MCID: MSC003
MIFTS: 54

Muscular Atrophy malady

Muscle diseases, Neuronal diseases categories
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Summaries for Muscular Atrophy

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Wikipedia:65 Muscle atrophy is defined as a decrease in the mass of the muscle; it can be a partial or complete... more...

MalaCards based summary: Muscular Atrophy, also known as wasting - muscle, is related to spinal muscular atrophy and progressive muscular atrophy. An important gene associated with Muscular Atrophy is SMN1 (survival of motor neuron 1, telomeric), and among its related pathways are Regulation of Glucokinase by Glucokinase Regulatory Protein and RNA transport. The compounds nsc34 and aclarubicin have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and skeletal muscle, and related mouse phenotypes are embryogenesis and homeostasis/metabolism.

Aliases & Classifications for Muscular Atrophy

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Muscular Atrophy, Aliases & Descriptions:

Name: Muscular Atrophy 8 10 62
Wasting - Muscle 8
Amyotrophia Nos 8
 
Muscle Atrophy 8
Muscle Wasting 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:767
MeSH34 D009133

Related Diseases for Muscular Atrophy

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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 288)
idRelated DiseaseScoreTop Affiliating Genes
1spinal muscular atrophy32.0SMN1, DDX20, GTF2H2, NAIP, SMN2
2progressive muscular atrophy31.9SMN1
3juvenile spinal muscular atrophy31.4NAIP, SMN2, SMN1
4spinal muscular atrophy type 231.3SMN1, SMN2, NAIP
5spinal muscular atrophy 130.9SMN2, GTF2H2, NAIP, SMN1
6motor neuron disease30.5SMN1, SMN2, DCTN1, NAIP, AR
7neuromuscular disease30.2SMN1, SMN2, DCTN1, NAIP, AR
8neuropathy30.2SACS, SMN2, SMN1
9neuronitis11.0
10proximal spinal muscular atrophy10.9
11spinal muscular atrophy with respiratory distress 110.8
12kennedy's disease10.8
13adult spinal muscular atrophy10.7
14lateral sclerosis10.6
15amyotrophic lateral sclerosis10.6
16muscular dystrophy10.6
17spinal muscular atrophy with progressive myoclonic epilepsy10.6
18werdnig-hoffmann disease10.6
19distal spinal muscular atrophy, type v10.6
20x-linked spinal-bulbar muscle atrophy10.5
21spinal muscular atrophy, lower extremity-predominant 1, ad10.5
22charcot-marie-tooth disease10.5
23monomelic amyotrophy10.5
24distal congenital nonprogressive spinal muscular atrophy10.5
25spinal muscular atrophy, lower extremity-predominant, 2, ad10.4
26troyer syndrome10.4
27spinal muscular atrophy, late-onset, finkel type10.4
28blindness10.4
29distal spinal muscular atrophy type 310.4
30intermediate spinal muscular atrophy10.4
31adult progressive spinal muscular atrophy aran duchenne type10.4
32neuropathy, distal hereditary motor, jerash type10.4
33spinal muscular atrophy ryukyuan type10.4
34spinal muscular atrophy, distal, autosomal recessive, 410.4
35spinal muscular atrophy, x-linked 2, infantile10.4
36distal hereditary motor neuropathy type 110.4
37duchenne muscular dystrophy10.3
38myopathy10.3
39survival motor neuron spinal muscular atrophy10.3
40tooth disease10.3
41spinal muscular atrophy, x-linked infantile10.3
42amyotrophy, neurogenic scapuloperoneal, new england type10.3
43muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.3
44spinal muscular atrophy with respiratory distress type 210.3
45myopathy with postural muscle atrophy, x-linked10.3
46becker muscular dystrophy10.3
47myotonic dystrophy10.3
48spinal muscular atrophy type 1 with congenital bone fractures10.3
49ataxia10.3
50o'sullivan-mcleod syndrome10.3

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



Diseases related to muscular atrophy

Symptoms for Muscular Atrophy

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Drugs & Therapeutics for Muscular Atrophy

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Drug clinical trials:

Search ClinicalTrials for Muscular Atrophy

Search NIH Clinical Center for Muscular Atrophy

Genetic Tests for Muscular Atrophy

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Anatomical Context for Muscular Atrophy

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MalaCards organs/tissues related to Muscular Atrophy:

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

Animal Models for Muscular Atrophy or affiliated genes

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MGI Mouse Phenotypes related to Muscular Atrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.8AR, DCTN1, SMN1, ATP7A, DDX20
2MP:00053767.8AR, DDX20, ATP7A, SMN1, SERF1A, NAIP

Publications for Muscular Atrophy

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Articles related to Muscular Atrophy:

(show top 50)    (show all 1181)
idTitleAuthorsYear
1
Theory of mind, empathy and neuropsychological functioning in X-linked Spinal and Bulbar Muscular Atrophy: a controlled study of 20 patients. (25408365)
2014
2
GEMINs: potential therapeutic targets for spinal muscular atrophy? (25360080)
2014
3
A novel evaluation method of survival motor neuron protein as a biomarker of spinal muscular atrophy by imaging flow cytometry. (25264200)
2014
4
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. (24207122)
2013
5
A case report of extended neurogenic muscular atrophy related to SAPHO syndrome. (24158656)
2013
6
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. (24162038)
2013
7
Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling. (22490618)
2012
8
Antisense-based therapy for the treatment of spinal muscular atrophy. (23027901)
2012
9
Stem cells in severe infantile spinal muscular atrophy (SMA1). (23206851)
2012
10
Current status of treatment of spinal and bulbar muscular atrophy. (22720173)
2012
11
SMN-inducing compounds for the treatment of spinal muscular atrophy. (23157239)
2012
12
Impaired mandibular function in spinal muscular atrophy type II: need for early recognition. (21596705)
2011
13
Detection of spinal muscular atrophy carriers in a sample of the Brazilian population. (21335981)
2011
14
SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy. (21754985)
2011
15
Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy. (19517146)
2010
16
Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: simultaneous detection of SMN1 and SMN2 deletion. (20025960)
2010
17
Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy. (20869592)
2010
18
Compound muscle action potential and motor function in children with spinal muscular atrophy. (20737553)
2010
19
Spinal muscular atrophy: diagnosis, treatment and future prospects. (20711542)
2010
20
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. (20530331)
2010
21
Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice. (20089893)
2010
22
Stem cell-derived neurotrophic support for the neuromuscular junction in spinal muscular atrophy. (20955113)
2010
23
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. (19646678)
2009
24
Universal multiplex PCR and CE for quantification of SMN1/SMN2 genes in spinal muscular atrophy. (19373809)
2009
25
Malignant ventricular arrhythmia in a case of adult onset of spinal muscular atrophy (Kugelberg-Welander disease). (19175839)
2009
26
Induced pluripotent stem cells from a spinal muscular atrophy patient. (19098894)
2009
27
Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. (19158308)
2009
28
Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy. (18172693)
2008
29
Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature. (18266240)
2008
30
Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy. (18321505)
2008
31
Spinal muscular atrophy diagnostics. (17761649)
2007
32
A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy. (18006961)
2007
33
Gait recovery in a distal spinal muscular atrophy patient wearing a patellar tendon-bearing orthosis and orthopaedic shoes. (17351703)
2007
34
Rapid diagnosis of spinal muscular atrophy using denaturing high-performance liquid chromatography. (15952118)
2005
35
Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper. (15720302)
2005
36
Quantitative analysis of SMN gene copies in spinal muscular atrophy]. (15079799)
2004
37
Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity. (12242541)
2002
38
Spinal muscular atrophy of childhood at the edge of the centuries. (11996521)
2001
39
Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy. (11181573)
2001
40
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
41
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. (10339583)
1999
42
No evidence of association between apolipoprotein E genotype and phenotypic severity in childhood onset proximal spinal muscular atrophy. (10545039)
1999
43
Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy. (9499423)
1998
44
Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy. (9708548)
1998
45
Gene deletions in spinal muscular atrophy. (8929942)
1996
46
Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. (7731968)
1995
47
Guanidine hydrochloride in infantile and juvenile spinal muscular atrophy. A double blind controlled study. (7027754)
1980
48
CSF viral antibodies. Evaluation in amyotrophic lateral sclerosis and late-onset postpoliomyelitis progressive muscular atrophy. (220938)
1979
49
Progressive muscular atrophy; and other conditions of muscular wasting. (20292923)
1946
50
Contributions to the symptomatology of amyotonia congenita (infantile spinal muscular atrophy). (21026460)
1946

Variations for Muscular Atrophy

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Expression for genes affiliated with Muscular Atrophy

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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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Compounds for genes affiliated with Muscular Atrophy

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Compounds related to Muscular Atrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nsc344410.1AR, SMN2
2aclarubicin4410.1SMN1, SMN2
3cl-4as-1619.9AR, SACS
4phenylbutyrate449.9SMN2, SMN1
5nilutamide44 61 28 1112.8AR, SACS
6bicalutamide44 61 1111.8AR, SACS
7flutamide44 61 1111.5AR, SACS
8cisplatin44 50 61 1111.6ATP7A, NAIP, RAN, GTF2H2

GO Terms for genes affiliated with Muscular Atrophy

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Cellular components related to Muscular Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Gemini of coiled bodiesGO:0975049.9DDX20, SMN2
2SMN complexGO:0327979.9DDX20, SMN2
3SMN-Sm protein complexGO:0347199.8DDX20, SMN2
4cytosolGO:0058298.3SMN2, DDX20, DCTN1, PLEKHG5, RAN, ATP7A
5nucleoplasmGO:0056548.1DDX20, GTF2H2, AR, RAN, SMN2
6cytoplasmGO:0057377.2DDX20, NAIP, SACS, PLEKHG5, RAN, AR

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

idNameGO IDScoreTop Affiliating Genes
1ncRNA metabolic processGO:0346609.9DDX20, SMN2
2androgen receptor signaling pathwayGO:0305219.8AR, RAN
3spliceosomal snRNP assemblyGO:0003879.8SMN2, DDX20
4nervous system developmentGO:0073999.1NAIP, DCTN1, SMN2
5cell deathGO:0082199.1AR, SACS, DCTN1, SMN2
6gene expressionGO:0104678.4DDX20, SMN2, RAN, GTF2H2, AR

Molecular functions related to Muscular Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.7AR, GTF2H2, RAN, NAIP, DCTN1, SMN2

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet