MCID: MSC003
MIFTS: 44

Muscular Atrophy malady

Muscle diseases category

Aliases & Classifications for Muscular Atrophy

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Muscular Atrophy, Aliases & Descriptions:

Name: Muscular Atrophy 9 11 60
Wasting - Muscle 9
Amyotrophia Nos 9
 
Muscle Wasting 9
Muscle Atrophy 9


Classifications:

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


External Ids:

Disease Ontology9 DOID:767
MeSH33 D009133

Summaries for Muscular Atrophy

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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 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 bone, testes and skeletal muscle, and related mouse phenotypes are embryogenesis and homeostasis/metabolism.

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 Suite gene sharing:

(show top 50)    (show all 297)
idRelated DiseaseScoreTop Affiliating Genes
1spinal muscular atrophy31.9DDX20, SMN1, SMN2, NAIP, GTF2H2
2progressive muscular atrophy31.8SMN1
3juvenile spinal muscular atrophy31.4SMN1, SMN2, NAIP
4spinal muscular atrophy-231.3SMN1, SMN2, NAIP
5spinal muscular atrophy-130.8GTF2H2, NAIP, SMN2, SMN1
6motor neuron disease30.4AR, NAIP, DCTN1, SMN2, SMN1
7neuropathy30.1SACS, SMN2, SMN1
8neuromuscular disease30.1SMN1, SMN2, DCTN1, NAIP, AR
9amyotrophic lateral sclerosis 129.7SMN1, SMN2, DCTN1, NAIP
10neuronitis11.0
11spinal and bulbar muscular atrophy of kennedy10.8
12neuronopathy, distal hereditary motor, type vi10.8
13lateral sclerosis10.6
14muscular dystrophy10.6
15spinal muscular atrophy with progressive myoclonic epilepsy10.6
16spinal muscular atrophy-410.6
17spinal muscular atrophy, x-linked 2, infantile10.5
18adult spinal muscular atrophy10.5
19scapuloperoneal spinal muscular atrophy10.5
20multiple system atrophy10.5
21monomelic amyotrophy10.5
22troyer syndrome10.5
23charcot-marie-tooth disease10.4
24spinal muscular atrophy, distal, congenital nonprogressive10.4
25spinal muscular atrophy, late-onset, finkel type10.4
26spinal muscular atrophy, lower extremity-predominant 1, ad10.4
27scoliosis10.4
28spinal muscular atrophy ryukyuan type10.4
29neuropathy, distal hereditary motor, jerash type10.4
30spinal muscular atrophy, lower extremity-predominant, 2, ad10.4
31adult progressive spinal muscular atrophy aran duchenne type10.4
32jankovic rivera syndrome10.4
33blindness10.4
34autosomal dominant congenital benign spinal muscular atrophy10.4
35distal spinal muscular atrophy type 310.4
36autosomal dominant childhood-onset proximal spinal muscular atrophy10.4
37proximal spinal muscular atrophy type 410.4
38neuronopathy, distal hereditary motor, type i10.3
39spinal muscular atrophy, distal, x-linked 310.3
40survival motor neuron spinal muscular atrophy10.3
41spinal muscular atrophy type 1 with congenital bone fractures10.3
42autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures10.3
43autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures10.3
44spinal muscular atrophy with respiratory distress type 210.3
45myopathy, x-linked, with postural muscle atrophy10.3
46pelvic muscle wasting10.3
47spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation10.3
48spinal muscular atrophy, distal, autosomal recessive, 410.3
49spinal muscular atrophy, distal, autosomal recessive, 510.3
50spinal muscular atrophy, jokela type10.3

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:

31
Bone, Testes, Skeletal muscle, Spinal cord, Heart, Brain, Lung, Prostate, Tongue, Eye, Skin

Animal Models for Muscular Atrophy or affiliated genes

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MGI Mouse Phenotypes related to Muscular Atrophy:

35
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 1209)
idTitleAuthorsYear
1
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1. (25847462)
2015
2
Theory of mind, empathy and neuropsychological functioning in X-linked Spinal and Bulbar Muscular Atrophy: a controlled study of 20 patients. (25408365)
2014
3
GEMINs: potential therapeutic targets for spinal muscular atrophy? (25360080)
2014
4
A novel evaluation method of survival motor neuron protein as a biomarker of spinal muscular atrophy by imaging flow cytometry. (25264200)
2014
5
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. (24207122)
2013
6
A case report of extended neurogenic muscular atrophy related to SAPHO syndrome. (24158656)
2013
7
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
8
Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling. (22490618)
2012
9
Antisense-based therapy for the treatment of spinal muscular atrophy. (23027901)
2012
10
Stem cells in severe infantile spinal muscular atrophy (SMA1). (23206851)
2012
11
Current status of treatment of spinal and bulbar muscular atrophy. (22720173)
2012
12
SMN-inducing compounds for the treatment of spinal muscular atrophy. (23157239)
2012
13
Impaired mandibular function in spinal muscular atrophy type II: need for early recognition. (21596705)
2011
14
Detection of spinal muscular atrophy carriers in a sample of the Brazilian population. (21335981)
2011
15
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
16
Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy. (19517146)
2010
17
Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: simultaneous detection of SMN1 and SMN2 deletion. (20025960)
2010
18
Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy. (20869592)
2010
19
Compound muscle action potential and motor function in children with spinal muscular atrophy. (20737553)
2010
20
Spinal muscular atrophy: diagnosis, treatment and future prospects. (20711542)
2010
21
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. (20530331)
2010
22
Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice. (20089893)
2010
23
Stem cell-derived neurotrophic support for the neuromuscular junction in spinal muscular atrophy. (20955113)
2010
24
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. (19646678)
2009
25
Universal multiplex PCR and CE for quantification of SMN1/SMN2 genes in spinal muscular atrophy. (19373809)
2009
26
Malignant ventricular arrhythmia in a case of adult onset of spinal muscular atrophy (Kugelberg-Welander disease). (19175839)
2009
27
Induced pluripotent stem cells from a spinal muscular atrophy patient. (19098894)
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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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 Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1nsc344310.1AR, SMN2
2aclarubicin4310.1SMN1, SMN2
3cl-4as-1599.9AR, SACS
4phenylbutyrate439.9SMN2, SMN1
5nilutamide43 59 28 1212.8AR, SACS
6bicalutamide43 59 1211.8AR, SACS
7flutamide43 59 1211.5AR, SACS
8cisplatin43 49 59 1211.6ATP7A, NAIP, RAN, GTF2H2

GO Terms for genes affiliated with Muscular Atrophy

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Cellular components related to Muscular Atrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Gemini of coiled bodiesGO:00975049.9SMN2, DDX20
2SMN complexGO:00327979.9SMN2, DDX20
3SMN-Sm protein complexGO:00347199.8DDX20, SMN2
4cytosolGO:00058298.3ATP7A, SMN2, DCTN1, PLEKHG5, RAN, DDX20
5nucleoplasmGO:00056548.1AR, GTF2H2, RAN, SMN2, DDX20
6cytoplasmGO:00057377.2AR, DDX20, SMNDC1, SMN2, DCTN1, NAIP

Biological processes related to Muscular Atrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ncRNA metabolic processGO:00346609.9DDX20, SMN2
2androgen receptor signaling pathwayGO:00305219.8AR, RAN
3spliceosomal snRNP assemblyGO:00003879.8SMN2, DDX20
4nervous system developmentGO:00073999.1NAIP, DCTN1, SMN2
5cell deathGO:00082199.1AR, SACS, DCTN1, SMN2
6gene expressionGO:00104678.4DDX20, SMN2, RAN, GTF2H2, AR

Molecular functions related to Muscular Atrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055156.7AR, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet