CMH14
MCID: CRD205
MIFTS: 25

Cardiomyopathy, Hypertrophic, 14 (CMH14) 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 52
Cardiomyopathy, Familial Hypertrophic, 14 12 68
Cardiomyopathy, Familial Hypertrophic 14 70 27
 
Cmh14 11 70
Cardiomyopathy Familial Hypertrophic 14 11
Hypertrophic Cardiomyopathy 14 11

Classifications:



External Ids:

OMIM52 613251
Disease Ontology11 DOID:0110320
MedGen37 C2750467
MeSH39 D024741

Summaries for Cardiomyopathy, Hypertrophic, 14

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UniProtKB/Swiss-Prot:70 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:52 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 Cardiomyopathy, Infantile Hypertrophic

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 & Phenotypes for Cardiomyopathy, Hypertrophic, 14

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Clinical features from OMIM:

613251

Human phenotypes related to Cardiomyopathy, Hypertrophic, 14:

 64
id Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy64 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 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SpironolactoneapprovedPhase 42321952-01-7, 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 4367
3Natriuretic AgentsPhase 41697
4Mineralocorticoid Receptor AntagonistsPhase 4346
5Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 413168
6Diuretics, Potassium SparingPhase 41917
7diureticsPhase 41418
8Hormone AntagonistsPhase 413180
9HormonesPhase 414415
10Tin Fluorides264

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effects of Spironolactone in DialysisUnknown statusNCT01128101Phase 4
2Hypertrophic Cardiomyopathy Symptom Release by BX1514MCompletedNCT02590809Phase 2
3New Diagnostic Strategy in Hypertrophic CardiomyopathyRecruitingNCT02520856
4Assessment of Wall Thickness in Hypertrophic CardiomyopathyRecruitingNCT02234336
5Stress Echo 2020 - The International Stress Echo StudyRecruitingNCT03049995

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 1427

Anatomical Context for Cardiomyopathy, Hypertrophic, 14

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

36
Heart

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:

70
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

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet