PMA
MCID: PRG001
MIFTS: 39

Progressive Muscular Atrophy (PMA) malady

Categories: Neuronal diseases, Rare diseases, Muscle diseases, Bone diseases

Aliases & Classifications for Progressive Muscular Atrophy

Aliases & Descriptions for Progressive Muscular Atrophy:

Name: Progressive Muscular Atrophy 12 56 52 14 69
Progressive Spinal Muscular Atrophy 12
Pure Progressive Muscular Atrophy 12
Pma 56

Characteristics:

Orphanet epidemiological data:

56
progressive muscular atrophy
Inheritance: Not applicable; Age of onset: Adult; Age of death: adult,elderly;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:318
ICD10 33 G12.21
ICD9CM 35 335.21
MeSH 42 D009134
NCIt 47 C85027
SNOMED-CT 64 88923002
Orphanet 56 ORPHA454706
ICD10 via Orphanet 34 G12.2
UMLS 69 C0917981

Summaries for Progressive Muscular Atrophy

MalaCards based summary : Progressive Muscular Atrophy, also known as progressive spinal muscular atrophy, is related to adult progressive spinal muscular atrophy aran duchenne type and motor neuron disease. An important gene associated with Progressive Muscular Atrophy is SMN1 (Survival Of Motor Neuron 1, Telomeric). The drugs Methyltestosterone and Testosterone have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and brain, and related phenotypes are cellular and homeostasis/metabolism

Wikipedia : 71 Progressive muscular atrophy (PMA), also known as Duchenne-Aran muscular atrophy and by various other... more...

Related Diseases for Progressive Muscular Atrophy

Diseases in the Muscular Atrophy family:

Progressive Muscular Atrophy

Diseases related to Progressive Muscular Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
id Related Disease Score Top Affiliating Genes
1 adult progressive spinal muscular atrophy aran duchenne type 12.1
2 motor neuron disease 11.1
3 spinal muscular atrophy 11.1
4 spinal atrophy ophthalmoplegia pyramidal syndrome 11.1
5 spinal muscular atrophy-1 10.9
6 myopathy, distal, tateyama type 10.7
7 spinal muscular atrophy, distal, congenital nonprogressive 10.7
8 muscular atrophy 10.6
9 posterior polar cataract 10.2 SMN1 SMN2
10 shigellosis 10.2 SMN1 SMN2
11 pigmented nodular adrenocortical disease, primary, 3 10.2 SMN1 SMN2
12 spinal muscular atrophy-4 10.2 SMN1 SMN2
13 bipolar ll disorder 10.2 SMN1 SMN2
14 cardiac tuberculosis 10.2 SMN1 SMN2
15 sandhoff disease, infantile, juvenile, and adult forms 10.1 SMN1 SMN2
16 pseudohermaphrodism anorectal anomalies 10.1 SMN1 SMN2
17 lateral sclerosis 10.1
18 spinal muscular atrophy-3 10.1 SMN1 SMN2
19 phototoxic dermatitis 10.1 SMN1 SMN2 TRPV4
20 bladder urachal adenocarcinoma 10.1 SMN1 SMN2 TRPV4
21 spondylolisthesis 10.0 SMN1 SMN2 TRPV4
22 neuronitis 10.0
23 cerebral angioma 10.0 CAV3 SMN1 SMN2
24 osteogenesis imperfecta, type vi 10.0 C9orf72 TARDBP
25 sting-associated vasculopathy, infantile-onset 9.9 C9orf72 TARDBP
26 severe congenital nemaline myopathy 9.9 C9orf72 TARDBP
27 andersen syndrome 9.9 C9orf72 TARDBP
28 chorioamnionitis 9.9 C9orf72 TARDBP
29 poliomyelitis 9.9
30 neuropathy 9.9
31 multifocal motor neuropathy 9.9
32 adult mesenchymal chondrosarcoma 9.9 C9orf72 TARDBP
33 colorado tick fever 9.9 SMN1 SMN2 TARDBP
34 mitochondrial dna depletion syndrome 3 9.9 C9orf72 TARDBP
35 pancreatic solid pseudopapillary carcinoma 9.8 C9orf72 TARDBP
36 hypoproteinemia, hypercatabolic 9.8 C9orf72 SMN1 TARDBP
37 muscular dystrophy 9.8
38 lissencephaly 6, with microcephaly 9.8 LMNB1 TARDBP
39 pancreatic cancer/melanoma syndrome 9.8 C9orf72 TARDBP
40 autoimmune disease of urogenital tract 9.7 C9orf72 TARDBP
41 mucopolysaccharidosis iv 9.7 C9orf72 SMN1 SMN2 TARDBP
42 substance-induced psychosis 9.7 C9orf72 SMN1 SMN2 TARDBP
43 tooth disease 9.7
44 myoclonus 9.7
45 porphyria 9.7
46 addison's disease 9.7
47 candidiasis 9.7
48 klinefelter's syndrome 9.7
49 encephalitis 9.7
50 charcot-marie-tooth disease 9.7

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



Diseases related to Progressive Muscular Atrophy

Symptoms & Phenotypes for Progressive Muscular Atrophy

MGI Mouse Phenotypes related to Progressive Muscular Atrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.73 AIRE C9orf72 CAV3 LMNB1 SMN2 TARDBP
2 homeostasis/metabolism MP:0005376 9.7 AIRE C9orf72 CAV3 LMNB1 SMN2 TARDBP
3 muscle MP:0005369 9.35 SMN2 TARDBP TRPV4 CAV3 LMNB1
4 nervous system MP:0003631 9.1 AIRE C9orf72 LMNB1 SMN2 TARDBP TRPV4

Drugs & Therapeutics for Progressive Muscular Atrophy

Drugs for Progressive Muscular Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 113)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyltestosterone Approved Phase 4,Phase 3,Phase 2 58-18-4 6010
2
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2 58-22-0 6013
3 Anabolic Agents Phase 4,Phase 3,Phase 2
4 Androgens Phase 4,Phase 3,Phase 2
5 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
6 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
7 Hormones Phase 4,Phase 3,Phase 2,Phase 1
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
9 Testosterone 17 beta-cypionate Phase 4,Phase 3,Phase 2
10
Testosterone enanthate Phase 4,Phase 3,Phase 2 315-37-7 9416
11 Testosterone undecanoate Phase 4,Phase 3,Phase 2
12
Hydroxyurea Approved Phase 2, Phase 3,Phase 1 127-07-1 3657
13
4-Aminopyridine Approved Phase 2, Phase 3 504-24-5 1727
14
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
15
Valproic Acid Approved, Investigational Phase 3,Phase 2,Phase 1 99-66-1 3121
16 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3,Phase 1
17 Potassium Channel Blockers Phase 2, Phase 3
18 Anticonvulsants Phase 2, Phase 3, Phase 1
19 Excitatory Amino Acid Antagonists Phase 2, Phase 3
20 Excitatory Amino Acids Phase 2, Phase 3
21 Neuroprotective Agents Phase 2, Phase 3
22 Neurotransmitter Agents Phase 2, Phase 3, Phase 1
23 Protective Agents Phase 2, Phase 3
24 Antimanic Agents Phase 3,Phase 2,Phase 1
25 Central Nervous System Depressants Phase 3,Phase 2,Phase 1
26 GABA Agents Phase 3,Phase 2,Phase 1
27 Psychotropic Drugs Phase 3,Phase 2,Phase 1
28 Tranquilizing Agents Phase 3,Phase 2,Phase 1
29 Flax Nutraceutical Phase 3
30 Omega 3 Fatty Acid Nutraceutical Phase 3
31 carnitine Nutraceutical Phase 3,Phase 2,Phase 1
32 Piracetam Approved Phase 2 7491-74-9
33
Leuprolide Approved, Investigational Phase 2 53714-56-0 3911 657181
34
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
35 Antirheumatic Agents Phase 2
36 Interleukin 1 Receptor Antagonist Protein Phase 2
37 Pharmaceutical Solutions Phase 2,Phase 1,Early Phase 1
38 4-phenylbutyric acid Phase 1, Phase 2
39 Etiracetam Phase 2
40 Nootropic Agents Phase 2
41 Fertility Agents Phase 2
42 Analgesics Phase 2
43 Analgesics, Non-Narcotic Phase 2
44 Peripheral Nervous System Agents Phase 2,Early Phase 1
45 Bromides Phase 2
46 Cholinergic Agents Phase 2
47 Cholinesterase Inhibitors Phase 2
48 Pyridostigmine Bromide Phase 2 101-26-8
49 Anti-Inflammatory Agents Phase 2
50 Anti-Inflammatory Agents, Non-Steroidal Phase 2

Interventional clinical trials:

(show top 50) (show all 172)
id Name Status NCT ID Phase
1 Physiologic Effects of PRMS & Testosterone in the Debilitated Elderly Completed NCT00018356 Phase 4
2 A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Participants With Later-onset Spinal Muscular Atrophy (SMA) Completed NCT02292537 Phase 3
3 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3
4 A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy Completed NCT02193074 Phase 3
5 Short and Long Term Treatment With 4-AP in Ambulatory SMA Patients Completed NCT01645787 Phase 2, Phase 3
6 Study to Evaluate the Efficacy of Riluzole in Children and Young Adults With Spinal Muscular Atrophy (SMA) Completed NCT00774423 Phase 2, Phase 3
7 The Combined Effects of Resistance Training and Flax Oil Supplementation Upon Inflammation in Older Adults Completed NCT00465153 Phase 3
8 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Recruiting NCT01671384 Phase 3
9 A Study for Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in Nusinersen (ISIS 396443) Investigational Studies. Enrolling by invitation NCT02594124 Phase 3
10 Combining Testosterone Therapy and Exercise to Improve Function Post Hip Fracture Not yet recruiting NCT02938923 Phase 3
11 A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients Unknown status NCT00568802 Phase 1, Phase 2
12 Safety and Tolerability of Anakinra in Combination With Riluzol in Amyotrophic Lateral Sclerosis Unknown status NCT01277315 Phase 2
13 Transcranial Direct Current Stimulation as a Novel Therapeutic Approach in Amyotrophic Lateral Sclerosis Unknown status NCT01569958 Phase 2
14 Ghrelin Plus Strength Training in Frail Elderly Study Unknown status NCT01898611 Phase 2
15 Efficacy of Umbilical Cord Mesenchymal Stem Cells in Duchenne Muscular Dystrophy Unknown status NCT02285673 Phase 1, Phase 2
16 Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy Completed NCT00227266 Phase 2
17 Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy Completed NCT00481013 Phase 2
18 Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy Completed NCT00528268 Phase 1, Phase 2
19 CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type I Completed NCT00661453 Phase 1, Phase 2
20 An Open-label Safety, Tolerability and Dose-Range Finding Study of Multiple Doses of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy Completed NCT01703988 Phase 1, Phase 2
21 A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients Completed NCT00568698 Phase 1, Phase 2
22 Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Years SMA Patients. Completed NCT01302600 Phase 2
23 Pilot Study of Growth Hormon to Treat SMA Typ II and III Completed NCT00533221 Phase 2
24 Levetiracetam for Cramps, Spasticity and Neuroprotection in Motor Neuron Disease Completed NCT00324454 Phase 2
25 Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease Completed NCT00004771 Phase 2
26 Effects of Power Mobility on Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
27 Investigating Modes of Progressive Mobility Completed NCT00787098 Phase 2
28 Effect of Functional Exercise in Patients With Spinal Bulbar Muscular Atrophy Completed NCT01369901 Phase 1, Phase 2
29 Musculoskeletal Effects of Bicarbonate Completed NCT01475214 Phase 2
30 Treatment of Dysphagia in Oculopharyngeal Muscular Dystrophy by Autologous Transplantation of Myoblasts Completed NCT00773227 Phase 2
31 A Phase 2 Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Completed NCT01517880 Phase 2
32 A Study of CK-2127107 in Patients With Spinal Muscular Atrophy Recruiting NCT02644668 Phase 2
33 A Study of RO7034067 in Adult and Pediatric Participants With Spinal Muscular Atrophy Recruiting NCT03032172 Phase 2
34 Safety and Efficacy Study of Pyridostigmine on Patients With Spinal Muscular Atrophy Type 3 Recruiting NCT02227823 Phase 2
35 A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Infants With Type1 Spinal Muscular Atrophy (Firefish) Recruiting NCT02913482 Phase 2
36 A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Type 2 and 3 Spinal Muscular Atrophy Participants (Sunfish) Recruiting NCT02908685 Phase 2
37 SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4 Recruiting NCT02941328 Phase 2
38 Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman Patients Recruiting NCT02855112 Phase 1, Phase 2
39 Use of (-)-Epicatechin in the Treatment of Becker Muscular Dystrophy (Pilot Study) Recruiting NCT01856868 Phase 1, Phase 2
40 Task-oriented Upper Limb Training in MS Recruiting NCT02688231 Phase 2
41 An Open Label Study of LMI070 in Type 1 Spinal Muscular Atrophy (SMA) Active, not recruiting NCT02268552 Phase 1, Phase 2
42 A Study to Assess the Efficacy, Safety and Pharmacokinetics of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy (SMA) Active, not recruiting NCT01839656 Phase 2
43 A Study of Multiple Doses of Nusinersen (ISIS 396443) Delivered to Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy Active, not recruiting NCT02386553 Phase 2
44 A Study to Assess the Safety and Tolerability of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA). Active, not recruiting NCT02462759 Phase 2
45 A Study to Evaluate Long Term Safety, Tolerability, and Effectiveness of Olesoxime in Participants With Spinal Muscular Atrophy (SMA) Active, not recruiting NCT02628743 Phase 2
46 Autologous Bone Marrow-Derived Stem Cell Therapy for Motor Neuron Disease Active, not recruiting NCT03067857 Phase 1, Phase 2
47 Effect of Low-Dose Celecoxib on SMN2 in Patients With Spinal Muscular Atrophy Not yet recruiting NCT02876094 Phase 2
48 Postacute Sarcopenia: Supplementation With β-hydroxyMethylbutyrate After Resistance Training Not yet recruiting NCT02679742 Phase 2
49 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Type I Terminated NCT00439218 Phase 1, Phase 2
50 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Types II or III Terminated NCT00439569 Phase 1, Phase 2

Search NIH Clinical Center for Progressive Muscular Atrophy

Genetic Tests for Progressive Muscular Atrophy

Anatomical Context for Progressive Muscular Atrophy

MalaCards organs/tissues related to Progressive Muscular Atrophy:

39
Spinal Cord, Brain

Publications for Progressive Muscular Atrophy

Articles related to Progressive Muscular Atrophy:

(show top 50) (show all 89)
id Title Authors Year
1
Unilateral progressive muscular atrophy with fast symptoms progression. ( 26851691 )
2016
2
Association of IgM monoclonal gammopathy with progressive muscular atrophy and multifocal motor neuropathy: a case-control study. ( 25549972 )
2015
3
CSF cytokine profile distinguishes multifocal motor neuropathy from progressive muscular atrophy. ( 26280014 )
2015
4
The diagnostic dilemma of progressive muscular atrophy. ( 25703763 )
2015
5
Cytokine profiles in multifocal motor neuropathy and progressive muscular atrophy. ( 26298317 )
2015
6
Progressive Muscular Atrophy. ( 26515620 )
2015
7
Neuropsychological investigation in Chinese patients with progressive muscular atrophy. ( 26042930 )
2015
8
Progressive muscular atrophy: A patient with confirmatory postmortem findings. ( 25598220 )
2015
9
Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man. ( 25118551 )
2014
10
Prefrontal involvement related to cognitive impairment in progressive muscular atrophy. ( 25080518 )
2014
11
Differential motor neuron involvement in progressive muscular atrophy: a comparative study with amyotrophic lateral sclerosis. ( 24833696 )
2014
12
SMN1 gene duplications are more frequent in patients with progressive muscular atrophy. ( 23477310 )
2013
13
Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease. ( 22919202 )
2012
14
Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy. ( 22689196 )
2012
15
Cognitive dysfunction in lower motor neuron disease: executive and memory deficits in progressive muscular atrophy. ( 20562407 )
2011
16
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. ( 20530332 )
2010
17
Motor neuron disease: progressive muscular atrophy in the ALS spectrum. ( 20379201 )
2010
18
Progressive muscular atrophy and other lower motor neuron syndromes of adults. ( 20082312 )
2010
19
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. ( 20530331 )
2010
20
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. ( 19917992 )
2009
21
Interpretation of electrodiagnostic findings in sporadic progressive muscular atrophy. ( 18484238 )
2008
22
The history of progressive muscular atrophy: syndrome or disease? ( 18299524 )
2008
23
Clinical patterns in progressive muscular atrophy (PMA): a prospective study. ( 17852011 )
2007
24
Disease course and prognostic factors of progressive muscular atrophy. ( 17420313 )
2007
25
Anti-Ma2 associated paraneoplastic neurological syndrome presenting as encephalitis and progressive muscular atrophy. ( 16361608 )
2006
26
Absence of cognitive, behavioral, or emotional dysfunction in progressive muscular atrophy. ( 17101922 )
2006
27
Diffusion-tensor MR imaging of corticospinal tract in amyotrophic lateral sclerosis and progressive muscular atrophy. ( 16183935 )
2005
28
Myasthenia gravis with anti-MuSK antibody, showing progressive muscular atrophy without blepharoptosis. ( 16020904 )
2005
29
Proximal myotonic dystrophy mimicking progressive muscular atrophy. ( 15679706 )
2005
30
Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy exists: additional autopsy case with a clinical course of 19 years. ( 15484701 )
2004
31
Abrupt onset of progressive muscular atrophy. ( 15204026 )
2004
32
Corticospinal tract degeneration in the progressive muscular atrophy variant of ALS. ( 12707426 )
2003
33
Mitral valve surgery in a patient with spinal progressive muscular atrophy: report of a case. ( 14506997 )
2003
34
A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan. ( 12625412 )
2002
35
Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS). ( 10980308 )
2000
36
Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy: a clinicopathological study. ( 10202983 )
1999
37
Cortical function in progressive muscular atrophy and amyotrophic lateral sclerosis. ( 7807149 )
1994
38
Nemaline bodies in spinal progressive muscular atrophy. An autopsy case. ( 2821729 )
1987
39
A survival analysis of 155 cases of progressive muscular atrophy. ( 4082906 )
1985
40
Progressive muscular atrophy and posterior dislocation of the humerus following electric shock. ( 6709547 )
1984
41
Late progressive muscular atrophy and antecedent poliomyelitis. ( 6983825 )
1982
42
Adult GM2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotype. ( 7166018 )
1982
43
CSF viral antibodies. Evaluation in amyotrophic lateral sclerosis and late-onset postpoliomyelitis progressive muscular atrophy. ( 220938 )
1979
44
Hereditary myoclonus and progressive muscular atrophy: a new syndrome. ( 757033 )
1978
45
A modern method of the spectral analysis of the electromyogram in the spinal progressive muscular atrophy. ( 802629 )
1976
46
The case of the saltimbanque Prosper Lecomte. A contribution to the study of the history of progressive muscular atrophy (Aran-Duchenne) and amyotrophic lateral sclerosis (Charcot). ( 782762 )
1975
47
Werdnig-Hoffman's disease--infantile progressive muscular atrophy report of case. ( 1089112 )
1975
48
A case of spinal progressive muscular atrophy of lumbosacral leg thigh type. ( 5562105 )
1971
49
Two early infantile hereditary cases of progressive muscular atrophy simulating dystrophy, but on a neural basis. 1891. ( 4952838 )
1971
50
Electromyographic analysis in spinal progressive muscular atrophy, juvenile unilateral muscular atrophy, neural progressive muscular atrophy and myeloradiculoneuritis. ( 5984523 )
1966

Variations for Progressive Muscular Atrophy

Expression for Progressive Muscular Atrophy

Search GEO for disease gene expression data for Progressive Muscular Atrophy.

Pathways for Progressive Muscular Atrophy

GO Terms for Progressive Muscular Atrophy

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

id Name GO ID Score Top Affiliating Genes
1 Cajal body GO:0015030 9.37 SMN1 SMN2
2 cytoplasmic ribonucleoprotein granule GO:0036464 9.32 SMN1 SMN2
3 SMN-Sm protein complex GO:0034719 9.26 SMN1 SMN2
4 SMN complex GO:0032797 9.16 SMN1 SMN2
5 Z disc GO:0030018 9.13 CAV3 SMN1 SMN2
6 Gemini of coiled bodies GO:0097504 8.62 SMN1 SMN2

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

id Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.54 SMN1 SMN2 TARDBP
2 RNA splicing GO:0008380 9.5 SMN1 SMN2 TARDBP
3 actin filament organization GO:0007015 9.4 CAV3 TRPV4
4 spliceosomal snRNP assembly GO:0000387 9.26 SMN1 SMN2
5 spliceosomal complex assembly GO:0000245 9.16 SMN1 SMN2
6 nuclear import GO:0051170 8.96 SMN1 SMN2
7 DNA-templated transcription, termination GO:0006353 8.62 SMN1 SMN2

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.26 AIRE SMN1 SMN2 TARDBP
2 alpha-tubulin binding GO:0043014 8.62 CAV3 TRPV4

Sources for Progressive Muscular Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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