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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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 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, Prostate, Lung, Tongue, Retina, 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
An open trial of long-term testosterone suppression in spinal and bulbar muscular atrophy. (23512333)
2013
2
Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I. (23542189)
2013
3
Cerebral involvement in spinal and bulbar muscular atrophy (Kennedy's disease): a pilot study of PET. (24120273)
2013
4
Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy. (22382180)
2012
5
Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy. (23029491)
2012
6
Rothmund-Thomson syndrome--a single case report with systemic muscular atrophy, multiple organ fibrosis and pulmonary cachexia. (22711845)
2012
7
Defects in neuromuscular junction remodelling in the Smn(2B/-) mouse model of spinal muscular atrophy. (22960106)
2012
8
Spinal muscular atrophy: an update. (21391754)
2011
9
Dysfunction of axonal membrane conductances in adolescents and young adults with spinal muscular atrophy. (21926101)
2011
10
Spinal muscular atrophy. (22047105)
2011
11
Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy. (19517146)
2010
12
Spinal muscular atrophy: diagnosis, treatment and future prospects. (20711542)
2010
13
Stem cell model of spinal muscular atrophy. (20558385)
2010
14
Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial. (20691641)
2010
15
Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy. (21085654)
2010
16
Treatment and complications in flaccid neuromuscular scoliosis (Duchenne muscular dystrophy and spinal muscular atrophy) with posterior-only pedicle screw instrumentation. (19885687)
2010
17
Cardiac defects contribute to the pathology of spinal muscular atrophy models. (20696672)
2010
18
Therapeutic developments in spinal muscular atrophy. (21179609)
2010
19
Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice. (20693262)
2010
20
Bulbar and spinal muscular atrophy (Kennedy's disease): a review. (19405197)
2009
21
Dexmedetomidine for awake fiberoptic intubation in a parturient with spinal muscular atrophy type III for cesarean delivery. (19733055)
2009
22
Interpretation of electrodiagnostic findings in sporadic progressive muscular atrophy. (18484238)
2008
23
Congenital heart disease is a feature of severe infantile spinal muscular atrophy. (18662980)
2008
24
A 53-year-old woman with muscular atrophy showing hypersomnia and respiratory failure. (18422909)
2008
25
Spinal muscular atrophy: SMN2 pre-mRNA splicing corrected by a U7 snRNA derivative carrying a splicing enhancer sequence. (17505471)
2007
26
Molecular analysis of the SMN1 and NAIP genes in Iranian patients with spinal muscular atrophy. (18071605)
2007
27
Motor neuron degeneration in a 20-week male fetus: spinal muscular atrophy type 0. (17598601)
2007
28
Spinal muscular atrophy: from gene to therapy. (17027862)
2006
29
A feasibility study for the newborn screening of spinal muscular atrophy. (16845275)
2006
30
Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper. (15720302)
2005
31
Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy. (15944201)
2005
32
Spinal muscular atrophy: a delayed development hypothesis. (15858401)
2005
33
Analysis of the survival motor neuron and neuronal apoptosis inhibitory protein genes in Malay patients with Spinal Muscular Atrophy. (15779584)
2004
34
Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). (15248100)
2004
35
Ocular myasthenia gravis associated with x-linked recessive spinal and bulbar muscular atrophy. (19078730)
2004
36
Spinal muscular atrophy in black South Africans: concordance with the universal SMN1 genotype. (12220455)
2002
37
Genetic testing and risk assessment for spinal muscular atrophy (SMA). (12436240)
2002
38
Gene deletion patterns in spinal muscular atrophy patients with different clinical phenotypes. (11287750)
2001
39
Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein. (11641277)
2001
40
Prenatal diagnosis of spinal muscular atrophy in Turkish families. (11243588)
2001
41
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. (11528396)
2001
42
Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene. (9153525)
1997
43
Expression of developmentally regulated cytoskeleton and cell surface proteins in childhood spinal muscular atrophies. (8583219)
1995
44
Identification of multiple transcribed sequences from the spinal muscular atrophy region of human chromosome 5. (7818533)
1995
45
Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy: clinical and molecular studies. (7998780)
1994
46
Exploring the mammalian neuromuscular system by analysis of mutations: spinal muscular atrophy and myotonia. (8008830)
1994
47
Anterior spinal artery syndrome mimicking infantile spinal muscular atrophy. (8397572)
1993
48
Expression of muscle cell surface antigen 5.1H11 in infantile or juvenile spinal muscular atrophy. (3736885)
1986
49
Neurogenic muscular atrophy of infancy with prolonged survival. The variable course of Werdnig-Hoffmann Disease. (5774034)
1969
50
Progressive Muscular Atrophy. (19976057)
1912

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

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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