MCID: MSC003
MIFTS: 53

Muscular Atrophy malady

Muscle diseases, Neuronal diseases categories

Summaries for Muscular Atrophy

About this section
Sources:
66Wikipedia, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Wikipedia:66 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 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

About this section
Sources:
9Disease Ontology, 11DISEASES, 63UMLS, 59SNOMED-CT, 36MeSH
See all sources

Classifications:

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


Aliases & Descriptions:

muscular atrophy 9 11 63
wasting - muscle 9
amyotrophia nos 9
muscle wasting 9
muscle atrophy 9


External Ids:

Disease Ontology9 DOID:767
MeSH36 D009133

Related Diseases for Muscular Atrophy

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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 277)
idRelated DiseaseScoreTop Affiliating Genes
1spinal muscular atrophy32.1SMN1, DDX20, GTF2H2, NAIP, SMN2
2progressive muscular atrophy31.5SMN1
3juvenile spinal muscular atrophy31.1NAIP, SMN2, SMN1
4spinal muscular atrophy type 231.1SMN1, SMN2, NAIP
5spinal muscular atrophy 130.9SMN2, GTF2H2, NAIP, SMN1
6amyotrophic lateral sclerosis30.8SMN2, SMN1, DCTN1, NAIP
7motor neuron disease30.6SMN1, SMN2, DCTN1, NAIP, AR
8neuropathy30.4SACS, SMN2, SMN1
9neuromuscular disease30.3SMN1, SMN2, DCTN1, NAIP, AR
10neuronitis11.0
11proximal spinal muscular atrophy10.8
12spinal muscular atrophy with respiratory distress 110.8
13spinal-bulbar muscular atrophy10.7
14adult spinal muscular atrophy10.7
15kennedy's disease10.7
16muscular dystrophy10.6
17lateral sclerosis10.6
18werdnig-hoffmann disease10.6
19spinal muscular atrophy with progressive myoclonic epilepsy10.6
20distal spinal muscular atrophy, type v10.5
21x-linked spinal-bulbar muscle atrophy10.5
22spinal muscular atrophy, lower extremity-predominant, ad10.5
23charcot-marie-tooth disease10.5
24monomelic amyotrophy10.4
25distal congenital nonprogressive spinal muscular atrophy10.4
26spinal muscular atrophy, lower extremity-predominant, 2, ad10.4
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, x-linked 2, infantile10.4
35distal hereditary motor neuropathy type 110.4
36troyer syndrome10.3
37myopathy with postural muscle atrophy, x-linked10.3
38duchenne muscular dystrophy10.3
39myopathy10.3
40tooth disease10.3
41spinal muscular atrophy, x-linked infantile10.3
42muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.3
43spinal muscular atrophy, distal, autosomal recessive, 410.3
44spinal muscular atrophy with respiratory distress type 210.3
45becker muscular dystrophy10.3
46postpoliomyelitis syndrome10.3
47myotonic dystrophy10.3
48survival motor neuron spinal muscular atrophy10.3
49amyotrophy, neurogenic scapuloperoneal, new england type10.3
50spinal muscular atrophy type 1 with congenital bone fractures10.3

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



Diseases related to muscular atrophy

Symptoms for Muscular Atrophy

About this section

Drugs & Therapeutics for Muscular Atrophy

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

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

About this section

Anatomical Context for Muscular Atrophy

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Muscular Atrophy:

34
Heart, Testes, Skeletal muscle, Bone, Spinal cord, Brain, Prostate, Lung, Eye, Tongue, Skin

Animal Models for Muscular Atrophy or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Muscular Atrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.8AR, DCTN1, SMN1, ATP7A, DDX20
2MP:00053767.8AR, DDX20, ATP7A, SMN1, SERF1A, NAIP

Publications for Muscular Atrophy

About this section
Sources:
53PubMed
See all sources

Articles related to Muscular Atrophy:

(show top 50)    (show all 1141)
idTitleAuthorsYear
1
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. (24207122)
2013
2
A case report of extended neurogenic muscular atrophy related to SAPHO syndrome. (24158656)
2013
3
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
4
Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling. (22490618)
2012
5
Antisense-based therapy for the treatment of spinal muscular atrophy. (23027901)
2012
6
Stem cells in severe infantile spinal muscular atrophy (SMA1). (23206851)
2012
7
Current status of treatment of spinal and bulbar muscular atrophy. (22720173)
2012
8
SMN-inducing compounds for the treatment of spinal muscular atrophy. (23157239)
2012
9
Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy (SBMA). (22476656)
2012
10
Impaired mandibular function in spinal muscular atrophy type II: need for early recognition. (21596705)
2011
11
Detection of spinal muscular atrophy carriers in a sample of the Brazilian population. (21335981)
2011
12
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
13
Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy. (19517146)
2010
14
Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: simultaneous detection of SMN1 and SMN2 deletion. (20025960)
2010
15
Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy. (20869592)
2010
16
Compound muscle action potential and motor function in children with spinal muscular atrophy. (20737553)
2010
17
Spinal muscular atrophy: diagnosis, treatment and future prospects. (20711542)
2010
18
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. (20530331)
2010
19
Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice. (20089893)
2010
20
Stem cell-derived neurotrophic support for the neuromuscular junction in spinal muscular atrophy. (20955113)
2010
21
Contractures of the upper extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection. (21057148)
2010
22
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. (19646678)
2009
23
Universal multiplex PCR and CE for quantification of SMN1/SMN2 genes in spinal muscular atrophy. (19373809)
2009
24
Malignant ventricular arrhythmia in a case of adult onset of spinal muscular atrophy (Kugelberg-Welander disease). (19175839)
2009
25
Induced pluripotent stem cells from a spinal muscular atrophy patient. (19098894)
2009
26
Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. (19158308)
2009
27
Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy. (18172693)
2008
28
Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature. (18266240)
2008
29
Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy. (18321505)
2008
30
Spinal muscular atrophy diagnostics. (17761649)
2007
31
A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy. (18006961)
2007
32
Rapid diagnosis of spinal muscular atrophy using denaturing high-performance liquid chromatography. (15952118)
2005
33
Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper. (15720302)
2005
34
In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacement. (16000068)
2005
35
Quantitative analysis of SMN gene copies in spinal muscular atrophy]. (15079799)
2004
36
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
37
Spinal muscular atrophy of childhood at the edge of the centuries. (11996521)
2001
38
Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy. (11181573)
2001
39
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
40
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. (10339583)
1999
41
No evidence of association between apolipoprotein E genotype and phenotypic severity in childhood onset proximal spinal muscular atrophy. (10545039)
1999
42
Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy. (9499423)
1998
43
Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy. (9708548)
1998
44
Gene deletions in spinal muscular atrophy. (8929942)
1996
45
Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. (7731968)
1995
46
Guanidine hydrochloride in infantile and juvenile spinal muscular atrophy. A double blind controlled study. (7027754)
1980
47
CSF viral antibodies. Evaluation in amyotrophic lateral sclerosis and late-onset postpoliomyelitis progressive muscular atrophy. (220938)
1979
48
Progressive muscular atrophy of the peroneal type (Charcot-Marie-Tooth disease) orthopaedic management and end-result study. (15401720)
1950
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

About this section

Expression for genes affiliated with Muscular Atrophy

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 56Reactome, 31KEGG
See all sources

Compounds for genes affiliated with Muscular Atrophy

About this section
Sources:
46Novoseek, 62Tocris Bioscience, 30IUPHAR, 12DrugBank, 52PharmGKB
See all sources

Compounds related to Muscular Atrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nsc344610.1AR, SMN2
2aclarubicin4610.1SMN1, SMN2
3cl-4as-1629.9AR, SACS
4phenylbutyrate469.9SMN2, SMN1
5nilutamide46 62 30 1212.8AR, SACS
6bicalutamide46 62 1211.8AR, SACS
7flutamide46 62 1211.5AR, SACS
8cisplatin46 52 62 1211.6ATP7A, NAIP, RAN, GTF2H2

GO Terms for genes affiliated with Muscular Atrophy

About this section
Sources:
17Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscular Atrophy

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet