MCID: MSC003
MIFTS: 51

Muscular Atrophy malady

Muscle category

Summaries for Muscular Atrophy

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 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 whole blood, brain and retina.

Aliases & Classifications for Muscular Atrophy

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 57SNOMED-CT, 35MeSH
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Classifications:

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


Aliases & Descriptions:

muscular atrophy 8 10 61
wasting - muscle 8
amyotrophia nos 8
muscle wasting 8
muscle atrophy 8


External Ids:

Disease Ontology8 DOID:767
MeSH35 D009133

Related Diseases for Muscular Atrophy

Sources:
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 247)
idRelated DiseaseScoreTop Affiliating Genes
1spinal muscular atrophy32.2SMN1, GTF2H2, NAIP, DDX20, SMN2
2juvenile spinal muscular atrophy31.1SMN2, SMN1, NAIP
3spinal muscular atrophy type 230.8SMN1, NAIP, SMN2
4spinal muscular atrophy 130.8SMN1, GTF2H2, SMN2, NAIP
5spinal-bulbar muscular atrophy11.0
6progressive muscular atrophy11.0
7survival motor neuron spinal muscular atrophy10.8
8proximal spinal muscular atrophy10.8
9adult spinal muscular atrophy10.8
10spinal muscular atrophy with respiratory distress 110.7
11kennedy's disease10.6
12werdnig-hoffman disease10.6
13lateral sclerosis10.6
14amyotrophic lateral sclerosis10.6
15werdnig-hoffmann disease10.6
16x-linked spinal-bulbar muscle atrophy10.5
17spinal muscular atrophy with progressive myoclonic epilepsy10.5
18distal spinal muscular atrophy, type v10.5
19distal congenital nonprogressive spinal muscular atrophy10.4
20spinal muscular atrophy, lower extremity-predominant, ad10.4
21intermediate spinal muscular atrophy10.4
22duchenne muscular dystrophy10.4
23monomelic amyotrophy10.4
24adult progressive spinal muscular atrophy aran duchenne type10.3
25spinal muscular atrophy ryukyuan type10.3
26spinal muscular atrophy, lower extremity-predominant, 2, ad10.3
27spinal muscular atrophy, x-linked 2, infantile10.3
28distal spinal muscular atrophy type 310.3
29troyer syndrome10.3
30myopathy with postural muscle atrophy, x-linked10.3
31n syndrome10.3
32tooth disease10.3
33arthrogryposis spinal muscular atrophy10.3
34neuropathy, distal hereditary motor, jerash type10.3
35muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.3
36spinal muscular atrophy, late-onset, finkel type10.3
37distal hereditary motor neuropathy type 110.3
38becker muscular dystrophy10.3
39postpoliomyelitis syndrome10.3
40spinal muscular atrophy, x-linked infantile10.3
41amyotrophy, neurogenic scapuloperoneal, new england type10.3
42spinal muscular atrophy type 1 with congenital bone fractures10.3
43spinal muscular atrophy, lower extremity, autosomal dominant10.3
44ataxia10.3
45spinal muscular atrophy, distal, autosomal recessive, 410.3
46pelvic muscle wasting10.2
47spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation10.2
48axonal neuropathy10.2
49olivopontocerebellar atrophy10.2
50limb-girdle muscular dystrophy10.2

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



Diseases related to muscular atrophy

Clinical Features for Muscular Atrophy

Drugs & Therapeutics for Muscular Atrophy

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Muscular Atrophy

Sources:
33MalaCards
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MalaCards organs/tissues related to Muscular Atrophy:

33
Whole blood, Brain, Retina, Spinal cord, Heart, Skeletal muscle, Small intestine, Lung, Skin, Prostate, T cells, Fetal brain, Ciliary ganglion, Tongue, Fetal lung

Animal Models for Muscular Atrophy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Muscular Atrophy

Sources:
51PubMed
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Articles related to Muscular Atrophy:

(show top 50)    (show all 1163)
idTitleAuthorsYear
1
Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy. (23443997)
2013
2
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. (23664120)
2013
3
Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I. (23146148)
2013
4
Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type I. (22832342)
2012
5
Decreasing disease severity in symptomatic, Smn(-/-);SMN2(+/+), spinal muscular atrophy mice following scAAV9-SMN delivery. (22029744)
2012
6
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. (22847149)
2012
7
Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy. (22424789)
2012
8
Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients. (21821450)
2012
9
Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study. (22558154)
2012
10
Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3. (23115209)
2012
11
Drug treatment for spinal muscular atrophy type I. (22513939)
2012
12
Anesthetic management of a parturient with spinal muscular atrophy type II. (22999982)
2012
13
A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects. (22813737)
2012
14
Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice. (21693563)
2011
15
Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability. (21610752)
2011
16
Lower incidence of deletions in the survival of motor neuron gene and the neuronal apoptosis inhibitory protein gene in children with spinal muscular atrophy from Serbia. (21971302)
2011
17
Progress and promise: the current status of spinal muscular atrophy therapeutics. (22031667)
2011
18
Developments in the discovery of drugs for spinal muscular atrophy: successful beginnings and future prospects. (22651125)
2011
19
Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid. (20551479)
2011
20
The spinal muscular atrophy mouse model, SMAI97, displays altered axonal transport without global neurofilament alterations. (21681521)
2011
21
Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: simultaneous detection of SMN1 and SMN2 deletion. (20025960)
2010
22
Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy. (20211907)
2010
23
Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy. (19642194)
2010
24
A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity. (20194437)
2010
25
Genetic tests and clinical re-evaluation of 85 children with suspected spinal muscular atrophy]. (21055263)
2010
26
Genetic therapy for spinal muscular atrophy. (20212484)
2010
27
Special considerations in the respiratory management of spinal muscular atrophy. (19420154)
2009
28
Drug treatment for spinal muscular atrophy type I. (19160274)
2009
29
Molecular analysis and prenatal prediction of spinal muscular atrophy in Chinese patients by the combination of restriction fragment length polymorphism analysis, denaturing high-performance liquid chromatography, and linkage analysis. (17296838)
2007
30
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. (16508748)
2006
31
Fine-mapping and candidate gene analysis of bovine spinal muscular atrophy. (16416092)
2006
32
Myasthenia gravis with anti-MuSK antibody, showing progressive muscular atrophy without blepharoptosis. (16020904)
2005
33
Spinal muscular atrophy and mitochondrial DNA depletion. Response to Berber et al. (2003) Acta Neuropathol 105:245-251. (12687391)
2003
34
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. (12548734)
2003
35
Spinal muscular atrophy of childhood at the edge of the centuries. (11996521)
2001
36
Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMN. (11302690)
2001
37
Clinical & genetic analysis of four patients with distal upper limb spinal muscular atrophy. (11921836)
2001
38
No evidence of association between apolipoprotein E genotype and phenotypic severity in childhood onset proximal spinal muscular atrophy. (10545039)
1999
39
Study of NAIP gene in spinal muscular atrophy]. (10194256)
1999
40
SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins. (10500148)
1999
41
Cramps and minimal EMG abnormalities as preclinical manifestations of spinal muscular atrophy patients with homozygous deletions of the SMN gene. (9153488)
1997
42
A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. (9077498)
1997
43
Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy. (8926495)
1996
44
Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern. (8887955)
1996
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
Autosomal dominant late adult spinal muscular atrophy, type Finkel. (7258225)
1981
48
Inhibition of arginine-glycine amidinotransferase by ornithine. A possible mechanism for the muscular and chorioretinal atrophies in gyrate atrophy of the choroid and retina with hyperornithinemia. (7378422)
1980
49
The Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy). (5173132)
1971
50
Case study: progressive muscular atrophy. (5178995)
1966

Genetic Variations for Muscular Atrophy

Expression for genes affiliated with Muscular Atrophy

Sources:
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

Sources:
30KEGG, 54Reactome, 38NCBI 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
Hide members
10.6SMN1, DDX20
3
Hide members
10.6AREG, AREGB

Compounds for genes affiliated with Muscular Atrophy

Sources:
60Tocris Bioscience, 45Novoseek, 29IUPHAR, 11DrugBank, 50PharmGKB, 24HMDB
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Compounds related to Muscular Atrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cl-4as-16011.0FDXR, AR, AREG, AREGB, SACS
2nilutamide45 60 29 1113.9SACS, AREGB, AREG, AR, FDXR
3flutamide45 60 1112.9FDXR, AR, AREG, AREGB, SACS
4bicalutamide45 60 1112.9SACS, AREGB, AREG, AR, FDXR
5cisplatin45 50 60 1113.8AREG, ATP7A, NAIP, RAN, GTF2H2
6nsc344510.7SMN2, AR
7phenylbutyrate4510.6SMN2, SMN1
8aclarubicin4510.5SMN1, SMN2
9testosterone45 60 11 2413.5FDXR, AR, AREG, AREGB, SACS

GO Terms for genes affiliated with Muscular Atrophy

Sources:
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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  • Proteins
  • Lysates
  • Antibodies

Sources for Muscular Atrophy

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