MCID: CRD204
MIFTS: 27

Cardiomyopathy, Hypertrophic, 10 malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Hypertrophic, 10

About this section

Aliases & Descriptions for Cardiomyopathy, Hypertrophic, 10:

Name: Cardiomyopathy, Hypertrophic, 10 50
Cardiomyopathy, Familial Hypertrophic 10 68 25
Familial Hypertrophic Cardiomyopathy with Mid-Left Ventricular Chamber Type 2 68
 
Cardiomyopathy, Familial Hypertrophic, 10 12
Cmh10 68
Mvc2 68

Characteristics:

HPO:

62
cardiomyopathy, hypertrophic, 10:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 608758
MedGen35 C1834460
MeSH37 D024741

Summaries for Cardiomyopathy, Hypertrophic, 10

About this section
UniProtKB/Swiss-Prot:68 Cardiomyopathy, familial hypertrophic 10: 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. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening.

MalaCards based summary: Cardiomyopathy, Hypertrophic, 10, also known as cardiomyopathy, familial hypertrophic 10, is related to cardiomyopathy, familial hypertrophic, and has symptoms including hypertrophic cardiomyopathy, ventricular tachycardia and left ventricular septal hypertrophy. An important gene associated with Cardiomyopathy, Hypertrophic, 10 is MYL2 (Myosin Light Chain 2). Affiliated tissues include heart and testes.

Description from OMIM:50 608758

Related Diseases for Cardiomyopathy, Hypertrophic, 10

About this section

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, 10 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, familial hypertrophic10.0

Symptoms for Cardiomyopathy, Hypertrophic, 10

About this section


Clinical features from OMIM:

608758

HPO human phenotypes related to Cardiomyopathy, Hypertrophic, 10:

id Description Frequency HPO Source Accession
1 hypertrophic cardiomyopathy HP:0001639
2 ventricular tachycardia HP:0004756
3 left ventricular septal hypertrophy HP:0005144

Drugs & Therapeutics for Cardiomyopathy, Hypertrophic, 10

About this section

Drugs for Cardiomyopathy, Hypertrophic, 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
TadalafilPhase 4145171596-29-5110635
Synonyms:
(6R,12AR)-2,3,6,7,12,12a-hexahydro-2-methyl-6-(3,4-(methylenedioxy)phenyl) pyrazino(1',2':1,6)pyrido(3,4-b)indole-1,4-dione
(6R,12aR)-2,3,6,7,12,12a-Hexahydro-2-methyl-6-(3,4-(methylenedioxy)phenyl) pyrazino(1',2':1,6)pyrido(3,4-b)indole-1,4-dione
(6R,12aR)-2,3,6,7,12,12a-Hexahydro-2-methyl-6-(3,4-methylenedioxyphenyl)pyrazino(1',2':1,6)pyrido(3,4-b)indole-1,4-dione
(6R-trans)-6-(1,3-Benzodioxol-5-yl)-2,3,6,7,12,12a-hexahydro-2-methyl-pyrazino(1',2':1,6)pyrido(3,4-b)indole-1,4-dione
171596-29-5
1xoz
6-BENZO[1,3]dioxol-5-yl-2-methyl-2,3,6,7,12,12a-hexahydro-pyrazino[1',2':1,6]pyrido[3,4-b]indole-1,4-dione
AC1L380B
ADCIRCA
Acdirca
Adcirca
C429886
CHEBI:41488
CHEMBL779
CID110635
CPD000466321
Cialis
Cialis (TN)
Cialis, GF 196960, IC 351, ICOS 351, Tadalafil
D02008
DB00820
FT-0080116
GF 196960
GF-196960
 
HMS2051N17
HSDB 7303
IC 351
IC-351
ICOS 351
Ic351
KS-1117
LS-186558
LS-187015
LS-187770
Lilly brand of tadalafil
MLS000759426
MLS001165782
MLS001195644
MLS001424132
MolPort-002-885-864
S1512_Selleck
SAM001246586
SMR000466321
Tadalafil
Tadalafil (JAN/USAN/INN)
Tadalafil [USAN]
Tadanafil
UNII-742SXX0ICT
ZINC03993855
2
TrimetazidinePhase 275011-34-7
Synonyms:
 
1-[2,3,4-trimethoxybenzyl] piperazine dihydrochloride
3
Octreotide20683150-76-9383414, 6400441
Synonyms:
(4R,7S,10S,13R,16S,19R)-10-(4-aminobutyl)-19-[[(2R)-2-amino-3-phenylpropanoyl]amino]-16-benzyl-N-[(2R,3R)-1,3-dihydroxybutan-2-yl]-7-[(1R)-1-hydroxyethyl]-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
10-(4-Aminobutyl)-19-((2-amino-3-phenylpropanoyl)amino)-16-benzyl-7-(1-hydroxyethyl)-N-(2-hydroxy-1-(hydroxymethyl)propyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentaa
10-(4-aminobutyl)-19-[(2-amino-3-phenylpropanoyl)amino]-16-benzyl-N-(1,3-dihydroxybutan-2-yl)-7-(1-hydroxyethyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
10-(4-aminobutyl)-19-[(2-amino-3-phenylpropanoyl)amino]-16-benzyl-N-[(2R,3R)-1,3-dihydroxybutan-2-yl]-7-(1-hydroxyethyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
79517-01-4 (acetate salt)
83150-76-9
AC1L1GVU
AC1L8LCD
AC1L9M4X
C07306
C5H12O2.C4H10
CHEBI:427278
CHEBI:611465
CHEMBL1680
CID383414
CID448601
CID54374
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-L-cysteinyl-L-threoninol cyclic (2-7)-disulfide
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-N-((1R,2R)-2-hydroxy-1-(hydroxymethyl)propyl)-L-cysteinamide cyclic (2-7)-disulfide
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-N-((1R,2R)-2-hydroxy-1-(hydroxymethyl)propyl)-L-cysteinamide cyclic (2->7)-disulfide
D00442
DRG-0115
HMS2090C09
HS-2020
 
L-Cysteinamide, D-phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L- threonyl-N-(2-hydroxy-1-(hydroxymethyl)propyl)-, cyclic (2->7)-disulfide, (R-(R*
L000453
LS-177735
LS-187135
Longastatin
NCGC00181796-01
NCI60_025753
Octreotida
Octreotida [Spanish]
Octreotide
Octreotide (USAN/INN)
Octreotide Acetate Salt
Octreotide [USAN:INN:BAN]
Octreotide-LAR
Octreotidum
Octreotidum [Latin]
Octrotide
SAN 201-995
SM 201-995
SMS 201-995
SMS-201-995
Sandostatine
Sandoz 201-995
UNII-RWM8CCW8GP
nchembio.184-comp3
zacycloicosane-4-carboxamide acetate
4
Somatostatin21238916-34-6, 51110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
5
lanreotide79108736-35-2
Synonyms:
Lanreotide
 
Lanreotide acetate
Somatuline Depot
6
Dobutamine11134368-04-236811
Synonyms:
(+-)-4-(2-((3-(P-Hydroxyphenyl)-1-methylpropyl)amino)ethyl)pyrocatechol
(+-)-4-(2-((3-(p-Hydroxyphenyl)-1-methylpropyl)amino)ethyl)pyrocatechol
3,4-Dihydroxy-N-[3-(4-hydroxyphenyl)-1-methylpropyl]-beta-phenylethylamine
3,4-dihydroxy-N-[3-(4-hydroxyphenyl)-1-methylpropyl]-beta-phenylethylamine
34368-04-2
34368-04-2 (Parent)
4-(2-{[3-(4-hydroxyphenyl)-1-methylpropyl]amino}ethyl)benzene-1,2-diol
4-(2-{[4-(4-hydroxyphenyl)butan-2-yl]amino}ethyl)benzene-1,2-diol
4-[2-[4-(4-hydroxyphenyl)butan-2-ylamino]ethyl]benzene-1,2-diol
4-{2-[3-(4-hydroxy-phenyl)-1-methyl-propylamino]-ethyl}-benzene-1,2-diol
52663-81-7 (hydrochloride)
74753-15-4
74753-15-4 (hydrobromide)
AC1L1WFF
AC1Q7AD1
BPBio1_000489
BRD-A78322124-003-03-3
BSPBio_000443
C06967
CHEBI:4670
CHEMBL926
CID36811
D03879
DB00841
DL-Dobutamine
DL-dobutamine
Dobutamin
Dobutamina
Dobutamina [INN-Spanish]
Dobutamine
Dobutamine (USP/INN)
Dobutamine Hcl
Dobutamine Hcl in Dextrose 5%
 
Dobutamine Hydrochloride
Dobutamine Tartrate (1:1), (S-(R*,R*))-Isomer
Dobutamine [USAN:BAN:INN]
Dobutamine [USAN]
Dobutamine [Usan:Ban:Inn]
Dobutamine [Usan]
Dobutamine hydrobromide
Dobutaminum
Dobutaminum [INN-Latin]
Dobutrex
EINECS 277-982-4
HMS2089K05
Inotrex
L001157
LS-174467
LY 81929
Lilly 81929
Lopac0_000365
NCGC00015321-05
NCGC00024629-02
NCGC00024629-03
Prestwick0_000352
Prestwick1_000352
Prestwick2_000352
Prestwick3_000352
Racemic-Dobutamine
Racemic-dobutamine
SPBio_002364
UNII-0WR771DJXV
UNII-3S12J47372
dobutamine
dobutamine(usp)
rac-Dobutamine
rac-dobutamine
racemic-Dobutamine
7calcium channel blockers1889
8
Amlodipine46488150-42-92162
Synonyms:
()-Amlodipine
(RS)-3-ethyl 5-methyl 2-[(2-aminoethoxy)methyl]-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
-3-(ethoxycarbonyl)-5-(methoxycarbonyl)-6-methyl-1,4-dihydropyridine
2-[(2-Aminoethoxy)methyl]-4-(2-chlorophenyl)
3,5-Pyridinedicarboxylic acid, 2-((2-aminoethoxy)methyl)-4-(2-chlorophenyl)-1,4-dihydro-6-methyl-, 3-ethyl 5-methyl ester
3,5-Pyridinedicarboxylic acid, 2-[(2-aminoethoxy)methyl]-4-(2-chlorophenyl)-1,4-dihydro-6-methyl-, 3-ethyl 5-methyl ester
3-Ethyl 5-methylester, (±)-2-[(2-aminoethoxy)methyl]-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl ( -)-2-((2-aminoethoxy)methyl)-4-(2-chlorphenyl)-1,4-dihydro-6-methyl-3,5-pyridindicarboxylat
3-Ethyl-5-methyl ( -)-2-((2-aminoethoxymethyl)-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl (+-)-2-(2-aminoethoxymethyl)-4-(O-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl (+-)-2-(2-aminoethoxymethyl)-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl (.+/-.)-2-[(2-aminoethoxy)methyl]-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-O-ethyl 5-O-methyl 2-(2-aminoethoxymethyl)-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
3-ethyl 5-methyl 2-[(2-aminoethoxy)methyl]-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
3-ethyl 5-methyl 2-{[(2-aminoethyl)oxy]methyl}-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
88150-42-9
88150-47-4 (maleate (1:1))
AC-4535
AC1L1D26
AC1Q32ZS
AMLODIPINE BASE
AMVAZ
Ambap88150-42-9
Amlocard
Amlodipine
Amlodipine (INN)
Amlodipine Benzenesulfonate
Amlodipine Besilate
Amlodipine Besylate
Amlodipine Free Base
Amlodipine [INN:BAN]
Amlodipine besilate
Amlodipine besylate
Amlodipine free base
Amlodipino
Amlodipino [Spanish]
Amlodipinum
Amlodipinum [Latin]
Amlodis
Amlopres
Amlor
 
Amvaz
BIDD:GT0810
BRD-A22032524-074-02-4
BRD-A22032524-074-03-2
BSPBio_002727
C06825
CHEBI:2668
CHEMBL1491
CID2162
CPD000469198
Coroval
D07450
DB00381
HMS2052N03
HMS2089H07
I14-0798
Intervask
Istin
KBio3_001947
KBioGR_001643
LS-131183
Lipinox
Lotrel
MLS001401409
MolPort-001-792-963
NCGC00165957-01
NCGC00165957-02
NCGC00165957-03
Norvasc
Norvasc (TN)
Pelmec
R,S)-Amlodipine
Racemic Amlodipine
SAM001246705
SMR000469198
SPBio_000351
Spectrum2_000486
Spectrum3_001004
Spectrum4_001132
Spectrum5_001550
UK-4834011
UNII-1J444QC288
amlodipine
9
Dipyridamole7958-32-23108
Synonyms:
2,6-Bis(diethanolamine)-4,8-dipiperidinopyrimido[5,4-d]pyrimidine
2,6-Bis(diethanolamino)-4,8-dipiperidinopyrimido(5,4-d)pyrimidine
2,6-Bis(diethanolamino)-4,8-dipiperidinopyrimido[5,4-d]pyrimidine
4-26-00-03840 (Beilstein Handbook Reference)
58-32-2
AB00051974
AC-18100
AC1L1F6T
AC1Q7CXU
AC1Q7CXW
AC1Q7CXX
AKOS000509426
Agilease
Anginal
Antistenocardin
Apo-Dipyridamole
Apo-Dipyridamole Fc
Apo-Dipyridamole Sc
Apotex Brand of Dipyridamole
Apricor
Ashbourne Brand of Dipyridamole
BAS 00818792
BIM-0050449.0001
BPBio1_000270
BRD-K86301799-001-04-1
BRN 0068373
BSPBio_000244
BSPBio_001554
BSPBio_001924
Belmac Brand of Dipyridamole
Berlin Chemie Brand of Dipyridamole
Berlin-Chemie Brand of Dipyridamole
Bio-0173
Boehringer Ingelheim Brand of Dipyridamole
C24H40N8O4
CAS-58-32-2
CHEBI:4653
CHEMBL932
CID3108
CPD000058382
Cardioflux
Cardoxil
Cardoxin
Cerebrovase
Chilcolan
Cleridium
Cleridium 150
Coribon
Coridil
Coronarine
Corosan
Coroxin
Curantil
Curantyl
D 9766
D00302
D004176
D2274
D9766_SIGMA
DB00975
Dipiridamol
Dipiridamol [INN-Spanish]
Dipyramidole
Dipyridamine
Dipyridamol
Dipyridamole (JP15/USP/INN)
Dipyridamole [USAN:INN:BAN:JAN]
Dipyridamolum
Dipyridamolum [INN-Latin]
Dipyridan
Dipyudamine
DivK1c_000696
Dypyridamol
EINECS 200-374-7
EU-0100464
Gulliostin
HMS1568M06
HMS1791N16
HMS1920I10
HMS1989N16
HMS2089N15
HMS2091O18
 
HMS502C18
IDI1_000696
IPRAD Brand of Dipyridamole
Iv Persantine
Justpertin
KBio1_000696
KBio2_001484
KBio2_004052
KBio2_006620
KBio3_001144
KBioGR_001123
KBioSS_001484
Kurantil
LS-66732
Lopac-D-9766
Lopac0_000464
MLS000028420
MLS001076306
MLS001333724
Miosen
MolPort-001-792-504
NCGC00015385-01
NCGC00015385-02
NCGC00015385-03
NCGC00015385-07
NCGC00015385-15
NCGC00023914-02
NCGC00023914-04
NCGC00023914-05
NCGC00023914-06
NCGC00023914-07
NCGC00023914-08
NCGC00023914-09
NCGC00023914-10
NCGC00023914-11
NCI60_005689
NINDS_000696
NSC 515776
NSC-515776
NSC515776
Natyl
Novo-Dipiradol
Novopharm Brand of Dipyridamole
Peridamol
Permiltin
Permole, Persantine, Dipyridan, Dipyridamole
Persantin
Persantine
Persantine (TN)
Piroan
Prandiol
Prandiol 75
Prestwick0_000142
Prestwick1_000142
Prestwick2_000142
Prestwick3_000142
Prestwick_145
Protangix
RA 8
RA-8
S1867_Selleck
S1895_Selleck
SAM002264609
SMP2_000208
SMR000058382
SPBio_001003
SPBio_002183
SPECTRUM1500259
Spectrum2_000972
Spectrum3_000402
Spectrum4_000522
Spectrum5_000839
Spectrum_001004
Stenocardil
Stenocardiol
Stimolcardio
Tocris-0691
UNII-64ALC7F90C
UPCMLD-DP072
UPCMLD-DP072:001
Usaf Ge-12
WLN: T66 BN DN GN INJ CCN HCN E- AT6NTJ B2Q F2Q& J- AT6NTJ B2Q F2Q
ZINC00643046
dipyridamole

Interventional clinical trials:

(show all 14)
idNameStatusNCT IDPhase
1Aortic Stenosis and PhosphodiEsterase iNhibition With Aortic Valve Replacement (ASPEN-AVR): A Pilot StudyTerminatedNCT01272388Phase 4
2Trimetazidine Therapy in Hypertrophic CardiomyopathyRecruitingNCT01696370Phase 2
3Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic CardiomyopathyWithdrawnNCT01556568Phase 2
4The Perceived Impact of Children s Risk Status for Hypertrophic Cardiomyopathy on Families: an Exploratory StudyCompletedNCT01160536
5Value of Cardiac Magnetic Resonance (CMR) Derived Parameters for Diagnosing Left Ventricular Non-compaction CardiomyopathyCompletedNCT01481298
6Reduced Contractile Reserve: a Therapeutic Target in Heart Failure With Preserved Ejection Fraction(HFpEF)CompletedNCT01354613
7Cardiovascular Outcome After Surgery or Somatostatin AnaloguesCompletedNCT00615004
8Exercise Training in Patients With Hypertrophic CardiomyopathyRecruitingNCT01518114
9Non-Invasive Evaluation of Myocardial Stiffness by Elastography in Pediatric Cardiology (Elasto-Pédiatrie)RecruitingNCT02619825
10Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
11Prognosis of Subjects With Unexplainable Precordial Deep T-wave Inversion Without Wall Thickness> 15mmRecruitingNCT02692508
12T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart DiseaseRecruitingNCT02350829
13Study of Hypertrophic Cardiomyopathy Under Stress Conditions. Concordance Between Two Complementary Tests: Stress MRI and Exercice Stress EchocardiographyActive, not recruitingNCT02500420
14Prevalence of Transthyretin Amyloidosis in Hypertrophic CardiomyopathyActive, not recruitingNCT01623245

Search NIH Clinical Center for Cardiomyopathy, Hypertrophic, 10

Genetic Tests for Cardiomyopathy, Hypertrophic, 10

About this section

Genetic tests related to Cardiomyopathy, Hypertrophic, 10:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 1025

Anatomical Context for Cardiomyopathy, Hypertrophic, 10

About this section

MalaCards organs/tissues related to Cardiomyopathy, Hypertrophic, 10:

34
Heart, Testes

Animal Models for Cardiomyopathy, Hypertrophic, 10 or affiliated genes

About this section

Publications for Cardiomyopathy, Hypertrophic, 10

About this section

Variations for Cardiomyopathy, Hypertrophic, 10

About this section

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Hypertrophic, 10:

68
id Symbol AA change Variation ID SNP ID
1MYL2p.Ala13ThrVAR_004601rs104894363
2MYL2p.Phe18LeuVAR_004602rs28932774
3MYL2p.Glu22LysVAR_004603rs104894368
4MYL2p.Arg58GlnVAR_004604rs28933099
5MYL2p.Pro95AlaVAR_004605rs121913658
6MYL2p.Asp166ValVAR_019844rs199474815

Clinvar genetic disease variations for Cardiomyopathy, Hypertrophic, 10:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYL2NM_000432.3(MYL2): c.484G> A (p.Gly162Arg)single nucleotide variantLikely pathogenic, Pathogenicrs199474814GRCh37Chr 12, 111348898: 111348898
2MYL2NM_000432.3(MYL2): c.64G> A (p.Glu22Lys)single nucleotide variantLikely pathogenic, Pathogenicrs104894368GRCh37Chr 12, 111356937: 111356937
3MYL2NM_000432.3(MYL2): c.283C> G (p.Pro95Ala)single nucleotide variantPathogenicrs121913658GRCh37Chr 12, 111351120: 111351120
4MYL2NM_000432.3(MYL2): c.173G> A (p.Arg58Gln)single nucleotide variantLikely pathogenic, Pathogenicrs104894369GRCh37Chr 12, 111352091: 111352091
5MYL2NM_000432.3(MYL2): c.52T> C (p.Phe18Leu)single nucleotide variantPathogenicrs104894370GRCh37Chr 12, 111356949: 111356949
6MYL2NM_000432.3(MYL2): c.125G> A (p.Gly42Asp)single nucleotide variantLikely pathogenicrs863225117GRCh38Chr 12, 110915759: 110915759

Expression for genes affiliated with Cardiomyopathy, Hypertrophic, 10

About this section
Search GEO for disease gene expression data for Cardiomyopathy, Hypertrophic, 10.

Pathways for genes affiliated with Cardiomyopathy, Hypertrophic, 10

About this section

GO Terms for genes affiliated with Cardiomyopathy, Hypertrophic, 10

About this section

Sources for Cardiomyopathy, Hypertrophic, 10

About this section
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