin
Veroshpiron
Verospiron
Verospirone
Verospirone Opianin
WLN: L E5 B666 FX OV MUTJ A1 E1 KSV1 F-& CT5VOXTJ
Worwag Brand of Spironolactone
Xenalon
ZINC03861599
betapharm Brand of Spironolactone
ct Arzneimittel Brand of Spironolactone
ct-Arzneimittel Brand of Spironolactone
spiro von ct
spironolactone
spironolattone
von ct, spiro
2MineralocorticoidsPhase 4301
3Natriuretic AgentsPhase 41403
4Mineralocorticoid Receptor AntagonistsPhase 4284
5Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 49988
6Diuretics, Potassium SparingPhase 41445
7Hormone AntagonistsPhase 410002
8HormonesPhase 411748
9diureticsPhase 41194

Interventional clinical trials:

idNameStatusNCT IDPhase
1Assessment of Wall Thickness in Hypertrophic CardiomyopathyRecruitingNCT02234336Phase 4
2Effects of Spironolactone in DialysisRecruitingNCT01128101Phase 4
3Hypertrophic Cardiomyopathy Symptom Release by BX1514MRecruitingNCT02590809Phase 2
4New Diagnostic Strategy in Hypertrophic CardiomyopathyRecruitingNCT02520856

Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 14

Genetic Tests for Cardiomyopathy, Hypertrophic, 14

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Anatomical Context for Cardiomyopathy, Hypertrophic, 14

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

33
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:

67
id Symbol AA change Variation ID SNP ID
1MYH6p.Arg795GlnVAR_031882
2MYH6p.Gln1065HisVAR_063554

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)single nucleotide variantPathogenicrs267606907GRCh37Chr 14, 23865538: 23865538
2MYH6NM_002471.3(MYH6): c.3195G> C (p.Gln1065His)single nucleotide variantLikely pathogenic, Pathogenicrs267606904GRCh37Chr 14, 23862177: 23862177
3MYH6NM_002471.3(MYH6): c.3010G> T (p.Ala1004Ser)single nucleotide variantLikely 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet