MCID: CRD205
MIFTS: 22

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 50
Cardiomyopathy, Familial Hypertrophic 14 68 25
 
Cardiomyopathy, Familial Hypertrophic, 14 12
Cmh14 68

Classifications:



External Ids:

OMIM50 613251
MedGen35 C2750467
MeSH37 D024741

Summaries for Cardiomyopathy, Hypertrophic, 14

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UniProtKB/Swiss-Prot:68 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.

Description from OMIM:50 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

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

idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, familial hypertrophic10.0

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SpironolactonePhase 42171952-01-7, 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
2diureticsPhase 41338

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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Genetic tests related to Cardiomyopathy, Hypertrophic, 14:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 1425

Anatomical Context for Cardiomyopathy, Hypertrophic, 14

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

34
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:

68
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)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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet