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SPSMA
MCID: SCP002
MIFTS: 55

Scapuloperoneal Spinal Muscular Atrophy (SPSMA)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Scapuloperoneal Spinal Muscular Atrophy

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MalaCards integrated aliases for Scapuloperoneal Spinal Muscular Atrophy:

Name: Scapuloperoneal Spinal Muscular Atrophy 57 12 20 58 72 36 29 13 6 15 17
Spsma 57 12 20 58 72
Amyotrophy, Neurogenic Scapuloperoneal, New England Type 57 20
Neurogenic Scapuloperoneal Amyotrophy, New England Type 12 58
Spinal Muscular Atrophy, Scapuloperoneal 57 29
Scapuloperoneal Neuronopathy 12 58
Amyotrophy Neurogenic Scapuloperoneal New England Type 72
Scapuloperoneal Form of Spinal Muscular Atrophy 70
Atrophy, Muscular, Spinal, Scapuloperoneal 39
Muscular Atrophy, Spinal 44

Characteristics:

Orphanet epidemiological data:

58
scapuloperoneal spinal muscular atrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
nonprogressive or slowly progressive
onset at birth or in infancy

Inheritance:
autosomal dominant


HPO:

31
scapuloperoneal spinal muscular atrophy:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance

spinal muscular atrophy, scapuloperoneal:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases


Sources

Summaries for Scapuloperoneal Spinal Muscular Atrophy

About this section
Disease Ontology : 12 A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has material basis in heterozygous mutation in TRPV4 on chromosome 12q24.11.

MalaCards based summary : Scapuloperoneal Spinal Muscular Atrophy, also known as spsma, is related to spinal muscular atrophy and muscular atrophy, and has symptoms including torticollis and facial paresis. An important gene associated with Scapuloperoneal Spinal Muscular Atrophy is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Development Endothelin-1/EDNRA signaling. The drugs Immunologic Factors and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and spinal cord, and related phenotypes are distal sensory impairment and scoliosis

KEGG : 36 Scapuloperoneal spinal muscular atrophy (SPSMA) is one of the TRPV4-related diseases. They are a heterogeneous group of dominantly inherited disorders with muscle weakness. Mutations in TRPV4 have been linked to these disorders.

UniProtKB/Swiss-Prot : 72 Scapuloperoneal spinal muscular atrophy: A clinically variable neuromuscular disorder characterized by neurogenic scapuloperoneal amyotrophy, laryngeal palsy, congenital absence of muscles, progressive scapuloperoneal atrophy and progressive distal weakness and amyotrophy.

More information from OMIM: 181405 271220
Sources

Related Diseases for Scapuloperoneal Spinal Muscular Atrophy

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

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 30.7 TRPV4 IGHMBP2 GARS1 BICD2
2 muscular atrophy 30.7 TRPV4 IGHMBP2 GARS1 BICD2
3 hereditary motor and sensory neuropathy, type iic 30.7 TRPV4 PACSIN3 GARS1
4 tooth disease 30.2 TRPV4 SCN9A IGHMBP2 GARS1
5 charcot-marie-tooth disease 29.7 TRPV4 SCN9A MIR4497 IGHMBP2 GARS1 BICD2
6 spinal muscular atrophy, type ii 11.6
7 spinal and bulbar muscular atrophy, x-linked 1 11.1
8 charcot-marie-tooth hereditary neuropathy 10.2 IGHMBP2 GARS1
9 neuronopathy, distal hereditary motor, type iib 10.2 IGHMBP2 GARS1
10 photoparoxysmal response 1 10.2 TRPV4 TRPV3
11 autosomal recessive distal hereditary motor neuronopathy 10.2 IGHMBP2 GARS1
12 facioscapulohumeral muscular dystrophy 1 10.2
13 spinal muscular atrophy, x-linked 2 10.2
14 neuronopathy, distal hereditary motor, type viii 10.2
15 scoliosis 10.2
16 dilated cardiomyopathy 10.2
17 sensory peripheral neuropathy 10.2
18 muscular dystrophy 10.2
19 autosomal dominant trpv4 disorders 10.2
20 congenital amyoplasia 10.2
21 spinal muscular atrophy, distal, autosomal recessive, 1 10.1 IGHMBP2 GARS1
22 hypervitaminosis d 10.1 TRPV6 TRPV5
23 mucolipidosis iv 10.1 TRPV6 TRPV4 TRPV3
24 spinal muscular atrophy, distal, autosomal recessive, 2 10.1 TRPV4 GARS1 BICD2
25 spinal muscular atrophy with lower extremity predominance 10.1 IGHMBP2 GARS1 BICD2
26 autosomal dominant distal hereditary motor neuronopathy 10.0 IGHMBP2 GARS1 BICD2
27 scapuloperoneal myopathy 10.0 UBE3B LHX5
28 distal hereditary motor neuronopathy type 2 10.0 IGHMBP2 GARS1
29 aromatase deficiency 10.0 TRPV6 TRPV5
30 diabetic neuropathy 10.0 TRPV4 TRPV3 SCN9A
31 parastremmatic dwarfism 10.0 TRPV4 TRPA1 PACSIN3
32 neuropathy, hereditary sensory and autonomic, type iia 9.9 TRPV4 SCN9A IGHMBP2
33 amyotrophic lateral sclerosis 1 9.9
34 autosomal recessive disease 9.9
35 lateral sclerosis 9.9
36 charcot-marie-tooth disease, axonal, type 2e 9.9 TRPV4 IGHMBP2 GARS1 BICD2
37 trigeminal nerve disease 9.9 TRPA1 SCN9A
38 dentin sensitivity 9.8 TRPV3 TRPV2 TRPA1
39 brown-vialetto-van laere syndrome 9.8 IGHMBP2 BICD2
40 trigeminal neuralgia 9.8 TRPA1 SCN9A
41 paroxysmal extreme pain disorder 9.8 TRPV4 TRPA1 SCN9A
42 motor peripheral neuropathy 9.8 TRPV4 PACSIN3 IGHMBP2 GARS1 BICD2
43 paine syndrome 9.8 TRPV4 TRPA1 SCN9A
44 erythromelalgia 9.8 TRPV3 TRPA1 SCN9A
45 metatropic dysplasia 9.8 TRPV6 TRPV5 TRPV4 TRPV3 PACSIN3
46 autonomic nervous system disease 9.7 TRPA1 SCN9A
47 spondylometaphyseal dysplasia, kozlowski type 9.7 TRPV6 TRPV4 SCN9A PACSIN3 MIR4497
48 facial dermatosis 9.7 TRPV4 TRPV3 TRPV2 TRPA1
49 neuropathy 9.7 TRPV4 SCN9A IGHMBP2 GARS1 BICD2
50 migraine with or without aura 1 9.6 TRPV4 TRPV3 TRPA1 SCN9A

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



Diseases related to Scapuloperoneal Spinal Muscular Atrophy
Sources

Symptoms & Phenotypes for Scapuloperoneal Spinal Muscular Atrophy

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Human phenotypes related to Scapuloperoneal Spinal Muscular Atrophy:

31 (show all 32)
# Description HPO Frequency HPO Source Accession
1 distal sensory impairment 31 occasional (7.5%) HP:0002936
2 scoliosis 31 HP:0002650
3 kyphosis 31 HP:0002808
4 facial palsy 31 HP:0010628
5 respiratory insufficiency 31 HP:0002093
6 hyperlordosis 31 HP:0003307
7 hip dysplasia 31 HP:0001385
8 metatarsus adductus 31 HP:0001840
9 scapular winging 31 HP:0003691
10 motor delay 31 HP:0001270
11 talipes equinovarus 31 HP:0001762
12 areflexia 31 HP:0001284
13 hoarse voice 31 HP:0001609
14 hyporeflexia 31 HP:0001265
15 small hand 31 HP:0200055
16 broad-based gait 31 HP:0002136
17 torticollis 31 HP:0000473
18 stridor 31 HP:0010307
19 diaphragmatic weakness 31 HP:0009113
20 clinodactyly 31 HP:0030084
21 abducens palsy 31 HP:0011349
22 motor polyneuropathy 31 HP:0007178
23 gowers sign 31 HP:0003391
24 muscle fiber splitting 31 HP:0003555
25 scapular muscle atrophy 31 HP:0009060
26 peroneal muscle atrophy 31 HP:0009049
27 progressive distal muscle weakness 31 HP:0009063
28 spinal muscular atrophy 31 HP:0007269
29 peroneal muscle weakness 31 HP:0011727
30 progressive distal muscular atrophy 31 HP:0008955
31 scapuloperoneal amyotrophy 31 HP:0003697
32 amyoplasia 31 HP:0003634

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis
hyperlordosis

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging
laterally placed scapulae

Head And Neck Neck:
torticollis
weak neck flexion

Skeletal Hands:
clinodactyly
small hands

Muscle Soft Tissue:
gowers sign
scapular muscle atrophy
peroneal muscle atrophy
peroneal muscle weakness
amyotrophy, neurogenic
more
Skeletal Feet:
metatarsus varus
club feet

Respiratory:
respiratory insufficiency in infancy
respiratory stridor in infancy

Chest External Features:
rounded shoulders due to muscle atrophy

Voice:
hoarse voice due to laryngeal palsy

Skeletal Pelvis:
hip dysplasia

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
peripheral motor neuropathy
decreased distal sensation (less common)

Chest Diaphragm:
diaphragmatic weakness

Head And Neck Eyes:
abducens palsy

Neurologic Central Nervous System:
delayed motor development
wide-based gait

Head And Neck Face:
facial weakness

Respiratory Larynx:
laryngeal palsy

Skeletal Limbs:
asymmetric limb length (less common)

Clinical features from OMIM®:

181405 271220 (Updated 05-Apr-2021)

UMLS symptoms related to Scapuloperoneal Spinal Muscular Atrophy:


torticollis; facial paresis

GenomeRNAi Phenotypes related to Scapuloperoneal Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 IGHMBP2 TRPV2 TRPV3 TRPV5 TRPV6
Sources

Drugs & Therapeutics for Scapuloperoneal Spinal Muscular Atrophy

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

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 4
2 Vaccines Phase 4
3
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
4
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
5
4-Aminopyridine Approved Phase 2, Phase 3 504-24-5 1727
6
Risdiplam Approved, Investigational Phase 2, Phase 3 1825352-65-5
7 Anticonvulsants Phase 3
8 Psychotropic Drugs Phase 3
9 Potassium Channel Blockers Phase 2, Phase 3
10
Levetiracetam Approved Phase 2 102767-28-2 441341
11
Testosterone Approved, Investigational Phase 2 58-22-0 6013
12
Leuprolide Approved, Investigational Phase 2 53714-56-0 3911 657181
13
Amifampridine Approved, Investigational Phase 2 54-96-6 5918
14
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
15 Hormones Phase 2
16 Nootropic Agents Phase 2
17 Neurotransmitter Agents Phase 2
18 carnitine Phase 2
19 Hormone Antagonists Phase 2
20 Antineoplastic Agents, Hormonal Phase 2
21 Androgens Phase 2
22 Pyridostigmine Bromide Phase 2 101-26-8
23 Cholinergic Agents Phase 2
24 Cholinesterase Inhibitors Phase 2
25 Bromides Phase 2
26 Pharmaceutical Solutions Phase 2
27 Immunoglobulins, Intravenous Phase 2
28 Antibodies Phase 2
29 Immunoglobulin G Phase 2
30 Immunoglobulins Phase 2
31 Antibodies, Monoclonal Phase 2
32 4-phenylbutyric acid Phase 1, Phase 2
33 Analgesics, Non-Narcotic Phase 2
34 Cyclooxygenase 2 Inhibitors Phase 2
35 Analgesics Phase 2
36 Cyclooxygenase Inhibitors Phase 2
37 Antirheumatic Agents Phase 2
38 Anti-Inflammatory Agents Phase 2
39 Anti-Inflammatory Agents, Non-Steroidal Phase 2
40
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
41
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
42
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
43
Itraconazole Approved, Investigational Phase 1 84625-61-6 55283
44
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
45 Anesthetics Phase 1
46 Hypnotics and Sedatives Phase 1
47 GABA Modulators Phase 1
48 Anesthetics, General Phase 1
49 Anesthetics, Intravenous Phase 1
50 Anti-Anxiety Agents Phase 1

Interventional clinical trials:

(show top 50) (show all 145)
# Name Status NCT ID Phase Drugs
1 Comparison of the Immunogenicity of Intramuscular Versus Subcutaneous Administration of Trivalent Inactivated Influenza Vaccine in Individuals With Neuromuscular Diseases Completed NCT01422200 Phase 4
2 A Phase 4 Study of Nusinersen (BIIB058) Among Patients With Spinal Muscular Atrophy Who Received Onasemnogene Abeparvovec Recruiting NCT04488133 Phase 4 Nusinersen
3 A Long-term Follow-up Study of Patients in the Clinical Trials for Spinal Muscular Atrophy Receiving AVXS-101 Enrolling by invitation NCT04042025 Phase 4
4 Randomized Placebo Controlled Trial of Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Aged 2-15 Years Unknown status NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
5 A Phase 3, Randomized, Double-blind, Sham-Procedure Controlled Study to Assess the Clinical Efficacy and Safety of ISIS 396443 Administered Intrathecally in Patients With Later-onset Spinal Muscular Atrophy Completed NCT02292537 Phase 3 Nusinersen
6 A Randomized, Double-Blind, Placebo-Controlled Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
7 Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion Completed NCT03461289 Phase 3
8 Columbia SMA Project: 4-AP as a Potential SMA Therapeutic Agent and Biological Mechanisms of Action Completed NCT01645787 Phase 2, Phase 3 4-aminopyridine;Placebo
9 Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion Completed NCT03306277 Phase 3
10 Escalating Dose and Randomized, Controlled Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Recruiting NCT04089566 Phase 2, Phase 3 Nusinersen
11 A Two Part Seamless, Open-label, Multicenter Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Infants With Type 1 Spinal Muscular Atrophy Active, not recruiting NCT02913482 Phase 2, Phase 3 Risdiplam
12 A Two Part Seamless, Multi-Center Randomized, Placebo-Controlled, Double-Blind Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of Risdiplam (RO7034067) in Type 2 and 3 Spinal Muscular Atrophy Patients Active, not recruiting NCT02908685 Phase 2, Phase 3 Placebo;Risdiplam
13 Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion Active, not recruiting NCT03837184 Phase 3
14 An Open-Label Extension Study for Patients With Spinal Muscular Atrophy Who Previously Participated in Investigational Studies of ISIS 396443 Active, not recruiting NCT02594124 Phase 3 nusinersen
15 A Global Study of a Single, One-Time Dose of AVXS-101 Delivered to Infants With Genetically Diagnosed and Pre-symptomatic Spinal Muscular Atrophy With Multiple Copies of SMN2 Active, not recruiting NCT03505099 Phase 3
16 A Long-Term Extension Study of Nusinersen (BIIB058) Administered at Higher Doses in Participants With Spinal Muscular Atrophy Who Previously Participated in an Investigational Study With Nusinersen Not yet recruiting NCT04729907 Phase 3 Nusinersen
17 A Phase 3, Randomized, Double-Blind, Sham-Procedure Controlled Study to Assess the Clinical Efficacy and Safety of ISIS 396443 Administered Intrathecally in Patients With Infantile-onset Spinal Muscular Atrophy Terminated NCT02193074 Phase 3 nusinersen
18 The Effectiveness of Allogeneic Adipose Derived Mesenchymal Stem Cells (ADMSCs) in the Phenotypic Changes of Werdnig Hoffman Patients Unknown status NCT02855112 Phase 1, Phase 2
19 Autologous Purified Bone-Marrow-Derived Stem Cell Therapy for Motor Neuron Disease Unknown status NCT03067857 Phase 1, Phase 2
20 Safety and Efficacy Study of Anti-cholinesterase Therapy on the Motor Functions in Patients With Spinal Muscular Atrophy Type 3. Unknown status NCT02227823 Phase 2 Pyridostigmine Bromide
21 A Randomized, Placebo-Controlled, Crossover Study to Evaluate the Safety and Efficacy of Amifampridine Phosphate in Ambulatory Patients With Spinal Muscular Atrophy (SMA) Type 3 Completed NCT03781479 Phase 2 Amifampridine Phosphate;Placebo Oral Tablet
22 A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients Completed NCT00568802 Phase 1, Phase 2 Hydroxyurea;Placebo to match hydroxyurea
23 A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients Completed NCT00568698 Phase 1, Phase 2 Hydroxyurea;Placebo to match hydroxyurea
24 Multicenter, Open-Label, Single-Arm Study to Evaluate Long-Term Safety, Tolerability, and Effectiveness of 10 mg/kg BID Olesoxime in Patients With Spinal Muscular Atrophy Completed NCT02628743 Phase 2 Olesoxime
25 Can Treatment With Human Growth Hormone Increase Strength in Spinal Muscular Atrophy Type II and III? Completed NCT00533221 Phase 2 somatotropin;Placebo
26 A Study to Assess the Efficacy, Safety, Tolerability, and Pharmacokinetics of Multiple Doses of ISIS 396443 Delivered Intrathecally to Patients With Infantile-Onset Spinal Muscular Atrophy Completed NCT01839656 Phase 2 nusinersen
27 A Pilot Trial of Levetiracetam for Cramps, Spasticity and Neuroprotection in Motor Neuron Disease Completed NCT00324454 Phase 2
28 Prospective Controlled Trial of Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy (VALIANTSMA) Study Completed NCT00481013 Phase 2 Valproic Acid (VPA);Placebo
29 Multi-center Phase II Trial of Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy (SMA CARNI-VAL Trial) Completed NCT00227266 Phase 2 Valproic Acid and Levocarnitine;Placebo
30 Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease Completed NCT00004771 Phase 2 leuprolide;testosterone
31 Phase I/II Trial of Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy Type I (CARNI-VAL Type I) Completed NCT00661453 Phase 1, Phase 2 Valproic Acid and Levocarnitine
32 Phase II, Multicenter, Randomized, Adaptive, Double-blind, Placebo Controlled Study to Assess Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Year Old Spinal Muscular Atrophy (SMA) Patients. Completed NCT01302600 Phase 2 Olesoxime;Placebo
33 A Phase II, Mono-center, Placebo-controlled, Double-blind, Crossover Trial to Investigate Effect and Efficacy of Pyridostigmine in Dutch Patients With Spinal Muscular Atrophy Types 2, 3 and 4 Completed NCT02941328 Phase 2 Pyridostigmine;Placebo
34 An Open-Label, Dose Escalation Study to Assess the Safety, Tolerability and Dose-Range Finding of Multiple Doses of ISIS 396443 Delivered Intrathecally to Patients With Spinal Muscular Atrophy Completed NCT01703988 Phase 1, Phase 2 Nusinersen
35 A Phase 2, Double-Blind, Randomized, Placebo-Controlled, Multiple Dose Study of CK-2127107 in Two Ascending Dose Cohorts of Patients With Spinal Muscular Atrophy Completed NCT02644668 Phase 2 Placebo;Reldesemtiv 150 mg;Reldesemtiv 450 mg
36 Effects of Power Mobility on the Development and Function of Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
37 Prospective Phase I/II Study to Evaluate Effects of Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy Completed NCT00528268 Phase 1, Phase 2 Sodium phenylbutyrate (NaPB)
38 An Open-Label Study of Risdiplam in Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy Recruiting NCT03779334 Phase 2 Risdiplam
39 An Open-Label Study to Assess the Efficacy, Safety, Tolerability, and Pharmacokinetics of Multiple Doses of ISIS 396443 Delivered Intrathecally to Subjects With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy. Active, not recruiting NCT02386553 Phase 2 Nusinersen
40 An Open Label Multi-part First-in-human Study of Oral LMI070 in Infants With Type 1 Spinal Muscular Atrophy Active, not recruiting NCT02268552 Phase 1, Phase 2 branaplam
41 An Open-Label Study to Investigate the Safety, Tolerability, and Pharmacokinetics/Pharmacodynamics of Risdiplam (RO7034067) in Adult and Pediatric Patients With Spinal Muscular Atrophy Active, not recruiting NCT03032172 Phase 2 Risdiplam
42 Phase 2 Active Treatment Study to Evaluate the Efficacy and Safety of SRK-015 in Patients With Later-Onset Spinal Muscular Atrophy (TOPAZ) Active, not recruiting NCT03921528 Phase 2
43 Long Term Safety Study of Amifampridine Phosphate in Ambulatory Patients With Spinal Muscular Atrophy (SMA) Type 3 Enrolling by invitation NCT03819660 Phase 2 Amifampridine Phosphate 10 MG Oral Tablet
44 Phase I/IIa Clinical Trial of Sodium Phenylbutyrate in Pediatric Subjects With Type I Spinal Muscular Atrophy Terminated NCT00439218 Phase 1, Phase 2 sodium phenylbutyrate
45 Phase I/IIa Clinical Trial of Sodium Phenylbutyrate in Pediatric Subjects With Type II/III Spinal Muscular Atrophy Terminated NCT00439569 Phase 1, Phase 2 sodium phenylbutyrate
46 A Phase 2, Randomized, Double-blind, Sham-procedure Controlled Study to Assess the Safety and Tolerability and Explore the Efficacy of ISIS 396443 (BIIB058) Administered Intrathecally in Subjects With Spinal Muscular Atrophy Who Are Not Eligible to Participate in the Clinical Studies ISIS 396443-CS3B or ISIS 396443-CS4 Terminated NCT02462759 Phase 2 Nusinersen
47 A Pilot, Open-Label, Dose Response Study Investigating the Effect of Low-Dose Celecoxib on SMN2 in Patients With Spinal Muscular Atrophy (SMA) Terminated NCT02876094 Phase 2 celecoxib
48 An Open-Label, Single-Dose, Parallel-Group, Two-Part Study to Evaluate the Pharmacokinetics and Safety of Risdiplam in Subjects With Mild or Moderate Hepatic Impairment Compared to Subjects With Normal Hepatic Function Completed NCT03920865 Phase 1 Risdiplam
49 An Open-label, Escalating Dose Study to Assess the Safety, Tolerability and Dose-range Finding of a Single Intrathecal Dose of ISIS 396443 in Patients With Spinal Muscular Atrophy Completed NCT01494701 Phase 1 nusinersen
50 In Vivo Study of Safety, Tolerability and Dosing Effect on SMN mRNA and Protein Levels of Valproic Acid in Patients With Spinal Muscular Atrophy Completed NCT00374075 Phase 1 Valproic Acid

Search NIH Clinical Center for Scapuloperoneal Spinal Muscular Atrophy

Cochrane evidence based reviews: muscular atrophy, spinal

Sources

Genetic Tests for Scapuloperoneal Spinal Muscular Atrophy

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Genetic tests related to Scapuloperoneal Spinal Muscular Atrophy:

# Genetic test Affiliating Genes
1 Scapuloperoneal Spinal Muscular Atrophy 29 TRPV4
2 Spinal Muscular Atrophy, Scapuloperoneal 29
Sources

Anatomical Context for Scapuloperoneal Spinal Muscular Atrophy

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MalaCards organs/tissues related to Scapuloperoneal Spinal Muscular Atrophy:

40
Bone, Bone Marrow, Spinal Cord, Prostate
Sources

Publications for Scapuloperoneal Spinal Muscular Atrophy

About this section

Articles related to Scapuloperoneal Spinal Muscular Atrophy:

(show all 29)
# Title Authors PMID Year
1
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. 6 57 61
20037587 2010
2
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation. 6 57
21336783 2011
3
A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features. 6 57
1520078 1992
4
Channelopathies converge on TRPV4. 61 6
20104247 2010
5
Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. 57 61
8872481 1996
6
Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder. 6
22065612 2011
7
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. 6
21115951 2010
8
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. 6
20037586 2010
9
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. 6
20037588 2010
10
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. 57
18179901 2008
11
Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. 6
15668982 2005
12
Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy. 57
8619529 1996
13
Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. 6
8179305 1994
14
Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2. 61
31468327 2020
15
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature. 61
26948711 2016
16
Phenotypic variability of TRPV4 related neuropathies. 61
25900305 2015
17
TRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)Pâ‚‚. 61
25256292 2014
18
Autosomal Dominant TRPV4 Disorders 61
24830047 2014
19
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. 61
24789864 2014
20
Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. 61
22851605 2012
21
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. 61
22419508 2012
22
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? 61
21964829 2011
23
Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2. 61
21327736 2011
24
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. 61
20460441 2010
25
Human dendritic cells genetically engineered to express cytosolically retained fragment of prostate-specific membrane antigen prime cytotoxic T-cell responses to multiple epitopes. 61
14712317 2003
26
The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. 61
12682323 2003
27
Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24. 61
9781046 1998
28
Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation. 61
9187660 1997
29
Mitochondrial cardiomyopathy and scapuloperoneal spinal muscular atrophy in a child. 61
7693085 1993
Sources

Variations for Scapuloperoneal Spinal Muscular Atrophy

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ClinVar genetic disease variations for Scapuloperoneal Spinal Muscular Atrophy:

6 (show top 50) (show all 115)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPV4 NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) SNV Pathogenic 5001 rs267607145 GRCh37: 12:110236625-110236625
GRCh38: 12:109798820-109798820
2 TRPV4 NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys) SNV Pathogenic 5002 rs267607146 GRCh37: 12:110238471-110238471
GRCh38: 12:109800666-109800666
3 TRPV4 NM_021625.4(TRPV4):c.806G>A (p.Arg269His) SNV Pathogenic 5000 rs267607144 GRCh37: 12:110238470-110238470
GRCh38: 12:109800665-109800665
4 TRPV4 NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) SNV Likely pathogenic 4999 rs267607143 GRCh37: 12:110236628-110236628
GRCh38: 12:109798823-109798823
5 TRPV4 NM_021625.4(TRPV4):c.1796C>G (p.Thr599Arg) SNV Uncertain significance 307127 rs769225216 GRCh37: 12:110230485-110230485
GRCh38: 12:109792680-109792680
6 TRPV4 NM_021625.4(TRPV4):c.569C>T (p.Thr190Met) SNV Uncertain significance 424209 rs1031096826 GRCh37: 12:110240939-110240939
GRCh38: 12:109803134-109803134
7 TRPV4 NM_021625.4(TRPV4):c.2560G>A (p.Asp854Asn) SNV Uncertain significance 246571 rs368963822 GRCh37: 12:110221482-110221482
GRCh38: 12:109783677-109783677
8 TRPV4 NM_021625.4(TRPV4):c.37G>T (p.Gly13Trp) SNV Uncertain significance 245716 rs763302555 GRCh37: 12:110252565-110252565
GRCh38: 12:109814760-109814760
9 TRPV4 NM_021625.4(TRPV4):c.1038C>T (p.Tyr346=) SNV Uncertain significance 386671 rs750086412 GRCh37: 12:110236533-110236533
GRCh38: 12:109798728-109798728
10 TRPV4 NM_021625.4(TRPV4):c.427C>A (p.Pro143Thr) SNV Uncertain significance 307142 rs201642486 GRCh37: 12:110246233-110246233
GRCh38: 12:109808428-109808428
11 TRPV4 NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala) SNV Uncertain significance 448711 rs146304351 GRCh37: 12:110246137-110246137
GRCh38: 12:109808332-109808332
12 TRPV4 NM_021625.4(TRPV4):c.2425G>A (p.Gly809Ser) SNV Uncertain significance 448709 rs375851168 GRCh37: 12:110222154-110222154
GRCh38: 12:109784349-109784349
13 TRPV4 NM_021625.4(TRPV4):c.651G>A (p.Ala217=) SNV Uncertain significance 517843 rs371280831 GRCh37: 12:110240857-110240857
GRCh38: 12:109803052-109803052
14 TRPV4 NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys) SNV Uncertain significance 881173 GRCh37: 12:110238534-110238534
GRCh38: 12:109800729-109800729
15 TRPV4 NM_021625.4(TRPV4):c.622G>A (p.Asp208Asn) SNV Uncertain significance 307139 rs769445973 GRCh37: 12:110240886-110240886
GRCh38: 12:109803081-109803081
16 TRPV4 NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn) SNV Uncertain significance 575960 rs770149544 GRCh37: 12:110252418-110252418
GRCh38: 12:109814613-109814613
17 TRPV4 NM_021625.4(TRPV4):c.*212G>A SNV Uncertain significance 307118 rs886048938 GRCh37: 12:110221214-110221214
GRCh38: 12:109783409-109783409
18 TRPV4 NM_021625.4(TRPV4):c.*99C>T SNV Uncertain significance 307119 rs552478250 GRCh37: 12:110221327-110221327
GRCh38: 12:109783522-109783522
19 TRPV4 NM_021625.4(TRPV4):c.171T>C (p.Pro57=) SNV Uncertain significance 307144 rs886048941 GRCh37: 12:110252431-110252431
GRCh38: 12:109814626-109814626
20 TRPV4 NM_021625.4(TRPV4):c.2236C>G (p.Arg746Gly) SNV Uncertain significance 307123 rs375189134 GRCh37: 12:110224615-110224615
GRCh38: 12:109786810-109786810
21 TRPV4 NM_021625.4(TRPV4):c.*51G>A SNV Uncertain significance 307120 rs886048939 GRCh37: 12:110221375-110221375
GRCh38: 12:109783570-109783570
22 TRPV4 NM_021625.4(TRPV4):c.1352C>T (p.Ala451Val) SNV Uncertain significance 307131 rs886048940 GRCh37: 12:110232273-110232273
GRCh38: 12:109794468-109794468
23 TRPV4 NM_021625.4(TRPV4):c.*405G>A SNV Uncertain significance 307114 rs886048937 GRCh37: 12:110221021-110221021
GRCh38: 12:109783216-109783216
24 TRPV4 NM_021625.4(TRPV4):c.1601T>C (p.Met534Thr) SNV Uncertain significance 307128 rs775011025 GRCh37: 12:110231389-110231389
GRCh38: 12:109793584-109793584
25 TRPV4 NM_021625.5(TRPV4):c.2258G>A (p.Arg753Lys) SNV Uncertain significance 880695 GRCh37: 12:110224593-110224593
GRCh38: 12:109786788-109786788
26 TRPV4 NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg) SNV Uncertain significance 881272 GRCh37: 12:110246158-110246158
GRCh38: 12:109808353-109808353
27 TRPV4 NM_021625.5(TRPV4):c.*145C>T SNV Uncertain significance 881445 GRCh37: 12:110221281-110221281
GRCh38: 12:109783476-109783476
28 TRPV4 NM_021625.5(TRPV4):c.797C>T (p.Ala266Val) SNV Uncertain significance 881124 GRCh37: 12:110238479-110238479
GRCh38: 12:109800674-109800674
29 TRPV4 NM_021625.5(TRPV4):c.*411A>G SNV Uncertain significance 881335 GRCh37: 12:110221015-110221015
GRCh38: 12:109783210-109783210
30 TRPV4 NM_021625.5(TRPV4):c.195A>G (p.Pro65=) SNV Uncertain significance 881336 GRCh37: 12:110252407-110252407
GRCh38: 12:109814602-109814602
31 TRPV4 NM_021625.5(TRPV4):c.*227A>G SNV Uncertain significance 881830 GRCh37: 12:110221199-110221199
GRCh38: 12:109783394-109783394
32 TRPV4 NM_021625.5(TRPV4):c.*83C>G SNV Uncertain significance 881446 GRCh37: 12:110221343-110221343
GRCh38: 12:109783538-109783538
33 MIR4497 , TRPV4 NM_021625.4(TRPV4):c.-74G>A SNV Uncertain significance 307145 rs886048942 GRCh37: 12:110271197-110271197
GRCh38: 12:109833392-109833392
34 TRPV4 NM_021625.4(TRPV4):c.1376T>G (p.Leu459Arg) SNV Uncertain significance 521109 rs201132615 GRCh37: 12:110232249-110232249
GRCh38: 12:109794444-109794444
35 TRPV4 NM_021625.5(TRPV4):c.*500C>T SNV Uncertain significance 881730 GRCh37: 12:110220926-110220926
GRCh38: 12:109783121-109783121
36 MIR4497 , TRPV4 NM_021625.5(TRPV4):c.-59C>T SNV Uncertain significance 882983 GRCh37: 12:110271182-110271182
GRCh38: 12:109833377-109833377
37 TRPV4 NM_021625.5(TRPV4):c.*2G>A SNV Uncertain significance 883056 GRCh37: 12:110221424-110221424
GRCh38: 12:109783619-109783619
38 TRPV4 NM_021625.5(TRPV4):c.2433G>A (p.Ser811=) SNV Uncertain significance 882031 GRCh37: 12:110222146-110222146
GRCh38: 12:109784341-109784341
39 TRPV4 , MIR4497 NC_000012.12:g.109833410C>A SNV Uncertain significance 881447 GRCh37: 12:110271215-110271215
GRCh38: 12:109833410-109833410
40 TRPV4 NM_021625.4(TRPV4):c.2162C>G (p.Thr721Arg) SNV Uncertain significance 567260 rs1423138633 GRCh37: 12:110226251-110226251
GRCh38: 12:109788446-109788446
41 TRPV4 NM_021625.5(TRPV4):c.812G>A (p.Arg271His) SNV Uncertain significance 882712 GRCh37: 12:110238464-110238464
GRCh38: 12:109800659-109800659
42 TRPV4 NM_021625.5(TRPV4):c.*421G>A SNV Uncertain significance 881334 GRCh37: 12:110221005-110221005
GRCh38: 12:109783200-109783200
43 TRPV4 NM_021625.5(TRPV4):c.*303G>A SNV Uncertain significance 881386 GRCh37: 12:110221123-110221123
GRCh38: 12:109783318-109783318
44 TRPV4 NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) SNV Uncertain significance 409288 rs779715512 GRCh37: 12:110226437-110226437
GRCh38: 12:109788632-109788632
45 TRPV4 NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu) SNV Uncertain significance 881731 GRCh37: 12:110246235-110246235
GRCh38: 12:109808430-109808430
46 TRPV4 NM_021625.4(TRPV4):c.1700A>T (p.Tyr567Phe) SNV Likely benign 521669 rs763889344 GRCh37: 12:110230581-110230581
GRCh38: 12:109792776-109792776
47 TRPV4 NM_021625.4(TRPV4):c.2484C>T (p.Arg828=) SNV Likely benign 307122 rs142656819 GRCh37: 12:110221558-110221558
GRCh38: 12:109783753-109783753
48 TRPV4 NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) SNV Likely benign 469047 rs142902080 GRCh37: 12:110236613-110236613
GRCh38: 12:109798808-109798808
49 TRPV4 NM_021625.4(TRPV4):c.205A>C (p.Met69Leu) SNV Likely benign 307143 rs200199102 GRCh37: 12:110252397-110252397
GRCh38: 12:109814592-109814592
50 TRPV4 NM_021625.4(TRPV4):c.2320C>T (p.Arg774Cys) SNV Likely benign 536854 rs145102919 GRCh37: 12:110224531-110224531
GRCh38: 12:109786726-109786726

UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Spinal Muscular Atrophy:

72
# Symbol AA change Variation ID SNP ID
1 TRPV4 p.Arg316Cys VAR_063530 rs267607145

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Expression for Scapuloperoneal Spinal Muscular Atrophy

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Search GEO for disease gene expression data for Scapuloperoneal Spinal Muscular Atrophy.
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Pathways for Scapuloperoneal Spinal Muscular Atrophy

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Pathways related to Scapuloperoneal Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 65
Show member pathways
 12.86 TRPV6 TRPV5 TRPV4 TRPV3 TRPV2 TRPA1
2
Development Endothelin-1/EDNRA signaling 23
Show member pathways
 12.04 TRPV4 TRPV3 TRPV2 TRPA1
3
Ion channel transport 65
Show member pathways
 11.93 TRPV6 TRPV5 TRPV4 TRPV3 TRPV2 TRPA1
4
TRP channels 65
10.5 TRPV6 TRPV5 TRPV4 TRPV3 TRPV2 TRPA1
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GO Terms for Scapuloperoneal Spinal Muscular Atrophy

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

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.26 TRPV2 SCN9A IGHMBP2 GARS1
2 integral component of plasma membrane GO:0005887 9.17 TRPV6 TRPV5 TRPV4 TRPV3 TRPV2 TRPA1
3 calcium channel complex GO:0034704 9.16 TRPV6 TRPV5

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 TRPV6 TRPV5 TRPV4 TRPV3 TRPV2 TRPA1
2 transmembrane transport GO:0055085 9.87 TRPV6 TRPV5 TRPV4 TRPV3 TRPV2 TRPA1
3 ion transmembrane transport GO:0034220 9.73 TRPV6 TRPV5 TRPV4 TRPV3 TRPA1 SCN9A
4 calcium ion transport GO:0006816 9.63 TRPV6 TRPV5 TRPV4 TRPV3 TRPV2 TRPA1
5 calcium ion homeostasis GO:0055074 9.46 TRPV6 TRPV5
6 positive regulation of calcium ion import GO:0090280 9.43 TRPV3 TRPV2
7 calcium ion transmembrane transport GO:0070588 9.43 TRPV6 TRPV5 TRPV4 TRPV3 TRPV2 TRPA1
8 response to temperature stimulus GO:0009266 9.4 TRPV3 TRPV2
9 calcium ion import across plasma membrane GO:0098703 9.02 TRPV6 TRPV5 TRPV4 TRPV3 TRPV2

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.73 TRPV6 TRPV4 TRPA1 PACSIN3 IGHMBP2 GARS1
2 calmodulin binding GO:0005516 9.5 TRPV6 TRPV5 TRPV4
3 cation channel activity GO:0005261 9.46 TRPV4 TRPV3 TRPV2 SCN9A
4 calcium channel activity GO:0005262 9.43 TRPV6 TRPV5 TRPV4 TRPV3 TRPV2 TRPA1
5 ion channel activity GO:0005216 9.17 TRPV6 TRPV5 TRPV4 TRPV3 TRPV2 TRPA1
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Sources for Scapuloperoneal Spinal Muscular Atrophy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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