MCID: MYT021
MIFTS: 62

Myotonic Dystrophy 1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Muscle diseases

Aliases & Classifications for Myotonic Dystrophy 1

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 34LifeMap Discovery®, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Myotonic Dystrophy 1:

Name: Myotonic Dystrophy 1 51 69 12 34 67
Myotonic Dystrophy Type 1 11 23 47 24 53 13
Steinert Myotonic Dystrophy 47 53 69 26
Steinert Disease 11 47 53 69
Dm1 47 24 53 69
Congenital Myotonic Dystrophy 11 47 67
Steinert's Disease 23 47 24
Dystrophia Myotonica 11 69
Myotonic Dystrophy 38 67
 
Myotonic Muscular Dystrophy Type 1 24
Myotonic Dystrophy of Steinert 11
Myotonic Dystrophy Congenital 49
Dystrophia Myotonica Type 1 47
Major Affective Disorder 1 67
Dystrophia Myotonica 1 69
Md1 53
Dm 69

Characteristics:

Orphanet epidemiological data:

53
myotonic dystrophy type 1:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-5/10000 (United Kingdom),1-5/10000 (Iceland),1-9/100000 (Serbia),1-9/100000 (Japan),1-9/1000000 (Taiwan, Province of China),1-5/10000 (South Africa),6-9/10000,>1/1000,1-9/1000000 (Serbia),1-9/100000 (Italy),1-5/10000 (Ireland),1-5/10000,1-9/100000,1-5/10000 (Croatia); Age of onset: Adult,Neonatal; Age of death: any age

HPO:

63
myotonic dystrophy 1:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: penetrance is high (nearly 100% by age 50 years) when all manifestations of the disease, even those that are subtle, are sought. however, mild cases (e.g., persons with only cataracts) may be missed [moxley & meola 2008]...


Classifications:



External Ids:

OMIM51 160900
Disease Ontology11 DOID:11722
ICD1029 G71.11
ICD9CM31 359.21
MeSH38 D009223
NCIt44 C84914
Orphanet53 ORPHA273
MESH via Orphanet39 C538008
UMLS via Orphanet68 C2931688
ICD10 via Orphanet30 G71.1

Summaries for Myotonic Dystrophy 1

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OMIM:51 Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts,... (160900) more...

MalaCards based summary: Myotonic Dystrophy 1, also known as myotonic dystrophy type 1, is related to myotonic dystrophy 2 and myotonic dystrophy, and has symptoms including mask-like facies, hypertonia and myotonia. An important gene associated with Myotonic Dystrophy 1 is DMPK (Dystrophia Myotonica Protein Kinase), and among its related pathways are African trypanosomiasis and nNOS Signaling at Neuronal Synapses. Affiliated tissues include skeletal muscle, heart and eye, and related mouse phenotype muscle.

Disease Ontology:11 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has physical basis in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.

NIH Rare Diseases:47 Myotonic dystrophy type 1, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, endocrine system, central nervous system).  Myotonic dystrophy type 1 has been categorized into three somewhat overlapping subtypes: mild, classic, and congenital (present at birth). Symptoms of the mild form are the least severe with a normal life span. The classic form is characterized by muscle weakness and wasting, prolonged muscle tensing (myotonia), cataract, and often abnormal heart function; adults may become physically disabled and may have a shortened life span. The congenital form is characterized by severe generalized weakness at birth (hypotonia), often causing complications with breathing and early death. The condition is inherited in an autosomal dominant pattern and is caused by mutations in the DMPK gene. Treatment is based on each person's specific signs and symptoms. Last updated: 1/15/2017

UniProtKB/Swiss-Prot:69 Dystrophia myotonica 1: A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias.

GeneReviews for NBK1165

Related Diseases for Myotonic Dystrophy 1

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Graphical network of diseases related to Myotonic Dystrophy 1:



Diseases related to myotonic dystrophy 1

Symptoms for Myotonic Dystrophy 1

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Symptoms by clinical synopsis from OMIM:

160900

Clinical features from OMIM:

160900

Human phenotypes related to Myotonic Dystrophy 1:

 63 53 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mask-like facies63 53 hallmark (90%) Very frequent (99-80%) HP:0000298
2 hypertonia63 53 hallmark (90%) Very frequent (99-80%) HP:0001276
3 myotonia63 53 hallmark (90%) Very frequent (99-80%) HP:0002486
4 skeletal muscle atrophy63 53 hallmark (90%) Very frequent (99-80%) HP:0003202
5 emg abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0003457
6 arrhythmia63 hallmark (90%) HP:0011675
7 cataract63 53 typical (50%) Frequent (79-30%) HP:0000518
8 abnormality of the endocrine system63 53 typical (50%) Frequent (79-30%) HP:0000818
9 muscular hypotonia63 53 typical (50%) Frequent (79-30%) HP:0001252
10 respiratory insufficiency63 typical (50%) HP:0002093
11 facial palsy63 53 typical (50%) Frequent (79-30%) HP:0010628
12 cognitive impairment63 typical (50%) HP:0100543
13 cryptorchidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000028
14 hydrocephalus63 53 occasional (7.5%) Occasional (29-5%) HP:0000238
15 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
16 abnormality of the hip bone63 occasional (7.5%) HP:0003272
17 hernia of the abdominal wall63 53 occasional (7.5%) Occasional (29-5%) HP:0004299
18 abnormality of the upper urinary tract63 53 occasional (7.5%) Occasional (29-5%) HP:0010935
19 abnormal hair quantity63 53 occasional (7.5%) Frequent (79-30%) HP:0011362
20 non-midline cleft lip63 53 occasional (7.5%) Occasional (29-5%) HP:0100335
21 atrial flutter63 4% HP:0004749
22 atrial fibrillation63 very rare (1%) HP:0005110
23 testicular atrophy63 53 Frequent (79-30%) HP:0000029
24 hypogonadism63 HP:0000135
25 cholelithiasis63 HP:0001081
26 facial diplegia63 HP:0001349
27 decreased fetal movement63 HP:0001558
28 polyhydramnios63 HP:0001561
29 dysphagia63 HP:0002015
30 cerebral atrophy63 HP:0002059
31 respiratory distress63 53 Frequent (79-30%) HP:0002098
32 excessive daytime sleepiness63 HP:0002189
33 frontal balding63 HP:0002292
34 intellectual disability, progressive63 53 Frequent (79-30%) HP:0006887
35 obsessive-compulsive trait63 HP:0008770
36 feeding difficulties in infancy63 HP:0008872
37 intellectual disability, severe63 53 Very frequent (99-80%) HP:0010864
38 first degree atrioventricular block63 53 Very frequent (99-80%) HP:0011705
39 malformation of the heart and great vessels53 Frequent (79-30%)
40 hip dislocation53 Occasional (29-5%)

UMLS symptoms related to Myotonic Dystrophy 1:


excessive daytime somnolence, weakness

Drugs & Therapeutics for Myotonic Dystrophy 1

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Drugs for Myotonic Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 139)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Trastuzumabapproved, investigationalPhase 3, Phase 2, Phase 1766180288-69-19903
Synonyms:
180288-69-1
Anti HER2
Anti-erbB2 Monoclonal Antibody
D03257
HER2 Monoclonal Antibody
Herceptin
 
Herceptin (TN)
Ig gamma-1 chain C region
Trastuzumab
Trastuzumab (INN)
Trastuzumab (genetical recombination)
Trastuzumab (genetical recombination) (JAN)
trastuzumab
2
Paclitaxelapproved, vet_approvedPhase 3, Phase 2, Phase 1275833069-62-436314
Synonyms:
(2AR-(2aalpha,4beta,4abeta,6beta,9alpha(alpha r*,betas*),11alpha,12alpha,12balpha))-beta-(benzoylamino)-alpha-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester
12-benzoate, 9-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
157069-30-2
33069-62-4
5beta,20-Epoxy-1,2-alpha,4,7beta,10beta,13alpha-hexahydroxytax-11-en-9-one 4,10-diacetate 2-benzoate 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
7,11-Methano-1H-cyclodeca[3,4]benz[1,2-b]oxete, benzenepropanoic acid deriv.
7,11-Methano-5H-cyclodeca[3,4]benz[1,2-b]oxete,benzenepropanoic acid deriv.
7-Epi-Paclitaxel
7-Epi-Taxol
7-Epipaclitaxel
7-Epitaxol
7-epi-Paclitaxel
7-epi-Taxol
AB00513812
ABI 007
ABI-007
ABI007
AC-675
AC1L1IOG
AC1L1VJI
AC1L9AVF
ACon1_002231
ANX-513
Abraxane
Abraxane (TN)
Abraxane I.V. Suspension
Abraxis BioScience brand of albumin-bound paclitaxel
Ambotz33069-62-4
Anzatax
Asotax
BIDD:PXR0046
BMS 181339-01
BMS-181339
BMS-181339-01
BPBio1_000320
BRD-A23723433-001-01-2
BRD-A28746609-001-04-0
BRD-K62008436-001-03-1
BSPBio_000290
BSPBio_001152
BSPBio_002614
Bio-0076
Bio1_000362
Bio1_000851
Bio1_001340
Bio2_000416
Bio2_000896
Bristaxol
C07394
C466458
C47H51NO14
CCRIS 8143
CHEBI:103439
CHEBI:45863
CHEMBL100910
CHEMBL418410
CHEMBL48
CID36314
CID441276
CID4666
CID6713921
CID6915727
CPD-8718
Capxol
D00491
DB01229
DHP-107
DHP-208
DRG-0190
DTS-301
DivK1c_000441
EU-0101201
Ebetaxel
EmPAC
Epitaxol
Genaxol
Genetaxyl
Genexol
Genexol-PM
HMS1362J13
HMS1568O12
HMS1792J13
HMS1922K08
HMS1990J13
HMS2090D07
HMS2093K15
HMS501G03
HSDB 6839
I06-0014
IDI1_000441
IDI1_002171
Intaxel
KBio1_000441
KBio2_000492
KBio2_002016
KBio2_002509
KBio2_003060
KBio2_004584
KBio2_005077
KBio2_005628
KBio2_007152
KBio2_007645
KBio3_000903
KBio3_000904
KBio3_001834
KBio3_002987
KBioGR_000492
KBioGR_001893
 
KBioGR_002509
KBioSS_000492
KBioSS_002016
KBioSS_002517
LMPR0104390001
LS-31070
LipoPac
Lopac0_001201
MBT 0206
MEGxp0_001940
MLS000863266
MLS001077297
MLS002154218
MLS002172439
MLS002695976
MPI-5018
Micellar Paclitaxel
Mitotax
MolPort-001-742-627
MolPort-003-665-783
MolPort-003-932-365
NCGC00024995-02
NCGC00024995-03
NCGC00024995-04
NCGC00024995-05
NCGC00024995-06
NCGC00024995-07
NCGC00164367-01
NCGC00164367-02
NCGC00164367-03
NCI60_000601
NINDS_000441
NK 105
NP-010981
NSC 125973
NSC-125973
NSC125973
NSC358882
Nanotaxel
Neuro_000060
Nova-12005
OAS-PAC-100
OncoGel
Onxal
Onxol
Onxol, Taxol, Nov-Onxol, Paclitaxel
P1632
Paclical
Pacligel
Paclitaxel
Paclitaxel (JAN/USP)
Paclitaxel (JAN/USP/INN)
Paclitaxel (Taxol)
Paclitaxel [USAN:INN:BAN]
Paxceed
Paxene
Paxoral
Plaxicel
Praxel
Prestwick0_000155
Prestwick1_000155
Prestwick2_000155
Prestwick3_000155
Probes2_000350
QW 8184
S-8184 Paclitaxel Injectable Emulsion
S1150_Selleck
SDCCGMLS-0066823.P001
SDP-013
SMP1_000228
SMR000394086
SMR000857385
SPBio_000943
SPBio_002229
SPECTRUM1503908
ST50306996
Spectrum2_000872
Spectrum3_001057
Spectrum4_001197
Spectrum5_001491
Spectrum_001536
T 7402
T1912_SIGMA
T7191_SIGMA
T7402_SIGMA
TA1
TAXOL (TN)
TAXOL, 10-EPI,
TXL
TaxAlbin
Taxol
Taxol A
Taxol Konzentrat
Taxol.RTM. (Registered Trademark)
UNII-P88XT4IS4D
UPCMLD-DP108:001
UPCMLD-DP108:002
Vascular Wrap
Xorane
Yewtaxan
abi-007
albumin-bound paclitaxel
cMAP_000068
nab-paclitaxel
nchembio.188-comp1
nchembio.2007.34-comp9
nchembio.215-comp9
nchembio853-comp6
paclitaxel
weekly paclitaxel
3
PertuzumabapprovedPhase 3, Phase 2, Phase 1118145040-37-5, 380610-27-52540
Synonyms:
2C4 Antibody
380610-27-5
D05446
Immunoglobulin G1, anti-(human v (receptor)) (human-mouse monoclonal 2C4 heavy chain), disulfide with human-mouse monoclonal 2C4 kappa-chain, dimer
LS-185920
MOAB 2C4
MOAB2C4
Monoclonal Antibody 2C4
 
Omnitarg
Perjeta
Pertuzumab
Pertuzumab (USAN/INN)
Pertuzumab (genetical recombination)
Pertuzumab (genetical recombination) (JAN)
pertuzumab
rhuMAb 2C4
rhuMAb-2C4
4
Lamotrigineapproved, investigationalPhase 318384057-84-13878
Synonyms:
3,5-Diamino-6-(2,3-dichlorophenyl)-1,2,4-triazine
3,5-Diamino-6-(2,3-dichlorophenyl)-as-triazine
3,5-diamino-6-(2,3-dichlorophenyl)- as -triazine
6-(2,3-Dichlorophenyl)-1,2,4-triazine-3,5-diyldiamine
6-(2,3-dichlorophenyl)-1,2,4-triazine-3,5-diamine
84057-84-1
AC-10298
AC1L1GWT
BIDD:GT0794
BW 430C
BW-430C
Bio-0056
C047781
CHEBI:138727
CHEBI:6367
CHEMBL741
CID3878
CPD000058464
Crisomet
D00354
DB00555
Desitin Brand of Lamotrigine
EINECS 281-901-8
EU-0100688
EUR-1048
Faes Brand of Lamotrigine
GI 267119X
GW 273293
Glaxo Wellcome Brand of Lamotrigine
GlaxoSmithKline Brand of Lamotrigine
HMS2051C10
HMS2089M08
HMS2093P21
HSDB 7526
Juste Brand of Lamotrigine
L 3791
L3791_SIGMA
LS-155249
 
Labileno
Lamictal
Lamictal (TN)
Lamictal CD
Lamictal Cd
Lamictal ODT
Lamictal XR
Lamictin
Lamiktal
Lamitor
Lamotrigina
Lamotrigina [Spanish]
Lamotrigine
Lamotrigine (JAN/USAN/INN)
Lamotrigine [USAN:INN:BAN]
Lamotriginum
Lamotriginum [Latin]
Lopac-L-3791
Lopac0_000688
MLS000069685
MLS000759486
MLS001077325
MolPort-003-666-744
NCGC00015605-01
NCGC00015605-02
NCGC00015605-06
NCGC00015605-08
NCGC00022936-02
NCGC00022936-04
NCGC00022936-05
NSC746307
SAM001246697
SMP2_000303
SMR000058464
STK628377
Tocris-1611
UNII-U3H27498KS
ZINC00013156
lamotrigine
5
DopamineapprovedPhase 2, Phase 3375951-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
6
Methylphenidateapproved, investigationalPhase 2, Phase 3373113-45-14158
Synonyms:
.alpha.-Phenyl-2-piperidineacetic acid methyl ester
113-45-1
2-Piperidineacetic acid, .alpha.-phenyl-, methyl ester
2-Piperidineacetic acid, alpha-phenyl-, methyl ester
298-59-9 (hydrochloride)
4311/B Ciba
AC1L1HJM
C 4311
C07196
CHEBI:6887
CHEMBL796
CID4158
Calocain
Centedein
Centedrin
Centedrine
Centredin
Concerta
D-Methylphenidate HCl
D04999
DB00422
DB06701
DEA No. 1724
Daytrana
Daytrana (TN)
EINECS 204-028-6
Focalin
Focalin XR
HSDB 3126
L001307
LS-565
METHYLPHENIDATE (SEE ALSO: METHYLPHENIDATE HYDROCHLORIDE, CAS 298-59-9, NTPNO 10266-R)
MPH
Meridil
Metadate
Metadate CD
Metadate ER
MethyPatch
Methyl (2-phenyl-2-(2-piperidyl)acetate)
Methyl alpha-phenyl-alpha-(2-piperidyl)acetate
Methyl alpha-phenyl-alpha-2-piperidinylacetate
Methyl phenidate
 
Methyl phenidyl acetate
Methyl phenidylacetate
Methylfenidan
Methylin
Methylin ER
Methylofenidan
Methylphen
Methylphenidan
Methylphenidate
Methylphenidate (USAN/INN)
Methylphenidate HCl
Methylphenidate [INN:BAN]
Methylphenidate hydrochloride
Methylphenidatum
Methylphenidatum [INN-Latin]
Methylphenidylacetate hydrochloride
Methypatch
Metilfenidat hydrochloride
Metilfenidato
Metilfenidato [INN-Spanish]
Metilfenidato [Italian]
MolPort-001-779-620
NCI-C56280
PMS-Methylphenidate
Phenidylate
Plimasine
Riphenidate
Ritalin
Ritalin LA
Ritalin SR
Ritalin hydrochloride
Ritalin-SR
Ritaline
Ritcher Works
Ritcher works
Tsentedrin
UNII-207ZZ9QZ49
alpha-Phenyl-2-piperidineacetic acid methyl ester
alpha-Phenyl-alpha-(2-piperidyl)acetic acid methyl ester
d-methylphenidate HCl
methyl 2-phenyl-2-piperidin-2-ylacetate
methyl phenyl(piperidin-2-yl)acetate
methylphenidate
nchembio.2007.55-comp28
7
FesoterodineapprovedPhase 360286930-02-7, 286930-03-86918558
Synonyms:
FESO
 
Fesoterodine
Toviaz
8
TamoxifenapprovedPhase 3, Phase 238010540-29-12733526
Synonyms:
(Z)-1-(p-Dimethylaminoethoxyphenyl)-1,2-diphenyl-1-butene
(Z)-2-(4-(1,2-Diphenyl-1-butenyl)phenoxy)-N,N-dimethylethanamine
(Z)-2-(4-(1,2-diphenylbut-1-enyl)phenoxy)-N,N-dimethylethanamine
(Z)-2-(Para-(1,2-diphenyl-1-butenyl)phenoxy)-N,N-dimethylamine
(Z)-2-(para-(1,2-Diphenyl-1-butenyl)phenoxy)-N,N-dimethylamine (IUPAC)
(Z)-2-[4-(1,2)-DIPHENYL-1-BUTENYL)-PHENOXY]-N,N-DIMETHYLETHANAMINE
(Z)-2-[p-(1,2-Diphenyl-1-butenyl)phenoxy]-N,N-dimethylethylamine
,citrate
1-P-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-Para-beta-dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-p-.beta.-Dimethylamino-ethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-p-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-para-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
10540-29-1
1ya4
2-[4-[(Z)-1,2-diphenylbut-1-enyl]phenoxy]-N,N-dimethylethanamine
2-{4-[(1Z)-1,2-diphenylbut-1-en-1-yl]phenoxy}-N,N-dimethylethanamine
54965-24-1 (citrate)
AC1MBZ3R
Apo-Tamox
Apo-tamox
BIDD:ER0008
BIDD:GT0009
BIDD:PXR0003
BPBio1_000278
BRD-K93754473-001-02-9
BRD-K93754473-048-05-3
BSPBio_000252
BSPBio_001150
BSPBio_001982
C07108
C26H29NO
CCRIS 3275
CHEBI:41774
CHEMBL83
CID2733526
Citofen
Crisafeno
D08559
DB00675
Diemon
EINECS 234-118-0
Gen-Tamoxifen
Gen-tamoxifen
HMS1362J11
HMS1792J11
HMS1990J11
HMS2090N08
HSDB 6782
ICI 47699
ICI-46,474
ICI-47699
IDI1_000258
IDI1_002170
Istubol
Kessar
L024126
LS-393
Lopac0_001203
MLS001332535
MLS001332536
MolPort-003-850-384
 
NCGC00024928-01
NCGC00024928-03
NCGC00024928-04
NCGC00024928-05
NCGC00024928-07
NCGC00024928-08
NCGC00024928-09
NCGC00024928-12
NSC727681
Noltam
Nolvadex
Nolvadex-D
Nourytam
Novaldex
Novo-Tamoxifen
Oncomox
PMS-Tamoxifen
Pms-Tamoxifen
Prestwick2_000146
Prestwick3_000146
QTL1_000079
Retaxim
SMR000059172
ST50511785
Spectrum5_001417
Spectrum5_002043
T5648_SIGMA
TAMOXIFEN (TAMOXIFEN CITRATE (54965-24-1))
TRANS FORM OF TAMOXIFEN
Tamizam
Tamofen
Tamone
Tamoplex (TN)
Tamoxasta
Tamoxen
Tamoxifen
Tamoxifen (INN)
Tamoxifen (TN)
Tamoxifen (Z)
Tamoxifen Citrate
Tamoxifen [INN:BAN]
Tamoxifen and its salts
Tamoxifene
Tamoxifene [INN-French]
Tamoxifeno
Tamoxifeno [INN-Spanish]
Tamoxifenum
Tamoxifenum [INN-Latin]
Tamoxifène
Tocris-0999
Tomaxithen
Trans-Tamoxifen
UNII-094ZI81Y45
UPCMLD-DP027
Valodex
Zemide
cMAP_000044
nchembio.140-comp7
nchembio.76-comp1
nchembio732-comp3
tamoxifen
trans-2-[4-(1,2-Diphenyl-1-butenyl)phenoxy]-N,N-dimethylethylamine
trans-Tamoxifen
9
Capecitabineapproved, investigationalPhase 3, Phase 21296154361-50-960953
Synonyms:
(1-(5-Deoxy-beta-D-ribofuranosyl)-5-fluoro-1,2-dihydro-2-oxo-4-pyrimidinyl)-carbamic acid pentyl ester
154361-50-9
158798-73-3
5'-Deoxy-5-fluoro-N-((pentyloxy)carbonyl)cytidine
5'-deoxy-5-fluoro-N-[(pentyloxy)carbonyl]cytidine
AC1L1U83
AC1Q4KU8
Ambap154361-50-9
C110904
C12650
C15H22FN3O6
CAPE
CAPECITABINE
CHEBI:31348
CHEMBL1773
CID60953
Capecitabin
Capecitabina
Capecitabine (JAN/USAN/INN)
Capecitabine [USAN]
Capecitabinum
Capecitibine
Capiibine
Carbamic acid, (1-(5-deoxy-beta-D-ribofuranosyl)-5-fluoro-1,2-dihydro-2-oxo-4-pyrimidinyl)-, pentyl ester
Caxeta
 
D01223
DB01101
FT-0082472
HSDB 7656
LS-59070
MolPort-005-938-254
N(4)-Pentyloxycarbonyl-5'-deoxy-5-fluorocytidine
Pentyl 1-(5-deoxy-beta-D-ribofuranosyl)-5-fluoro-1,2-dihydro-2-oxo-4-pyrimidinecarbamate
Pentyl [1-(5-deoxy-beta-D-ribofuranosyl)-5-fluoro-2-oxo-1,2-dihydropyrimidin-4-yl]carbamate
R-340
R340
RG-340
Ro 09-1978
Ro 09-1978/000
Ro-09-1978
Ro-09-1978/000
S1156_Selleck
UNII-6804DJ8Z9U
Xabine
Xeloda
Xeloda (TN)
Xeloda, Captabin, Capecitabine
ZINC03806413
capecitabina
capecitabine
capecitabinum
pentyl N-[1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-methyloxolan-2-yl]-5-fluoro-2-oxopyrimidin-4-yl]carbamate
10
Vinorelbineapproved, investigationalPhase 3, Phase 2, Phase 137171486-22-160780, 44424639
Synonyms:
5'-Noranhydrovinblastine
71486-22-1
AC1L1KVK
AC1L1TWQ
AC1L75Q4
ANX-530
Ambap71486-22-1
BIDD:PXR0186
C45H54N4O8
CHEBI:480999
CHEMBL607994
CID355119
CID5311497
CID5672
CID60780
CID6426842
D08680
DB00361
Eunades
Exelbine
HMS2090E13
HSDB 7665
I06-0084
I06-0085
KW 2307
KW 2307 base
KW-2307
 
LS-97533
MolPort-006-822-661
MolPort-006-823-869
NCGC00165966-02
NVB
Navelbine
Navelbine (TN)
Navelbine Base
Navelbine base
Nor-5'-anhydrovinblastine
SDP-012
UNII-Q6C979R91Y
Vinorelbin
Vinorelbina
Vinorelbina [Spanish]
Vinorelbine
Vinorelbine (INN)
Vinorelbine Bitartrate
Vinorelbine Ditartarate
Vinorelbine Ditartrate
Vinorelbine Tartrate
Vinorelbine [INN:BAN]
Vinorelbine ditartrate
Vinorelbine tartrate
Vinorelbinum
Vinorelbinum [Latin]
methyl (2b,3b,4b,5a,12b,19a)-4-(acetyloxy)-15-[(6R,8S)-4-ethyl-8-(methoxycarbonyl)-1,3,6,7,8,9-hexahydro-2,6-methanoazecino[4,3-b]indol-8-yl]-3-hydroxy-16-methoxy-1-methyl-6,7-didehydroaspidospermidine-3-carboxylate
methyl (2beta,3beta,4beta,5alpha,12beta,19alpha)-4-acetoxy-15-[(6R,8S)-4-ethyl-8-(methoxycarbonyl)-1,3,6,7,8,9-hexahydro-2,6-methanoazecino[4,3-b]indol-8-yl]-3-hydroxy-16-methoxy-1-methyl-6,7-didehydroaspidospermidine-3-carboxylate
vinorelbine
11
Dehydroepiandrosteroneapproved, nutraceuticalPhase 2, Phase 39553-43-09860744
Synonyms:
(+)-Dehydroisoandrosterone
(3-beta)-3-Hydroxyandrost-5-en-17-one
(3beta)-3-hydroxy-Androst-5-en-17-one
(3beta,16alpha)-3,16-dihydroxy-androst-5-en-17-one
17-Chetovis
17-Hormoforin
3-beta-Hydroxy-5-androsten-17-one
3-beta-Hydroxyandrost-5-en-17-one
3b-Hydroxy-D5-androsten-17-one
3b-Hydroxyandrost-5-en-17-one
3beta-Hydroxy-D5-androsten-17-one
3beta-Hydroxyandrost-5-en-17-one
3beta-hydroxy-5-androsten-17-one
3beta-hydroxy-Androst-5-en-17-one
3beta-hydroxyandrost-5-en-17-one
3β-hydroxyandrost-5-en-17-one
5,6-Dehydroisoandrosterone
5,6-Didehydroisoandrosterone
5-Androsten-3-beta-ol-17-one
5-Androsten-3b-ol-17-one
5-Androsten-3beta-ol-17-one
5-DHEA
5-Dehydro-Epiandrosterone
 
5-Dehydroepiandrosterone
5-dehydroepiandrosterone
Andrestenol
Androst-5-ene-3b-ol-17-one
Androst-5-ene-3beta-ol-17-one
Androsten-3beta-ol-17-one
Androstenolone
Astenile
D5-Androsten-3b-ol-17-one
D5-Androsten-3beta-ol-17-one
DHEA
Deandros
Dehydro-epi-androsterone
Dehydroandrosterone
Dehydroepiandrosterone
Dehydroisoandrosterone
Diandron
Diandrone
Hydroxyandrostenone
Prasterona
Prasterone
Prasteronum
Prestara
Psicosterone
trans-Dehydroandrosterone
12
Docetaxelapproved, investigational, Approved May 1996Phase 3, Phase 2, Phase 11918114977-28-5148124, 9877265
Synonyms:
(2aR,4S,4aS,6R,9S,11S,12S,12aR,12bS)-12b-(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,6,11-trihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca[3,4]benz[1,2-b]oxet-9-yl (aR,bS)-b-[[(1,1-dimethylethoxy)carbonyl]amino]-a-hydroxybenzenepropanoate
(2alpha,5beta,7beta,10beta,13alpha)-4-(acetyloxy)-13-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7,10-trihydroxy-9-oxo-5,20-epoxytax-11-en-2-yl benzoate
01885_FLUKA
114977-28-5
4-(Acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
4-(acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
AC-383
AC1L3WHJ
ANX-514
BIND-014
C11231
CHEBI:4672
CHEMBL92
CID148124
D07866
DB01248
Docetaxel
Docetaxel (INN)
Docetaxel anhydrous
Docetaxel, Trihydrate
EmDOC
 
HMS2089K08
InChI=1/C43H53NO14/c1-22-26(55-37(51)32(48)30(24-15-11-9-12-16-24)44-38(52)58-39(3,4)5)20-43(53)35(56-36(50)25-17-13-10-14-18-25)33-41(8,34(49)31(47)29(22)40(43,6)7)27(46)19-28-42(33,21-54-28)57-23(2)45/h9-18,26-28,30-33,35,46-48,53H,19-21H2,1-8H3,(H,44,5
MolPort-003-847-005
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-Boc-10-deacetyl taxol
NSC-628503
PSMA-targeted docetaxel nanoparticle
RP-56976
SDP-014
TXL
Taxotere
Taxotere (TN)
Taxotere(R)
XRP-6976L
docetaxel
docetaxel 114977-28-5
nchembio.188-comp8
nchembio.2007.34-comp7
nchembio.573-comp11
nchembio853-comp8
13
Lapatinibapproved, investigational, Approved March 2007Phase 3, Phase 1, Phase 2296231277-92-2, 388082-78-8208908, 9941095
Synonyms:
1xkk
231277-92-2
388082-78-8
4-[[3-Chloro-4-(3-fluorobenzyloxy)phenyl]amino]-6-[5-[[(2-methanesulfonylethyl)amino]methyl]furan-2-yl]quinazoline
AB1004631
AC-1314
AC1L4LL4
AKOS005145766
CHEBI:49603
CHEMBL1201179
CHEMBL554
CID11557040
CID208908
D04024
D08108
DB01259
DB02584
EN002712
FMM
GSK 572016
GSK572016
GW 572016
GW 572016X
GW-2016
GW-572016
GW-572016F
GW2016
GW572016
HMS2089H10
I01-1247
 
Kinome_3684
Kinome_3685
LAPATINIB DITOSYLATE MONOHYDRATE
LS-187029
LS-187771
Lapatinib
Lapatinib (INN)
Lapatinib Ditosylate
Lapatinib [INN]
Lapatinib ditosylate
Lapatinib ditosylate (USAN)
Lapatinib tosilate hydrate
Lapatinib tosilate hydrate (JAN)
Lapatinib, Tykerb, GW572016
N-(3-Chloro-4-((3-fluorophenyl)methoxy)phenyl)-6-(5-((2-methylsulfonylethylamino)methyl)-2-furyl)quinazolin-4-amine
N-(3-Chloro-4-{[(3-fluorophenyl)methyl]oxy}phenyl)-6-[5-({[2-(methylsulfonyl)ethyl]amino}methyl)-2-furanyl]-4-quinazolinamine
N-(3-chloro-4-((3-Fluorophenyl)methoxy)phenyl)-6-(5-(((2-(methylsulfonyl)ethyl)amino)methyl)-2-furanyl)-4-quinazolinamine
N-[3-chloro-4-[(3-fluorophenyl)methoxy]phenyl]-6-[5-[(2-methylsulfonylethylamino)methyl]furan-2-yl]quinazolin-4-amine
N-{3-CHLORO-4-[(3-FLUOROBENZYL)OXY]PHENYL}-6-[5-({[2-(METHYLSULFONYL)ETHYL]AMINO}METHYL)-2-FURYL]-4-QUINAZOLINAMINE
N-{3-chloro-4-[(3-fluorobenzyl)oxy]phenyl}-6-[5-({[2-(methylsulfonyl)ethyl]amino}methyl)-2-furyl]-4-quinazolinamine
NCGC00167507-01
NSC745750
TL80090051
Tycerb
Tykerb
Tykerb (TN)
Tyverb
UNII-0VUA21238F
lapatinib
lapatinib ditosylate
nchembio866-comp20
14MaytansinePhase 3, Phase 2, Phase 168
15HormonesPhase 3, Phase 1, Phase 213979
16MitogensPhase 2, Phase 3, Phase 11526
17Ado-trastuzumab emtansinePhase 3, Phase 2, Phase 164
18Antineoplastic Agents, PhytogenicPhase 3, Phase 2, Phase 15420
19Antimitotic AgentsPhase 3, Phase 2, Phase 15498
20taxanePhase 3, Phase 2, Phase 1344
21Albumin-Bound PaclitaxelPhase 3, Phase 2, Phase 12757
22Anti-Infective AgentsPhase 3, Phase 1, Phase 221402
23Protein Kinase InhibitorsPhase 3, Phase 1, Phase 23612
24Antiviral AgentsPhase 3, Phase 1, Phase 29732
25AcyclovirPhase 3178
26Aromatase InhibitorsPhase 3, Phase 2807
27Cholinergic AntagonistsPhase 31658
28Prolactin Release-Inhibiting FactorsPhase 3, Phase 274
29Cholinergic AgentsPhase 33846
30Muscarinic AntagonistsPhase 31134
31AnticonvulsantsPhase 32620
32Excitatory Amino AcidsPhase 3, Phase 21297
33Neurotransmitter AgentsPhase 3, Phase 217734
34Excitatory Amino Acid AntagonistsPhase 3, Phase 21282
35Diuretics, Potassium SparingPhase 3, Phase 21827
36calcium channel blockersPhase 31940
37Calcium, DietaryPhase 35525
38Sodium Channel BlockersPhase 3, Phase 21515
39Central Nervous System StimulantsPhase 2, Phase 32132
40Adjuvants, ImmunologicPhase 2, Phase 32484
41AntimetabolitesPhase 3, Phase 2, Phase 111774
42Neurotransmitter Uptake InhibitorsPhase 2, Phase 33464
43Dopamine Uptake InhibitorsPhase 2, Phase 31305
44Dopamine AgentsPhase 2, Phase 33759
45Antimetabolites, AntineoplasticPhase 3, Phase 2, Phase 17171
46DHEA (Dehydroepiandrosterone)NutraceuticalPhase 2, Phase 395
47
ZincapprovedPhase 222317440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
48
OsimertinibapprovedPhase 2521421373-65-071496458
Synonyms:
Mereletinib
 
N-(2-{[2-(dimethylamino)ethyl](methyl)amino}-4-methoxy-5-{[4-(1-methyl-1H-indol-3-yl)pyrimidin-2-yl]amino}phenyl)prop-2-enamide
Tagrisso
mereletinib
49
Anastrozoleapproved, investigationalPhase 2272120511-73-12187
Synonyms:
.alpha.,alpha.,.alpha.',.alpha.'-tetramethyl-5(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
1,3-benzenediacetonitrile, a, a, a', a'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)
120511-73-1
2,2'-(5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene)bis(2-methylpropionitrile)
2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene]bis(2-methylpropanenitrile)
2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)benzene-1,3-diyl]bis(2-methylpropanenitrile)
2-[3-(2-cyanopropan-2-yl)-5-(1,2,4-triazol-1-ylmethyl)phenyl]-2-methylpropanenitrile
AC-4234
AC1L1D49
Anastrazole
Anastrole
Anastrozol
Anastrozole (JAN/USAN/INN)
Anastrozole [USAN:INN:BAN]
Arimidex
Arimidex (TN)
Arimidex (Zeneca)
Arimidex, Anastrozole
Asiolex
Astra brand of anastrozole
AstraZeneca brand of anastrozole
C08159
C090450
C17H19N5
CHEBI:2704
CHEMBL1399
CID2187
CPD000466301
 
D00960
DB01217
HMS2052M11
HMS2089N10
HSDB 7462
I06-0021
ICI D1033
ICI-D 1033
ICI-D1033
LS-29563
MLS000759396
MLS001424217
MolPort-005-933-078
NCGC00164619-01
NSC719344
S1188_Selleck
SAM001246525
SBB066057
SMR000466301
UNII-2Z07MYW1AZ
ZD 1033
ZD-1033
ZD1033
ZINC00000941
Zeneca ZD 1033
Zeneca brand of anastrozole
alpha,alpha,Alpha',alpha'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
alpha,alpha,alpha',alpha'-Tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
anastrazole
anastrozole
50
NorethindroneapprovedPhase 29368-22-46230
Synonyms:
(17-alpha)-17-Hydroxy-19-norpregn-4-en-20-yn-3-one
(17alpha)-17-Ethynyl-17-hydroxyestra-4,8(14),9-trien-3-one
17-Ethinyl-19-nor-testosterone
17-Ethinyl-19-nortestosterone
17-Ethynyl-17-hydroxyestr-4-en-3-one
17-Ethynyl-17-hydroxyestr-4-en-3-one (ACD/Name 4.0)
17-Ethynyl-17beta-hydroxyestr-4-en-3-one
17-Ethynyl-19-Nortestosterone
17-Hydroxy-(17alpha)-19-Norpregn-4-en-20-yn-3-one
17-Hydroxy-17-alpha-19-Norpregn-4-en-20-yn-3-one
17-Hydroxy-17-alpha-19-norpregn-4-en-20-yn-3-one
17-Hydroxy-19-Nor-17alpha-pregn-4-en-20-yn-3-one
17-Hydroxy-19-nor-17-alpha-pregn-4-en-20-yn-3-one
17-Hydroxy-19-nor-17alpha-pregn-4-en-20-yn-3-one
17-alpha-Ethynyl-17-beta-hydroxy-4-estren-3-one
17-alpha-Ethynyl-17-hydroxy-4-estren-3-one
17-alpha-Ethynyl-19-norandrost-4-en-17-beta-ol-3-one
17-alpha-Ethynyl-19-nortestosterone
17-alpha-Ethynyl-4-estren-17-ol-3-one
17-beta-Hydroxy-19-norpregn-4-en-20-yn-3-one
17-ethynyl-17beta-hydroxyestr-4-en-3-one
17.alpha.-Ethinyl-19-nortestosterone
17.alpha.-Ethynyl-19-nortestosterone
17.alpha.-Ethynyl-4-estren-17-ol-3-one
17alpha-Ethinyl-17alpha-Ethinyl-19-nortestosterone
17alpha-Ethinyl-19-Nortestosterone
17alpha-Ethinyl-19-nortestosterone
17alpha-Ethinylestra-4-en-17beta-ol-3-one
17alpha-Ethynyl-17-hydroxy-4-estren-3-one
17alpha-Ethynyl-17-hydroxyest-4-en-3-one
17alpha-Ethynyl-17beta-hydroxy-19-norandrost-4-en-3-one
17alpha-Ethynyl-17beta-hydroxyestr-4-en-3-one
17alpha-Ethynyl-19-nor-4-androsten-17beta-ol-3-one
17alpha-Ethynyl-19-norandrost-4-en-17beta-ol-3-one
17alpha-Ethynyl-19-nortestosterone
17alpha-Ethynyl-3-oxo-4-estren-17beta-ol
17alpha-Ethynyl-4-estren-17-ol-3-one
17alpha-ethynyl-17-hydroxy-Estr-4-en-3-one
17alpha-ethynyl-17beta-hydroxy-19-Norandrost-4-en-3-one
17alpha-pregn-4-en-20-yn-3-one
17beta-Hydroxy-17alpha-ethynylestr-4-en-3-one
17beta-Hydroxy-19-norpregn-4-en-20-yn-3-one
17α-ethinyl-19-nortestosterone
19-Nor-17-alpha-ethynyl-17-beta-hydroxy-4-androsten-3-one
19-Nor-17-alpha-ethynylandrosten-17-beta-ol-3-one
19-Nor-17-alpha-ethynyltestosterone
19-Nor-17-ethinyl testosterone
19-Nor-17-ethinyltestosterone
19-Nor-17.alpha.-ethynyltestosterone
19-Nor-17alpa-ethynyltestosterone
19-Nor-17alpha-Ethynyl-17beta-hydroxy-4-androsten-3-one
19-Nor-17alpha-Ethynylandrosten-17beta-ol-3-one
19-Nor-17alpha-ethynyl-17beta-hydroxy-4-androsten-3-one
19-Nor-17alpha-ethynylandrosten-17beta-ol-3-one
19-Nor-17alpha-ethynyltestosterone
19-Nor-ethindrone
19-Nor-ethinyl--4,5-testosterone
19-Norethindrone
19-Norethinyltestosterone
19-Norethisterone
19-nor-17α-ethynyltestosterone
4-Estren-17alpha-ethynyl-17beta-ol-3-one
46525_FLUKA
46525_RIEDEL
68-22-4
A3564/0151191
AC-11100
AC1L1IDS
AC1L1M2R
AC1NWAOX
AC1O5EOU
AC1Q6OG5
AI3-26422
AKOS004119895
AR-1C1071
ARONIS24281
Activella
Anhydrohydroxynorprogesterone
Anovulatorio
Anovule
BB_NC-0600
BPBio1_000074
BRD-A39415247-001-02-1
BRD-K92073408-001-03-3
BRN 1915671
BSPBio_000066
BSPBio_002101
Brevicon
Brevinor
Brevinor 21
Brevinor 28
Brevinor-1 21
Brevinor-1 28
C05028
CCRIS 484
CHEBI:7627
CHEMBL1162
CID4536
CID5702093
CID6230
CID6432649
CPD000499579
Camila
Camila (TN)
Ciclovulan
Conceplan
Conludaf
Conludag
D00182
DB00717
Demulen
DivK1c_000553
EINECS 200-681-6
ENT
Errin
Estrinor
Ethinyl-19-nortestosterone
Ethinylnortestosterone
Ethynylmortestosterone
Ethynylnortestosterone
Gencept
Genora
Gestest
HMS1568D08
HMS1920B10
HMS2090D21
HMS2091J10
HMS501L15
HSDB 3370
I06-0104
 
IDI1_000553
Jenest
Jenest-28
KBio1_000553
KBio2_001491
KBio2_004059
KBio2_006627
KBio3_001601
KBioGR_000637
KBioSS_001491
LMST02030097
LS-97425
Loestrin
MLS001076679
MLS001163874
MLS001304093
Menzol
Microneth
Micronett
Micronor
Micronor (TN)
Micronovum
Milli
Mini-Pe
Mini-pill
Minovlar
MolPort-002-507-131
MolPort-002-509-542
MolPort-002-728-977
MolPort-003-861-444
N.E.E
N.E.E.
N0449
N4128_SIGMA
NCGC00178820-01
NCGC00179669-01
NET
NINDS_000553
NSC-9564
NSC9564
Nelova
Nodiol
Nor-Q.D
Nor-Q.D.
Nor-QD
Nora-BE
Noraethisteronum
Noralutin
Norcept
Norcept-E
Norcolut
Norcolute
Noresthisterone
Norethadrone
Norethin
Norethin 1/35 E
Norethin 1/50 M
Norethindirone
Norethindrone
Norethindrone (USP)
Norethindrone Norethisterone
Norethindrone [USAN]
Norethisteron
Norethisterone
Norethisterone (JP15)
Norethisterone [Progestins]
Norethisteronum
Norethisteronum [INN-Latin]
Norethyndron
Norethynodron
Norethynodrone
Noretisterona
Noretisterona [INN-Spanish]
Noretisterone
Noretisterone [DCIT]
Norfor
Norgestin
Noriday
Noriday 28
Norlutate
Norluten
Norlutin
Norluton
Normapause
Norpregneninlone
Norpregneninolone
Norpregneninotone
Oprea1_606355
Orlest
Ortho 1 35
Ortho 7 7 7
Ortho-Novum 1 35
Ortho-Novum 1 50
Ortho-Novum 7 7 7
Ovysmen 0.5 35
Ovysmen 1 35
Prestwick0_000253
Prestwick1_000253
Prestwick2_000253
Prestwick3_000253
Prestwick_646
Primolut N
Primolut-N
Primolut-N (TN)
Proluteasi
SAM002564223
SC 4640
SMR000499579
SMR000718762
SPBio_001052
SPBio_002285
SPECTRUM1500437
ST094767
STK730956
STOCK1N-04274
Spectrum2_001066
Spectrum3_000521
Spectrum4_000079
Spectrum5_001198
Spectrum_001011
Synphase
Synphasic 28
Tri-Norinyl
Triella
Trinovum 21
UNII-T18F433X4S
Utovlan
Utovlar
WLN: L E5 B666 OV MUTJ E FQ F1UU1 -A&F
ZINC03814419
component of Noriday
norethindrone

Interventional clinical trials:

(show top 50)    (show all 118)
idNameStatusNCT IDPhase
1Efficacy and Tolerance of AVAPS Mode in Myotonic DystrophyRecruitingNCT01530841Phase 4
2RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic DystrophyUnknown statusNCT00127582Phase 3
3A Study of Trastuzumab Emtansine (T-DM1) Plus Pertuzumab/Pertuzumab Placebo Versus Trastuzumab [Herceptin] Plus a Taxane in Patients With Metastatic Breast Cancer (MARIANNE)Unknown statusNCT01120184Phase 3
4Lamotrigine as Treatment of MyotoniaCompletedNCT01939561Phase 3
5Methylphenidate in Myotonic Dystrophy Type 1CompletedNCT01421992Phase 2, Phase 3
6Efficacy and Safety of DHEA for Myotonic DystrophyCompletedNCT00167609Phase 2, Phase 3
7A Study of Trastuzumab Emtansine Versus Capecitabine + Lapatinib in Participants With HER2-positive Locally Advanced or Metastatic Breast CancerCompletedNCT00829166Phase 3
8A Study of Trastuzumab Emtansine Versus Taxane in Participants With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Advanced Gastric CancerCompletedNCT01641939Phase 2, Phase 3
9A Study of Trastuzumab Emtansine in Comparison With Treatment of Physician's Choice in Participants With HER2-positive Breast Cancer Who Have Received at Least Two Prior Regimens of HER2-directed TherapyCompletedNCT01419197Phase 3
10Long-Term Open-Label Extension Trial for Subjects Completing the Phase 3 Trial of Fesoterodine (SP583) for the Treatment of Overactive Bladder SyndromeCompletedNCT00220402Phase 3
11A Multicenter Trial to Investigate Fesoterodine Sustained Release in Overactive Bladder SyndromeCompletedNCT00220363Phase 3
12Safety and Efficacy of a Violet Visible Light Blocking Intraocular Lens (IOL)CompletedNCT00747227Phase 3
13Phase 3 Clinical Study for the Treatment of Cold SoreCompletedNCT00769314Phase 3
14PD P 506 A-PDT Versus Placebo-PDT and Cryosurgery for the Treatment of AKCompletedNCT00308867Phase 3
15A Study of Trastuzumab Emtansine in Participants With Human Epidermal Growth Factor Receptor 2 (HER2) Positive Breast Cancer Who Have Received Prior Anti-HER2 And Chemotherapy-based TreatmentRecruitingNCT01702571Phase 3
16A Randomized, Open-label Phase III Trial to Evaluate the Efficacy and Safety of Pertuzumab Retreatment in Previously Pertuzumab, Trastuzuamb and Chemotherapy Treated Her2-Positive Metastatic Locally Advanced and Metastatic Breast Cancer(Study of Perjeta RRecruitingNCT02514681Phase 3
17Efficacy and Tolerance of Early Launching of Nocturnal Non InvasiveActive, not recruitingNCT01225614Phase 3
18A Study of Kadcyla (Trastuzumab Emtansine) Plus Perjeta (Pertuzumab) Following Anthracyclines in Comparison With Herceptin (Trastuzumab) Plus Perjeta and a Taxane Following Anthracyclines as Adjuvant Therapy in Patients With Operable HER2-Positive PrimaryActive, not recruitingNCT01966471Phase 3
19Safety and Efficacy Study of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) In Myotonic Dystrophy Type 1Unknown statusNCT00577577Phase 2
20A Study of Trastuzumab-MCC-DM1 in Patients With HER2- Positive Locally Advanced or Metastatic Breast CancerApproved for marketingNCT01120561Phase 2
21A Safety andTolerability Study of Multiple Doses of ISIS-DMPKRx in Adults With Myotonic Dystrophy Type 1CompletedNCT02312011Phase 1, Phase 2
22Effects of SomatoKine (Iplex)Recombinant Human Insulin-like Growth Factor-1/Recombinant Human Insulin-like Growth Factor-binding Protein-3 (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1)CompletedNCT00233519Phase 1, Phase 2
23Corrected QT Interval Effects of Trastuzumab Emtansine (T-DM1) in Patients With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Locally Advanced or Metastatic Breast Cancer and the Safety and Tolerability of Combined T-DM1 and Pertuzumab in PatieCompletedNCT00943670Phase 2
24A Study of Trastuzumab-Mcc-DM1 Administered Intravenously to Patients With HER2-Positive Metastatic Breast CancerCompletedNCT00679211Phase 2
25A Study of Trastuzumab Emtansine (Trastuzumab-MCC-DM1) Administered Intravenously to Patients With Human Epidermal Growth Factor Receptor 2 (HER2)-Positive Metastatic Breast CancerCompletedNCT00509769Phase 2
26A Study of Trastuzumab Emtansine (Trastuzumab-MCC-DM1, T-DM1) in Combination With Pertuzumab Administered to Patients With Human Epidermal Growth Factor Receptor-2 (HER2)-Positive Locally Advanced or Metastatic Breast Cancer Who Have Previously Received TCompletedNCT00875979Phase 1, Phase 2
27A Study of the Efficacy and Safety of Trastuzumab Emtansine (Trastuzumab-MCC-DM1) vs. Trastuzumab (Herceptin®) and Docetaxel (Taxotere®) in Patients With Metastatic HER2-positive Breast Cancer Who Have Not Received Prior Chemotherapy for Metastatic DiseasCompletedNCT00679341Phase 2
28A Study of Trastuzumab Emtansine (T-DM1) Sequentially With Anthracycline-based Chemotherapy, as Adjuvant or Neoadjuvant Therapy for Patients With Early Stage Herceptin (HER)2-positive Breast CancerCompletedNCT01196052Phase 2
29MLN2704 in Subjects With Metastatic Androgen-Independent Prostate CancerCompletedNCT00070837Phase 1, Phase 2
30A Study of Trastuzumab Emtansine, Paclitaxel, and Pertuzumab in Patients With HER2-Positive, Locally Advanced or Metastatic Breast CancerCompletedNCT00951665Phase 1, Phase 2
31Study of Tideglusib in Adolescent and Adult Patients With Myotonic DystrophyRecruitingNCT02858908Phase 2
32A Dose-Escalation Study Evaluating the Combination of Trastuzumab Emtansine (T-DM1) With Neratinib in Women With Metastatic HER2-Positive Breast CancerRecruitingNCT02236000Phase 1, Phase 2
33T-DM1 vs Paclitaxel/Trastuzumab for Breast (ATEMPT Trial)RecruitingNCT01853748Phase 2
34T-DM1+Pertuzumab in Pre-OP Early-Stage HER2+ BRCARecruitingNCT02326974Phase 2
35HER2 Imaging Study to Identify HER2 Positive Metastatic Breast Cancer Patient Unlikely to Benefit From T-DM1RecruitingNCT01565200Phase 2
36Validity of HER2-amplified Circulating Tumor Cells to Select Metastatic Breast Cancer Considered HER2-negative for Trastuzumab-emtansine (T-DM1) Treatment.RecruitingNCT01975142Phase 2
37An Open-Label, Phase Ib/II Clinical Trial Of Cdk 4/6 Inhibitor, Ribociclib (Lee011), In Combination With Trastuzumab Or T-Dm1 For Advanced/Metastatic Her2-Positive Breast Cancer.RecruitingNCT02657343Phase 1, Phase 2
38Trastuzumab Emtansine in Treating Older Patients With Human Epidermal Growth Factor Receptor 2-Positive Stage I-III Breast CancerRecruitingNCT02414646Phase 2
39A Study to Evaluate the Efficacy and Safety of Trastuzumab Emtansine in Combination With Atezolizumab or Atezolizumab-Placebo in Participants With Human Epidermal Growth Factor-2 (HER2) Positive Locally Advanced or Metastatic Breast Cancer Who Have ReceivRecruitingNCT02924883Phase 2
40TDM1 With Abraxane and Lapatinib for Metastatic HER2 Positive Breast CancerRecruitingNCT02073916Phase 1, Phase 2
41Phase 2 Study of Standard Chemotherapy With Trastuzumab, Plus or Minus Pertuzumab, for Pre-treated Metastatic Breast CancerRecruitingNCT02229149Phase 2
42I-SPY 2 TRIAL: Neoadjuvant and Personalized Adaptive Novel Agents to Treat Breast CancerRecruitingNCT01042379Phase 2
43NEOADjuvant Aromatase Inhibitor and Pertuzumab/Trastuzumab for Women With Breast CancerRecruitingNCT02689921Phase 2
44NCI-MATCH: Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple MyelomaRecruitingNCT02465060Phase 2
45Estriol Treatment in Multiple Sclerosis (MS): Effect on CognitionRecruitingNCT01466114Phase 2
46Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1Active, not recruitingNCT01406873Phase 2
47A Prospective, Randomized Multicenter, Open-label Comparison of Preoperative Trastuzumab Emtansine (T-DM1) With or Without Standard Endocrine Therapy vs. Trastuzumab With Standard Endocrine Therapy Given for Twelve Weeks in Patients With Operable HER2+/HRActive, not recruitingNCT01745965Phase 2
48Trastuzumab & Pertuzumab Followed by T-DM1 in MBCActive, not recruitingNCT01835236Phase 2
49Elderly Metastatic Breast Cancer: Pertuzumab-Herceptin vs Pertuzumab-Herceptin-Metronomic Chemotherapy, Followed by T-DM1Active, not recruitingNCT01597414Phase 2
50A Study of Trastuzumab Emtansine in Patients With HER2 IHC-Positive, Locally Advanced or Metastatic Non-Small Cell Lung CancerActive, not recruitingNCT02289833Phase 2

Search NIH Clinical Center for Myotonic Dystrophy 1


Cochrane evidence based reviews: myotonic dystrophy

Genetic Tests for Myotonic Dystrophy 1

About this section

Genetic tests related to Myotonic Dystrophy 1:

id Genetic test Affiliating Genes
1 Steinert Myotonic Dystrophy Syndrome26
2 Myotonic Dystrophy Type 124 DMPK

Anatomical Context for Myotonic Dystrophy 1

About this section

MalaCards organs/tissues related to Myotonic Dystrophy 1:

35
Skeletal muscle, Heart, Eye, Smooth muscle, Testes, Brain, Prostate

Animal Models for Myotonic Dystrophy 1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Myotonic Dystrophy 1:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.0ATP2A1, CLCN1, DHCR7, DMPK, MBNL1, PRKCA

Publications for Myotonic Dystrophy 1

About this section

Articles related to Myotonic Dystrophy 1:

(show all 21)
idTitleAuthorsYear
1
Renal dysfunction can be a common complication in patients with myotonic dystrophy 1. (27538647)
2016
2
Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells. (27501221)
2016
3
Computational Investigation of RNA CUG Repeats Responsible for Myotonic Dystrophy 1. (26500461)
2015
4
Recurrent takotsubo syndrome in a patient with myotonic dystrophy 1. (25101654)
2014
5
Noncompaction predisposing for recurrent Takotsubo syndrome in myotonic dystrophy 1. (23890854)
2013
6
Beneficial effect of digitoxin for heart failure from noncompaction in myotonic dystrophy 1. (22475848)
2012
7
A myotonic dystrophy 1 patient complicated with placental adherence after miscarriage of one dichorionic diamniotic twin following her tenth in vitro fertilization and embryo transfer. (23011730)
2012
8
Gastroparesis in myotonic dystrophy 1. (21125412)
2011
9
The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease. (22131273)
2011
10
Implantable loop recorders in myotonic dystrophy 1. (21880381)
2011
11
Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2. (20220122)
2010
12
Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells. (20479119)
2010
13
Pneumosinus dilatans and hypercalcification of the falx and ligamentum petroclinoideum in myotonic dystrophy 1. (20220451)
2010
14
New analysis method of myotonic dystrophy 1 based on quantitative fluorescent polymerase chain reaction. (19715468)
2009
15
Myotonic dystrophy 1 in the nervous system: from the clinic to molecular mechanisms. (17549748)
2008
16
Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1. (18583094)
2008
17
Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. (17936705)
2007
18
Asymptomatic, progressive electrocardiographic abnormalities over twelve years in myotonic dystrophy 1. (17982974)
2007
19
Altered expression of CUG binding protein 1 mRNA in myotonic dystrophy 1: possible RNA-RNA interaction. (15099703)
2004
20
Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers. (11527424)
2001
21
Independent regulation of the myotonic dystrophy 1 locus genes postnatally and during adult skeletal muscle regeneration. (10748037)
2000

Variations for Myotonic Dystrophy 1

About this section

Clinvar genetic disease variations for Myotonic Dystrophy 1:

5 (show all 141)
id Gene Variation Type Significance SNP ID Assembly Location
1DMPKNM_004409.4(DMPK): c.*224_*226[102]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
2DMPKNM_004409.4(DMPK): c.*224_*226[103]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
3DMPKNM_004409.4(DMPK): c.*224_*226[107]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
4DMPKNM_004409.4(DMPK): c.*224_*226[1080]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
5DMPKNM_004409.4(DMPK): c.*224_*226[1140]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
6DMPKNM_004409.4(DMPK): c.*224_*226[1142]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
7DMPKNM_004409.4(DMPK): c.*224_*226[1189]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
8DMPKNM_004409.4(DMPK): c.*224_*226[122]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
9DMPKNM_004409.4(DMPK): c.*224_*226[123]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
10DMPKNM_004409.4(DMPK): c.*224_*226[1236]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
11DMPKNM_004409.4(DMPK): c.*224_*226[124]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
12DMPKNM_004409.4(DMPK): c.*224_*226[127]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
13DMPKNM_004409.4(DMPK): c.*224_*226[131]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
14DMPKNM_004409.4(DMPK): c.*224_*226[132]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
15DMPKNM_004409.4(DMPK): c.*224_*226[134]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
16DMPKNM_004409.4(DMPK): c.*224_*226[135]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
17DMPKNM_004409.4(DMPK): c.*224_*226[142]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
18DMPKNM_004409.4(DMPK): c.*224_*226[146]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
19DMPKNM_004409.4(DMPK): c.*224_*226[1502]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
20DMPKNM_004409.4(DMPK): c.*224_*226[158]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
21DMPKNM_004409.4(DMPK): c.*224_*226[160]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
22DMPKNM_004409.4(DMPK): c.*224_*226[168]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
23DMPKNM_004409.4(DMPK): c.*224_*226[1681]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
24DMPKNM_004409.4(DMPK): c.*224_*226[169]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
25DMPKNM_004409.4(DMPK): c.*224_*226[175]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
26DMPKNM_004409.4(DMPK): c.*224_*226[181]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
27DMPKNM_004409.4(DMPK): c.*224_*226[182]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
28DMPKNM_004409.4(DMPK): c.*224_*226[194]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
29DMPKNM_004409.4(DMPK): c.*224_*226[195]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
30DMPKNM_004409.4(DMPK): c.*224_*226[197]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
31DMPKNM_004409.4(DMPK): c.*224_*226[214]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
32DMPKNM_004409.4(DMPK): c.*224_*226[216]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
33DMPKNM_004409.4(DMPK): c.*224_*226[225]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
34DMPKNM_004409.4(DMPK): c.*224_*226[229]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
35DMPKNM_004409.4(DMPK): c.*224_*226[232]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
36DMPKNM_004409.4(DMPK): c.*224_*226[235]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
37DMPKNM_004409.4(DMPK): c.*224_*226[236]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
38DMPKNM_004409.4(DMPK): c.*224_*226[238]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
39DMPKNM_004409.4(DMPK): c.*224_*226[241]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
40DMPKNM_004409.4(DMPK): c.*224_*226[255]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
41DMPKNM_004409.4(DMPK): c.*224_*226[256]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
42DMPKNM_004409.4(DMPK): c.*224_*226[260]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
43DMPKNM_004409.4(DMPK): c.*224_*226[261]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
44DMPKNM_004409.4(DMPK): c.*224_*226[264]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
45DMPKNM_004409.4(DMPK): c.*224_*226[265]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
46DMPKNM_004409.4(DMPK): c.*224_*226[271]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
47DMPKNM_004409.4(DMPK): c.*224_*226[281]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
48DMPKNM_004409.4(DMPK): c.*224_*226[303]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
49DMPKNM_004409.4(DMPK): c.*224_*226[307]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
50DMPKNM_004409.4(DMPK): c.*224_*226[313]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
51DMPKNM_004409.4(DMPK): c.*224_*226[318]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
52DMPKNM_004409.4(DMPK): c.*224_*226[327]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
53DMPKNM_004409.4(DMPK): c.*224_*226[333]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
54DMPKNM_004409.4(DMPK): c.*224_*226[339]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
55DMPKNM_004409.4(DMPK): c.*224_*226[345]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
56DMPKNM_004409.4(DMPK): c.*224_*226[347]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
57DMPKNM_004409.4(DMPK): c.*224_*226[351]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
58DMPKNM_004409.4(DMPK): c.*224_*226[352]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
59DMPKNM_004409.4(DMPK): c.*224_*226[353]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
60DMPKNM_004409.4(DMPK): c.*224_*226[354]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
61DMPKNM_004409.4(DMPK): c.*224_*226[364]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
62DMPKNM_004409.4(DMPK): c.*224_*226[371]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
63DMPKNM_004409.4(DMPK): c.*224_*226[372]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
64DMPKNM_004409.4(DMPK): c.*224_*226[373]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
65DMPKNM_004409.4(DMPK): c.*224_*226[375]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
66DMPKNM_004409.4(DMPK): c.*224_*226[376]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
67DMPKNM_004409.4(DMPK): c.*224_*226[377]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
68DMPKNM_004409.4(DMPK): c.*224_*226[391]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
69DMPKNM_004409.4(DMPK): c.*224_*226[395]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
70DMPKNM_004409.4(DMPK): c.*224_*226[397]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
71DMPKNM_004409.4(DMPK): c.*224_*226[398]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
72DMPKNM_004409.4(DMPK): c.*224_*226[407]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
73DMPKNM_004409.4(DMPK): c.*224_*226[421]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
74DMPKNM_004409.4(DMPK): c.*224_*226[435]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
75DMPKNM_004409.4(DMPK): c.*224_*226[436]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
76DMPKNM_004409.4(DMPK): c.*224_*226[437]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
77DMPKNM_004409.4(DMPK): c.*224_*226[440]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
78DMPKNM_004409.4(DMPK): c.*224_*226[448]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
79DMPKNM_004409.4(DMPK): c.*224_*226[449]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
80DMPKNM_004409.4(DMPK): c.*224_*226[455]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
81DMPKNM_004409.4(DMPK): c.*224_*226[46]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
82DMPKNM_004409.4(DMPK): c.*224_*226[461]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
83DMPKNM_004409.4(DMPK): c.*224_*226[462]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
84DMPKNM_004409.4(DMPK): c.*224_*226[482]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
85DMPKNM_004409.4(DMPK): c.*224_*226[490]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
86DMPKNM_004409.4(DMPK): c.*224_*226[50]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
87DMPKNM_004409.4(DMPK): c.*224_*226[501]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
88DMPKNM_004409.4(DMPK): c.*224_*226[505]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
89DMPKNM_004409.4(DMPK): c.*224_*226[508]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
90DMPKNM_004409.4(DMPK): c.*224_*226[513]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
91DMPKNM_004409.4(DMPK): c.*224_*226[52]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
92DMPKNM_004409.4(DMPK): c.*224_*226[53]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
93DMPKNM_004409.4(DMPK): c.*224_*226[536]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
94DMPKNM_004409.4(DMPK): c.*224_*226[539]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
95DMPKNM_004409.4(DMPK): c.*224_*226[54]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
96DMPKNM_004409.4(DMPK): c.*224_*226[541]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
97DMPKNM_004409.4(DMPK): c.*224_*226[542]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
98DMPKNM_004409.4(DMPK): c.*224_*226[56]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
99DMPKNM_004409.4(DMPK): c.*224_*226[562]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
100DMPKNM_004409.4(DMPK): c.*224_*226[563]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
101DMPKNM_004409.4(DMPK): c.*224_*226[583]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
102DMPKNM_004409.4(DMPK): c.*224_*226[586]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
103DMPKNM_004409.4(DMPK): c.*224_*226[59]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
104DMPKNM_004409.4(DMPK): c.*224_*226[593]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
105DMPKNM_004409.4(DMPK): c.*224_*226[594]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
106DMPKNM_004409.4(DMPK): c.*224_*226[60]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
107DMPKNM_004409.4(DMPK): c.*224_*226[609]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
108DMPKNM_004409.4(DMPK): c.*224_*226[614]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
109DMPKNM_004409.4(DMPK): c.*224_*226[62]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
110DMPKNM_004409.4(DMPK): c.*224_*226[64]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
111DMPKNM_004409.4(DMPK): c.*224_*226[640]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
112DMPKNM_004409.4(DMPK): c.*224_*226[65]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
113DMPKNM_004409.4(DMPK): c.*224_*226[666]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
114DMPKNM_004409.4(DMPK): c.*224_*226[68]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
115DMPKNM_004409.4(DMPK): c.*224_*226[688]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
116DMPKNM_004409.4(DMPK): c.*224_*226[69]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
117DMPKNM_004409.4(DMPK): c.*224_*226[71]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
118DMPKNM_004409.4(DMPK): c.*224_*226[72]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
119DMPKNM_004409.4(DMPK): c.*224_*226[721]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
120DMPKNM_004409.4(DMPK): c.*224_*226[74]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
121DMPKNM_004409.4(DMPK): c.*224_*226[75]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
122DMPKNM_004409.4(DMPK): c.*224_*226[758]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
123DMPKNM_004409.4(DMPK): c.*224_*226[76]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
124DMPKNM_004409.4(DMPK): c.*224_*226[780]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
125DMPKNM_004409.4(DMPK): c.*224_*226[80]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
126DMPKNM_004409.4(DMPK): c.*224_*226[814]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
127DMPKNM_004409.4(DMPK): c.*224_*226[816]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
128DMPKNM_004409.4(DMPK): c.*224_*226[82]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
129DMPKNM_004409.4(DMPK): c.*224_*226[823]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
130DMPKNM_004409.4(DMPK): c.*224_*226[83]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
131DMPKNM_004409.4(DMPK): c.*224_*226[84]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
132DMPKNM_004409.4(DMPK): c.*224_*226[88]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
133DMPKNM_004409.4(DMPK): c.*224_*226[887]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
134DMPKNM_004409.4(DMPK): c.*224_*226[92]NT expansionPathogenicrs786200945GRCh37Chr 19, 46273520: 46273522
135DMPKNM_004409.4(DMPK): c.*224_*226[93]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
136DMPKNM_004409.4(DMPK): c.*224_*226[96]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
137DMPKNM_004409.4(DMPK): c.*224_*226[98]NT expansionPathogenicrs786200945GRCh38Chr 19, 45770262: 45770264
138DMPKNM_001081563.2NT expansionPathogenicChr na, -1: -1
139DMPKNM_001081563.2NT expansionPathogenicChr na, -1: -1
140DMPKNM_001081560.2(DMPK): c.*224_*226CTG(51_?)NT expansionPathogenicGRCh37Chr 19, 46273463: 46273465
141DMPKNM_001081563.1: c.*224_226CTG(50-?)undetermined variantPathogenicChr na, -1: -1

Expression for genes affiliated with Myotonic Dystrophy 1

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LifeMap Discovery
Genes differentially expressed in tissues of Myotonic Dystrophy 1 patients vs. healthy controls: 34 (show all 15)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1MAFFv-maf avian musculoaponeurotic fibrosarcoma oncogene homolog FSkeletal Muscle-4.360.001
2COL21A1collagen, type XXI, alpha 1Skeletal Muscle+3.860.000
3COL4A3collagen, type IV, alpha 3 (Goodpasture antigen)Skeletal Muscle+3.810.000
4RARRES1retinoic acid receptor responder (tazarotene induced) 1Skeletal Muscle-3.530.003
5NNMTnicotinamide N-methyltransferaseSkeletal Muscle-3.500.000
6PRPF38Bpre-mRNA processing factor 38BSkeletal Muscle+3.480.000
7NEBnebulinSkeletal Muscle+3.420.000
8RIF1replication timing regulatory factor 1Skeletal Muscle+3.330.000
9SPXspexin hormoneSkeletal Muscle+3.310.001
10SCD5stearoyl-CoA desaturase 5Skeletal Muscle+3.200.000
11AQP4aquaporin 4Skeletal Muscle+3.190.001
12CHI3L1chitinase 3-like 1 (cartilage glycoprotein-39)Skeletal Muscle-3.090.009
13SLC39A14solute carrier family 39 (zinc transporter), member 14Skeletal Muscle-3.070.003
14GOLGA8Agolgin A8 family, member ASkeletal Muscle+3.030.000
15COL3A1collagen, type III, alpha 1Skeletal Muscle+3.020.001

Search GEO for disease gene expression data for Myotonic Dystrophy 1.

Pathways for genes affiliated with Myotonic Dystrophy 1

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Pathways related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.9PRKCA, PRKCB
29.9PRKCA, PRKCB
39.4ATP2A1, PRKCA, PRKCB
49.4ATP2A1, PRKCA, PRKCB

GO Terms for genes affiliated with Myotonic Dystrophy 1

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Cellular components related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sarcoplasmic reticulum membraneGO:00330179.7ATP2A1, DMPK
2nuclear outer membraneGO:00056409.6DHCR7, DMPK

Biological processes related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone H3-T6 phosphorylationGO:003540810.4PRKCA, PRKCB
2regulation of RNA splicingGO:004348410.2CELF1, MBNL1
3peptidyl-serine phosphorylationGO:00181059.7DMPK, PRKCA, PRKCB
4cholesterol biosynthetic processGO:00066959.5CNBP, DHCR7

Molecular functions related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone kinase activity (H3-T6 specific)GO:00354039.9PRKCA, PRKCB
2calcium-dependent protein kinase C activityGO:00046989.9PRKCA, PRKCB
3protein kinase C activityGO:00046979.6PRKCA, PRKCB

Sources for Myotonic Dystrophy 1

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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