MCID: DCH001
MIFTS: 80

Duchenne Muscular Dystrophy malady

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

Aliases & Classifications for Duchenne Muscular Dystrophy

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 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 Duchenne Muscular Dystrophy:

Name: Duchenne Muscular Dystrophy 51 34 11 47 24 53 69 12 13
Muscular Dystrophy, Duchenne 11 47 26 38 67
Dmd 47 24 53 69
Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type 47
Muscular Dystrophy, Classic X-Linked Recessive 24
Progressive Muscular Dystrophy of Childhood 24
 
Severe Dystrophinopathy, Duchenne Type 53
Pseudohypertrophic Muscular Dystrophy 24
Muscular Dystrophy, Duchenne Type 51
Childhood Muscular Dystrophy 24
Muscular Dystrophy Duchenne 49

Characteristics:

Orphanet epidemiological data:

53
duchenne muscular dystrophy:
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (United Kingdom),1-5/10000 (Europe),1-9/100000 (Ireland),1-9/100000 (Italy),1-9/100000 (Worldwide),1-9/100000 (Egypt),1-9/100000 (Japan),1-9/1000000 (South Africa),1-9/100000 (Denmark),1-9/100000 (Puerto rico); Age of onset: Childhood; Age of death: young Adult

HPO:

63
duchenne muscular dystrophy:
Inheritance: x-linked recessive inheritance
Onset and clinical course: childhood onset

Classifications:



External Ids:

OMIM51 310200
Disease Ontology11 DOID:11723
MeSH38 D020388
NCIt44 C75482
Orphanet53 ORPHA98896
MESH via Orphanet39 D020388
UMLS via Orphanet68 C0013264
ICD10 via Orphanet30 G71.0
MedGen36 C0013264

Summaries for Duchenne Muscular Dystrophy

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OMIM:51 Dystrophin-associated muscular dystrophies range from the severe Duchenne muscular dystrophy (DMD) to the milder Becker... (310200) more...

MalaCards based summary: Duchenne Muscular Dystrophy, also known as muscular dystrophy, duchenne, is related to dmd-associated dilated cardiomyopathy and dmd-related dilated cardiomyopathy, and has symptoms including weakness, weakness and waddling gait. An important gene associated with Duchenne Muscular Dystrophy is DMD (Dystrophin), and among its related pathways are Urea cycle and metabolism of amino groups and Effects of nitric oxide. Affiliated tissues include skeletal muscle, heart and bone, and related mouse phenotypes are cellular and nervous system.

Disease Ontology:11 A muscular dystrophy that has material basis in X-linked disease that has material basis in mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.

NIH Rare Diseases:47 Duchenne muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. It is caused by a mutation in a gene, called the DMD gene, which encodes the muscle protein dystrophin. Boys with Duchenne muscular dystrophy do not make the dystrophin protein in their muscles. Duchenne mucular dystrophy is inherited in an X-linked recessive fashion; however, it may also occur in people from families without a known family history of the condition. Individuals who have DMD have progressive loss of muscle function and weakness, which begins in the lower limbs. In addition to the skeletal muscles used for movement, DMD may also affect the muscles of the heart.  There is no known cure for Duchenne muscular dystrophy. Treatment is aimed at control of symptoms to maximize the quality of life. Last updated: 4/25/2015

UniProtKB/Swiss-Prot:69 Duchenne muscular dystrophy: Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.

Wikipedia:70 Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy. The symptom of muscle weakness... more...

Related Diseases for Duchenne Muscular Dystrophy

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Diseases related to Duchenne Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 123)
idRelated DiseaseScoreTop Affiliating Genes
1dmd-associated dilated cardiomyopathy12.4
2dmd-related dilated cardiomyopathy12.3
3muscular dystrophy, duchenne and becker type12.1
4becker muscular dystrophy11.7
5glycerol kinase deficiency11.5
6muscular dystrophy11.3
7muscular dystrophy, limb-girdle, type 2c11.0
8chromosome xp21 deletion syndrome11.0
9adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism11.0
10d ercole syndrome10.6DMD, UTRN
11parkinsonism with spasticity, x-linked10.5DMD, GK, OTC
12cardiomyopathy10.5
13leukemia, megakaryoblastic, with or without down syndrome, somatic10.4DMD, GK, OTC
14proliferating trichilemmal cyst10.4DMD, MB, NOS1
15elane-related neutropenia10.4DMD, UTRN
16thrombocytopenia, x-linked10.3DMD, GK, NOS1, UTRN
17scoliosis10.3
18neuromuscular disease10.3
19creatine phosphokinase, elevated serum10.3CAV3, MB
20spinal muscular atrophy10.2
21muscular atrophy10.2
22primary angle-closure glaucoma10.2AQP4, MB
23muscular dystrophy, congenital10.2DAG1, DMD, ITGA7, UTRN
24dilated cardiomyopathy10.2
25schindler disease10.2AQP4, DAG1, DMD, UTRN
26gingival recession10.1DMD, MB
27ischemia10.1
28myopathy10.1
29dysphagia10.1
30cerebritis10.1
31retinitis10.1
32neuronitis10.1
33myotonic dystrophy10.1
34classic variant of chromophobe renal cell carcinoma10.0CAV3, DAG1, DMD, MSTN, UTRN
35osteoporosis10.0
36aland island eye disease10.0
37macroglossia10.0
38chronic granulomatous disease10.0
39nephrolithiasis10.0
40retinitis pigmentosa10.0
41congenital stationary night blindness10.0
42epilepsy10.0
43lateral sclerosis10.0
44rhabdomyosarcoma10.0
45sleep disorder10.0
46eye disease10.0
47myositis10.0
48night blindness10.0
49hemophilia10.0
50polymyositis10.0

Graphical network of the top 20 diseases related to Duchenne Muscular Dystrophy:



Diseases related to duchenne muscular dystrophy

Symptoms for Duchenne Muscular Dystrophy

About this section

Symptoms by clinical synopsis from OMIM:

310200

Clinical features from OMIM:

310200

Human phenotypes related to Duchenne Muscular Dystrophy:

 63 (show all 16)
id Description HPO Frequency HPO Source Accession
1 muscular hypotonia63 HP:0001252
2 intellectual disability, mild63 HP:0001256
3 hyporeflexia63 HP:0001265
4 flexion contracture63 HP:0001371
5 congestive heart failure63 HP:0001635
6 dilated cardiomyopathy63 HP:0001644
7 waddling gait63 HP:0002515
8 scoliosis63 HP:0002650
9 hypoventilation63 HP:0002791
10 respiratory failure63 HP:0002878
11 elevated serum creatine phosphokinase63 HP:0003236
12 hyperlordosis63 HP:0003307
13 gowers sign63 HP:0003391
14 muscular dystrophy63 HP:0003560
15 calf muscle pseudohypertrophy63 HP:0003707
16 arrhythmia63 HP:0011675

UMLS symptoms related to Duchenne Muscular Dystrophy:


weakness, waddling gait

Drugs & Therapeutics for Duchenne Muscular Dystrophy

About this section

Drugs for Duchenne Muscular Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 203)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Carvedilolapproved, investigationalPhase 416372956-09-32585
Synonyms:
(+-)-1-(Carbazol-4-yloxy)-3-((2-(O-methoxyphenoxy)ethyl)amino)-2-propanol
(+-)-1-(Carbazol-4-yloxy)-3-((2-(o-methoxyphenoxy)ethyl)amino)-2-propanol
(+-)-1-Carbazol-4-yloxy)-3-((2-(o-methoxyphenoxy)ethyl)amino)-2-propanol
(+/-)-1-(Carbazol-4-yloxy)-3-[[2-(o-methoxyphenoxy)ethyl]amino]-2-propanol
1-(9H-Carbazol-4-yloxy)-3-[[2-(2-methoxyphenoxy)ethyl]amino]-2-propanol
1-(9H-carbazol-4-yloxy)-3-[(2-{[2-(methyloxy)phenyl]oxy}ethyl)amino]propan-2-ol
1-(9H-carbazol-4-yloxy)-3-[2-(2-methoxyphenoxy)ethylamino]propan-2-ol
1-(9H-carbazol-4-yloxy)-3-{[2-(2-methoxyphenoxy)ethyl]amino}propan-2-ol
107741-96-8
72956-09-3
AB1004830
AC-1641
AC1L1E0B
Artist
Artist (TN)
Atlana Pharma brand of carvedilol
BM 14190
BM-14-190
BM-14.190
BM-14190
BRD-A10977446-001-04-8
BRD-A10977446-045-01-1
Bio-0014
C043211
C06875
C2260
C24H26N2O4
CHEBI:3441
CHEMBL723
CID2585
CPD000449280
Carvedilol
Carvedilol (JAN/USAN/INN)
Carvedilol [USAN:INN:BAN:JAN]
Carvedilolum
Carvedilolum [Latin]
Coreg
Coreg (TN)
Coreg CR
Coropres
Coropress
D00255
DB01136
DQ 2466
DQ-2466
Dibloc
 
Dilatrend
EG-P042
Eucardic
GlaxoSmithKline brand of carvedilol
HMS2051N03
HMS2089B09
HMS2093E12
HSDB 7044
I06-0064
I06-1477
KBio2_002145
KBio2_004713
KBio2_007281
KBio3_002323
KBioGR_001252
KBioSS_002145
Kredex
L001243
LS-121875
Lakeside brand of carvedilol
MLS000758299
MLS000759508
MLS001424092
MolPort-003-666-814
NCGC00167832-01
NCGC00167832-02
NCGC00167832-03
Querto
Roche brand of carvedilol
SAM001246736
SAM001247021
SK&F-105517
SKF 105517
SMR000449280
SPBio_001885
STK621453
Spectrum2_001673
Spectrum3_001182
Spectrum4_000636
Spectrum5_001436
Spectrum_001665
TL8005080
UNII-0K47UL67F2
carvedilol
carvedilol, (+-)-isomer
carvedilol, (R)-isomer
carvedilol, (S)-isomer
carvedilol, 14C-labeled
2
RamiprilapprovedPhase 415187333-19-55362129
Synonyms:
(2 S ,3 aS ,6 aS )-1[( S )-N-[( S )-1-Carboxy-3-phenylpropyl] alanyl] octahydrocyclopenta [ b ]pyrrole-2-carboxylic acid, 1-ethyl ester
(2S,3aS,6aS)-1-((S)-2-((S)-1-ethoxy-1-oxo-4-phenylbutan-2-ylamino)propanoyl) octahydrocyclopenta[b]pyrrole-2-carboxylic acid
(2S,3aS,6aS)-1-((S)-N-((S)-1-Carboxy-3-phenylpropyl)alanyl)octahydrocyclopenta(b)pyrrole-2-carboxylic acid, 1-ethyl ester
(2S,3aS,6aS)-1-((S)-N-((S)-1-Ethoxycarbonyl-3-phenylpropyl)alanyl)octahydrocyclopenta(b)pyrrol-2-carbonsaeure
(2S,3aS,6aS)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]-3,3a,4,5,6,6a-hexahydro-2H-cyclopenta[b]pyrrole-2-carboxylic acid
(2S,3aS,6aS)-1-[(2S)-2-{[(1S)-1-ethoxycarbonyl-3-phenylpropyl]amino}propanoyl]octahydrocyclopenta[b]pyrrole-2-carboxylic acid
(2S,3aS,6aS)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino}propanoyl]octahydrocyclopenta[b]pyrrole-2-carboxylic acid (non-preferred name)
(2S-(1(R*(R*)),2alpha,3abeta,6abeta))-1-(2-((1-(Ethoxycarbonyl)-3-phenylpropyl)amino)-1-oxopropyl)octahydrocyclopenta(b)pyrrole-2-carboxylic acid.
(2S-(1(R*(r*)),2alpha,3abeta,6abeta))-1-(2-((1-(ethoxycarbonyl)-3-phenylpropyl)amino)-1-oxopropyl)octahydrocyclopenta(b)pyrrole-2-carboxylic acid
(2s,3as,6as)-1((s)-n-((s)-1-carboxy-3-phenylpropyl)alanyl)octahydrocyclopenta(b)pyrrole-2-carboxylic
(2s,3as,6as)-1-((s)-2-((s)-1-ethoxy-1-oxo-4-phenylbutan-2-ylamino)propanoyl)-octahydrocyclopenta[b]p
(2s,3as,6as)-1-[(s)-2-((s)-1-ethoxycarbonyl-3-phenyl-propylamino)-propionyl]-octahydro-cyclopenta[b]
126613-39-6
87333-19-5
AC-1347
AC1NSFPR
Acovil
Almirall Brand of Ramipril
Altace
Altace (TN)
Altace (tn)
Astra Brand of Ramipril
AstraZeneca Brand of Ramipril
Aventis Brand of Ramipril
Aventis Pharma Brand of Ramipril
BIDD:GT0803
BSPBio_003347
Bio-0651
C23H32N2O5
CHEBI:289203
CHEBI:8774
CHEMBL1168
CID5362129
CPD000466386
Carasel
Cardace
D00421
D017257
DB00178
Delix
HMS2051E04
HMS2090L11
HMS2093M10
HOE 498
HOE498
Hoe-498
Hoechst Brand of Ramipril
 
Hypren
Hytren
KBio2_002504
KBio2_005072
KBio2_007640
KBio3_002849
KBioGR_001858
KBioSS_002512
LS-58199
Lostapres
MLS000759523
MLS001216547
MLS001423965
MolPort-001-736-571
Monarch Brand of Ramipril
N-(1S-carboethoxy-3-phenylpropyl)-S-alanyl-cis,endo-2-azabicyclo[3.3.0]octane-3S-carboxylic Acid
NCGC00178127-01
Naprix
Pramace
Pramace (discontinued)
Promed Brand of Ramipril
Quark
R0404_SIGMA
Ramace
Ramipril
Ramipril (USP/INN)
Ramipril [USAN:INN:BAN]
Ramiprilum
Ramiprilum [Latin]
Ramipro, Tritace, Altace, Prilace, Ramipril
S1793_Selleck
SAM001246757
SAM002699899
SMR000466386
SPECTRUM1505214
STK801937
Spectrum3_001794
Spectrum4_001269
Spectrum5_001721
Spectrum_001958
Triatec
Tritace
UNII-L35JN3I7SJ
Unipril
Vesdil
Zabien
[2S,3aS,6aS]-1-[(2S)-2-[[(1S)-1-(Ethoxycarbonyl)-3-phenylpropyl]amino]-1-oxopropyl]octahydrocyclopenta[b]pyrrole-2-carboxylic acid
[2s,3as,6as]-1-[(2s)-2-[[(1s)-1-(ethoxycarbonyl)-3-phenylpropyl]amino]-1-oxopropyl]octahydrocyclopen
ramipril
3
Tadalafilapproved, investigationalPhase 4, Phase 3, Phase 1149171596-29-5110635
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
4Angiotensin-Converting Enzyme InhibitorsPhase 4, Phase 3, Phase 2711
5HIV Protease InhibitorsPhase 4, Phase 3, Phase 25319
6Adrenergic AgentsPhase 4, Phase 35140
7Adrenergic alpha-AntagonistsPhase 4727
8
protease inhibitorsPhase 4, Phase 3, Phase 25320
Synonyms:
 
protease inhibitors
9Vasodilator AgentsPhase 4, Phase 3, Phase 1, Phase 23438
10Adrenergic AntagonistsPhase 41535
11Adrenergic beta-AntagonistsPhase 41154
12Antihypertensive AgentsPhase 4, Phase 3, Phase 24095
13Neurotransmitter AgentsPhase 4, Phase 3, Phase 217734
14Adrenergic alpha-1 Receptor AntagonistsPhase 4470
15Anti-Bacterial AgentsPhase 4, Phase 2, Phase 110884
16Phosphodiesterase 5 InhibitorsPhase 4, Phase 3, Phase 2, Phase 1571
17Phosphodiesterase InhibitorsPhase 4, Phase 3, Phase 1, Phase 21254
18Antibiotics, AntitubercularPhase 46972
19Idebenoneapproved, investigationalPhase 3, Phase 22158186-27-9
20
Prednisoneapproved, vet_approvedPhase 3, Phase 2135953-03-25865
Synonyms:
(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione
(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione
(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione
.delta. E
.delta.(sup1)-Cortisone
.delta.-Cortelan
.delta.-Cortisone
.delta.-Cortone
.delta.-E
.delta.1-Cortisone
.delta.1-Dehydrocortisone
.delta.sone
1,2-Dehydrocortisone
1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione
1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione
1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione
1-Cortisone
1-Dehydrocortisone
17,21-Dihydroxypregna-1,4-diene-3,11,20-trione
17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione
53-03-2
68-59-7
81552_FLUKA
AC-11112
AC1L1LB2
AC1Q29EZ
ACon0_000082
ACon1_000297
AI3-52939
Adasone
Ancortone
Apo-Prednisone
Apo-prednisone
BPBio1_000323
BRD-K85883481-001-04-2
BSPBio_000293
Betapar
Bicortone
Bio-0649
C07370
C21H26O5
CCRIS 2646
CHEBI:8382
CHEMBL635
CID5865
CPD001227202
Cartancyl
Colisone
Cortan
Cortancyl
Cortidelt
Cotone
DB00635
Dacorten
Dacortin
Decortancyl
Decortin
Decortisyl
Dehydrocortisone
Dekortin
Delcortin
Dellacort
Dellacort A
Delta Cortelan
Delta E
Delta E.
Delta-Cortelan
Delta-Dome
Delta-cortelan
Delta-cortisone
Delta-cortone
Delta-dome
Deltacortene
Deltacortisone
Deltacortone
Deltasone
Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone
Deltison
Deltisona
Deltisone
Deltra
Di-Adreson
Diadreson
EINECS 200-160-3
Econosone
Encorton
Encortone
Enkortolon
Enkorton
Fernisone
Fiasone
HMS1568O15
HMS2090J13
HSDB 3168
Hostacortin
In-Sone
Incocortyl
 
Juvason
Kortancyl
LMST02030180
LS-1325
Liquid Pred
Lisacort
Lodotra
MEGxm0_000443
MLS001061265
MLS001304073
MLS001335907
MLS001335908
MLS002154191
MLS002207083
Me-Korti
Metacortandracin
Meticorten
Meticorten (Veterinary)
Metrevet (Veterinary)
MolPort-001-740-041
NCGC00090766-01
NCGC00090766-02
NCGC00090766-03
NCI-C04897
NCI60_000008
NSC 10023
NSC10023
Nisona
Nizon
Novoprednisone
Nurison
Orasone
Origen Prednisone
P1276
P6254_SIGMA
PRD
Panafcort
Panasol
Paracort
Parmenison
Pehacort
Precort
Predeltin
Prednicen-M
Prednicorm
Prednicort
Prednicot
Prednidib
Prednilonga
Prednison
Prednisona
Prednisona [INN-Spanish]
Prednisone
Prednisone Intensol
Prednisone [INN:BAN]
Prednisonum
Prednisonum [INN-Latin]
Prednitone
Prednizon
Prednovister
Presone
Prestwick0_000077
Prestwick1_000077
Prestwick2_000077
Prestwick3_000077
Prestwick_405
Pronison
Pronisone
Rectodelt
Retrocortine
S1622_Selleck
SAM002264641
SK-Prednisone
SMR000718760
SMR001227202
SPBio_002214
Servisone
Sone
Sterapred
Supercortil
U 6020
UNII-VB0R961HZT
Ultracorten
Ultracortene
WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ
Winpred
Wojtab
ZINC03875357
Zenadrid
Zenadrid (veterinary)
Zenadrid [veterinary]
delta cortelan
delta(sup 1)-Cortisone
delta(sup 1)-Dehydrocortisone
delta-1-Cortisone
delta-1-Dehydrocortisone
delta-Cortisone
delta-Cortone
21
Enalaprilapproved, vet_approvedPhase 312075847-73-35362032, 40466924
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(S)-1-(N-(1-(Ethoxycarbonyl)-3-phenylpropyl)-L-alanyl)-L-proline
(S)-1-{(S)-2-[1-((S)-ethoxycarbonyl)-3-phenyl-propylamino]-propionyl}-pyrrolidine-2-carboxylic acid
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline 1'-ethyl ester
75847-73-3
AC1NTUS5
Analapril
BIDD:GT0751
BPBio1_000340
BSPBio_000308
BSPBio_003035
Bonuten
C06977
CAS-76095-16-4
CHEBI:116847
CHEBI:4784
CHEMBL578
CID5388962
D07892
DivK1c_000408
Enalapril
Enalapril (INN)
Enalapril (TN)
Enalapril Bp
Enalapril Maleate
Enalapril Richet
Enalaprila
Enalaprila [INN-Spanish]
Enalaprilat
Enalaprilum
 
Enalaprilum [INN-Latin]
Gadopril
HMS2090E08
IDI1_000408
KBio1_000408
KBio2_001787
KBio2_004355
KBio2_006923
KBio3_002535
KBioGR_000355
KBioSS_001787
Kinfil
LS-190651
MolPort-002-885-877
N-[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]-L-alanyl-L-proline
N-{(1S)-1-[(ethyloxy)carbonyl]-3-phenylpropyl}-L-alanyl-L-proline
NCGC00016932-01
NCGC00021569-04
NCGC00021569-05
NCGC00021569-06
NINDS_000408
Prestwick3_000314
SPBio_001349
Spectrum2_001455
Spectrum3_001478
Spectrum4_000008
Spectrum5_001107
Spectrum_001307
Vaseretic
Vasotec
Vasotec IV
enalapril
22
EplerenoneapprovedPhase 394107724-20-9150310, 443872
Synonyms:
107724-20-9
7alpha-methoxycarbonyl-3-oxo-9,11alpha-epoxy-17alpha-pregn-4-ene-21,17-carbolactone
AC-4213
AC1L9FDC
C12512
CGP-30083
CHEBI:31547
CHEBI:726453
CHEMBL1095097
CID443872
D01115
Eplerenone
 
Eplerenone (JAN/USAN/INN)
Epoxymexrenone
Inspra
Inspra (TN)
Inspra, Epoxymexrenone, CGP30083, SC-66110,Eplerenone
MolPort-003-986-216
NCGC00159559-01
NCGC00159559-02
S1707_Selleck
SC-66110
Selara
TL8000270
ZINC03985982
23
Lisinoprilapproved, investigationalPhase 2, Phase 311883915-83-75362119
Synonyms:
(2S)-1-[(2S)-6-amino-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]hexanoyl]pyrrolidine-2-carboxylic acid
(S)-1-(N(2)-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
(S)-1-(N(2)-(1-carboxy-3-phenylpropyl)-L-lysyl)-L-proline
(S)-1-(N(sup 2)-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
(S)-1-(N2-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
1-(N2-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
1-[Nalpha-[(S)-1-Carboxy-3-phenylpropyl]-L-lysyl]-L-proline
76547-98-3
77726-95-5
83915-83-7 (Parent)
AC1NSFPF
Acerbon
Acercomp
Alapril
BB_NC-1454
BIDD:GT0755
BPBio1_000290
BRD-K67966701-335-03-5
BRN 4276619
BSPBio_000262
C21H31N3O5
CCRIS 3568
CHEBI:43755
CHEMBL1237
CID5362119
Carace
Cipral
Cipril
Coric
D08131
DB00722
DivK1c_001037
Doneka
EINECS 278-488-1
HMS1921B14
HMS2090O14
HMS2092L21
HMS503O15
I06-1895
ICI-209K
IDI1_001037
Inhibril
Inopril
KBio1_001037
KBio2_000977
KBio2_003545
KBio2_006113
KBio3_002002
KBioGR_001599
KBioSS_000977
L0220
LPR
LS-118899
Linopril
Linvas
Lipril
Lisinal
 
Lisinopril
Lisinopril (INN)
Lisinopril (anhydrous)
Lisinopril Dihydrate
Lisinopril anhydrous
Lisinoprilum
Lisinoprilum [Latin]
Lisipril
Lisoril
Lispril
Longes
Loril
Lysinopril
MK 521
MK 522
MK-521
MLS001306436
MLS001306481
MolPort-002-507-428
N(2)-[(1S)-1-carboxy-3-phenylpropyl]-L-lysyl-L-proline
N-(1(S)-Carboxy-3-phenylpropyl)-L-lysyl-L-proline
N2-((S)-1-Carboxy-3-phenylpropyl)-L-lysyl-L-proline
N2-[(1S)-1-carboxy-3-phenylpropyl]-L-lysyl-L-proline
NCGC00179623-01
NINDS_001037
Noperten
Novatec
Presiten
Prestwick0_000301
Prestwick1_000301
Prestwick2_000301
Prestwick3_000301
Prinil
Prinivil
Prinzide
Renacor
SMR000544473
SPBio_001351
SPBio_002481
SPECTRUM1501217
Sinopril
Sinopryl
Spectrum2_001456
Spectrum3_000941
Spectrum4_001040
Spectrum5_000995
Spectrum_000497
TL8005499
Tensopril
Tensyn
Tersif
Vivatec
Zestoretic
Zestril
Zestril (TN)
[N2-[(S)-1-CARBOXY-3-PHENYLPROPYL]-L-LYSYL-L-PROLINE
[N2-[(S)-1-CARBOXY-3-phenylpropyl]-L-lysyl-L-proline
lisinopril
24
SpironolactoneapprovedPhase 32221952-01-7, 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
25
EnalaprilatapprovedPhase 312076420-72-96917719
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid dihydrate
1-((2S)-2-{[(1S)-1-CARBOXY-3-PHENYLPROPYL]AMINO}PROPANOYL)-L-PROLINE
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline dihydrate
76420-72-9
AC1NUWEA
AC1OCEK7
BIDD:GT0752
C11720
C18H24N2O5.2H2O
CHEBI:116759
CHEBI:42302
CHEBI:4786
CHEBI:59877
CHEMBL1200697
CHEMBL577
CID5462501
CID6917719
CPD000466359
D03769
EAL
ENALAPRILAT INHIBITOR
Enalapril acid
Enalapril diacid
Enalaprilat
Enalaprilat (USP)
 
Enalaprilat anhydrous
Enalaprilate
Enalaprilatum
Enalaprilic acid
Enalprilate hydrate
HMS2051H16
HMS2089P04
LS-118903
LS-187219
MK-422
MLS000759476
MLS001424138
MolPort-005-943-792
N-[(1S)-1-Carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline--water (1/2)
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline—water (1/2)
NCGC00164593-01
S1657_Selleck
SAM001246684
SBB065733
SMR000466359
Vasotec I.V.
enalaprilat dihydrate
enalaprilat hydrate
enalprilat hydrate
enalprilate hydrate
26
MetforminapprovedPhase 3, Phase 2, Phase 11746657-24-914219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMGG
Diabetosan
Diabex
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
27
BenzocaineapprovedPhase 318921994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
28
Zoledronic acidapprovedPhase 3290118072-93-868740
Synonyms:
(1-Hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid
(1-hydroxy-2-(1H-imidazol-1-yl)ethylidene)bisphosphonic acid
(1-hydroxy-2-imidazol-1-yl-1-phosphonoethyl)phosphonic acid
(1-hydroxy-2-imidazol-1-yl-phosphonoethyl)phosphonic acid monohydrate
(1-hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid
118072-93-8
2-(imidazol-1-yl)-1-hydroxyethane-1,1-diphosphonic acid
2-(imidazol-1-yl)-1-hydroxyethylidene-1,1-bisphosphonic acid
AC-1092
AC1L2ACJ
AC1Q6RN3
AKOS005145739
Aclasta
Anhydrous Zoledronic Acid
BIDD:GT0292
BIDD:PXR0134
Bio-0112
Bisphosphonate 3
C088658
CGP 42'446
CGP 42446
CGP 42446A
CGP-42'446
CGP-42446
CHEBI:46557
CHEMBL924
CID68740
D08689
DB00399
 
FT-0082657
HMS2089O09
I06-0710
KS-1132
LS-181815
MolPort-002-885-874
MolPort-003-850-890
NCGC00159521-02
NCGC00159521-03
NSC721517
Novartis brand of zoledronic acid
Reclast
Reclast (TN)
S00092
S1314_Selleck
UNII-70HZ18PH24
ZOL
Zol
Zoledronate
Zoledronic Acid Anhydrous
Zoledronic Acid, Anhydrous
Zoledronic acid
Zoledronic acid (INN)
Zoledronic acid [USAN:INN]
Zometa
Zometa (Novartis)
Zometa (TN)
Zometa Concentrate
Zometa, Zomera, Aclasta and Reclast, Zoledronic Acid
[1-hydroxy-2-(1H-imidazol-1-yl)ethane-1,1-diyl]bis(phosphonic acid)
29
Nebivololapproved, investigationalPhase 382152520-56-4, 99200-09-6, 118457-14-071301
Synonyms:
1,1'-Bis(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-yl)-2,2'-iminodiethanol
1,1'-[Bis(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-yl)]-2,2'-iminodiethanol
1-(6-fluoro-3,4-dihydro-2H-chromen-2-yl)-2-[[2-(6-fluoro-3,4-dihydro-2H-chromen-2-yl)-2-hydroxyethyl]amino]ethanol
104365-59-5
118457-14-0
2,2'-iminobis[1-(6-fluoro-3,4-dihydro-2H-chromen-2-yl)ethanol]
99200-09-6
AC-1611
AC1L2FX8
AC1Q4OMF
Bystolic
C22H25F2NO4
CHEMBL434394
CID71301
D05127
DB04861
I06-0378
L001284
LS-178404
Lobivon
MolPort-003-849-343
Narbivolol
 
Nebicard-5
Nebilet
Nebilong
Nebipill
Nebivolol
Nebivolol (USAN/INN)
Nebivolol [USAN:INN:BAN]
Nebivololum
Nebivololum [Latin]
Nebivololum [latin]
Nubeta
PDSP1_000244
PDSP2_000243
PI-21858
R 67555
R-67555
R65,824
UNII-030Y90569U
alpha,alpha'-(Iminobis(methylene))bis(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-methanol)
alpha,alpha'-(Iminodimethylene)bis(6-fluoro-2-chromanmethanol)
alpha,alpha'-(iminobis(methylene))bis(6-fluoro-3,4-dihydro)-2H-1-benzopyran-2-methanol
alpha,alpha'-(iminobismethylene)bis-(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-methanol)
alpha,alpha'-(iminodimethylene)bis-(6-fluoro-2-chromanmethanol)
30tannic acidapproved, NutraceuticalPhase 31892
31
Creatineapproved, nutraceuticalPhase 2, Phase 312657-00-1586
Synonyms:
((amino(Imino)methyl)(methyl)amino)acetic acid
((amino(imino)methyl)(methyl)amino)acetate
((amino(imino)methyl)(methyl)amino)acetic acid
(N-methylcarbamimidamido)acetic acid
(alpha-Methylguanido)acetate
(alpha-Methylguanido)acetic acid
(α-methylguanido)acetic acid
Cosmocair C 100
Creatin
Creatine
Creatine hydrate
Kreatin
 
Krebiozon
Methylglycocyamine
Methylguanidoacetate
Methylguanidoacetic acid
N-(Aminoiminomethyl)-N-Methyl-Glycine
N-(aminoiminomethyl)-N-methylglycine
N-Amidinosarcosine
N-Carbamimidoyl-N-methylglycine
N-Methyl-N-guanylglycine
N-[(e)-AMINO(imino)methyl]-N-methylglycine
Phosphagen
[[Amino(imino)methyl](methyl)amino]acetate
[[Amino(imino)methyl](methyl)amino]acetic acid
alpha-Methylguanidino acetic acid
32Bone Density Conservation AgentsPhase 3, Phase 13266
33diureticsPhase 3, Phase 11372
34Anti-Inflammatory AgentsPhase 3, Phase 2, Phase 110355
35Natriuretic AgentsPhase 3, Phase 11645
36Antineoplastic Agents, HormonalPhase 3, Phase 2, Phase 15407
37Immunosuppressive AgentsPhase 3, Phase 112770
38Adrenergic AgonistsPhase 32877
39VitaminsPhase 2, Phase 35095
40Pharmaceutical SolutionsPhase 3, Phase 2, Phase 17793
41Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 2, Phase 112767
42DeflazacortPhase 3, Phase 11314484-47-0
43MineralocorticoidsPhase 3352
44Protective AgentsPhase 3, Phase 2, Phase 17190
45Trace ElementsPhase 3, Phase 25802
46MicronutrientsPhase 3, Phase 25802
47HormonesPhase 3, Phase 2, Phase 113979
48AntioxidantsPhase 3, Phase 2, Phase 12928
49UbiquinonePhase 3, Phase 2139
50Hormone AntagonistsPhase 3, Phase 2, Phase 112778

Interventional clinical trials:

(show top 50)    (show all 201)
idNameStatusNCT IDPhase
1The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular DystrophyUnknown statusNCT00606775Phase 4
2Ramipril Versus Carvedilol in Duchenne and Becker PatientsUnknown statusNCT00819845Phase 4
3Tadalafil in Becker Muscular DystrophyCompletedNCT01070511Phase 4
4PDE5 Inhibition to Alleviate Functional Muscle Ischemia in Becker Muscular DystrophyCompletedNCT02207283Phase 4
5Stacking Exercises Aid the Decline in FVC and Sick TimeActive, not recruitingNCT01999075Phase 4
6Effects of Sodium Nitrate on Blood Flow in Becker Muscular DystrophyUnknown statusNCT02147639Phase 2, Phase 3
7High-dose Prednisone in Duchenne Muscular DystrophyCompletedNCT00110669Phase 3
8L-citrulline and Metformin in Duchenne's Muscular DystrophyCompletedNCT01995032Phase 3
9Phase 2b Study of PTC124 in Duchenne/Becker Muscular Dystrophy (DMD/BMD)CompletedNCT00592553Phase 2, Phase 3
10Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular DystrophyCompletedNCT00004646Phase 3
11A Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular DystrophyCompletedNCT01254019Phase 3
12Creatine and Glutamine in Steroid-Naive Duchenne Muscular DystrophyCompletedNCT00016653Phase 2, Phase 3
13Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD)CompletedNCT01027884Phase 3
14A Multicenter Randomized Placebo-Controlled Double-Blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy (DMD)CompletedNCT00018109Phase 3
15Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy TrialCompletedNCT02432885Phase 3
16Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular DystrophyCompletedNCT01826487Phase 3
17Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular DystrophyRecruitingNCT02354352Phase 3
18A Phase III Double-blind Study With Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Taking Glucocorticoid SteroidsRecruitingNCT02814019Phase 3
19Confirmatory Study of Eteplirsen in DMD PatientsRecruitingNCT02255552Phase 3
20Study of SRP-4045 and SRP-4053 in DMD PatientsRecruitingNCT02500381Phase 3
211 Year Open-label Extension to CZOL446H2337 Safety and Efficacy Trial of Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With GlucocorticoidsRecruitingNCT01197300Phase 3
22A Research Study of Zoledronic Acid in Children and Adolescents With OsteoporosisRecruitingNCT00799266Phase 3
23Finding the Optimum Regimen for Duchenne Muscular DystrophyActive, not recruitingNCT01603407Phase 3
24Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular DystrophyActive, not recruitingNCT01183767Phase 2, Phase 3
25Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular DystrophyActive, not recruitingNCT01648634Phase 3
26Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and CanadaActive, not recruitingNCT01557400Phase 3
27Study of Ataluren for Previously Treated Patients With nmDBMD in the USEnrolling by invitationNCT01247207Phase 3
28Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular DystrophiesEnrolling by invitationNCT01126697Phase 2, Phase 3
29Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation DystrophinopathyEnrolling by invitationNCT02090959Phase 3
30Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular DystrophyNot yet recruitingNCT02851797Phase 3
31A Study of Tadalafil for Duchenne Muscular DystrophyTerminatedNCT01865084Phase 3
32Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD)TerminatedNCT00847379Phase 2, Phase 3
33Extension Study of Drisapersen in DMD SubjectsTerminatedNCT02636686Phase 3
34Open Label Study of GSK2402968 in Subjects With Duchenne Muscular DystrophyTerminatedNCT01480245Phase 3
35CoQ10 and Prednisone in Non-Ambulatory DMDTerminatedNCT00308113Phase 3
36A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian SubjectsTerminatedNCT01803412Phase 3
37Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular DisordersTerminatedNCT00839033Phase 3
38Drisapersen Duchenne Muscular Dystrophy (DMD) Treatment ProtocolWithdrawnNCT01890798Phase 3
39Efficacy of Umbilical Cord Mesenchymal Stem Cells in Duchenne Muscular DystrophyUnknown statusNCT02285673Phase 1, Phase 2
40Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Duchenne Muscular DystrophyUnknown statusNCT01610440Phase 1, Phase 2
41Safety and Efficacy Study of IGF-1 in Duchenne Muscular DystrophyUnknown statusNCT01207908Phase 1, Phase 2
42Study Safety and Efficacy of BMMNC for the Patient With Duchenne Muscular DystrophyUnknown statusNCT01834040Phase 1, Phase 2
43Use of (-)-Epicatechin in the Treatment of Becker Muscular Dystrophy (Pilot Study)Unknown statusNCT01856868Phase 1, Phase 2
44Study Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Muscular Dystrophy.Unknown statusNCT01834066Phase 1, Phase 2
45Safety and Efficacy Study of PTC124 in Duchenne Muscular DystrophyCompletedNCT00264888Phase 2
46Safety and Efficacy Study of Antisense Oligonucleotides in Duchenne Muscular DystrophyCompletedNCT00159250Phase 1, Phase 2
47Efficacy and Tolerability of Idebenone in Boys With Cardiac Dysfunction Associated With Duchenne Muscular DystrophyCompletedNCT00654784Phase 2
48Efficacy Study of AVI-4658 to Induce Dystrophin Expression in Selected Duchenne Muscular Dystrophy PatientsCompletedNCT01396239Phase 2
49CRD007 for the Treatment of Duchenne Muscular Dystrophy, Becker Muscular Dystrophy and Symptomatic CarriersCompletedNCT01540604Phase 2
50Long-term Safety, Tolerability and Efficacy of Idebenone in Duchenne Muscular Dystrophy (DELPHI Extension)CompletedNCT00758225Phase 2

Search NIH Clinical Center for Duchenne Muscular Dystrophy

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Duchenne Muscular Dystrophy cell therapies at LifeMap Discovery.

Genetic Tests for Duchenne Muscular Dystrophy

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Genetic tests related to Duchenne Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Duchenne Muscular Dystrophy26 24

Anatomical Context for Duchenne Muscular Dystrophy

About this section

MalaCards organs/tissues related to Duchenne Muscular Dystrophy:

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

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Duchenne Muscular Dystrophy:
id TissueAnatomical CompartmentCell Relevance
1 AdiposeSubcutaneous White AdiposeMesenchymal Stem Cells Potential therapeutic candidate
2 Umbilical CordWharton's JellyMesenchymal Stem Cells Potential therapeutic candidate
3 AdiposeSubcutaneous White AdiposeStromal Cells Potential therapeutic candidate

Animal Models for Duchenne Muscular Dystrophy or affiliated genes

About this section

MGI Mouse Phenotypes related to Duchenne Muscular Dystrophy:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053849.5CAV3, CKM, DAG1, DMD, ITGA7, LTBP4
2MP:00036319.2AQP4, DAG1, DMD, DTNA, DTNBP1, ITGA7
3MP:00053679.2AQP4, DMD, DTNBP1, MSTN, NOS1, OTC
4MP:00053789.1AQP4, CKM, DAG1, DMD, DTNA, ITGA7
5MP:00053859.1AQP4, CAV3, CKM, DAG1, DMD, DTNA
6MP:00053869.1AQP4, DAG1, DMD, DTNA, DTNBP1, ITGA7
7MP:00053699.0CAV3, CKM, DAG1, DMD, DTNA, DTNBP1
8MP:00053768.8AQP4, CAV3, CKM, DAG1, DMD, DTNBP1

Publications for Duchenne Muscular Dystrophy

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Articles related to Duchenne Muscular Dystrophy:

(show top 50)    (show all 895)
idTitleAuthorsYear
1
Effects of teriparatide on bone mineral density and quality of life in Duchenne muscular dystrophy related osteoporosis: a case report. (27589974)
2016
2
Diffusion tensor imaging study in Duchenne muscular dystrophy. (27127762)
2016
3
Unique pattern of late gadolinium enhancement on cardiac magnetic resonance imaging in Duchenne muscular dystrophy. (27212861)
2016
4
Inhibition of muscle fibrosis results in increases in both utrophin levels and the number of revertant myofibers in Duchenne muscular dystrophy. (26015394)
2015
5
Opposing roles of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy. (25892183)
2015
6
Cardiac pathologies in female carriers of Duchenne muscular dystrophy assessed by cardiovascular magnetic resonance imaging. (25791640)
2015
7
Wild-type mouse models to screen antisense oligonucleotides for exon-skipping efficacy in duchenne muscular dystrophy. (25365558)
2014
8
A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier. (23574351)
2013
9
Biogenesis and function of non-coding RNAs in muscle differentiation and in Duchenne muscular dystrophy. (23863142)
2013
10
Duchenne muscular dystrophy fibroblast nodules: a cell-based assay for screening anti-fibrotic agents. (23552961)
2013
11
Independent living with Duchenne muscular dystrophy and home mechanical ventilation in areas of Japan with insufficient national welfare services. (23981723)
2013
12
Revertant fibers in the mdx murine model of Duchenne muscular dystrophy: an age- and muscle-related reappraisal. (24015212)
2013
13
Dual AAV therapy ameliorates exercise-induced muscle injury and functional ischemia in murine models of Duchenne muscular dystrophy. (23681067)
2013
14
Capillary electrophoresis for analysis of deletion and duplication in exon 44-55 of Duchenne muscular dystrophy gene. (23818053)
2013
15
Proteomic profiling of cardiomyopathic tissue from the aged mdx model of Duchenne muscular dystrophy reveals a drastic decrease in laminin, nidogen and annexin. (23713012)
2013
16
Neuropsychological and neurobehavioral functioning in Duchenne muscular dystrophy: a review. (23545331)
2013
17
Correlation between motor performance scales, body composition, and anthropometry in patients with Duchenne muscular dystrophy. (22975832)
2013
18
Rapid method for targeted prenatal diagnosis of Duchenne muscular dystrophy in Vietnam. (24411039)
2013
19
Neuropsychological Profile of Duchenne Muscular Dystrophy. (24279481)
2013
20
Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy. (23250964)
2013
21
Clinical trials using antisense oligonucleotides in duchenne muscular dystrophy. (23521559)
2013
22
Transition to adulthood for young men with Duchenne muscular dystrophy: research from the UK. (22425491)
2012
23
A critical review of functional assessment tools for upper limbs in Duchenne muscular dystrophy. (22713125)
2012
24
Drug treatment of Duchenne muscular dystrophy: available evidence and perspectives. (22655510)
2012
25
The Canadian experience with long-term deflazacort treatment in Duchenne muscular dystrophy. (22655512)
2012
26
Decreased resting energy expenditure in patients with Duchenne muscular dystrophy. (21632191)
2012
27
Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures. (22974002)
2012
28
Quality of life in Duchenne muscular dystrophy: the subjective impact on children and parents. (21482750)
2011
29
Discovery and SAR of 2-arylbenzotriazoles and 2-arylindazoles as potential treatments for Duchenne muscular dystrophy. (21741236)
2011
30
Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report. (21639928)
2011
31
14.1 T whole body MRI for detection of mesoangioblast stem cells in a murine model of Duchenne muscular dystrophy. (22086733)
2011
32
Elaboration and reliability of functional evaluation on going up and downstairs scale for Duchenne Muscular Dystrophy. (21340247)
2010
33
Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy. (21179598)
2010
34
Activin IIB receptor blockade attenuates dystrophic pathology in a mouse model of Duchenne muscular dystrophy. (20730876)
2010
35
Carvedilol can prevent cardiac events in Duchenne muscular dystrophy. (20647648)
2010
36
Duchenne muscular dystrophy. (20823012)
2010
37
Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy. (19416897)
2009
38
Influence of disease progression on the neuromuscular blocking effect of mivacurium in children and adolescents with Duchenne muscular dystrophy. (19352159)
2009
39
Nephrolithiasis in patients with duchenne muscular dystrophy. (17707891)
2007
40
Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy. (17880576)
2007
41
Menstrual blood-derived cells confer human dystrophin expression in the murine model of Duchenne muscular dystrophy via cell fusion and myogenic transdifferentiation. (17314403)
2007
42
Absence of alpha 7 integrin in dystrophin-deficient mice causes a myopathy similar to Duchenne muscular dystrophy. (16476707)
2006
43
Cloning of cDNA encoding a regeneration-associated muscle protease whose expression is attenuated in cell lines derived from Duchenne muscular dystrophy patients. (15111323)
2004
44
New aspects of calcium signaling in skeletal muscle cells: implications in Duchenne muscular dystrophy. (12445457)
2002
45
Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy. (11087833)
2000
46
Hypercoagulable state in Duchenne muscular dystrophy]. (9294322)
1997
47
Cystic fibrosis, Duchenne muscular dystrophy and preimplantation genetic diagnosis. (9111186)
1996
48
Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family. (8199594)
1994
49
Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma. (8469343)
1993
50
Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy. (1877622)
1991

Variations for Duchenne Muscular Dystrophy

About this section

UniProtKB/Swiss-Prot genetic disease variations for Duchenne Muscular Dystrophy:

69
id Symbol AA change Variation ID SNP ID
1DMDp.Leu54ArgVAR_005147
2DMDp.Lys773GluVAR_005154
3DMDp.Asp645GlyVAR_023541
4DMDp.Cys3313PheVAR_023545
5DMDp.Asp3335HisVAR_023546
6DMDp.Cys3340TyrVAR_023547

Clinvar genetic disease variations for Duchenne Muscular Dystrophy:

5 (show all 320)
id Gene Variation Type Significance SNP ID Assembly Location
1DMDNM_004006.2(DMD): c.3469G> T (p.Glu1157Ter)SNVPathogenicrs128625226GRCh37Chr X, 32472913: 32472913
2DMDNM_004006.2(DMD): c.2791G> T (p.Glu931Ter)SNVPathogenicrs128625227GRCh37Chr X, 32503048: 32503048
3DMDNM_004006.2(DMD): c.5551C> T (p.Gln1851Ter)SNVPathogenicrs128625228GRCh37Chr X, 32364095: 32364095
4DMDNM_004006.2(DMD): c.8944C> T (p.Arg2982Ter)SNVPathogenicrs128625229GRCh37Chr X, 31462738: 31462738
5DMDDMD, IVS68, T-A, +2SNVPathogenicChr na, -1: -1
6DMDNM_004006.2(DMD): c.10108C> T (p.Arg3370Ter)SNVPathogenicrs104894787GRCh37Chr X, 31196901: 31196901
7DMDDMD, EX73-76DELdeletionPathogenicChr na, -1: -1
8DMDDMD, 1-BP DEL, 10662TdeletionPathogenicChr na, -1: -1
9DMDDMD, 1-BP INS, EX12insertionPathogenicChr na, -1: -1
10DMDDMD, AG-T, EX48undetermined variantPathogenicChr na, -1: -1
11DMDDMD, EX21DELdeletionPathogenicChr na, -1: -1
12DMDDMD, EX18DELdeletionPathogenicChr na, -1: -1
13DMDNM_004006.2(DMD): c.6955C> T (p.Gln2319Ter)SNVPathogenicrs128625230GRCh37Chr X, 31893448: 31893448
14DMDNM_004006.2(DMD): c.253C> T (p.Gln85Ter)SNVPathogenicrs128626234GRCh37Chr X, 32862911: 32862911
15DMDNM_004006.2(DMD): c.2302C> T (p.Arg768Ter)SNVPathogenicrs201366610GRCh37Chr X, 32519950: 32519950
16DMDDMD, 1-BP DEL, 2568CdeletionPathogenicChr na, -1: -1
17DMDNM_004006.2(DMD): c.2314G> T (p.Glu772Ter)SNVPathogenicrs267606770GRCh37Chr X, 32519938: 32519938
18DMDNM_004006.2(DMD): c.433C> T (p.Arg145Ter)SNVPathogenicrs128626235GRCh37Chr X, 32834682: 32834682
19DMDNM_004006.2(DMD): c.161T> G (p.Leu54Arg)SNVPathogenicrs128626231GRCh37Chr X, 32867870: 32867870
20DMDDMD, IVS26, T-G, +2SNVPathogenicChr na, -1: -1
21DMDDMD, 1-BP DEL, 724CdeletionPathogenicChr na, -1: -1
22DMDNM_004006.2(DMD): c.2017C> T (p.Gln673Ter)SNVPathogenicrs128626232GRCh37Chr X, 32563427: 32563427
23DMDDMD, 1-BP DEL, 10334C AND IVS69, G-T, +1deletionPathogenicChr na, -1: -1
24DMDNM_004006.2(DMD): c.178C> T (p.Gln60Ter)SNVPathogenicrs128626233GRCh37Chr X, 32867853: 32867853
25DMDDMD, 1-BP INS, 402AinsertionPathogenicChr na, -1: -1
26DMDNM_000109.3(DMD): c.700C> T (p.Gln234Ter)SNVPathogenicrs128626238GRCh37Chr X, 32717336: 32717336
27DMDNM_004006.2(DMD): c.748G> T (p.Glu250Ter)SNVPathogenicrs128626239GRCh37Chr X, 32717312: 32717312
28DMDDMD, 11-BP DEL, NT989deletionPathogenicChr na, -1: -1
29DMDDMD, 1-BP INS, NT1554insertionPathogenicChr na, -1: -1
30DMDNM_004006.2(DMD): c.1489C> T (p.Gln497Ter)SNVPathogenicrs128626241GRCh37Chr X, 32613987: 32613987
31DMDNM_004006.2(DMD): c.1952G> A (p.Trp651Ter)SNVPathogenicrs128626242GRCh37Chr X, 32583859: 32583859
32DMDNM_004006.2(DMD): c.2308A> T (p.Lys770Ter)SNVPathogenicrs128626243GRCh37Chr X, 32519944: 32519944
33DMDNM_004006.2(DMD): c.2317A> G (p.Lys773Glu)SNVPathogenicrs128626244GRCh37Chr X, 32519935: 32519935
34DMDDMD, 52-BP DELdeletionPathogenicChr na, -1: -1
35DMDDMD, 1-BP INS, NT2928insertionPathogenicChr na, -1: -1
36DMDNM_004006.2(DMD): c.3121C> T (p.Gln1041Ter)SNVPathogenicrs128626245GRCh37Chr X, 32486656: 32486656
37DMDNM_004006.2(DMD): c.3188G> A (p.Trp1063Ter)SNVPathogenicrs128626246GRCh37Chr X, 32482791: 32482791
38DMDNM_004006.2(DMD): c.4213C> T (p.Gln1405Ter)SNVPathogenicrs128626247GRCh37Chr X, 32429889: 32429889
39DMDNM_004006.2(DMD): c.4414C> T (p.Gln1472Ter)SNVPathogenicrs128626248GRCh37Chr X, 32407722: 32407722
40DMDNM_004006.2(DMD): c.5899C> T (p.Arg1967Ter)SNVPathogenicrs128626249GRCh37Chr X, 32360240: 32360240
41DMDDMD, 1-BP DEL, 6408CdeletionPathogenicChr na, -1: -1
42DMDNM_004006.2(DMD): c.6292C> T (p.Arg2098Ter)SNVPathogenicrs128626250GRCh37Chr X, 32235179: 32235179
43DMDNM_004006.2(DMD): c.6373C> T (p.Gln2125Ter)SNVPathogenicrs128626251GRCh37Chr X, 32235098: 32235098
44DMDDMD, 17-BP DEL, NT6982deletionPathogenicChr na, -1: -1
45DMDNM_004006.2(DMD): c.6790C> T (p.Gln2264Ter)SNVPathogenicrs128626252GRCh37Chr X, 31947835: 31947835
46DMDDMD, 1-BP INS, 7188AinsertionPathogenicChr na, -1: -1
47DMDDMD, IVS47, G-A, +1, EX48DELdeletionPathogenicChr na, -1: -1
48DMDNM_004006.2(DMD): c.7402G> T (p.Glu2468Ter)SNVPathogenicrs128626253GRCh37Chr X, 31792217: 31792217
49DMDNM_004006.2(DMD): c.9197C> A (p.Ser3066Ter)SNVPathogenicrs128626254GRCh37Chr X, 31341742: 31341742
50DMDDMD, 4-BP DEL, NT9679deletionPathogenicChr na, -1: -1
51DMDDMD, IVS65, G-A, +1SNVPathogenicChr na, -1: -1
52DMDNM_004006.2(DMD): c.10141C> T (p.Arg3381Ter)SNVPathogenicrs104894790GRCh37Chr X, 31196868: 31196868
53DMDDMD, IVS70, G-T, +5SNVPathogenicChr na, -1: -1
54DMDDMD, 8-BP DEL, 1-BP INS, NT10692indelPathogenicChr na, -1: -1
55DMDNM_004006.2(DMD): c.9568C> T (p.Arg3190Ter)SNVPathogenicrs104894797GRCh37Chr X, 31224780: 31224780
56DMDNM_004006.2(DMD): c.3940C> T (p.Arg1314Ter)SNVPathogenicrs5030730GRCh37Chr X, 32456489: 32456489
57DMDDMD, 1-BP DEL, 377AdeletionPathogenicChr na, -1: -1
58DMDNM_004006.2(DMD): c.8713C> T (p.Arg2905Ter)SNVPathogenicrs128627256GRCh37Chr X, 31496447: 31496447
59DMDNM_004006.2(DMD): c.5985T> G (p.Tyr1995Ter)SNVPathogenicrs128627257GRCh37Chr X, 32328331: 32328331
60DMDNM_004006.2(DMD): c.1812+1G> ASNVLikely pathogenic, Pathogenicrs373286166GRCh37Chr X, 32591646: 32591646
61DMDNM_004006.2(DMD): c.9164-1G> CSNVPathogenicrs398124082GRCh37Chr X, 31341776: 31341776
62DMDNM_004006.2(DMD): c.8680G> T (p.Glu2894Ter)SNVPathogenicrs727503802GRCh37Chr X, 31496480: 31496480
63DMDNM_004006.2(DMD): c.5363C> G (p.Ser1788Ter)SNVPathogenicrs199774535GRCh37Chr X, 32366608: 32366608
64DMDNM_004006.2(DMD): c.4806A> T (p.Gly1602=)SNVPathogenicrs727503830GRCh37Chr X, 32398666: 32398666
65DMDNM_004006.2(DMD): c.3532G> T (p.Glu1178Ter)SNVPathogenicrs727503836GRCh38Chr X, 32454733: 32454733
66DMDNM_004006.2(DMD): c.2956C> T (p.Gln986Ter)SNVPathogenicrs727503844GRCh37Chr X, 32486821: 32486821
67DMDNM_004006.2(DMD): c.2755A> T (p.Lys919Ter)SNVPathogenicrs727503850GRCh38Chr X, 32484967: 32484967
68DMDNM_004006.2(DMD): c.2484T> G (p.Tyr828Ter)SNVPathogenicrs727503858GRCh37Chr X, 32509532: 32509532
69DMDNM_004006.2(DMD): c.883C> T (p.Arg295Ter)SNVPathogenicrs727503864GRCh38Chr X, 32697947: 32697947
70DMDNM_004006.2(DMD): c.14_15delAAinsT (p.Glu5Valfs)indelPathogenicrs796065325GRCh37Chr X, 33229415: 33229416
71DMDNM_004006.2(DMD): c.1093C> T (p.Gln365Ter)SNVPathogenicrs794726993GRCh37Chr X, 32663137: 32663137
72DMDNM_004006.2(DMD): c.1070delC (p.Ser357Leufs)deletionPathogenicrs794726994GRCh37Chr X, 32663160: 32663160
73DMDNM_004006.2(DMD): c.1286C> G (p.Ser429Ter)SNVPathogenicrs398123853GRCh37Chr X, 32662294: 32662294
74DMDNM_004006.2(DMD): c.1150-2A> GSNVPathogenicrs794727030GRCh37Chr X, 32662432: 32662432
75DMDNM_004006.2(DMD): c.1533_1536delTCAC (p.His512Trpfs)deletionPathogenicrs794727097GRCh37Chr X, 32613940: 32613943
76DMDNM_004006.2(DMD): c.1704+1G> ASNVPathogenicrs794727123GRCh37Chr X, 32591861: 32591861
77DMDNM_004006.2(DMD): c.1912C> T (p.Gln638Ter)SNVPathogenicrs794727170GRCh37Chr X, 32583899: 32583899
78DMDNM_004006.2(DMD): c.2601_2602delAA (p.Gln869Valfs)deletionPathogenicrs794727322GRCh37Chr X, 32509414: 32509415
79DMDNM_004006.2(DMD): c.2479G> T (p.Glu827Ter)SNVPathogenicrs794727323GRCh37Chr X, 32509537: 32509537
80DMDNM_004006.2(DMD): c.2803+1G> CSNVPathogenicrs398123908GRCh37Chr X, 32503035: 32503035
81DMDNM_004006.2(DMD): c.2804-2A> TSNVPathogenicrs794727357GRCh37Chr X, 32490428: 32490428
82DMDNM_004006.2(DMD): c.2815_2816delTT (p.Leu939Alafs)deletionPathogenicrs794727358GRCh37Chr X, 32490414: 32490415
83DMDNM_004006.2(DMD): c.2933_2934delGA (p.Arg978Thrfs)deletionPathogenicrs794727359GRCh37Chr X, 32490296: 32490297
84DMDNM_004006.2(DMD): c.3497_3500delTATC (p.Leu1166Glnfs)deletionPathogenicrs794727421GRCh37Chr X, 32472882: 32472885
85DMDNM_004006.2(DMD): c.3535G> T (p.Glu1179Ter)SNVPathogenicrs794727422GRCh37Chr X, 32472847: 32472847
86DMDNM_004006.2(DMD): c.3838A> T (p.Lys1280Ter)SNVPathogenicrs794727463GRCh37Chr X, 32459380: 32459380
87DMDNM_004006.2(DMD): c.133C> T (p.Gln45Ter)SNVPathogenicrs794727499GRCh38Chr X, 32849781: 32849781
88DMDNM_004006.2(DMD): c.4315A> T (p.Arg1439Ter)SNVPathogenicrs794727550GRCh37Chr X, 32408217: 32408217
89DMDNM_004006.2(DMD): c.4523delT (p.Leu1508Cysfs)deletionPathogenicrs794727567GRCh37Chr X, 32404578: 32404578
90DMDNM_004006.2(DMD): c.4675-2A> GSNVPathogenicrs794727575GRCh37Chr X, 32398799: 32398799
91DMDNM_004006.2(DMD): c.5697delA (p.Lys1899Asnfs)deletionPathogenicrs794727661GRCh37Chr X, 32361293: 32361293
92DMDNM_004006.2(DMD): c.5868G> A (p.Trp1956Ter)SNVPathogenicrs794727666GRCh37Chr X, 32360271: 32360271
93DMDNM_004006.2(DMD): c.6238delC (p.Gln2080Serfs)deletionPathogenicrs794727672GRCh37Chr X, 32305698: 32305698
94DMDNM_004006.2(DMD): c.6673_6674insGTTT (p.Leu2225Cysfs)insertionPathogenicrs797044743GRCh37Chr X, 31950285: 31950286
95DMDNM_004006.2(DMD): c.6982A> T (p.Lys2328Ter)SNVPathogenicrs754896795GRCh37Chr X, 31893421: 31893421
96DMDNM_004006.2(DMD): c.291dupT (p.Asp98Terfs)duplicationPathogenicrs797044756GRCh37Chr X, 32841478: 32841478
97DMDNM_004006.2(DMD): c.7247dupT (p.Leu2416Phefs)duplicationPathogenicrs797044764GRCh37Chr X, 31838154: 31838154
98DMDNM_004006.2(DMD): c.7295_7296delCC (p.Thr2432Asnfs)deletionPathogenicrs794727746GRCh37Chr X, 31838105: 31838106
99DMDNM_004006.2(DMD): c.7444delC (p.Thr2483Profs)deletionPathogenicrs794727749GRCh37Chr X, 31792175: 31792175
100DMDNM_004006.2(DMD): c.8184delC (p.Lys2729Argfs)deletionPathogenicrs794727763GRCh37Chr X, 31645823: 31645823
101DMDNM_004006.2(DMD): c.8656C> T (p.Gln2886Ter)SNVPathogenicrs201361100GRCh37Chr X, 31497112: 31497112
102DMDNM_004006.2(DMD): c.8669-2A> CSNVPathogenicrs794727770GRCh37Chr X, 31496493: 31496493
103DMDNM_004006.2(DMD): c.415_428delATTCTCCTGAGCTG (p.Ile139Glyfs)deletionPathogenicrs794727795GRCh37Chr X, 32834687: 32834700
104DMDNM_004006.2(DMD): c.9216C> G (p.Tyr3072Ter)SNVPathogenicrs794727820GRCh37Chr X, 31341723: 31341723
105DMDNM_004006.2(DMD): c.9978C> G (p.Tyr3326Ter)SNVPathogenicrs794727832GRCh37Chr X, 31198595: 31198595
106DMDNM_004006.2(DMD): c.565C> T (p.Gln189Ter)SNVPathogenicrs794727861GRCh37Chr X, 32827694: 32827694
107DMDNM_004006.2(DMD): c.547dupT (p.Trp183Leufs)duplicationPathogenicrs796065333GRCh38Chr X, 32809595: 32809595
108DMDNM_004006.2(DMD): c.627delA (p.Ile209Metfs)deletionPathogenicrs794727862GRCh37Chr X, 32827632: 32827632
109DMDNM_004006.2(DMD): c.572C> G (p.Ser191Ter)SNVPathogenicrs794727863GRCh37Chr X, 32827687: 32827687
110DMDNM_004006.2(DMD): c.10554-2A> GSNVPathogenicrs794727890GRCh37Chr X, 31165637: 31165637
111DMDNM_004006.2(DMD): c.6614+3310G> TSNVLikely pathogenicrs797045526GRCh38Chr X, 31965029: 31965029
112DMDNM_004006.2(DMD): c.4000G> T (p.Gly1334Ter)SNVLikely pathogenicrs146880270GRCh38Chr X, 32438312: 32438312
113DMDNM_004006.2(DMD): c.10133delA (p.Asn3378Thrfs)deletionPathogenicrs863224975GRCh37Chr X, 31196876: 31196876
114DMDNM_004006.2(DMD): c.10223+1G> CSNVPathogenicrs398123834GRCh37Chr X, 31196785: 31196785
115DMDNM_004006.2(DMD): c.10412T> G (p.Leu3471Ter)SNVPathogenicrs863224976GRCh38Chr X, 31169584: 31169584
116DMDNM_004006.2(DMD): c.10504G> T (p.Glu3502Ter)SNVPathogenicrs863224977GRCh37Chr X, 31187609: 31187609
117DMDNM_004006.2(DMD): c.1150-2deldeletionPathogenicrs863224978GRCh37Chr X, 32662432: 32662432
118DMDNM_004006.2(DMD): c.1324C> T (p.Gln442Ter)SNVPathogenicrs863224979GRCh38Chr X, 32644139: 32644139
119DMDNM_004006.2(DMD): c.1331+1G> ASNVPathogenicrs863224980GRCh38Chr X, 32644131: 32644131
120DMDNM_004006.2(DMD): c.1388G> A (p.Trp463Ter)SNVPathogenicrs863224981GRCh38Chr X, 32614397: 32614397
121DMDNM_004006.2(DMD): c.1483-1G> CSNVPathogenicrs863224982GRCh37Chr X, 32613994: 32613994
122DMDNM_004006.2(DMD): c.1663C> T (p.Gln555Ter)SNVPathogenicrs863224983GRCh38Chr X, 32573786: 32573786
123DMDNM_004006.2(DMD): c.1683G> A (p.Trp561Ter)SNVPathogenicrs863224984GRCh38Chr X, 32573766: 32573766
124DMDNM_004006.2(DMD): c.2215G> T (p.Glu739Ter)SNVPathogenicrs863224985GRCh38Chr X, 32518085: 32518085
125DMDNM_004006.2(DMD): c.2368C> T (p.Gln790Ter)SNVPathogenicrs762860653GRCh37Chr X, 32519884: 32519884
126DMDNM_004006.2(DMD): c.2407C> T (p.Gln803Ter)SNVPathogenicrs863224986GRCh38Chr X, 32491492: 32491492
127DMDNM_004006.2(DMD): c.2611A> T (p.Lys871Ter)SNVPathogenicrs863224987GRCh38Chr X, 32491288: 32491288
128DMDNM_004006.2(DMD): c.2623-3C> GSNVPathogenicrs863224988GRCh37Chr X, 32503219: 32503219
129DMDNM_004006.2(DMD): c.265-2A> GSNVPathogenicrs863224989GRCh37Chr X, 32841506: 32841506
130DMDNM_004006.2(DMD): c.2797C> T (p.Gln933Ter)SNVPathogenicrs756949497GRCh38Chr X, 32484925: 32484925
131DMDNM_004006.2(DMD): c.280delA (p.Ile94Leufs)deletionPathogenicrs863224990GRCh37Chr X, 32841489: 32841489
132DMDNM_004006.2(DMD): c.2804-2A> CSNVPathogenicrs794727357GRCh37Chr X, 32490428: 32490428
133DMDNM_004006.2(DMD): c.282dupT (p.Gly95Trpfs)duplicationPathogenicrs863224991GRCh37Chr X, 32841487: 32841487
134DMDNM_004006.2(DMD): c.2991C> G (p.Tyr997Ter)SNVPathogenicrs863224992GRCh38Chr X, 32468669: 32468669
135DMDNM_004006.2(DMD): c.3427C> T (p.Gln1143Ter)SNVPathogenicrs863224993GRCh37Chr X, 32481561: 32481561
136DMDNM_004006.2(DMD): c.3433-5_3434deldeletionPathogenicrs863224994GRCh38Chr X, 32454831: 32454837
137DMDNM_004006.2(DMD): c.355C> T (p.Gln119Ter)SNVPathogenicrs863224995GRCh38Chr X, 32823297: 32823297
138DMDNM_004006.2(DMD): c.358-2A> GSNVPathogenicrs863224996GRCh38Chr X, 32816642: 32816642
139DMDNM_004006.2(DMD): c.4240C> T (p.Gln1414Ter)SNVPathogenicrs863224997GRCh37Chr X, 32408292: 32408292
140DMDNM_004006.2(DMD): c.4606G> T (p.Glu1536Ter)SNVPathogenicrs863224998GRCh37Chr X, 32404495: 32404495
141DMDNM_004006.2(DMD): c.4729C> T (p.Arg1577Ter)SNVPathogenicrs863224999GRCh37Chr X, 32398743: 32398743
142DMDNM_004006.2(DMD): c.4918delA (p.Thr1640Glnfs)deletionPathogenicrs863225000GRCh37Chr X, 32383244: 32383244
143DMDNM_004006.2(DMD): c.5131C> T (p.Gln1711Ter)SNVPathogenicrs863225001GRCh38Chr X, 32364605: 32364605
144DMDNM_004006.2(DMD): c.5350G> T (p.Glu1784Ter)SNVPathogenicrs777864641GRCh37Chr X, 32366621: 32366621
145DMDNM_004006.2(DMD): c.5461G> T (p.Glu1821Ter)SNVPathogenicrs863225002GRCh38Chr X, 32346068: 32346068
146DMDNM_004006.2(DMD): c.5602_5605delAGAA (p.Arg1868Glufs)deletionPathogenicrs863225003GRCh37Chr X, 32361385: 32361388
147DMDNM_004006.2(DMD): c.5641C> T (p.Gln1881Ter)SNVPathogenicrs863225004GRCh38Chr X, 32343232: 32343232
148DMDNM_004006.2(DMD): c.5917C> T (p.Gln1973Ter)SNVPathogenicrs863225005GRCh38Chr X, 32342105: 32342105
149DMDNM_004006.2(DMD): c.6128_6131delATAG (p.Asp2043Valfs)deletionPathogenicrs863225006GRCh38Chr X, 32287688: 32287691
150DMDNM_004006.2(DMD): c.6611dupA (p.Arg2205Glufs)duplicationPathogenicrs863225007GRCh38Chr X, 31968342: 31968342
151DMDNM_004006.2(DMD): c.7105G> T (p.Glu2369Ter)SNVPathogenicrs863225008GRCh37Chr X, 31854930: 31854930
152DMDNM_004006.2(DMD): c.7755G> A (p.Trp2585Ter)SNVPathogenicrs762394978GRCh38Chr X, 31679492: 31679492
153DMDNM_004006.2(DMD): c.7817G> A (p.Trp2606Ter)SNVPathogenicrs863225009GRCh38Chr X, 31679430: 31679430
154DMDNM_004006.2(DMD): c.8027+2T> ASNVPathogenicrs863225010GRCh38Chr X, 31657988: 31657988
155DMDNM_004006.2(DMD): c.8038C> T (p.Arg2680Ter)SNVPathogenicrs863225011GRCh37Chr X, 31645969: 31645969
156DMDNM_004006.2(DMD): c.8357G> A (p.Trp2786Ter)SNVPathogenicrs863225012GRCh38Chr X, 31507314: 31507314
157DMDNM_004006.2(DMD): c.8390+2T> CSNVPathogenicrs863225013GRCh38Chr X, 31507279: 31507279
158DMDNM_004006.2(DMD): c.8970_8971delGA (p.Asn2991Argfs)deletionPathogenicrs863225014GRCh38Chr X, 31444594: 31444595
159DMDNM_004006.2(DMD): c.9204_9207delCAAA (p.Asn3068Lysfs)deletionPathogenicrs863225015GRCh38Chr X, 31323615: 31323618
160DMDNM_004006.2(DMD): c.94-1G> ASNVPathogenicrs863225016GRCh37Chr X, 32867938: 32867938
161DMDNM_004006.2(DMD): c.9551dupA (p.Asn3184Lysfs)duplicationPathogenicrs863225017GRCh37Chr X, 31227627: 31227627
162DMDNM_004006.2(DMD): c.9938_9941dupGTAA (p.Asn3314Lysfs)duplicationPathogenicrs863225018GRCh37Chr X, 31200888: 31200891
163DMDNM_004006.2(DMD): c.10509_10510delAG (p.Glu3505Alafs)deletionLikely pathogenicrs878854366GRCh37Chr X, 31187603: 31187604
164DMDNM_004006.2(DMD): c.6502G> T (p.Glu2168Ter)SNVPathogenicrs779739455GRCh38Chr X, 31968451: 31968451
165DMDNM_004006.2(DMD): c.1504C> T (p.Gln502Ter)SNVPathogenicrs878854618GRCh38Chr X, 32595855: 32595855
166DMDNM_004006.2(DMD): c.1705-1G> TSNVPathogenicrs878854619GRCh37Chr X, 32591755: 32591755
167DMDNM_004006.2(DMD): c.4870C> T (p.Gln1624Ter)SNVPathogenicrs762250680GRCh37Chr X, 32383292: 32383292
168DMDNM_004006.2(DMD): c.5506C> T (p.Gln1836Ter)SNVPathogenicrs770845480GRCh38Chr X, 32346023: 32346023
169DMDNM_004006.2(DMD): c.7781delA (p.Gln2594Argfs)deletionPathogenicrs878854621GRCh38Chr X, 31679466: 31679466
170DMDNM_004006.2(DMD): c.7661-?_10921+?deldeletionPathogenicChr na, -1: -1
171DMDNM_004006.2(DMD): c.94-?_4233+?deldeletionPathogenicChr na, -1: -1
172DMDNM_004006.2(DMD): c.32-?_93+?dupduplicationPathogenicChr na, -1: -1
173DMDNM_004006.2(DMD): c.10150delA (p.Arg3384Glyfs)deletionPathogenicrs886039663GRCh37Chr X, 31196859: 31196859
174DMDNM_004006.2(DMD): c.8459G> A (p.Trp2820Ter)SNVLikely pathogenicrs886039785GRCh37Chr X, 31514993: 31514993
175DMDNM_004006.2(DMD): c.31+36947G> ASNVPathogenicrs886042106GRCh37Chr X, 33192452: 33192452
176DMDNM_004006.2(DMD): c.8217+18052A> GSNVLikely pathogenicrs886042109GRCh37Chr X, 31627738: 31627738
177DMDNM_004006.2(DMD): c.5032C> T (p.Gln1678Ter)SNVPathogenicrs886042154GRCh37Chr X, 32382821: 32382821
178DMDNM_004006.2(DMD): c.5089C> T (p.Gln1697Ter)SNVPathogenicrs886042347GRCh37Chr X, 32382764: 32382764
179DMDNM_004006.2(DMD): c.2603delG (p.Ser868Ilefs)deletionPathogenicrs886042348GRCh37Chr X, 32509413: 32509413
180DMDNM_004006.2(DMD): c.2512C> T (p.Gln838Ter)SNVPathogenicrs886042351GRCh37Chr X, 32509504: 32509504
181DMDNM_004006.2(DMD): c.8111_8112insTTGCCTG (p.Trp2704Cysfs)insertionPathogenicrs886042373GRCh37Chr X, 31645895: 31645896
182DMDNM_004006.2(DMD): c.2316_2317delGA (p.Lys773Valfs)deletionPathogenicrs886042437GRCh37Chr X, 32519935: 32519936
183DMDNM_004006.2(DMD): c.10477C> T (p.Gln3493Ter)SNVPathogenicrs886042495GRCh37Chr X, 31187636: 31187636
184DMDNM_004006.2(DMD): c.1417A> T (p.Lys473Ter)SNVPathogenicrs886042499GRCh37Chr X, 32632485: 32632485
185DMDNM_004006.2(DMD): c.93+1G> ASNVPathogenicrs886042604GRCh37Chr X, 33038255: 33038255
186DMDNM_004006.2(DMD): c.1387_1408del22 (p.Trp463Glufs)deletionPathogenicrs886042616GRCh37Chr X, 32632494: 32632515
187DMDNM_004006.2(DMD): c.2168+2T> GSNVPathogenicrs886042618GRCh37Chr X, 32563274: 32563274
188DMDNM_004006.2(DMD): c.10279C> T (p.Gln3427Ter)SNVPathogenicrs886042691GRCh37Chr X, 31191705: 31191705
189DMDNM_004006.2(DMD): c.5140G> T (p.Glu1714Ter)SNVPathogenicrs886042747GRCh37Chr X, 32382713: 32382713
190DMDNM_004006.2(DMD): c.1047dupA (p.Glu350Argfs)duplicationPathogenicGRCh38Chr X, 32645066: 32645066
191DMDNM_004006.2(DMD): c.10101_10103delAGA (p.Glu3367del)deletionPathogenicrs886042840GRCh37Chr X, 31196906: 31196908
192DMDNM_004006.2(DMD): c.10062T> A (p.Tyr3354Ter)SNVPathogenicrs886042875GRCh37Chr X, 31198511: 31198511
193DMDNM_004006.2(DMD): c.649+1G> TSNVPathogenicrs398124032GRCh37Chr X, 32827609: 32827609
194DMDNM_004006.2(DMD): c.457C> T (p.Gln153Ter)SNVPathogenicrs886042983GRCh37Chr X, 32834658: 32834658
195DMDNM_004006.2(DMD): c.5739+1G> TSNVPathogenicrs886043041GRCh37Chr X, 32361250: 32361250
196DMDNM_004006.2(DMD): c.3238delG (p.Asp1080Ilefs)deletionPathogenicrs886043052GRCh37Chr X, 32482741: 32482741
197DMDNM_004006.2(DMD): c.10361delA (p.Tyr3454Phefs)deletionPathogenicrs886043084GRCh37Chr X, 31190498: 31190498
198DMDNM_004006.2(DMD): c.319dupA (p.Thr107Asnfs)duplicationPathogenicGRCh37Chr X, 32841450: 32841450
199DMDNM_004006.2(DMD): c.6393_6394insCA (p.Ile2132Glnfs)insertionPathogenicrs886043157GRCh37Chr X, 32235077: 32235078
200DMDNM_004006.2(DMD): c.1594C> T (p.Gln532Ter)SNVPathogenicrs763936813GRCh37Chr X, 32613882: 32613882
201DMDNM_004006.2(DMD): c.1150-1G> ASNVPathogenicrs886043251GRCh37Chr X, 32662431: 32662431
202DMDNM_004006.2(DMD): c.179_180insGGGCA (p.Lys61Glyfs)insertionPathogenicrs886043288GRCh37Chr X, 32867851: 32867852
203DMDNM_004006.2(DMD): c.1482+1G> CSNVPathogenicrs398123862GRCh37Chr X, 32632419: 32632419
204DMDNM_004006.2(DMD): c.4550_4556delCTGAAGT (p.Ser1517Trpfs)deletionPathogenicrs886043348GRCh37Chr X, 32404545: 32404551
205DMDNM_004006.2(DMD): c.10453delC (p.Leu3485Terfs)deletionPathogenicrs886043375GRCh37Chr X, 31187660: 31187660
206DMDNM_004006.2(DMD): c.1530dupC (p.Thr511Hisfs)duplicationPathogenicrs886043376GRCh37Chr X, 32613946: 32613946
207DMDNM_004006.2(DMD): c.6223C> T (p.Gln2075Ter)SNVPathogenicrs886043428GRCh37Chr X, 32305713: 32305713
208DMDNM_004006.2(DMD): c.4174C> T (p.Gln1392Ter)SNVPathogenicrs886043496GRCh37Chr X, 32429928: 32429928
209DMDNC_000023.10: g.32472914_32472915delCCinsGindelPathogenicGRCh37Chr X, 32472914: 32472915
210DMDNM_004006.2(DMD): c.3747G> A (p.Trp1249Ter)SNVPathogenicrs886043635GRCh37Chr X, 32466612: 32466612
211DMDNM_004006.2(DMD): c.1956delT (p.Asp652Glufs)deletionPathogenicrs886043640GRCh37Chr X, 32583855: 32583855
212DMDNM_004006.2(DMD): c.10126delC (p.Leu3376Terfs)deletionPathogenicrs886043676GRCh37Chr X, 31196883: 31196883
213DMDNM_004006.2(DMD): c.2052_2053delAG (p.Val685Asnfs)deletionPathogenicrs886043699GRCh38Chr X, 32545274: 32545275
214DMDNM_004006.2(DMD): c.5360dupA (p.Asn1787Lysfs)duplicationPathogenicGRCh37Chr X, 32366611: 32366611
215DMDNM_004006.2(DMD): c.10572T> A (p.Tyr3524Ter)SNVPathogenicrs886043817GRCh37Chr X, 31165617: 31165617
216DMDNM_004006.2(DMD): c.186+2T> ASNVPathogenicrs886043822GRCh37Chr X, 32867843: 32867843
217DMDNM_004006.2(DMD): c.2861G> A (p.Trp954Ter)SNVPathogenicrs886043909GRCh37Chr X, 32490369: 32490369
218DMDNM_004006.2(DMD): c.9563+1G> ASNVPathogenicrs886043989GRCh37Chr X, 31227614: 31227614
219DMDNM_004006.2(DMD): c.4483C> T (p.Gln1495Ter)SNVPathogenicrs748769566GRCh37Chr X, 32407653: 32407653
220DMDNM_004006.2(DMD): c.5881_5882delAG (p.Ser1961Glnfs)deletionPathogenicrs886044193GRCh37Chr X, 32360257: 32360258
221DMDNM_004006.2(DMD): c.8669-1G> CSNVPathogenicrs886044324GRCh37Chr X, 31496492: 31496492
222DMDNM_004006.2(DMD): c.10651_10652insCC (p.Gln3551Profs)insertionPathogenicrs886044325GRCh37Chr X, 31165537: 31165538
223DMDNM_004006.2(DMD): c.4312C> T (p.Gln1438Ter)SNVPathogenicrs886044402GRCh37Chr X, 32408220: 32408220
224DMDNM_004006.2(DMD): c.1534_1535insTC (p.His512Leufs)insertionPathogenicrs886044440GRCh37Chr X, 32613941: 32613942
225DMDNM_004006.2(DMD): c.5344G> T (p.Glu1782Ter)SNVPathogenicrs886044455GRCh37Chr X, 32366627: 32366627
226DMDNM_004006.2(DMD): c.6804_6807delACAA (p.Lys2268Asnfs)deletionPathogenicrs886044490GRCh37Chr X, 31947818: 31947821
227DMDNM_004006.2(DMD): c.93+1_93+5delGTAAGdeletionPathogenicrs886044495GRCh37Chr X, 33038251: 33038255
228DMDNM_004006.2(DMD): c.1128dupA (p.Asp377Argfs)duplicationPathogenicrs886044624GRCh37Chr X, 32663102: 32663102
229DMDNM_004006.2(DMD): c.9G> A (p.Trp3Ter)SNVPathogenicrs398122853GRCh37Chr X, 33229421: 33229421
230DMDNM_004006.2(DMD): c.10033C> T (p.Arg3345Ter)SNVPathogenicrs398123827GRCh37Chr X, 31198540: 31198540
231DMDNM_004006.2(DMD): c.10086+1G> ASNVPathogenicrs398123828GRCh37Chr X, 31198486: 31198486
232DMDNM_004006.2(DMD): c.1012G> T (p.Glu338Ter)SNVPathogenicrs398123830GRCh37Chr X, 32663218: 32663218
233DMDNM_004006.2(DMD): c.10171C> T (p.Arg3391Ter)SNVPathogenicrs398123832GRCh37Chr X, 31196838: 31196838
234DMDNM_004019.2(DMD): c.1020G> A (p.Thr340=)SNVPathogenicrs398123834GRCh37Chr X, 31196785: 31196785
235DMDNM_004006.2(DMD): c.10258dupT (p.Ser3420Phefs)duplicationPathogenicrs398123835GRCh37Chr X, 31196053: 31196053
236DMDNM_004006.2(DMD): c.10446_10447delCT (p.Ser3483Profs)deletionPathogenicrs398123837GRCh37Chr X, 31187666: 31187667
237DMDNM_004006.2(DMD): c.10454delT (p.Leu3485Argfs)deletionPathogenicrs398123839GRCh37Chr X, 31187659: 31187659
238DMDNM_004006.2(DMD): c.1048G> T (p.Glu350Ter)SNVPathogenicrs398123840GRCh37Chr X, 32663182: 32663182
239DMDNM_004006.2(DMD): c.10625delC (p.Pro3542Leufs)deletionPathogenicrs398123844GRCh37Chr X, 31165564: 31165564
240DMDNM_004006.2(DMD): c.1261C> T (p.Gln421Ter)SNVPathogenicrs398123852GRCh37Chr X, 32662319: 32662319
241DMDNM_004006.2(DMD): c.1306dupG (p.Val436Glyfs)duplicationPathogenicrs398123854GRCh37Chr X, 32662274: 32662274
242DMDNM_004006.2(DMD): c.1332-9A> GSNVPathogenicrs72468700GRCh37Chr X, 32632579: 32632579
243DMDNM_004006.2(DMD): c.1341_1342dupAG (p.Val448Glufs)duplicationPathogenicrs398123856GRCh37Chr X, 32632560: 32632561
244DMDNM_004006.2(DMD): c.1371delG (p.Glu459Serfs)deletionPathogenicrs398123857GRCh37Chr X, 32632531: 32632531
245DMDNM_004006.2(DMD): c.137_138dupAT (p.Gly47Metfs)duplicationPathogenicrs398123859GRCh37Chr X, 32867893: 32867894
246DMDNM_004006.2(DMD): c.1465C> T (p.Gln489Ter)SNVPathogenicrs398123861GRCh37Chr X, 32632437: 32632437
247DMDNM_004006.2(DMD): c.1482+1G> TSNVPathogenicrs398123862GRCh37Chr X, 32632419: 32632419
248DMDNM_004006.2(DMD): c.1529_1530delTC (p.Leu510Hisfs)deletionPathogenicrs398123863GRCh37Chr X, 32613946: 32613947
249DMDNM_004006.2(DMD): c.1615C> T (p.Arg539Ter)SNVPathogenicrs398123865GRCh37Chr X, 32591951: 32591951
250DMDNM_004006.2(DMD): c.1886C> A (p.Ser629Ter)SNVPathogenicrs398123867GRCh37Chr X, 32583925: 32583925
251DMDNM_004006.2(DMD): c.1990C> T (p.Gln664Ter)SNVPathogenicrs398123870GRCh37Chr X, 32583821: 32583821
252DMDNM_004006.2(DMD): c.2032C> T (p.Gln678Ter)SNVPathogenicrs398123872GRCh37Chr X, 32563412: 32563412
253DMDNM_004006.2(DMD): c.2125delC (p.Gln709Lysfs)deletionPathogenicrs398123875GRCh37Chr X, 32563319: 32563319
254DMDNM_004006.2(DMD): c.2294_2297delCCAT (p.Ala765Glufs)deletionPathogenicrs398123882GRCh37Chr X, 32519955: 32519958
255DMDNM_004006.2(DMD): c.2332C> T (p.Gln778Ter)SNVPathogenicrs398123883GRCh37Chr X, 32519920: 32519920
256DMDNM_004006.2(DMD): c.2380+1G> CSNVPathogenicrs398123884GRCh37Chr X, 32519871: 32519871
257DMDNM_004006.2(DMD): c.2381-1G> TSNVPathogenicrs398123887GRCh37Chr X, 32509636: 32509636
258DMDNM_004006.2(DMD): c.2419C> T (p.Gln807Ter)SNVPathogenicrs398123888GRCh37Chr X, 32509597: 32509597
259DMDNM_004006.2(DMD): c.2547delT (p.Glu850Lysfs)deletionPathogenicrs398123895GRCh37Chr X, 32509469: 32509469
260DMDNM_004006.2(DMD): c.2650C> T (p.Gln884Ter)SNVPathogenicrs398123903GRCh37Chr X, 32503189: 32503189
261DMDNM_004006.2(DMD): c.2804-1G> ASNVPathogenicrs398123909GRCh37Chr X, 32490427: 32490427
262DMDNM_004006.2(DMD): c.2816T> A (p.Leu939Ter)SNVPathogenicrs398123910GRCh37Chr X, 32490414: 32490414
263DMDNM_004006.2(DMD): c.28delT (p.Cys10Valfs)deletionPathogenicrs398123913GRCh37Chr X, 33229402: 33229402
264DMDNM_004006.2(DMD): c.31+1G> TSNVPathogenicrs398123923GRCh37Chr X, 33229398: 33229398
265DMDNM_004006.2(DMD): c.3151C> T (p.Arg1051Ter)SNVPathogenicrs398123929GRCh37Chr X, 32486626: 32486626
266DMDNM_004006.2(DMD): c.3276+1G> ASNVPathogenicrs398123934GRCh37Chr X, 32482702: 32482702
267DMDNM_004006.2(DMD): c.3295C> T (p.Gln1099Ter)SNVPathogenicrs398123935GRCh37Chr X, 32481693: 32481693
268DMDNM_004006.2(DMD): c.336G> A (p.Trp112Ter)SNVPathogenicrs398123936GRCh37Chr X, 32841433: 32841433
269DMDNM_004006.2(DMD): c.3432+1G> ASNVPathogenicrs398123937GRCh37Chr X, 32481555: 32481555
270DMDNM_004006.2(DMD): c.3580C> T (p.Gln1194Ter)SNVPathogenicrs398123942GRCh37Chr X, 32472802: 32472802
271DMDNM_004006.2(DMD): c.3603+2T> ASNVPathogenicrs146071084GRCh37Chr X, 32472777: 32472777
272DMDNM_004006.2(DMD): c.3639dupA (p.Val1214Serfs)duplicationPathogenicrs398123943GRCh37Chr X, 32466720: 32466720
273DMDNM_004006.2(DMD): c.3747delG (p.Trp1249Cysfs)deletionPathogenicrs398123945GRCh37Chr X, 32466612: 32466612
274DMDNM_004006.2(DMD): c.3779_3785delCTTTGGAinsGG (p.Thr1260Argfs)indelPathogenicrs398123946GRCh37Chr X, 32466574: 32466580
275DMDNM_004006.2(DMD): c.4117C> T (p.Gln1373Ter)SNVPathogenicrs398123948GRCh37Chr X, 32429985: 32429985
276DMDNM_004006.2(DMD): c.412_413delAA (p.Lys138Aspfs)deletionPathogenicrs398123949GRCh37Chr X, 32834702: 32834703
277DMDNM_004006.2(DMD): c.434G> C (p.Arg145Pro)SNVPathogenicrs398123952GRCh37Chr X, 32834681: 32834681
278DMDNM_004006.2(DMD): c.4375C> T (p.Arg1459Ter)SNVPathogenicrs398123953GRCh37Chr X, 32407761: 32407761
279DMDNM_004006.2(DMD): c.4471_4472delAA (p.Lys1491Glufs)deletionPathogenicrs398123957GRCh37Chr X, 32407664: 32407665
280DMDNM_004006.2(DMD): c.4534_4535delCT (p.Leu1512Glufs)deletionPathogenicrs398123961GRCh37Chr X, 32404566: 32404567
281DMDNM_004006.2(DMD): c.4545_4549delGAAGT (p.Lys1516Terfs)deletionPathogenicrs398123962GRCh37Chr X, 32404552: 32404556
282DMDNM_004006.2(DMD): c.4843A> T (p.Lys1615Ter)SNVPathogenicrs398123969GRCh37Chr X, 32398629: 32398629
283DMDNM_004006.2(DMD): c.5124_5127delGAAA (p.Lys1708Asnfs)deletionPathogenicrs398123979GRCh37Chr X, 32382726: 32382729
284DMDNM_004006.2(DMD): c.5287C> T (p.Arg1763Ter)SNVPathogenicrs398123981GRCh37Chr X, 32380943: 32380943
285DMDNM_004006.2(DMD): c.5530C> T (p.Arg1844Ter)SNVPathogenicrs1064325GRCh37Chr X, 32364116: 32364116
286DMDNM_004006.2(DMD): c.5640T> A (p.Tyr1880Ter)SNVPathogenicrs398123993GRCh37Chr X, 32361350: 32361350
287DMDNM_004006.2(DMD): c.5773G> T (p.Glu1925Ter)SNVPathogenicrs398123997GRCh37Chr X, 32360366: 32360366
288DMDNM_004006.2(DMD): c.583C> T (p.Arg195Ter)SNVPathogenicrs398123999GRCh37Chr X, 32827676: 32827676
289DMDNM_004006.2(DMD): c.5938G> T (p.Glu1980Ter)SNVPathogenicrs398124001GRCh37Chr X, 32328378: 32328378
290DMDNM_004006.2(DMD): c.6000T> A (p.Tyr2000Ter)SNVPathogenicrs398124002GRCh37Chr X, 32328316: 32328316
291DMDNM_004006.2(DMD): c.6072T> A (p.Cys2024Ter)SNVPathogenicrs373804251GRCh37Chr X, 32328244: 32328244
292DMDNM_004006.2(DMD): c.615T> A (p.Tyr205Ter)SNVPathogenicrs398124004GRCh37Chr X, 32827644: 32827644
293DMDNM_004006.2(DMD): c.6182delC (p.Ala2061Glufs)deletionPathogenicrs398124005GRCh37Chr X, 32305754: 32305754
294DMDNM_004006.2(DMD): c.6391_6392delCA (p.Gln2131Asnfs)deletionPathogenicrs398124012GRCh37Chr X, 32235079: 32235080
295DMDNM_004006.2(DMD): c.6392_6393insCA (p.Gln2131Hisfs)insertionPathogenicrs398124013GRCh37Chr X, 32235078: 32235079
296DMDNM_004006.2(DMD): c.649+1G> ASNVPathogenicrs398124032GRCh37Chr X, 32827609: 32827609
297DMDNM_004006.2(DMD): c.676_678delAAG (p.Lys226del)deletionPathogenicrs398124034GRCh37Chr X, 32717382: 32717384
298DMDNM_004006.2(DMD): c.6906G> A (p.Trp2302Ter)SNVPathogenicrs398124036GRCh37Chr X, 31947719: 31947719
299DMDNM_004006.2(DMD): c.6986dupA (p.Leu2330Alafs)duplicationPathogenicrs398124040GRCh37Chr X, 31893417: 31893417
300DMDNM_004006.2(DMD): c.7189C> T (p.Gln2397Ter)SNVPathogenicrs398124042GRCh37Chr X, 31854846: 31854846
301DMDNM_004006.2(DMD): c.7309+1G> ASNVPathogenicrs398124044GRCh37Chr X, 31838091: 31838091
302DMDNM_004006.2(DMD): c.7657C> T (p.Arg2553Ter)SNVPathogenicrs398124050GRCh37Chr X, 31747751: 31747751
303DMDNM_004006.2(DMD): c.7682G> A (p.Trp2561Ter)SNVPathogenicrs398124052GRCh37Chr X, 31697682: 31697682
304DMDNM_004006.2(DMD): c.7683G> A (p.Trp2561Ter)SNVPathogenicrs398124053GRCh37Chr X, 31697681: 31697681
305DMDNM_004006.2(DMD): c.7894C> T (p.Gln2632Ter)SNVPathogenicrs398124058GRCh37Chr X, 31676240: 31676240
306DMDNM_004006.2(DMD): c.8064_8065delTA (p.His2688Glnfs)deletionPathogenicrs398124060GRCh37Chr X, 31645942: 31645943
307DMDNM_004006.2(DMD): c.8069T> G (p.Leu2690Ter)SNVPathogenicrs398124061GRCh37Chr X, 31645938: 31645938
308DMDNM_004006.2(DMD): c.8374_8375delAA (p.Lys2792Valfs)deletionPathogenicrs398124070GRCh37Chr X, 31525413: 31525414
309DMDNM_004006.2(DMD): c.8443C> T (p.Gln2815Ter)SNVPathogenicrs398124072GRCh37Chr X, 31515009: 31515009
310DMDNM_004006.2(DMD): c.8608C> T (p.Arg2870Ter)SNVPathogenicrs398124074GRCh37Chr X, 31497160: 31497160
311DMDNM_004006.2(DMD): c.8652_8653delCT (p.Tyr2885Profs)deletionPathogenicrs398124075GRCh37Chr X, 31497115: 31497116
312DMDNM_004006.2(DMD): c.8912_8913delTC (p.Leu2971Profs)deletionPathogenicrs398124078GRCh37Chr X, 31496247: 31496248
313DMDNM_004006.2(DMD): c.9125delA (p.His3042Profs)deletionPathogenicrs398124080GRCh37Chr X, 31366711: 31366711
314DMDNM_004006.2(DMD): c.9225-647A> GSNVPathogenicrs398124091GRCh37Chr X, 31279780: 31279780
315DMDNM_004006.2(DMD): c.9337C> T (p.Arg3113Ter)SNVPathogenicrs398124092GRCh37Chr X, 31241188: 31241188
316DMDNM_004006.2(DMD): c.9361+1G> ASNVPathogenicrs398124094GRCh37Chr X, 31241163: 31241163
317DMDNM_004006.2(DMD): c.9361+1G> CSNVPathogenicrs398124094GRCh37Chr X, 31241163: 31241163
318DMDNM_004006.2(DMD): c.9564-1G> ASNVPathogenicrs398124096GRCh37Chr X, 31224785: 31224785
319DMDNM_004006.2(DMD): c.9650-2A> GSNVPathogenicrs398124100GRCh37Chr X, 31222237: 31222237
320DMDNM_004006.2(DMD): c.9862G> T (p.Glu3288Ter)SNVPathogenicrs398124106GRCh37Chr X, 31200967: 31200967

Expression for genes affiliated with Duchenne Muscular Dystrophy

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LifeMap Discovery
Genes differentially expressed in tissues of Duchenne Muscular Dystrophy patients vs. healthy controls: 34 (show all 10)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1MYH3myosin, heavy chain 3, skeletal muscle, embryonicSkeletal Muscle+5.620.000
2COL1A2collagen, type I, alpha 2Skeletal Muscle+4.060.000
3COL1A1collagen, type I, alpha 1Skeletal Muscle+4.060.000
4COL3A1collagen, type III, alpha 1Skeletal Muscle+3.840.000
5MYH8myosin, heavy chain 8, skeletal muscle, perinatalSkeletal Muscle+3.740.000
6DCLK1doublecortin-like kinase 1Skeletal Muscle+3.560.000
7ASPNasporinSkeletal Muscle+3.170.000
8SPP1secreted phosphoprotein 1Skeletal Muscle+3.170.000
9NNMTnicotinamide N-methyltransferaseSkeletal Muscle+3.030.000
10LYZlysozymeSkeletal Muscle+3.020.000

Search GEO for disease gene expression data for Duchenne Muscular Dystrophy.

Pathways for genes affiliated with Duchenne Muscular Dystrophy

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GO Terms for genes affiliated with Duchenne Muscular Dystrophy

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Cellular components related to Duchenne Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1contractile ringGO:007093810.7DAG1, UTRN
2filopodium membraneGO:003152710.6DMD, UTRN
3costamereGO:004303410.5DAG1, DMD
4filopodiumGO:003017510.2DAG1, DMD, UTRN
5Z discGO:003001810.2CAV3, DMD, NOS1
6postsynaptic membraneGO:00452119.8DAG1, DMD, DTNBP1, UTRN
7membrane raftGO:00451219.7CAV3, DAG1, DMD, NOS1
8dystrophin-associated glycoprotein complexGO:00160109.6CAV3, DAG1, DMD, SNTB1, SNTB2, UTRN
9cytoskeletonGO:00058569.5DAG1, DMD, NOS1, SNTB1, UTRN
10sarcolemmaGO:00423839.2CAV3, DAG1, DMD, DTNA, DTNBP1, NOS1
11protein complexGO:00432349.1CAV3, DMD, DTNA, NOS1, SNTB1, SNTB2
12synapseGO:00452029.0DMD, DTNA, NOS1, SNTB1, SNTB2, UTRN

Biological processes related to Duchenne Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1regulation of sodium ion transmembrane transporter activityGO:200064910.6CAV3, UTRN
2striated muscle contractionGO:000694110.6DTNA, NOS1
3negative regulation of calcium ion transportGO:005192610.6CAV3, NOS1
4regulation of cardiac muscle contractionGO:005511710.5CAV3, NOS1
5myoblast fusionGO:000752010.5CAV3, NOS1
6regulation of transforming growth factor beta receptor signaling pathwayGO:001701510.4CAV3, LTBP4
7negative regulation of MAPK cascadeGO:004340910.4CAV3, DAG1
8nucleus localizationGO:005164710.3CAV3, DMD
9regulation of ryanodine-sensitive calcium-release channel activityGO:006031410.3DMD, NOS1
10regulation of skeletal muscle contractionGO:001481910.3CAV3, DMD
11muscle cell cellular homeostasisGO:004671610.2CAV3, DMD, MSTN
12response to ethanolGO:004547110.0GK, MSTN, NOS1
13muscle contractionGO:00069369.7CAV3, SNTB1, UTRN
14muscle organ developmentGO:00075179.7CAV3, DMD, ITGA7, MSTN, UTRN

Molecular functions related to Duchenne Muscular Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nitric-oxide synthase bindingGO:005099810.1CAV3, DMD
2integrin bindingGO:000517810.1DMD, LTBP4, UTRN
3vinculin bindingGO:001716610.0DAG1, DMD, UTRN
4PDZ domain bindingGO:003016510.0DMD, DTNA, SNTB1
5dystroglycan bindingGO:00021629.9DAG1, DMD
6actin bindingGO:00037799.4DAG1, DMD, SNTB1, SNTB2, UTRN

Sources for Duchenne Muscular Dystrophy

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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