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, Retina, Lung, Prostate, Tongue, Skin, Eye

Animal Models for Muscular Atrophy or affiliated genes

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Publications for Muscular Atrophy

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50PubMed
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Articles related to Muscular Atrophy:

(show top 50)    (show all 1166)
idTitleAuthorsYear
1
A case report of extended neurogenic muscular atrophy related to SAPHO syndrome. (24158656)
2013
2
Pilot trial of clenbuterol in spinal and bulbar muscular atrophy. (23645595)
2013
3
Prenatal diagnosis of spinal muscular atrophy: clinical experience and molecular genetics of SMN gene analysis in 36 cases. (24175014)
2013
4
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. (24164096)
2013
5
Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy. (23393146)
2013
6
Enhanced aggregation of androgen receptor in induced pluripotent stem cell-derived neurons from spinal and bulbar muscular atrophy. (23364790)
2013
7
Spinal muscular atrophy: going beyond the motor neuron. (23228902)
2013
8
Novel Dynein DYNC1H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development. (24307404)
2013
9
Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy. (23443997)
2013
10
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. (23664120)
2013
11
Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I. (23146148)
2013
12
How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches. (23602330)
2013
13
Current status of treatment of spinal and bulbar muscular atrophy. (22720173)
2012
14
A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy. (22037760)
2012
15
Synaptic defects in spinal muscular atrophy animal models. (21567981)
2012
16
Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients. (21821450)
2012
17
Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study. (22558154)
2012
18
Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3. (23115209)
2012
19
Drug treatment for spinal muscular atrophy type I. (22513939)
2012
20
Electrical impedance myography in spinal muscular atrophy: a longitudinal study. (22499089)
2012
21
Drug treatment for spinal muscular atrophy types II and III. (22513940)
2012
22
Proteomic assessment of a cell model of spinal muscular atrophy. (21385431)
2011
23
Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid. (20551479)
2011
24
The spinal muscular atrophy mouse model, SMAI97, displays altered axonal transport without global neurofilament alterations. (21681521)
2011
25
Absence of disturbed axonal transport in spinal and bulbar muscular atrophy. (21317158)
2011
26
Mitochondrial DNA damage in spinal and bulbar muscular atrophy patients and carriers. (20035733)
2010
27
A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity. (20194437)
2010
28
Disrupted transforming growth factor-beta signaling in spinal and bulbar muscular atrophy. (20410122)
2010
29
Disease course and prognostic factors of progressive muscular atrophy. (17420313)
2007
30
Animal models of neurodegenerative diseases on the road to disease-modifying therapy: spinal and bulbar muscular atrophy]. (18210842)
2007
31
Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. (16621916)
2006
32
Multiplex nested PCR for preimplantation genetic diagnosis of spinal muscular atrophy. (14764971)
2004
33
A clinical and genetic study of spinal muscular atrophy. (15378871)
2004
34
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. (14560316)
2004
35
A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy. (11978761)
2002
36
Spinal muscular atrophy: present state. (11303798)
2001
37
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. (10655541)
2000
38
Slowly progressive spinal muscular atrophy of the hands (O'Sullivan-McLeod syndrome): clinical and magnetic resonance imaging presentation. (11041339)
2000
39
Study of NAIP gene in spinal muscular atrophy]. (10194256)
1999
40
Analysis of creatine kinase activity in 504 patients with proximal spinal muscular atrophy types I-III from the point of view of progression and severity. (9605392)
1998
41
Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. (9245983)
1997
42
Pathological cases of the month. Type 1 spinal muscular atrophy (Werdnig-Hoffman disease). (8352229)
1993
43
Becker's model and prenatal diagnosis in proximal spinal muscular atrophy (SMA): a note of caution. (2063872)
1991
44
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. (2062380)
1991
45
X-linked spinal muscular atrophy (Kennedy's syndrome). A kindred with hypobetalipoproteinemia. (2222245)
1990
46
Nemaline bodies in spinal progressive muscular atrophy. An autopsy case. (2821729)
1987
47
Diaphragm paralysis and ventilatory failure in chronic proximal spinal muscular atrophy. (7224359)
1981
48
Case study: progressive muscular atrophy. (5178995)
1966
49
A VIRGINIA KINSHIP WITH HEREDITARY SENSORY NEUROPATHY: PERONEAL MUSCULAR ATROPHY AND PES CAVUS. (14341177)
1965
50
Three Cases (Progressive Muscular Atrophy and Infantile Paralysis) illustrating the Localisation of Motor Centres in the Brachial Enlargement of the Spinal Cord. (20896654)
1885

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

Search GEO for disease gene expression data for Muscular Atrophy.

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