PMA
MCID: PRG001
MIFTS: 41

Progressive Muscular Atrophy (PMA)

Categories: Bone diseases, Muscle diseases, Neuronal diseases, Rare 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
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 Acetaminophen and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and lung, 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 104)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, type i 31.9 SMN1 SMN2
2 spinal muscular atrophy 31.7 SMN1 SMN2 TRPV4
3 motor neuron disease 31.4 C9orf72 SMN1 SMN2 TARDBP
4 muscular atrophy 31.2 SMN1 SMN2 TRPV4
5 amyotrophic lateral sclerosis 1 29.6 C9orf72 LMNB1 SMN1 SMN2 TARDBP
6 adult progressive spinal muscular atrophy aran duchenne type 12.3
7 spinal atrophy ophthalmoplegia pyramidal syndrome 11.6
8 neuronopathy, distal hereditary motor, type viii 11.0
9 myopathy, distal, tateyama type 11.0
10 lateral sclerosis 10.4
11 poliomyelitis 10.2
12 leukemia 10.1
13 breast cancer 10.1
14 pelger-huet anomaly 10.1
15 spinal muscular atrophy, type iv 10.1 SMN1 SMN2
16 survival motor neuron spinal muscular atrophy 10.1 SMN1 SMN2
17 arthrogryposis multiplex congenita, neurogenic type 10.1 SMN1 SMN2
18 spinal muscular atrophy, type iii 10.1 SMN1 SMN2
19 spinal muscular atrophy, type ii 10.1 SMN1 SMN2
20 culler-jones syndrome 10.1 SMN1 SMN2
21 multifocal motor neuropathy 10.1
22 neuropathy 10.1
23 juvenile spinal muscular atrophy 10.1 SMN1 SMN2
24 spinal muscular atrophy, distal, autosomal recessive, 1 10.1 SMN1 SMN2
25 spinal disease 10.1 SMN1 SMN2
26 proximal spinal muscular atrophy 10.1 SMN1 SMN2
27 lymphoma 10.0
28 legionnaires' disease 10.0
29 muscular dystrophy 10.0
30 neuromuscular disease 10.0 SMN1 SMN2 TRPV4
31 muscle tissue disease 10.0 CAV3 SMN1 SMN2
32 ataxia-telangiectasia 10.0
33 3-methylglutaconic aciduria, type iii 10.0
34 adrenoleukodystrophy 10.0
35 mcleod syndrome 10.0
36 microcephaly 10.0
37 viral encephalitis 10.0
38 neonatal adrenoleukodystrophy 10.0
39 o'sullivan-mcleod syndrome 10.0
40 gastric cancer 10.0
41 obstructive nephropathy 10.0
42 adenocarcinoma 10.0
43 monocytic leukemia 10.0
44 glioblastoma 10.0
45 glioma 10.0
46 amyotrophic lateral sclerosis 18 9.9 C9orf72 TARDBP
47 semantic dementia 9.9 C9orf72 TARDBP
48 amyotrophic lateral sclerosis 21 9.9 C9orf72 TARDBP
49 brown-vialetto-van laere syndrome 9.9 C9orf72 TARDBP
50 peripheral nervous system disease 9.9 SMN1 SMN2

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 9.55 CAV3 LMNB1 SMN2 TARDBP TRPV4
2 nervous system MP:0003631 9.43 AIRE C9orf72 LMNB1 SMN2 TARDBP TRPV4
3 no phenotypic analysis MP:0003012 8.92 AIRE C9orf72 SMN2 TARDBP

Drugs & Therapeutics for Progressive Muscular Atrophy

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

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2 Analgesics Phase 4,Phase 2
3 Antipyretics Phase 4
4 Analgesics, Non-Narcotic Phase 4,Phase 2
5 Peripheral Nervous System Agents Phase 4,Phase 2
6
Valproic Acid Approved, Investigational Phase 3,Phase 2,Phase 1 99-66-1 3121
7
Hydroxyurea Approved Phase 2, Phase 3,Phase 1 127-07-1 3657
8
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
9
4-Aminopyridine Approved Phase 2, Phase 3 504-24-5 1727
10 Neurotransmitter Agents Phase 3,Phase 2,Phase 1
11 Central Nervous System Depressants Phase 3,Phase 2,Phase 1
12 Tranquilizing Agents Phase 3,Phase 2,Phase 1
13 Anticonvulsants Phase 3,Phase 2,Phase 1
14 GABA Agents Phase 3,Phase 2,Phase 1
15 Antimanic Agents Phase 3,Phase 2,Phase 1
16 Psychotropic Drugs Phase 3,Phase 2,Phase 1
17 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
18 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3,Phase 1
19 Protective Agents Phase 2, Phase 3
20 Excitatory Amino Acids Phase 2, Phase 3
21 Excitatory Amino Acid Antagonists Phase 2, Phase 3
22 Neuroprotective Agents Phase 2, Phase 3
23 Potassium Channel Blockers Phase 2, Phase 3
24 Piracetam Approved, Investigational Phase 2 7491-74-9
25
Leuprolide Approved, Investigational Phase 2 53714-56-0 657181 3911
26
Testosterone Approved, Investigational Phase 2 58-22-0 6013
27
Methyltestosterone Approved Phase 2 58-18-4 6010
28
Testosterone undecanoate Approved, Investigational Phase 2 5949-44-0
29
Testosterone enanthate Approved Phase 2 315-37-7 9416
30
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
31 Etiracetam Investigational Phase 2 33996-58-6
32 Pyridostigmine Bromide Phase 2 101-26-8
33 Cholinergic Agents Phase 2
34 Bromides Phase 2
35 Cholinesterase Inhibitors Phase 2
36 Antirheumatic Agents Phase 2
37 Interleukin 1 Receptor Antagonist Protein Phase 2
38 carnitine Phase 2,Phase 1
39 4-phenylbutyric acid Phase 1, Phase 2,Phase 2
40 Hormones Phase 2,Phase 1
41 Nootropic Agents Phase 2
42 Testosterone 17 beta-cypionate Phase 2
43 Androgens Phase 2
44 Hormone Antagonists Phase 2,Phase 1
45 Antineoplastic Agents, Hormonal Phase 2
46 Anabolic Agents Phase 2
47 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
48 Fertility Agents Phase 2
49 Anti-Inflammatory Agents, Non-Steroidal Phase 2
50 Anti-Inflammatory Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 116)
# Name Status NCT ID Phase Drugs
1 Paracetamol Study in Patients With Low Muscle Mass Not yet recruiting NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
2 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Unknown status NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
3 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
4 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
5 Short and Long Term Treatment With 4-AP in Ambulatory SMA Patients Completed NCT01645787 Phase 2, Phase 3 4-aminopyridine;Placebo
6 Study to Evaluate the Efficacy of Riluzole in Children and Young Adults With Spinal Muscular Atrophy (SMA) Completed NCT00774423 Phase 2, Phase 3 Riluzole
7 Pre-Symptomatic Study of Intravenous AVXS-101 in Spinal Muscular Atrophy (SMA) for Patients With Multiple Copies of SMN2 Recruiting NCT03505099 Phase 3
8 Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 Recruiting NCT03461289 Phase 3
9 Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 Active, not recruiting NCT03306277 Phase 3
10 Investigate Safety, Tolerability, PK, PD and Efficacy of Risdiplam (RO7034067) in Infants With Type1 Spinal Muscular Atrophy Active, not recruiting NCT02913482 Phase 2, Phase 3 Risdiplam
11 A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of Risdiplam (RO7034067) in Type 2 and 3 Spinal Muscular Atrophy (SMA) Participants Active, not recruiting NCT02908685 Phase 2, Phase 3 Placebo;Risdiplam
12 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
13 A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy Terminated NCT02193074 Phase 3 nusinersen
14 Safety and Efficacy Study of Pyridostigmine on Patients With Spinal Muscular Atrophy Type 3 Unknown status NCT02227823 Phase 2 Pyridostigmine Bromide
15 A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients Unknown status NCT00568802 Phase 1, Phase 2 Hydroxyurea
16 Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman Patients Unknown status NCT02855112 Phase 1, Phase 2
17 Safety and Tolerability of Anakinra in Combination With Riluzol in Amyotrophic Lateral Sclerosis Unknown status NCT01277315 Phase 2 Anakinra
18 Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy Completed NCT00227266 Phase 2 Valproic Acid and Levocarnitine;Placebo
19 Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy Completed NCT00481013 Phase 2 Valproic Acid (VPA);Placebo
20 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
21 Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy Completed NCT00528268 Phase 1, Phase 2 Sodium phenylbutyrate (NaPB)
22 A Study of CK-2127107 in Patients With Spinal Muscular Atrophy Completed NCT02644668 Phase 2 CK-2127107 150 mg;Placebo;CK-2127107 450 mg
23 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
24 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
25 A Study to Assess the Safety and Tolerability of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA). Completed NCT02462759 Phase 2 Nusinersen
26 A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients Completed NCT00568698 Phase 1, Phase 2 Hydroxyurea
27 SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4 Completed NCT02941328 Phase 2 Pyridostigmine;Placebo
28 Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Years SMA Patients. Completed NCT01302600 Phase 2 Olesoxime;Placebo
29 Pilot Study of Growth Hormon to Treat SMA Typ II and III Completed NCT00533221 Phase 2 somatotropin;Placebo
30 Levetiracetam for Cramps, Spasticity and Neuroprotection in Motor Neuron Disease Completed NCT00324454 Phase 2
31 Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease Completed NCT00004771 Phase 2 leuprolide;testosterone
32 Effects of Power Mobility on Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
33 An Open Label Study of LMI070 (Branaplam) in Type 1 Spinal Muscular Atrophy (SMA) Recruiting NCT02268552 Phase 1, Phase 2 branaplam
34 A Study of Risdiplam (RO7034067) in Adult and Pediatric Participants With Spinal Muscular Atrophy Recruiting NCT03032172 Phase 2 Risdiplam
35 Controlled Trial to Evaluate Amifampridine Phosphate in Spinal Muscular Atrophy Type 3 Patients Recruiting NCT03781479 Phase 2 Amifampridine Phosphate;Placebo Oral Tablet
36 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
37 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
38 Autologous Bone Marrow-Derived Stem Cell Therapy for Motor Neuron Disease Active, not recruiting NCT03067857 Phase 1, Phase 2
39 Effect of Low-Dose Celecoxib on SMN2 in Patients With Spinal Muscular Atrophy Not yet recruiting NCT02876094 Phase 2 celecoxib
40 A Study of Risdiplam in Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy Not yet recruiting NCT03779334 Phase 2 Risdiplam
41 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Type I Terminated NCT00439218 Phase 1, Phase 2 sodium phenylbutyrate
42 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Types II or III Terminated NCT00439569 Phase 1, Phase 2 sodium phenylbutyrate
43 A Study to Assess FLX-787 in Subjects With Motor Neuron Disease Experiencing Muscle Cramps. Terminated NCT03196375 Phase 2 FLX-787-ODT (orally disintegrating tablet);Placebo ODT
44 Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1 Completed NCT02122952 Phase 1
45 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
46 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
47 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
48 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
49 A Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Risdiplam (RO7034067) Given by Mouth in Healthy Volunteers Completed NCT02633709 Phase 1 Itraconazole;Risdiplam
50 Study of Intrathecal Administration of AVXS-101 for Spinal Muscular Atrophy Recruiting NCT03381729 Phase 1

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
Bone, Spinal Cord, Lung, Prostate, B Cells, Myeloid, Monocytes

Publications for Progressive Muscular Atrophy

Articles related to Progressive Muscular Atrophy:

(show top 50) (show all 126)
# 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
Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy. ( 30511354 )
2018
3
Use of sugammadex in a patient with progressive muscular atrophy and in a patient with amyotrophic lateral sclerosis: Case report. ( 28591053 )
2017
4
Unilateral progressive muscular atrophy with fast symptoms progression. ( 26851691 )
2016
5
Progressive Muscular Atrophy. ( 26515620 )
2015
6
The diagnostic dilemma of progressive muscular atrophy. ( 25703763 )
2015
7
Cytokine profiles in multifocal motor neuropathy and progressive muscular atrophy. ( 26298317 )
2015
8
CSF cytokine profile distinguishes multifocal motor neuropathy from progressive muscular atrophy. ( 26280014 )
2015
9
Neuropsychological investigation in Chinese patients with progressive muscular atrophy. ( 26042930 )
2015
10
Association of IgM monoclonal gammopathy with progressive muscular atrophy and multifocal motor neuropathy: a case-control study. ( 25549972 )
2015
11
Progressive muscular atrophy: A patient with confirmatory postmortem findings. ( 25598220 )
2015
12
Differential motor neuron involvement in progressive muscular atrophy: a comparative study with amyotrophic lateral sclerosis. ( 24833696 )
2014
13
Prefrontal involvement related to cognitive impairment in progressive muscular atrophy. ( 25080518 )
2014
14
Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man. ( 25118551 )
2014
15
SMN1 gene duplications are more frequent in patients with progressive muscular atrophy. ( 23477310 )
2013
16
Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy. ( 22689196 )
2012
17
Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease. ( 22919202 )
2012
18
Cognitive dysfunction in lower motor neuron disease: executive and memory deficits in progressive muscular atrophy. ( 20562407 )
2011
19
Motor neuron disease: progressive muscular atrophy in the ALS spectrum. ( 20379201 )
2010
20
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. ( 20530332 )
2010
21
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. ( 20530331 )
2010
22
Progressive muscular atrophy and other lower motor neuron syndromes of adults. ( 20082312 )
2010
23
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. ( 19917992 )
2009
24
The history of progressive muscular atrophy: syndrome or disease? ( 18299524 )
2008
25
Interpretation of electrodiagnostic findings in sporadic progressive muscular atrophy. ( 18484238 )
2008
26
Clinical patterns in progressive muscular atrophy (PMA): a prospective study. ( 17852011 )
2007
27
Disease course and prognostic factors of progressive muscular atrophy. ( 17420313 )
2007
28
Anti-Ma2 associated paraneoplastic neurological syndrome presenting as encephalitis and progressive muscular atrophy. ( 16361608 )
2006
29
Absence of cognitive, behavioral, or emotional dysfunction in progressive muscular atrophy. ( 17101922 )
2006
30
Diffusion-tensor MR imaging of corticospinal tract in amyotrophic lateral sclerosis and progressive muscular atrophy. ( 16183935 )
2005
31
Proximal myotonic dystrophy mimicking progressive muscular atrophy. ( 15679706 )
2005
32
Myasthenia gravis with anti-MuSK antibody, showing progressive muscular atrophy without blepharoptosis. ( 16020904 )
2005
33
Rapidly progressive spinal muscular atrophy in an ambulatory 2-year-old male. ( 15993324 )
2005
34
Finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation in patients with progressive spinal muscular atrophy. ( 16417857 )
2005
35
Abrupt onset of progressive muscular atrophy. ( 15204026 )
2004
36
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
37
Mitral valve surgery in a patient with spinal progressive muscular atrophy: report of a case. ( 14506997 )
2003
38
Corticospinal tract degeneration in the progressive muscular atrophy variant of ALS. ( 12707426 )
2003
39
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
40
Mimic syndromes in sporadic cases of progressive spinal muscular atrophy. ( 12058084 )
2002
41
Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS). ( 10980308 )
2000
42
Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy: a clinicopathological study. ( 10202983 )
1999
43
Cortical function in progressive muscular atrophy and amyotrophic lateral sclerosis. ( 7807149 )
1994
44
Infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms. ( 8068160 )
1994
45
Nemaline bodies in spinal progressive muscular atrophy. An autopsy case. ( 2821729 )
1987
46
Cerebral distribution of beta-lipotropin and beta-endorphin in infantile progressive spinal muscular atrophy of Werdnig and Hoffman disease. ( 2957764 )
1987
47
A survival analysis of 155 cases of progressive muscular atrophy. ( 4082906 )
1985
48
Progressive muscular atrophy and posterior dislocation of the humerus following electric shock. ( 6709547 )
1984
49
Adult-onset rapidly progressive spinal muscular atrophy of shoulder girdle with gammopathy. ( 6627777 )
1983
50
Adult GM2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotype. ( 7166018 )
1982

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
3 CAPN3 NM_000070.2(CAPN3): c.1746-20C> G single nucleotide variant Conflicting interpretations of pathogenicity rs201892814 GRCh37 Chromosome 15, 42695919: 42695919
4 CAPN3 NM_000070.2(CAPN3): c.1746-20C> G single nucleotide variant Conflicting interpretations of pathogenicity rs201892814 GRCh38 Chromosome 15, 42403721: 42403721

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 neuron projection GO:0043005 9.61 C9orf72 SMN1 SMN2
3 Cajal body GO:0015030 9.46 SMN1 SMN2
4 Z disc GO:0030018 9.43 CAV3 SMN1 SMN2
5 cytoplasmic ribonucleoprotein granule GO:0036464 9.4 SMN1 SMN2
6 perikaryon GO:0043204 9.33 C9orf72 SMN1 SMN2
7 SMN-Sm protein complex GO:0034719 9.32 SMN1 SMN2
8 Gemini of coiled bodies GO:0097504 8.96 SMN1 SMN2
9 SMN complex GO:0032797 8.62 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 snRNP assembly GO:0000387 9.26 SMN1 SMN2
5 spliceosomal complex assembly GO:0000245 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 protein binding GO:0005515 9.86 AIRE C9orf72 CAV3 LMNB1 SMN1 SMN2
2 alpha-tubulin binding GO:0043014 9.16 CAV3 TRPV4
3 identical protein binding GO:0042802 9.02 AIRE SMN1 SMN2 TARDBP TRPV4
4 sequence-specific double-stranded DNA binding GO:1990837 8.96 LMNB1 TARDBP

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
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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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