MCID: PRG001
MIFTS: 41

Progressive Muscular Atrophy

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

Aliases & Classifications for Progressive Muscular Atrophy

MalaCards integrated aliases for Progressive Muscular Atrophy:

Name: Progressive Muscular Atrophy 12 59 55 15 73
Progressive Spinal Muscular Atrophy 12 76 6
Pure Progressive Muscular Atrophy 12
Pma 59

Characteristics:

Orphanet epidemiological data:

59
progressive muscular atrophy
Inheritance: Not applicable; Age of onset: Adult; Age of death: adult,elderly;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:318
ICD10 33 G12.21
ICD9CM 35 335.21
MeSH 44 D009134
NCIt 50 C85027
SNOMED-CT 68 88923002
Orphanet 59 ORPHA454706
UMLS via Orphanet 74 C0917981
ICD10 via Orphanet 34 G12.2
UMLS 73 C0917981

Summaries for Progressive Muscular Atrophy

MalaCards based summary : Progressive Muscular Atrophy, also known as progressive spinal muscular atrophy, is related to spinal muscular atrophy, type i and spinal muscular atrophy. An important gene associated with Progressive Muscular Atrophy is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). The drugs Valproic Acid and Hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include testes, spinal cord and bone, and related phenotypes are muscle and nervous system

Wikipedia : 76 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 51)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, type i 31.8 SMN1 SMN2
2 spinal muscular atrophy 31.6 SMN1 SMN2 TRPV4
3 muscular atrophy 30.3 CAV3 SMN1 SMN2 TRPV4
4 motor neuron disease 30.1 C9orf72 SMN1 SMN2 TARDBP
5 amyotrophic lateral sclerosis 1 27.4 C9orf72 LMNB1 SMN1 SMN2 TARDBP
6 adult progressive spinal muscular atrophy aran duchenne type 12.2
7 neuronopathy, distal hereditary motor, type viii 10.8
8 myopathy, distal, tateyama type 10.8
9 juvenile spinal muscular atrophy 10.3 SMN1 SMN2
10 spinal muscular atrophy, type iv 10.3 SMN1 SMN2
11 survival motor neuron spinal muscular atrophy 10.3 SMN1 SMN2
12 spinal muscular atrophy, type iii 10.3 SMN1 SMN2
13 spinal muscular atrophy, type ii 10.3 SMN1 SMN2
14 spinal disease 10.3 SMN1 SMN2
15 lateral sclerosis 10.2
16 proximal spinal muscular atrophy 10.2 SMN1 SMN2
17 poliomyelitis 10.1
18 neuronitis 10.1
19 multifocal motor neuropathy 10.0
20 neuropathy 10.0
21 neuromuscular disease 9.9 SMN1 SMN2 TRPV4
22 peripheral nervous system disease 9.9 SMN1 SMN2
23 muscle tissue disease 9.9 CAV3 SMN1 SMN2
24 muscular dystrophy 9.9
25 amyotrophic lateral sclerosis 18 9.7 C9orf72 TARDBP
26 porphyria, acute intermittent 9.7
27 amyotonia congenita 9.7
28 myasthenia gravis 9.7
29 charcot-marie-tooth disease 9.7
30 hypogonadotropic hypogonadism 9.7
31 tooth disease 9.7
32 porphyria 9.7
33 candidiasis 9.7
34 encephalitis 9.7
35 myotonic dystrophy 9.7
36 myasthenia gravis congenital 9.7
37 myotonia atrophica 9.7
38 myoclonus 9.7
39 semantic dementia 9.7 C9orf72 TARDBP
40 amyotrophic lateral sclerosis 21 9.6 C9orf72 TARDBP
41 brown-vialetto-van laere syndrome 9.6 C9orf72 TARDBP
42 nominal aphasia 9.6 C9orf72 TARDBP
43 perry syndrome 9.6 C9orf72 TARDBP
44 basal ganglia disease 9.5 C9orf72 TARDBP
45 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.4 C9orf72 TARDBP
46 spinocerebellar ataxia 31 9.4 LMNB1 TARDBP
47 anterior horn cell disease 9.4 SMN1 SMN2 TARDBP
48 supranuclear palsy, progressive, 1 9.2 C9orf72 TARDBP
49 speech and communication disorders 9.0 C9orf72 TARDBP
50 central nervous system disease 8.8 C9orf72 SMN1 SMN2 TARDBP

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.35 TARDBP TRPV4 CAV3 LMNB1 SMN2
2 nervous system MP:0003631 9.1 TARDBP TRPV4 AIRE C9orf72 LMNB1 SMN2

Drugs & Therapeutics for Progressive Muscular Atrophy

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

(show top 50) (show all 64)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic Acid Approved, Investigational Phase 3,Phase 2,Phase 1 99-66-1 3121
2
Hydroxyurea Approved Phase 2, Phase 3,Phase 1 127-07-1 3657
3
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
4
4-Aminopyridine Approved Phase 2, Phase 3 504-24-5 1727
5 Anticonvulsants Phase 3,Phase 2,Phase 1
6 Antimanic Agents Phase 3,Phase 2,Phase 1
7 Central Nervous System Depressants Phase 3,Phase 2,Phase 1
8 GABA Agents Phase 3,Phase 2,Phase 1
9 Neurotransmitter Agents Phase 3,Phase 2,Phase 1
10 Psychotropic Drugs Phase 3,Phase 2,Phase 1
11 Tranquilizing Agents Phase 3,Phase 2,Phase 1
12 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3,Phase 1
13 Excitatory Amino Acid Antagonists Phase 2, Phase 3
14 Excitatory Amino Acids Phase 2, Phase 3
15 Neuroprotective Agents Phase 2, Phase 3
16 Protective Agents Phase 2, Phase 3
17 Potassium Channel Blockers Phase 2, Phase 3
18 Piracetam Approved, Investigational Phase 2 7491-74-9
19
Leuprolide Approved, Investigational Phase 2 53714-56-0 3911 657181
20
Methyltestosterone Approved Phase 2 58-18-4 6010
21
Testosterone Approved, Investigational Phase 2 58-22-0 6013
22
Testosterone enanthate Approved Phase 2 315-37-7 9416
23
Testosterone undecanoate Approved, Investigational Phase 2 5949-44-0
24
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
25 Etiracetam Investigational Phase 2 33996-58-6
26 Bromides Phase 2
27 Cholinergic Agents Phase 2
28 Cholinesterase Inhibitors Phase 2
29 Pyridostigmine Bromide Phase 2 101-26-8
30 Antirheumatic Agents Phase 2
31 Interleukin 1 Receptor Antagonist Protein Phase 2
32 Pharmaceutical Solutions Phase 2,Phase 1
33 4-phenylbutyric acid Phase 1, Phase 2,Phase 2
34 Hormones Phase 2,Phase 1
35 Nootropic Agents Phase 2
36 Anabolic Agents Phase 2
37 Androgens Phase 2
38 Antineoplastic Agents, Hormonal Phase 2
39 Fertility Agents Phase 2
40 Hormone Antagonists Phase 2,Phase 1
41 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
42 Testosterone 17 beta-cypionate Phase 2
43 Analgesics Phase 2
44 Analgesics, Non-Narcotic Phase 2
45 Anti-Inflammatory Agents Phase 2
46 Anti-Inflammatory Agents, Non-Steroidal Phase 2
47 Cyclooxygenase 2 Inhibitors Phase 2
48 Cyclooxygenase Inhibitors Phase 2
49 Peripheral Nervous System Agents Phase 2
50 carnitine Nutraceutical Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 107)
# Name Status NCT ID Phase Drugs
1 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Unknown status NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
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 Nusinersen
3 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
4 Short and Long Term Treatment With 4-AP in Ambulatory SMA Patients Completed NCT01645787 Phase 2, Phase 3 4-aminopyridine;Placebo
5 Study to Evaluate the Efficacy of Riluzole in Children and Young Adults With Spinal Muscular Atrophy (SMA) Completed NCT00774423 Phase 2, Phase 3 Riluzole
6 Pre-Symptomatic Study of Intravenous AVXS-101 in Spinal Muscular Atrophy (SMA) for Patients With Multiple Copies of SMN2 Recruiting NCT03505099 Phase 3
7 Investigate Safety, Tolerability, PK, PD and Efficacy of RO7034067 in Infants With Type1 Spinal Muscular Atrophy Recruiting NCT02913482 Phase 2, Phase 3 RO7034067
8 A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Type 2 and 3 Spinal Muscular Atrophy (SMA) Participants Recruiting NCT02908685 Phase 2, Phase 3 Placebo;RO7034067
9 Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 Active, not recruiting NCT03306277 Phase 3
10 A Study for Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in Nusinersen (ISIS 396443) Investigational Studies. Enrolling by invitation NCT02594124 Phase 3 nusinersen
11 Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 Not yet recruiting NCT03461289 Phase 3
12 A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy Terminated NCT02193074 Phase 3 nusinersen
13 Safety and Efficacy Study of Pyridostigmine on Patients With Spinal Muscular Atrophy Type 3 Unknown status NCT02227823 Phase 2 Pyridostigmine Bromide
14 A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients Unknown status NCT00568802 Phase 1, Phase 2 Hydroxyurea
15 Safety and Tolerability of Anakinra in Combination With Riluzol in Amyotrophic Lateral Sclerosis Unknown status NCT01277315 Phase 2 Anakinra
16 Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy Completed NCT00227266 Phase 2 Valproic Acid and Levocarnitine;Placebo
17 Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy Completed NCT00481013 Phase 2 Valproic Acid (VPA);Placebo
18 CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type I Completed NCT00661453 Phase 1, Phase 2 Valproic Acid and Levocarnitine
19 Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy Completed NCT00528268 Phase 1, Phase 2 Sodium phenylbutyrate (NaPB)
20 A Study to Assess the Efficacy, Safety and Pharmacokinetics of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy (SMA) Completed NCT01839656 Phase 2 nusinersen
21 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 Nusinersen
22 A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients Completed NCT00568698 Phase 1, Phase 2 Hydroxyurea
23 SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4 Completed NCT02941328 Phase 2 Pyridostigmine;Placebo
24 Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Years SMA Patients. Completed NCT01302600 Phase 2 Olesoxime;Placebo
25 Pilot Study of Growth Hormon to Treat SMA Typ II and III Completed NCT00533221 Phase 2 somatotropin;Placebo
26 Levetiracetam for Cramps, Spasticity and Neuroprotection in Motor Neuron Disease Completed NCT00324454 Phase 2
27 Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease Completed NCT00004771 Phase 2 leuprolide;testosterone
28 Effects of Power Mobility on Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
29 An Open Label Study of LMI070 (Branaplam) in Type 1 Spinal Muscular Atrophy (SMA) Recruiting NCT02268552 Phase 1, Phase 2 branaplam
30 A Study of RO7034067 in Adult and Pediatric Participants With Spinal Muscular Atrophy Recruiting NCT03032172 Phase 2 RO7034067
31 Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman Patients Recruiting NCT02855112 Phase 1, Phase 2
32 A Study of CK-2127107 in Patients With Spinal Muscular Atrophy Active, not recruiting NCT02644668 Phase 2 CK-2127107 150 mg;Placebo;CK-2127107 450 mg
33 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 Nusinersen
34 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 Nusinersen
35 A Study to Evaluate Long Term Safety, Tolerability, and Effectiveness of Olesoxime in Patients With Spinal Muscular Atrophy (SMA) Active, not recruiting NCT02628743 Phase 2 Olesoxime
36 A Study to Assess FLX-787 in Subjects With Motor Neuron Disease Experiencing Muscle Cramps. Active, not recruiting NCT03196375 Phase 2 FLX-787-ODT (orally disintegrating tablet);Placebo ODT
37 Autologous Bone Marrow-Derived Stem Cell Therapy for Motor Neuron Disease Active, not recruiting NCT03067857 Phase 1, Phase 2
38 Effect of Low-Dose Celecoxib on SMN2 in Patients With Spinal Muscular Atrophy Not yet recruiting NCT02876094 Phase 2 celecoxib
39 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Type I Terminated NCT00439218 Phase 1, Phase 2 sodium phenylbutyrate
40 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Types II or III Terminated NCT00439569 Phase 1, Phase 2 sodium phenylbutyrate
41 Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1 Completed NCT02122952 Phase 1
42 An Open-label Safety, Tolerability, and Dose-range Finding Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA) Completed NCT01494701 Phase 1 nusinersen
43 An Open-label Safety and Tolerability Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy Who Previously Participated in ISIS 396443-CS1 (NCT01494701) Completed NCT01780246 Phase 1 nusinersen
44 An Open-label Safety and Tolerability Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in ISIS 396443-CS2 (NCT01703988) or ISIS 396443-CS10 (NCT01780246) Completed NCT02052791 Phase 1 nusinersen
45 Study of Safety and Dosing Effect on SMN Levels of Valproic Acid (VPA) in Patients With Spinal Muscular Atrophy Completed NCT00374075 Phase 1 Valproic Acid
46 A Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of RO7034067 (RG7916) Given by Mouth in Healthy Volunteers Completed NCT02633709 Phase 1 Itraconazole;RO7034067
47 Study of Intrathecal Administration of AVXS-101 for Spinal Muscular Atrophy Recruiting NCT03381729 Phase 1
48 A Study of RO6885247 in Adult and Pediatric Patients With Spinal Muscular Atrophy (MOONFISH) Terminated NCT02240355 Phase 1 RO6885247;placebo
49 Mechanisms of Cell Death in Spinal Muscular Atrophy Unknown status NCT01754441
50 Motor Development and Orthoses in Spinal Muscular Atrophy (SMA) Unknown status NCT00961103

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:

41
Testes, Spinal Cord, Bone, Brain

Publications for Progressive Muscular Atrophy

Articles related to Progressive Muscular Atrophy:

(show top 50) (show all 91)
# Title Authors Year
1
A blended psychosocial support program for partners of patients with amyotrophic lateral sclerosis and progressive muscular atrophy: protocol of a randomized controlled trial. ( 29716660 )
2018
2
Use of sugammadex in a patient with progressive muscular atrophy and in a patient with amyotrophic lateral sclerosis: Case report. ( 28591053 )
2017
3
Unilateral progressive muscular atrophy with fast symptoms progression. ( 26851691 )
2016
4
Progressive Muscular Atrophy. ( 26515620 )
2015
5
The diagnostic dilemma of progressive muscular atrophy. ( 25703763 )
2015
6
Cytokine profiles in multifocal motor neuropathy and progressive muscular atrophy. ( 26298317 )
2015
7
CSF cytokine profile distinguishes multifocal motor neuropathy from progressive muscular atrophy. ( 26280014 )
2015
8
Neuropsychological investigation in Chinese patients with progressive muscular atrophy. ( 26042930 )
2015
9
Association of IgM monoclonal gammopathy with progressive muscular atrophy and multifocal motor neuropathy: a case-control study. ( 25549972 )
2015
10
Progressive muscular atrophy: A patient with confirmatory postmortem findings. ( 25598220 )
2015
11
Differential motor neuron involvement in progressive muscular atrophy: a comparative study with amyotrophic lateral sclerosis. ( 24833696 )
2014
12
Prefrontal involvement related to cognitive impairment in progressive muscular atrophy. ( 25080518 )
2014
13
Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man. ( 25118551 )
2014
14
SMN1 gene duplications are more frequent in patients with progressive muscular atrophy. ( 23477310 )
2013
15
Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy. ( 22689196 )
2012
16
Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease. ( 22919202 )
2012
17
Cognitive dysfunction in lower motor neuron disease: executive and memory deficits in progressive muscular atrophy. ( 20562407 )
2011
18
Motor neuron disease: progressive muscular atrophy in the ALS spectrum. ( 20379201 )
2010
19
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. ( 20530332 )
2010
20
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. ( 20530331 )
2010
21
Progressive muscular atrophy and other lower motor neuron syndromes of adults. ( 20082312 )
2010
22
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. ( 19917992 )
2009
23
The history of progressive muscular atrophy: syndrome or disease? ( 18299524 )
2008
24
Interpretation of electrodiagnostic findings in sporadic progressive muscular atrophy. ( 18484238 )
2008
25
Clinical patterns in progressive muscular atrophy (PMA): a prospective study. ( 17852011 )
2007
26
Disease course and prognostic factors of progressive muscular atrophy. ( 17420313 )
2007
27
Anti-Ma2 associated paraneoplastic neurological syndrome presenting as encephalitis and progressive muscular atrophy. ( 16361608 )
2006
28
Absence of cognitive, behavioral, or emotional dysfunction in progressive muscular atrophy. ( 17101922 )
2006
29
Diffusion-tensor MR imaging of corticospinal tract in amyotrophic lateral sclerosis and progressive muscular atrophy. ( 16183935 )
2005
30
Proximal myotonic dystrophy mimicking progressive muscular atrophy. ( 15679706 )
2005
31
Myasthenia gravis with anti-MuSK antibody, showing progressive muscular atrophy without blepharoptosis. ( 16020904 )
2005
32
Abrupt onset of progressive muscular atrophy. ( 15204026 )
2004
33
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
34
Mitral valve surgery in a patient with spinal progressive muscular atrophy: report of a case. ( 14506997 )
2003
35
Corticospinal tract degeneration in the progressive muscular atrophy variant of ALS. ( 12707426 )
2003
36
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
37
Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS). ( 10980308 )
2000
38
Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy: a clinicopathological study. ( 10202983 )
1999
39
Cortical function in progressive muscular atrophy and amyotrophic lateral sclerosis. ( 7807149 )
1994
40
Nemaline bodies in spinal progressive muscular atrophy. An autopsy case. ( 2821729 )
1987
41
A survival analysis of 155 cases of progressive muscular atrophy. ( 4082906 )
1985
42
Progressive muscular atrophy and posterior dislocation of the humerus following electric shock. ( 6709547 )
1984
43
Adult GM2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotype. ( 7166018 )
1982
44
Late progressive muscular atrophy and antecedent poliomyelitis. ( 6983825 )
1982
45
CSF viral antibodies. Evaluation in amyotrophic lateral sclerosis and late-onset postpoliomyelitis progressive muscular atrophy. ( 220938 )
1979
46
Hereditary myoclonus and progressive muscular atrophy: a new syndrome. ( 757033 )
1978
47
A modern method of the spectral analysis of the electromyogram in the spinal progressive muscular atrophy. ( 802629 )
1976
48
Werdnig-Hoffman's disease--infantile progressive muscular atrophy report of case. ( 1089112 )
1975
49
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
50
A case of spinal progressive muscular atrophy of lumbosacral leg thigh type. ( 5562105 )
1971

Variations for Progressive Muscular Atrophy

ClinVar genetic disease variations for Progressive Muscular Atrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CAPN3; SGCB NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh37 Chromosome 15, 42680002: 42680002
2 CAPN3; SGCB NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh38 Chromosome 15, 42387804: 42387804

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:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.67 C9orf72 SMN1 SMN2 TRPV4
2 cytoplasmic ribonucleoprotein granule GO:0036464 9.43 SMN1 SMN2
3 Cajal body GO:0015030 9.4 SMN1 SMN2
4 Z disc GO:0030018 9.33 CAV3 SMN1 SMN2
5 SMN-Sm protein complex GO:0034719 9.32 SMN1 SMN2
6 SMN complex GO:0032797 9.26 SMN1 SMN2
7 Gemini of coiled bodies GO:0097504 8.96 SMN1 SMN2
8 perikaryon GO:0043204 8.8 C9orf72 SMN1 SMN2

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

# 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 negative regulation of protein phosphorylation GO:0001933 9.4 C9orf72 TARDBP
4 spliceosomal complex assembly GO:0000245 9.26 SMN1 SMN2
5 spliceosomal snRNP assembly GO:0000387 9.16 SMN1 SMN2
6 import into nucleus 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:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 AIRE SMN1 SMN2 TARDBP TRPV4
2 alpha-tubulin binding GO:0043014 8.96 CAV3 TRPV4

Sources for Progressive Muscular Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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