MCID: MSC003
MIFTS: 52

Muscular Atrophy malady

Muscle diseases category

Summaries for Muscular Atrophy

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63Wikipedia, 32MalaCards
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Wikipedia:63 Muscle atrophy is defined as a decrease in the mass of the muscle; it can be a partial or complete... more...

MalaCards: Muscular Atrophy, also known as wasting - muscle, is related to spinal muscular atrophy and juvenile spinal muscular atrophy. An important gene associated with Muscular Atrophy is SMN1 (survival of motor neuron 1, telomeric), and among its related pathways are RNA transport and snRNP Assembly. The compounds cl-4as-1 and nilutamide have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and skeletal muscle.

Aliases & Classifications for Muscular Atrophy

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8Disease Ontology, 10DISEASES, 60UMLS, 56SNOMED-CT, 34MeSH
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Classifications:

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


Aliases & Descriptions:

muscular atrophy 8 10 60
wasting - muscle 8
amyotrophia nos 8
muscle wasting 8
muscle atrophy 8


External Ids:

Disease Ontology8 DOID:767
MeSH34 D009133

Related Diseases for Muscular Atrophy

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17GeneCards, 18GeneDecks
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Diseases in the Muscular Atrophy family:

Progressive Muscular Atrophy

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

(show top 50)    (show all 259)
idRelated DiseaseScoreTop Affiliating Genes
1spinal muscular atrophy32.1DDX20, NAIP, GTF2H2, SMN1, SMN2
2juvenile spinal muscular atrophy31.1NAIP, SMN1, SMN2
3spinal muscular atrophy 130.8SMN2, SMN1, GTF2H2, NAIP
4spinal muscular atrophy type 230.8NAIP, SMN1, SMN2
5motor neuron disease30.7AR, DCTN1, NAIP, SMN1, SMN2
6neuromuscular disease30.5AR, DCTN1, NAIP, SMN1, SMN2
7neuropathy30.4SACS, SMN1, SMN2
8prostate cancer30.1AREG, AR, RAN
9progressive muscular atrophy11.0
10neuronitis10.9
11survival motor neuron spinal muscular atrophy10.8
12adult spinal muscular atrophy10.7
13spinal muscular atrophy with respiratory distress 110.7
14spinal-bulbar muscular atrophy10.7
15muscular dystrophy10.6
16kennedy's disease10.6
17lateral sclerosis10.6
18amyotrophic lateral sclerosis10.6
19werdnig-hoffmann disease10.5
20x-linked spinal-bulbar muscle atrophy10.5
21spinal muscular atrophy with progressive myoclonic epilepsy10.5
22distal spinal muscular atrophy, type v10.5
23spinal muscular atrophy, lower extremity-predominant, ad10.5
24charcot-marie-tooth disease10.4
25distal congenital nonprogressive spinal muscular atrophy10.4
26spinal muscular atrophy, lower extremity-predominant, 2, ad10.4
27intermediate spinal muscular atrophy10.4
28duchenne muscular dystrophy10.4
29monomelic amyotrophy10.4
30spinal muscular atrophy, late-onset, finkel type10.4
31distal spinal muscular atrophy type 310.4
32spinal muscular atrophy, x-linked infantile10.3
33adult progressive spinal muscular atrophy aran duchenne type10.3
34neuropathy, distal hereditary motor, jerash type10.3
35spinal muscular atrophy ryukyuan type10.3
36spinal muscular atrophy, x-linked 2, infantile10.3
37distal hereditary motor neuropathy type 110.3
38myopathy with postural muscle atrophy, x-linked10.3
39myopathy10.3
40tooth disease10.3
41x-linked disease10.3
42muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.3
43spinal muscular atrophy, distal, autosomal recessive, 410.3
44becker muscular dystrophy10.2
45postpoliomyelitis syndrome10.2
46myotonic dystrophy10.2
47amyotrophy, neurogenic scapuloperoneal, new england type10.2
48spinal muscular atrophy type 1 with congenital bone fractures10.2
49spinal muscular atrophy, lower extremity, autosomal dominant10.2
50spinal muscular atrophy, distal, autosomal recessive, 510.2

Graphical network of the top 20 diseases related to Muscular Atrophy:



Diseases related to muscular atrophy

Clinical Features for Muscular Atrophy

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Drugs & Therapeutics for Muscular Atrophy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Muscular Atrophy

Drug clinical trials:

Search ClinicalTrials for Muscular Atrophy

Search NIH Clinical Center for Muscular Atrophy

Search CenterWatch for Muscular Atrophy

Genetic Tests for Muscular Atrophy

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Anatomical Context for Muscular Atrophy

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32MalaCards
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MalaCards organs/tissues related to Muscular Atrophy:

32
Heart, Testes, Skeletal muscle, Bone, Spinal cord, Brain, Prostate, Lung, Tongue, Retina, Skin, Eye

Animal Models for Muscular Atrophy or affiliated genes

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Publications for Muscular Atrophy

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Sources:
50PubMed
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Articles related to Muscular Atrophy:

(show top 50)    (show all 1166)
idTitleAuthorsYear
1
Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA). (24400925)
2014
2
Further evidence of no association between spinal muscular atrophy and increased nuchal translucency. (23147083)
2013
3
Androgen receptors in muscle fibers induce rapid loss of force but not mass: implications for spinal bulbar muscular atrophy. (23629944)
2013
4
Spinal muscular atrophy: an update on therapeutic progress. (23994186)
2013
5
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. (23073312)
2013
6
Current advances in drug development in spinal muscular atrophy. (24240287)
2013
7
Should long-term ventilation be offered in severe spinal muscular atrophy. (24131114)
2013
8
Late onset GM2 gangliosidosis mimicking spinal muscular atrophy. (23820084)
2013
9
Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients. (24359787)
2013
10
Responsiveness of the motor function measure in patients with spinal muscular atrophy. (23380348)
2013
11
Proximal spinal muscular atrophy: current orthopedic perspective. (24399883)
2013
12
Celecoxib increases SMN and survival in a severe spinal muscular atrophy mouse model via p38 pathway activation. (23656793)
2013
13
Stress and coping in parents of children and adolescents with spinal muscular atrophy. (22504774)
2012
14
Density, calibre and ramification of muscle capillaries are altered in a mouse model of severe spinal muscular atrophy. (22153987)
2012
15
Current research on SMN protein and treatment strategies for spinal muscular atrophy. (21820901)
2012
16
The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). (22157136)
2012
17
The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. (21708901)
2011
18
Gene dosage analysis of proximal spinal muscular atrophy carriers using real-time PCR. (21529108)
2011
19
Long-term stabilization of respiratory conditions in patients with spinal muscular atrophy type 2 by continuous positive airway pressure: a report of two cases. (22971944)
2011
20
Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms. (21295027)
2011
21
Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III. (21762474)
2011
22
Spinal muscular atrophy type 1: avoidance of hospitalization by respiratory muscle support. (21955953)
2011
23
Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings. (21546251)
2011
24
Altered axonal excitability properties in juvenile muscular atrophy of distal upper extremity (Hirayama disease). (20624687)
2011
25
Ubiquitin carboxyl-terminal hydrolase L1 (UCHL1) regulates the level of SMN expression through ubiquitination in primary spinal muscular atrophy fibroblasts. (20713032)
2010
26
Incidence of spinal muscular atrophy in Poland--more frequent than predicted? (20090376)
2010
27
Repair of pre-mRNA splicing: prospects for a therapy for spinal muscular atrophy. (20523126)
2010
28
Survival analysis of spinal muscular atrophy type I. (21218019)
2010
29
Universal multiplex PCR and CE for quantification of SMN1/SMN2 genes in spinal muscular atrophy. (19373809)
2009
30
Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy. (18546169)
2008
31
Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography system. (18720039)
2008
32
A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. (17008331)
2007
33
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia. (16864838)
2006
34
Mutant androgen receptor accumulation in spinal and bulbar muscular atrophy scrotal skin: a pathogenic marker. (16358333)
2006
35
A newborn infant with infantile spinal muscular atrophy associated with trisomy 21 and congenital hypothyroidism. (15844790)
2005
36
Quantitative analysis of SMN gene copies in spinal muscular atrophy]. (15079799)
2004
37
Bulbospinal muscular atrophy: Kennedy's disease. (15313856)
2004
38
Allele-specific amplification of exon 7 in the survival motor neuron (SMN) genes for molecular diagnosis of spinal muscular atrophy. (15000810)
2003
39
Trinucleotide repeat disease. The androgen receptor in spinal and bulbar muscular atrophy. (12481545)
2002
40
SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta. (12095920)
2002
41
Direct interaction of the spinal muscular atrophy disease protein SMN with the small nucleolar RNA-associated protein fibrillarin. (11509571)
2001
42
Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosis. (10369311)
1999
43
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. (10205265)
1999
44
Deletion analysis in Turkish patients with spinal muscular atrophy. (10206524)
1999
45
Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy. (9708795)
1998
46
Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region. (9307259)
1997
47
X-linked muscular atrophy and the androgen receptor. (18407238)
1994
48
A survival analysis of 155 cases of progressive muscular atrophy. (4082906)
1985
49
Two early infantile hereditary cases of progressive muscular atrophy simulating dystrophy, but on a neural basis. 1891. (4952838)
1971
50
Progressive muscular atrophy of the peroneal type (Charcot-Marie-Tooth disease) orthopaedic management and end-result study. (15401720)
1950

Genetic Variations for Muscular Atrophy

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Expression for genes affiliated with Muscular Atrophy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muscular Atrophy

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Pathways for genes affiliated with Muscular Atrophy

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29KEGG, 53Reactome, 37NCBI BioSystems Database
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Pathways related to Muscular Atrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.7SMN2, SMN1, RAN, DDX20
2
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10.6SMN1, DDX20
3
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10.6AREG, AREGB

Compounds for genes affiliated with Muscular Atrophy

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59Tocris Bioscience, 44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB
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Compounds related to Muscular Atrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cl-4as-15911.0FDXR, AR, AREG, AREGB, SACS
2nilutamide44 59 28 1113.9SACS, AREGB, AREG, AR, FDXR
3flutamide44 59 1112.9FDXR, AR, AREG, AREGB, SACS
4bicalutamide44 59 1112.9SACS, AREGB, AREG, AR, FDXR
5cisplatin44 49 59 1113.8AREG, ATP7A, NAIP, RAN, GTF2H2
6nsc344410.7SMN2, AR
7phenylbutyrate4410.6SMN2, SMN1
8aclarubicin4410.5SMN1, SMN2
9testosterone44 59 11 2413.5FDXR, AR, AREG, AREGB, SACS

GO Terms for genes affiliated with Muscular Atrophy

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16Gene Ontology
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Cellular components related to Muscular Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1spliceosomal complexGO:00568110.7SMN2, SMNDC1, DDX20
2Gemini of coiled bodiesGO:09750410.3SMN2, DDX20

Biological processes related to Muscular Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00821910.7SMN2, DCTN1, AR, SACS
2gene expressionGO:01046710.7AR, DDX20, RAN, GTF2H2, SMN2
3spliceosomal snRNP assemblyGO:00038710.6SMN2, DDX20
4ncRNA metabolic processGO:03466010.3SMN2, DDX20

Products for genes affiliated with Muscular Atrophy

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Sources for Muscular Atrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet