BMD
MCID: BCK001
MIFTS: 62

Becker Muscular Dystrophy (BMD) malady

Neuronal, Muscle categories

Summaries for Becker Muscular Dystrophy

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Becker muscular dystrophy is an inherited disorder that involves slowly worsening muscle weakness of the legs and pelvis. it is caused by a mutation in a gene called the dmd gene, which encodes the muscle protein dystrophin. the disorder is inherited in an x-linked recessive manner. becker muscular dystrophy is very similar to duchenne muscular dystrophy, except that symptoms develop at a later age and progress at a much slower rate. in addition to the skeletal muscles used for movement, becker muscular dystrophy may also affect the muscles of the heart. there is no known cure for this condition. treatment tries to control symptoms to maximize quality of life. last updated: 11/18/2009

MalaCards: Becker Muscular Dystrophy, also known as muscular dystrophy, becker type, is related to duchenne muscular dystrophy and limb-girdle muscular dystrophy. An important gene associated with Becker Muscular Dystrophy is DMD (dystrophin), and among its related pathways are Striated Muscle Contraction and Cytoskeleton remodeling Neurofilaments. The compounds alpha-bungarotoxin and succinate have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and whole blood, and related mouse phenotypes are growth/size and muscle.

Description from OMIM:47 300376,159050

Aliases & Classifications for Becker Muscular Dystrophy

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Muscle


Characteristics (Orphanet epidemiological data):

49
becker muscular dystrophy:
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

becker muscular dystrophy 8 9 43 47 10 49 61
muscular dystrophy, becker type 43 20 22
benign pseudohypertrophic muscular dystrophy 8 43
benign congenital myopathy 8 61
muscular dystrophy pseudohypertrophic progressive, becker type 43
becker's muscular dystrophy 43
muscular dystrophy becker 45
becker dystrophinopathy 49
bmd 49


External Ids:

Disease Ontology8 DOID:9883
ICD9CM27 359.0
MESH via Orphanet36 C537666
ICD10 via Orphanet26 G71.0
SNOMED-CT via Orphanet58 387732009
UMLS via Orphanet62 C0917713

Related Diseases for Becker Muscular Dystrophy

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Becker Muscular Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 97)
idRelated DiseaseScoreTop Affiliating Genes
1duchenne muscular dystrophy32.1VCL, UTRN, NOS1, MYOZ2, CHKB, DES
2limb-girdle muscular dystrophy30.5FKRP, DMD
3myopathy congenital30.5CHKB, DES, DMD
4mental retardation30.3FKRP, DMD, GK
5noonan syndrome30.3DMD, DES, CHKB, FKRP, MYOZ2, NOS1
6muscular dystrophy, duchenne and becker types10.7
7muscular atrophy10.5
8spinal muscular atrophy10.5
9malignant hyperthermia10.5
10osteoporosis10.4
11klinefelter's syndrome10.4
12myotonia10.4
13bone fracture10.4
14osteoporotic fracture10.3
15benign samaritan congenital myopathy10.2
16osteoporosis, postmenopausal10.2
17atrioventricular block10.2
18colon lymphoma10.2
19wolff-parkinson-white syndrome10.2
20angelman syndrome10.2
21fatty liver disease10.2
22celiac disease10.2
23facioscapulohumeral muscular dystrophy10.2
24bethlem myopathy10.2
25n syndrome10.2
26arthritis10.2
27growth hormone deficiency10.2
28left ventricular noncompaction10.2
29nondystrophic myotonia10.2
30ocular muscular dystrophy10.2
31autonomic dysfunction10.2
32paroxysmal choreoathetosis10.2
33sleep apnea10.2
34pulmonary function10.2
35focal myositis10.2
36anorexia nervosa10.2
37macular dystrophy10.1
38dystrophinopathies10.0DMD
39hypertrophic cardiomyopathy10.0MYOZ2
40hemangioblastoma10.0NES
41myofibrillar myopathy10.0DES
42myasthenia gravis10.0UTRN, DMD
43aland island eye disease10.0GK
44hyperglycerolemia10.0DMD, GK
45x-linked adrenal hypoplasia congenita10.0GK, DMD
46rhabdoid tumor10.0DES
47limb-girdle muscular dystrophy, type 2g10.0DMD, FKRP
48muscular dystrophy-dystroglycanopathy , type a, 1410.0DMD, FKRP
49muscular dystrophy-dystroglycanopathy , type c, 510.0CHKB, FKRP
50limb-girdle muscular dystrophy type 2f10.0FKRP, DMD

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



Diseases related to becker muscular dystrophy

Clinical Features for Becker Muscular Dystrophy

Sources:
47OMIM
See all sources

Clinical features from OMIM:

300376,159050

Clinical synopsis from OMIM:

159050

Drugs & Therapeutics for Becker Muscular Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Becker Muscular Dystrophy

Drug clinical trials:

Search ClinicalTrials for Becker Muscular Dystrophy

Search NIH Clinical Center for Becker Muscular Dystrophy

Search CenterWatch for Becker Muscular Dystrophy

Genetic Tests for Becker Muscular Dystrophy

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Becker Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Becker Muscular Dystrophy20 22

Anatomical Context for Becker Muscular Dystrophy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Becker Muscular Dystrophy:

33
Liver, Brain, Whole blood, Heart, Skeletal muscle, Colon, T cells, Fetal brain, Fetal liver, Pituitary

Animal Models for Becker Muscular Dystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Becker Muscular Dystrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.6DMD, NES, NCAM1, FKRP, MYF6, NOS1
2MP:00053698.5VCL, DMD, SNTA1, DES, CHKB, FKRP
3MP:00053768.2DES, SNTA1, DMD, GK, CHKB, FKRP
4MP:00053868.1GK, DMD, SNTB2, SNTA1, NES, DES
5MP:00036318.0SNTA1, SNTB2, DMD, GK, NES, NCAM1
6MP:00107688.0DES, NES, DMD, GK, NCAM1, FKRP

Publications for Becker Muscular Dystrophy

Sources:
51PubMed
See all sources

Articles related to Becker Muscular Dystrophy:

(show top 50)    (show all 462)
idTitleAuthorsYear
1
CMR detects subclinical cardiomyopathy in mother-carriers of Duchenne and Becker muscular dystrophy. (23579015)
2013
2
Correlation of knee strength to functional outcomes in Becker muscular dystrophy. (23460325)
2013
3
Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients. (24225992)
2013
4
Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients. (24099565)
2013
5
Prognostic impact of left ventricular noncompaction in patients with Duchenne/Becker muscular dystrophy--prospective multicenter cohort study. (23333368)
2013
6
Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2. (23369578)
2013
7
Duchenne or Becker muscular dystrophy: a clinical, genetic and immunohistochemical study in China. (22234188)
2011
8
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. (22102647)
2011
9
Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy. (21149430)
2011
10
Muscle metabolic alterations assessed by 31-phosphorus magnetic resonance spectroscopy in mild Becker muscular dystrophy. (21952990)
2011
11
Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene. (22006698)
2011
12
Perioperative cardiac arrest in a patient with previously undiagnosed Becker's muscular dystrophy after isoflurane anaesthesia for elective surgery. (20190256)
2010
13
Read-through strategies for suppression of nonsense mutations in Duchenne/ Becker muscular dystrophy: aminoglycosides and ataluren (PTC124). (20519671)
2010
14
Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy. (19475718)
2009
15
Detection of focal cerebral injury using diffusion tensor magnetic resonance imaging in a boy with becker muscular dystrophy. (20446227)
2009
16
Identify female carriers and de novo mutations in deletional Duchenne/Becker muscular dystrophy families. (16553208)
2006
17
Late gadolinium enhanced cardiovascular magnetic resonance in Becker muscular dystrophy. (15310728)
2004
18
Subclinical Becker's muscular dystrophy presenting with severe heart failure. (15098601)
2004
19
Re-evaluation of reading frame-shift hypothesis in Duchenne and Becker muscular dystrophy. (14652441)
2003
20
Spontaneous left ventricular hypertrabeculation in dystrophin duplication based Becker's muscular dystrophy. (11765481)
2001
21
Manifestations of Duchenne and Becker muscular dystrophy among carriers. (10541963)
1999
22
Detection of gene deletions in Chinese patients with Duchenne/Becker muscular dystrophy using CDNA probes and the polymerase chain reaction method. (10465346)
1999
23
A case of Becker muscular dystrophy and massive myoglobinuria with minimal renal manifestations. (9550662)
1998
24
ERG in Duchenne/Becker muscular dystrophy. (9880152)
1998
25
Differential protein oxidation in Duchenne and Becker muscular dystrophy. (9694200)
1998
26
The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce misdiagnosis of Duchenne/Becker muscular dystrophy. (9425255)
1997
27
PCR techniques for deletion, linkage, and mutation analysis in duchenne/becker muscular dystrophy. (21374510)
1996
28
An unusual association: celiac disease and Becker muscular dystrophy. (8678019)
1996
29
Functional significance of dystrophin-positive fibers in Duchenne and Becker muscular dystrophy. (9025855)
1996
30
Evaluation of the cardiomyopathy in Becker muscular dystrophy. (7870105)
1995
31
Is dystrophin always altered in Becker muscular dystrophy patients? (7561956)
1995
32
Muscle CT scans in preclinical cases of Duchenne and Becker muscular dystrophy. (7625556)
1995
33
Dystrophin-related protein in Becker muscular dystrophy. (7919618)
1994
34
Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. (8149204)
1994
35
Duchenne and Becker muscular dystrophy prevalence in South Africa and molecular findings in 128 persons affected. (7825085)
1994
36
Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin. (8328458)
1993
37
Dystrophin-positive myotubes in innervated muscle cultures from Duchenne and Becker muscular dystrophy patients. (8358237)
1993
38
Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype? (8490621)
1993
39
Molecular genetics and genetic counselling for Duchenne/Becker muscular dystrophy. (8111545)
1993
40
Detection of partial deletion and partial duplication of dystrophin gene in Japanese patients with Duchenne or Becker muscular dystrophy. (8358041)
1993
41
Molecular genetics of Duchenne/Becker muscular dystrophy]. (8411723)
1993
42
Is dystrophin labelling always discontinuous in Becker muscular dystrophy? (2033404)
1991
43
Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy. (1757963)
1991
44
Becker muscular dystrophy: correlation of deletion type with clinical severity. (2325103)
1990
45
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. (2696500)
1989
46
Deletion analysis for Duchenne (and Becker) muscular dystrophy. (2590130)
1989
47
The application of linkage analysis to genetic counselling in families with Duchenne or Becker muscular dystrophy. (3572997)
1987
48
X;autosome translocations in females with Duchenne or Becker muscular dystrophy. (3461282)
1986
49
Definitive localization of Becker muscular dystrophy in Xp by linkage to a cluster of DNA polymorphisms (DXS43 and DXS9). (2993155)
1985
50
Localisation of gene for Becker muscular dystrophy. (6139558)
1983

Genetic Variations for Becker Muscular Dystrophy

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Becker Muscular Dystrophy:

63
id Symbol AA change Variation SNP ID
1DMDp.Ala168AspVAR_005149
2DMDp.Tyr231AsnVAR_005150
3DMDp.His2921ArgVAR_005170rs1800279
4DMDp.Ala3421ValVAR_005172
5DMDp.Ala171ProVAR_023539

Expression for genes affiliated with Becker Muscular Dystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Becker Muscular Dystrophy

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

Pathways for genes affiliated with Becker Muscular Dystrophy

Sources:
38NCBI BioSystems Database, 54Reactome, 12EMD Millipore, 52QIAGEN
See all sources

Pathways related to Becker Muscular Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.8DMD, DES, VCL
2
Hide members
9.8DCTN4, DES, NES
39.5NOS1, SNTA1, SNTB1, DMD

Compounds for genes affiliated with Becker Muscular Dystrophy

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB
See all sources

Compounds related to Becker Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1alpha-bungarotoxin45 6011.3DMD, DES
2succinate4510.2CHKB, DMD, GK
3dapc4510.2DMD, NOS1, UTRN
4hematoxylin4510.1NCAM1, DES, DMD
5glycerol45 11 2412.0GK, DMD, CHKB, NOS1
6ganglioside459.9NCAM1, DES, NES
7bromodeoxyuridine459.9NCAM1, DES, NES, DMD
8gold459.9DMD, DES, NCAM1, VCL
9heparin45 29 11 2412.6DMD, DES, NCAM1, CHKB, VCL
10urea45 11 2411.6DMD, CHKB, VCL
11glutamine459.6DMD, NCAM1, CHKB, NOS1, VCL
12norepinephrine45 11 2411.5NOS1, CHKB, DES, GK
13h2o2459.4GK, DES, CHKB, NOS1, VCL
14vegf459.3NES, DES, NCAM1, CHKB, NOS1, VCL
15testosterone45 60 11 2412.2DES, NCAM1, CHKB, NOS1, VCL
16estrogen459.2NES, DES, NCAM1, SHOX, CHKB, NOS1
17cysteine459.2DMD, DES, NCAM1, CHKB, NOS1, VCL
18glucose459.2GK, DMD, NES, DES, CHKB, RAB4A
19sodium45 2410.1DMD, SNTB1, SNTB2, SNTA1, NCAM1, RAB4A
20tyrosine458.9VCL, UTRN, MYOZ2, NCAM1, DES, NES
21nitric oxide45 11 2410.8DMD, SNTA1, NES, DES, NCAM1, CHKB
22acetylcholine45 50 29 11 2412.8DMD, NES, DES, NCAM1, MYOZ2, MYF6
23creatinine458.7UTRN, GK, DMD, DES, NCAM1, CHKB
24calcium45 50 11 2411.1DMD, SNTB1, SNTB2, SNTA1, DES, NCAM1

GO Terms for genes affiliated with Becker Muscular Dystrophy

Sources:
16Gene Ontology
See all sources

Cellular components related to Becker Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell-substrate junctionGO:03005510.2VCL, DMD
2syntrophin complexGO:01601310.1DMD, SNTA1
3fascia adherensGO:0059169.9VCL, DES
4costamereGO:0430349.8VCL, DMD
5Z discGO:0300189.7VCL, MYOZ2, DES, DMD
6synapseGO:0452029.5NOS1, SNTB2, SNTB1
7dystrophin-associated glycoprotein complexGO:0160109.5DMD, SNTB1, SNTB2, FKRP, UTRN
8cytoskeletonGO:0058569.4SNTB1, SNTA1, NOS1, UTRN, VCL
9protein complexGO:0432348.9DMD, SNTB1, SNTB2, SNTA1, NOS1, UTRN
10sarcolemmaGO:0423838.8VCL, DMD, SNTB1, SNTA1, DES, FKRP

Biological processes related to Becker Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell-matrix adhesionGO:00195410.1UTRN, DMD
2negative regulation of peptidyl-cysteine S-nitrosylationGO:19020839.8SNTA1, DMD
3muscle contractionGO:0069368.9VCL, SNTB1, SNTA1, DES, SLMAP, UTRN

Molecular functions related to Becker Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1dystroglycan bindingGO:00216210.1VCL, DMD
2nitric-oxide synthase bindingGO:05099810.0DMD, SNTA1
3sodium channel regulator activityGO:01708010.0NOS1, SNTA1
4vinculin bindingGO:0171669.8UTRN, DMD
5calmodulin bindingGO:0055169.4SNTB1, SNTB2, SNTA1, NOS1
6actin bindingGO:0037799.0VCL, DMD, SNTB1, SNTB2, SNTA1, MYOZ2
7protein bindingGO:0055157.0DES, SNTA1, SNTB2, SNTB1, DMD, GK

Products for genes affiliated with Becker Muscular Dystrophy

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Sources for Becker Muscular Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet