SMA
MCID: SPN046
MIFTS: 62

Spinal Muscular Atrophy (SMA)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Spinal Muscular Atrophy

MalaCards integrated aliases for Spinal Muscular Atrophy:

Name: Spinal Muscular Atrophy 12 73 25 20 43 53 36 29 6 42 15 37 17 70
Sma 20 43
Hereditary Motor Neuronopathy 70
Progressive Muscular Atrophy 70
Spinal Muscle Degeneration 43
Atrophy, Muscular, Spinal 39
Muscular Atrophy Spinal 54
Spinal Muscle Wasting 43
Spinal Amyotrophies 43
Sma-Associated Sma 43
Spinal Amyotrophy 43
Proximal Sma 43
5q Sma 43

Classifications:



External Ids:

Disease Ontology 12 DOID:12377
KEGG 36 H00455
ICD9CM 34 335.1
MeSH 44 D009134
NCIt 50 C85075
SNOMED-CT 67 5262007
ICD10 32 G12.9
UMLS 70 C0026847 C0917981 C3661519

Summaries for Spinal Muscular Atrophy

MedlinePlus Genetics : 43 Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting (atrophy) in muscles used for movement (skeletal muscles). It is caused by a loss of specialized nerve cells, called motor neurons that control muscle movement. The weakness tends to be more severe in the muscles that are close to the center of the body (proximal) compared to muscles away from the body's center (distal). The muscle weakness usually worsens with age. There are many types of spinal muscular atrophy that are caused by changes in the same genes. The types differ in age of onset and severity of muscle weakness; however, there is overlap between the types. Other forms of spinal muscular atrophy and related motor neuron diseases, such as spinal muscular atrophy with progressive myoclonic epilepsy, spinal muscular atrophy with lower extremity predominance, X-linked infantile spinal muscular atrophy, and spinal muscular atrophy with respiratory distress type 1 are caused by mutations in other genes.Spinal muscular atrophy type 0 is evident before birth and is the rarest and most severe form of the condition. Affected infants move less in the womb, and as a result they are often born with joint deformities (contractures). They have extremely weak muscle tone (hypotonia) at birth. Their respiratory muscles are very weak and they often do not survive past infancy due to respiratory failure. Some infants with spinal muscular atrophy type 0 also have heart defects that are present from birth (congenital).Spinal muscular atrophy type I (also called Werdnig-Hoffmann disease) is the most common form of the condition. It is a severe form of the disorder with muscle weakness evident at birth or within the first few months of life. Most affected children cannot control their head movements or sit unassisted. Children with this type may have swallowing problems that can lead to difficulty feeding and poor growth. They can also have breathing problems due to weakness of respiratory muscles and an abnormally bell-shaped chest that prevents the lungs from fully expanding. Most children with spinal muscular atrophy type I do not survive past early childhood due to respiratory failure.Spinal muscular atrophy type II (also called Dubowitz disease) is characterized by muscle weakness that develops in children between ages 6 and 12 months. Children with this type can sit without support, although they may need help getting to a seated position. However, as the muscle weakness worsens later in childhood, affected individuals may need support to sit. Individuals with spinal muscular atrophy type II cannot stand or walk unaided. They often have involuntary trembling (tremors) in their fingers, a spine that curves side-to-side (scoliosis), and respiratory muscle weakness that can be life-threatening. The life span of individuals with spinal muscular atrophy type II varies, but many people with this condition live into their twenties or thirties.Spinal muscular atrophy type III (also called Kugelberg-Welander disease) typically causes muscle weakness after early childhood. Individuals with this condition can stand and walk unaided, but over time, walking and climbing stairs may become increasingly difficult. Many affected individuals require wheelchair assistance later in life. People with spinal muscular atrophy type III typically have a normal life expectancy.Spinal muscular atrophy type IV is rare and often begins in early adulthood. Affected individuals usually experience mild to moderate muscle weakness, tremors, and mild breathing problems. People with spinal muscular atrophy type IV have a normal life expectancy.

MalaCards based summary : Spinal Muscular Atrophy, also known as sma, is related to spinal muscular atrophy, x-linked 2 and spinal muscular atrophy, distal, autosomal recessive, 1, and has symptoms including seizures, tremor and back pain. An important gene associated with Spinal Muscular Atrophy is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways/superpathways are RNA transport and COPI-independent Golgi-to-ER retrograde traffic. The drugs Acetaminophen and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and skeletal muscle, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.

GARD : 20 Spinal muscular atrophy (SMA) is a group of genetic neuromuscular disorders that affect the nerve cells that control voluntary muscles (motor neurons). The loss of motor neurons causes progressive muscle weakness and loss of movement due to muscle wasting (atrophy). The severity of the symptoms, the age at which symptoms, begin, and genetic cause varies by type. Many types of SMA mainly affect the muscles involved in walking, sitting, arm movement, and head control. Breathing and swallowing may also become difficult as the disease progresses in many types of SMA. In some types of SMA, the loss of motor neurons makes it hard to control movement of the hands and feet. SMA type 1, 2, 3, and 4 are caused by changes (pathogenic variants, also know as mutations ) in the SMN1 gene and are inherited in an autosomal recessive manner. Extra copies of the nearby related gene, SMN2, modify the severity of SMA. There are other rarer types of SMA caused by changes in different genes. Other autosomal recessive forms include SMA with progressive myoclonic epilepsy (SMA-PME) caused by changes in the ASAH1 gene and SMA with respiratory distress 1 (SMARD1) caused by changes in the IGHMBP2 gene. Autosomal dominant forms include distal MSA type V (DSMA-V) caused by changes in BSCL2 and GARS, SMA with lower extremity predominance (SMA-LED) caused by changes in DYNC1H1 or BICD2, and adult-onset form of SMA caused changes by VAPB. X-linked forms include X-linked infantile SMA caused by changes in UBA1. Diagnosis of SMA is suspected by symptoms and confirmed by genetic testing. Treatments are in general supportive aiming to increase quality of life and avoid complications. Treatments may include physical therapy, nutrition support, chest physiotherapy, and, in severe cases, breathing machines ( ventilators ). In December 2016, nusinersen (Spinraza) became the first FDA approved treatment for SMA types 1, 2, 3, and 4. Continued treatment with nusinersen has been shown to slow the progression of the disease and even improve muscle function, but individual response to the treatment does vary. Due to the success of nusinersen as well as other promising treatments presently in clinical trials, SMA caused by changes in the SMN1 gene has been added to the list of recommended newborn screening tests in the United States, so that treatment may begin before symptoms develop. However, as of July 2018, not all States have added the test to their newborn screening panel.

MedlinePlus : 42 Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord. These cells communicate with your voluntary muscles - the ones you can control, like in your arms and legs. As the neurons die, the muscles weaken. This can affect walking, crawling, breathing, swallowing, and head and neck control. SMA runs in families. Parents usually have no symptoms, but still carry the gene. Genetic counseling is important if the disease runs in your family. There are many types of SMA. Some of them are fatal. Some people have a normal life expectancy. It depends on the type and how it affects breathing. There is no cure. Treatments help with symptoms and prevent complications. They may include machines to help with breathing, nutritional support, physical therapy, and medicines. NIH: National Institute of Neurological Disorders and Stroke

NINDS : 53 Spinal Muscular Atrophy refers to a group of hereditary diseases that damages and kills specialized nerve cells in the brain and spinal cord (called motor neurons). Motor neurons control movement in the arms, legs, face, chest, throat, and tongue, as well as skeletal muscle activity including speaking, walking, swallowing, and breathing. The most common form of SMA is caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. This form of SMA has four types: Type l, also called Werdnig-Hoffman disease or infantile-onset SMA, is usually evident before 6 months of age. The most severely affected children will have reduced movement and chronic shortening of muscles or tendons (called contractures). Other children may have symptoms including reduced muscle tone, lack of tendon reflexes, twitching, skeletal abnormalities, and problems swallowing and feeding. Without treatment, many affected children die before age 2 years. SMA Type ll is usually first noticed between the 6 and 18 months of age. Children can sit without support but are unable to stand or walk unaided. Children also may have respiratory difficulties. Life expectancy is reduced but most individuals live into adolescence or young adulthood. SMA Type lll (Kugelberg-Welander disease) is seen after age 18 months. Children can walk independently but may have difficulty walking or running, rising from a chair, or climbing stairs. Other complications may include curvature of the spine, contractures, and respiratory infections. With treatment, most individuals can have a normal lfespan. Individuals with SMA Type IV develop symptoms after age 21 years, with mild to moderate leg muscle weakness and other symptoms.

KEGG : 36 Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscle atrophy and paralysis. The most common form of SMA is caused by mutations of the SMN gene, that encodes the SMN protein, which regulates snRNP assembly. Four types of SMA are recognized depending on the age of onset and the severity of the disease: type I (Werdning-Hoffman), type II (intermediate), type III (Kugeleberg-Welander) and type IV (adult form). Other forms of spinal muscular atrophy are caused by mutation of other genes, some known and others not yet defined.

Wikipedia : 73 Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons... more...

GeneReviews: NBK1352

Related Diseases for Spinal Muscular Atrophy

Diseases in the Spinal Muscular Atrophy family:

Spinal Muscular Atrophy, Type I Spinal Muscular Atrophy, Type Iii
Spinal Muscular Atrophy, Type Ii Spinal Muscular Atrophy, Type Iv
Spinal Muscular Atrophy Type 0 Congenital Benign Spinal Muscular Atrophy Dominant

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

(show top 50) (show all 659)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, x-linked 2 34.0 UBA1 SMN2 SMN1 IGHMBP2
2 spinal muscular atrophy, distal, autosomal recessive, 1 34.0 SMN2 SMN1 IGHMBP2
3 spinal muscular atrophy, type ii 34.0 SMN2 SMN1 NAIP IGHMBP2 BICD2
4 spinal muscular atrophy, type iv 33.9 SMN2 SMN1 NAIP
5 spinal muscular atrophy, type iii 33.9 SMN2 SMN1 SERF1A NAIP IGHMBP2 GTF2H2
6 spinal muscular atrophy, type i 33.9 SMN2 SMN1 NAIP IGHMBP2 GTF2H2 GEMIN2
7 spinal muscular atrophy with progressive myoclonic epilepsy 33.7 SMN2 SMN1 ASAH1
8 scapuloperoneal spinal muscular atrophy 33.7 TRPV4 IGHMBP2 BICD2
9 spinal muscular atrophy with lower extremity predominance 33.7 VAPB IGHMBP2 DYNC1H1 BICD2
10 neuronopathy, distal hereditary motor, type va 33.6 SMN2 SMN1 PLEKHG5 IGHMBP2 DNAJB2
11 spinal muscular atrophy, distal, autosomal recessive, 4 33.6 SMN2 SMN1 PLEKHG5
12 spinal muscular atrophy, distal, autosomal recessive, 2 33.5 TRPV4 BICD2
13 proximal spinal muscular atrophy 33.4 VAPB SMNDC1 SMN2 SMN1 NAIP BICD2
14 muscular atrophy 33.3 VRK1 VAPB UBA1 TRPV4 TRIP4 SMNDC1
15 childhood spinal muscular atrophy 33.3 SMN2 SMN1 SERF1A NAIP IGHMBP2 GTF2H2
16 spinal muscular atrophy type 0 33.2 SMN2 SMN1
17 progressive muscular atrophy 33.2 VAPB TRPV4 SMN2 SMN1
18 autosomal recessive distal hereditary motor neuronopathy 33.1 SMN2 SMN1 PLEKHG5 IGHMBP2 ATP7A
19 motor neuron disease 33.0 VRK1 VAPB TRPV4 SMN2 SMN1 PLEKHG5
20 spinal and bulbar muscular atrophy, x-linked 1 33.0 SMN2 SMN1 DNAJB2
21 neuromuscular disease 32.9 TRPV4 TRIP4 SMN2 SMN1 NAIP IGHMBP2
22 autosomal dominant distal hereditary motor neuronopathy 32.9 IGHMBP2 BICD2
23 distal hereditary motor neuronopathy type 7 32.6 PLEKHG5 DYNC1H1
24 autosomal dominant childhood-onset proximal spinal muscular atrophy 32.5 DYNC1H1 BICD2
25 spinal disease 32.4 SMN2 SMN1 NAIP
26 amyotrophic lateral sclerosis 1 32.2 VAPB TRIP4 SMN2 SMN1 NAIP IGHMBP2
27 charcot-marie-tooth disease 31.7 TRPV4 SMN2 PLEKHG5 IGHMBP2 DYNC1H1 DNAJB2
28 tooth disease 31.6 TRPV4 PLEKHG5 IGHMBP2 DYNC1H1 ATP7A
29 neuropathy 31.6 VRK1 TRPV4 IGHMBP2 DYNC1H1 BICD2
30 charcot-marie-tooth disease, axonal, type 2e 31.6 TRPV4 SMN2 SMN1 IGHMBP2 DNAJB2 BICD2
31 anterior horn cell disease 31.5 VRK1 SMN2 SMN1 IGHMBP2
32 congenital contractures 31.5 VRK1 UBA1 TRIP4
33 tay-sachs disease 31.2 SMN2 SMN1 ASAH1
34 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 12.0
35 spinal muscular atrophy, late-onset, finkel type 11.9
36 spinal muscular atrophy, distal, x-linked 3 11.9
37 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant 11.8
38 spinal muscular atrophy, distal, autosomal recessive, 3 11.8
39 spinal muscular atrophy with congenital bone fractures 1 11.8
40 neuronopathy, distal hereditary motor, type viii 11.8
41 spinal muscular atrophy, jokela type 11.8
42 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 11.8
43 spinal muscular atrophy with congenital bone fractures 2 11.7
44 spinal muscular atrophy, distal, autosomal recessive, 5 11.7
45 autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 11.7
46 spinal muscular atrophy, infantile, james type 11.7
47 autosomal dominant adult-onset proximal spinal muscular atrophy 11.7
48 charcot-marie-tooth hereditary neuropathy 11.6
49 pontocerebellar hypoplasia, type 1a 11.6
50 spinal muscular atrophy with lower extremity predominance 1 11.6

Comorbidity relations with Spinal Muscular Atrophy via Phenotypic Disease Network (PDN):


Acute Cystitis

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



Diseases related to Spinal Muscular Atrophy

Symptoms & Phenotypes for Spinal Muscular Atrophy

UMLS symptoms related to Spinal Muscular Atrophy:


seizures; tremor; back pain; headache; syncope; pain; chronic pain; sciatica; vertigo/dizziness; sleeplessness

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.96 VRK1
2 Decreased viability GR00221-A-2 9.96 VRK1
3 Decreased viability GR00221-A-4 9.96 VRK1
4 Decreased viability GR00240-S-1 9.96 ASAH1 SMN2
5 Decreased viability GR00249-S 9.96 ATP7A NAIP TRPV4
6 Decreased viability GR00301-A 9.96 VRK1
7 Decreased viability GR00381-A-1 9.96 ASAH1 GTF2H2 UBA1
8 Decreased viability GR00386-A-1 9.96 ASAH1 ATP7A DDX20 NAIP SMNDC1
9 Decreased viability GR00402-S-2 9.96 DDX20 UBA1 VAPB
10 Increased ionizing radiation sensitivity GR00232-A-1 8.92 DYNC1H1 GEMIN2 SMN1 VAPB

MGI Mouse Phenotypes related to Spinal Muscular Atrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 ASAH1 ATP7A DYNC1H1 IGHMBP2 PLEKHG5 SMN2

Drugs & Therapeutics for Spinal Muscular Atrophy

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

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2 Vaccines Phase 4
3 Immunologic Factors Phase 4
4 Analgesics, Non-Narcotic Phase 4
5 Analgesics Phase 4
6 Antipyretics Phase 4
7
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
8
4-Aminopyridine Approved Phase 2, Phase 3 504-24-5 1727
9
Risdiplam Approved, Investigational Phase 2, Phase 3 1825352-65-5
10
Testosterone Approved, Investigational Phase 2 58-22-0 6013
11
Leuprolide Approved, Investigational Phase 2 53714-56-0 3911 657181
12
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
13
Levetiracetam Approved Phase 2 102767-28-2 441341
14
Amifampridine Approved, Investigational Phase 2 54-96-6 5918
15
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
16 Hormones Phase 2
17 Hormone Antagonists Phase 2
18 Antineoplastic Agents, Hormonal Phase 2
19 Androgens Phase 2
20 Psychotropic Drugs Phase 2
21 Anticonvulsants Phase 2
22 Neurotransmitter Agents Phase 2
23 carnitine Phase 2
24 Cholinergic Agents Phase 2
25 Cholinesterase Inhibitors Phase 2
26 Bromides Phase 2
27 Pyridostigmine Bromide Phase 2 101-26-8
28 Nootropic Agents Phase 2
29 Immunoglobulin G Phase 2
30 Immunoglobulins Phase 2
31 Immunoglobulins, Intravenous Phase 2
32 Antibodies Phase 2
33 Antibodies, Monoclonal Phase 2
34 Potassium Channel Blockers Phase 2
35 4-phenylbutyric acid Phase 1, Phase 2
36 Antirheumatic Agents Phase 2
37 Anti-Inflammatory Agents Phase 2
38 Anti-Inflammatory Agents, Non-Steroidal Phase 2
39 Cyclooxygenase Inhibitors Phase 2
40 Cyclooxygenase 2 Inhibitors Phase 2
41
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
42
Itraconazole Approved, Investigational Phase 1 84625-61-6 55283
43
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
44
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
45
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
46 Cytochrome P-450 CYP3A Inhibitors Phase 1
47
Hydroxyitraconazole Phase 1 108222
48 Antifungal Agents Phase 1
49 Cytochrome P-450 Enzyme Inhibitors Phase 1
50 Hypnotics and Sedatives Phase 1

Interventional clinical trials:

(show top 50) (show all 151)
# 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 Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy Recruiting NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
4 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
5 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
6 A Randomized, Double-Blind, Placebo-Controlled Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
7 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
8 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
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 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
11 Escalating Dose and Randomized, Controlled Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Recruiting NCT04089566 Phase 2, Phase 3 Nusinersen
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 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
14 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
15 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
16 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
17 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
18 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
19 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
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 Autologous Purified Bone-Marrow-Derived Stem Cell Therapy for Motor Neuron Disease Unknown status NCT03067857 Phase 1, Phase 2
22 Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease Completed NCT00004771 Phase 2 leuprolide;testosterone
23 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
24 A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients Completed NCT00568698 Phase 1, Phase 2 Hydroxyurea;Placebo to match hydroxyurea
25 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
26 Can Treatment With Human Growth Hormone Increase Strength in Spinal Muscular Atrophy Type II and III? Completed NCT00533221 Phase 2 somatotropin;Placebo
27 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
28 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)
29 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
30 Prospective Controlled Trial of Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy (VALIANTSMA) Study Completed NCT00481013 Phase 2 Valproic Acid (VPA);Placebo
31 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
32 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
33 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
34 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
35 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
36 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
37 Effects of Power Mobility on the Development and Function of Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
38 A Pilot Trial of Levetiracetam for Cramps, Spasticity and Neuroprotection in Motor Neuron Disease Completed NCT00324454 Phase 2
39 An Open-Label Study of Risdiplam in Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy Recruiting NCT03779334 Phase 2 Risdiplam
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 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
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 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
44 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
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 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
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 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
49 A Single-Center, Randomized, Investigator/Subject-Blind, Adaptive Single-Ascending-Dose(SAD), Placebo-Controlled, Parallel Study to Investigate the Safety, Tolerability, Pharmacokinetics (Including the Effect of Food and the Effect of Itraconazole on the Pharmacokinetics of a Single Oral Dose of RO7034067), and Pharmacodynamics of RO7034067 Following Oral Administration in Healthy Subjects Completed NCT02633709 Phase 1 Itraconazole;Risdiplam
50 An Open-label Study to Assess the Safety and Tolerability of a Single Intrathecal Dose of ISIS 396443 in Patients With Spinal Muscular Atrophy Who Previously Participated in ISIS 396443-CS1 Completed NCT01780246 Phase 1 nusinersen

Search NIH Clinical Center for Spinal Muscular Atrophy

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Spinal Muscular Atrophy cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Spinal Muscular Atrophy:
MotorGraft, embryonic stem cell-derived motor neuron progenitors for neuromuscular diseases
Embryonic/Adult Cultured Cells Related to Spinal Muscular Atrophy:
Motor neuron progenitor cells

Genetic Tests for Spinal Muscular Atrophy

Genetic tests related to Spinal Muscular Atrophy:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy 29 GEMIN2 SMN1 SMNDC1

Anatomical Context for Spinal Muscular Atrophy

MalaCards organs/tissues related to Spinal Muscular Atrophy:

40
Spinal Cord, Bone, Skeletal Muscle, Tongue, Liver, Heart, Kidney

Publications for Spinal Muscular Atrophy

Articles related to Spinal Muscular Atrophy:

(show top 50) (show all 5268)
# Title Authors PMID Year
1
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). 6 25 61
10679938 2000
2
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. 54 61 6
19050931 2009
3
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. 6 54 61
12833158 2003
4
[SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1]. 61 6
26606804 2015
5
Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype. 61 6
25572663 2015
6
Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population. 61 6
20442745 2010
7
A positive modifier of spinal muscular atrophy in the SMN2 gene. 25 61 54
19716110 2009
8
Spinal muscular atrophy. 6 61
18572081 2008
9
A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches. 61 6
18155522 2008
10
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. 54 25 61
17431882 2007
11
A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy. 54 25 61
11978761 2002
12
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. 6 61
11839954 2002
13
A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. 61 54 25
9845364 1998
14
The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. 25 61 54
9323129 1997
15
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. 25 54 61
9199562 1997
16
Managing intrathecal administration of nusinersen in adolescents and adults with 5q-spinal muscular atrophy and previous spinal surgery. 42 61
33759979 2021
17
The Burden of Spinal Muscular Atrophy on Informal Caregivers. 42 61
33276656 2020
18
Continuous lengthening potential after four years of magnetically controlled spinal deformity correction in children with spinal muscular atrophy. 61 42
33380733 2020
19
Specific inhibition of myostatin activation is beneficial in mouse models of SMA therapy. 25 61
30481286 2019
20
Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps. 61 25
30221755 2019
21
Nusinersen: A Treatment for Spinal Muscular Atrophy. 61 20
30008228 2019
22
New and developing therapies in spinal muscular atrophy. 20 61
29703692 2018
23
The role of sleep diagnostics and non-invasive ventilation in children with spinal muscular atrophy. 25 61
30396824 2018
24
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. 25 61
29433793 2018
25
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. 25 61
29305137 2018
26
Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy. 61 25
29380287 2018
27
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. 61 25
29290580 2018
28
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. 25 61
29614695 2018
29
Ambulatory function in spinal muscular atrophy: Age-related patterns of progression. 25 61
29944707 2018
30
Natural history of infantile-onset spinal muscular atrophy. 25 61
29149772 2017
31
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. 61 25
29091557 2017
32
Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening. 25 61
28711173 2017
33
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. 61 25
29091570 2017
34
Pregnancy and delivery in women with spinal muscular atrophy. 61 25
28102719 2017
35
Spinal muscular atrophy: A changing phenotype beyond the clinical trials. 25 61
28757001 2017
36
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. 61 25
28676062 2017
37
Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0-4. 25 61
28108522 2017
38
Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review. 61 25
26260993 2015
39
Observational study of spinal muscular atrophy type I and implications for clinical trials. 25 61
25080519 2014
40
Pharmacology of a central nervous system delivered 2'-O-methoxyethyl-modified survival of motor neuron splicing oligonucleotide in mice and nonhuman primates. 61 25
24784568 2014
41
An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy. 61 25
23788250 2014
42
Spinal muscular atrophy and the antiapoptotic role of survival of motor neuron (SMN) protein. 25 61
23315303 2013
43
A novel function for the survival motoneuron protein as a translational regulator. 25 61
23136128 2013
44
Glucose metabolism and pancreatic defects in spinal muscular atrophy. 61 25
22926856 2012
45
Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy. 25 61
22424789 2012
46
Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients. 61 25
22459654 2012
47
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. 25 61
21811307 2012
48
Early treatment of scoliosis with growing rods in children with severe spinal muscular atrophy: a preliminary report. 61 25
21572284 2011
49
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. 61 25
18440926 2008
50
The changing natural history of spinal muscular atrophy type 1. 25 61
17998484 2007

Variations for Spinal Muscular Atrophy

ClinVar genetic disease variations for Spinal Muscular Atrophy:

6 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DYNC1H1 NM_001376.5(DYNC1H1):c.791G>T (p.Arg264Leu) SNV Pathogenic 162033 rs713993043 GRCh37: 14:102446717-102446717
GRCh38: 14:101980380-101980380
2 SMN1 NC_000005.10:g.(?_70951921)_(70952011_?)del Deletion Pathogenic 457356 GRCh37:
GRCh38: 5:70951921-70952011
3 SMN1 NM_000344.3(SMN1):c.835-21_*3+17del Deletion Pathogenic 571461 rs1561503058 GRCh37: 5:70247747-70247838
GRCh38: 5:70951920-70952011
4 SMN1 NC_000005.10:g.(?_70951941)_(70951991_?)del Deletion Pathogenic 583423 GRCh37: 5:70247768-70247818
GRCh38: 5:70951941-70951991
5 SMN1 NM_000344.3(SMN1):c.835-1G>A SNV Pathogenic 632989 rs1217001154 GRCh37: 5:70247767-70247767
GRCh38: 5:70951940-70951940
6 SMN1 NC_000005.10:g.(?_70951931)_(70952001_?)del Deletion Pathogenic 651822 GRCh37: 5:70247758-70247828
GRCh38: 5:70951931-70952001
7 VRK1 NC_000014.9:g.96876092_96876093CA[2] Microsatellite Pathogenic 873318 GRCh37: 14:97342428-97342429
GRCh38: 14:96876091-96876092
8 SMN1 GRCh37/hg19 5q13.2(chr5:70247768-70247821) copy number loss Pathogenic 916136 GRCh37: 5:70247768-70247821
GRCh38:
9 SMN1 NM_000344.3(SMN1):c.840C>T (p.Phe280=) SNV Pathogenic 586628 rs1164325688 GRCh37: 5:70247773-70247773
GRCh38: 5:70951946-70951946
10 IGHMBP2 NM_002180.2(IGHMBP2):c.388C>T (p.Arg130Ter) SNV Pathogenic 637263 rs972425138 GRCh37: 11:68675744-68675744
GRCh38: 11:68908276-68908276
11 SMN1 NC_000005.10:g.(?_70951912)_(70951994_?)del Deletion Pathogenic 832287 GRCh37: 5:70247739-70247821
GRCh38:
12 VRK1 NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) SNV Pathogenic 7497 rs137853063 GRCh37: 14:97342370-97342370
GRCh38: 14:96876033-96876033
13 IGHMBP2 NM_002180.3(IGHMBP2):c.34_35insCC (p.Lys12fs) Insertion Likely pathogenic 986345 GRCh37: 11:68671454-68671455
GRCh38: 11:68903986-68903987
14 SMN1 NM_000344.3(SMN1):c.*3+1G>A SNV Likely pathogenic 634946 rs1290417835 GRCh37: 5:70247822-70247822
GRCh38: 5:70951995-70951995
15 SMN1 NM_000344.4(SMN1):c.*3+1G>C SNV Likely pathogenic 928626 GRCh37: 5:70247822-70247822
GRCh38: 5:70951995-70951995
16 DYNC1H1 NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) SNV Likely pathogenic 197195 rs794727634 GRCh37: 14:102446289-102446289
GRCh38: 14:101979952-101979952
17 SMN1 NM_000344.3(SMN1):c.835-2A>T SNV Likely pathogenic 632984 rs141760116 GRCh37: 5:70247766-70247766
GRCh38: 5:70951939-70951939
18 SMN1 NM_000344.3(SMN1):c.835-2A>G SNV Likely pathogenic 632985 rs141760116 GRCh37: 5:70247766-70247766
GRCh38: 5:70951939-70951939
19 SMN1 NM_001297715.1(SMN1):c.835-478dup Duplication Likely pathogenic 495832 rs1554082383 GRCh37: 5:70247783-70247784
GRCh38: 5:70951956-70951957
20 IGHMBP2 NM_002180.2(IGHMBP2):c.-4G>A SNV Uncertain significance 305829 rs752980392 GRCh37: 11:68671417-68671417
GRCh38: 11:68903949-68903949
21 TLL2 NM_012465.4(TLL2):c.112G>C (p.Glu38Gln) SNV Uncertain significance 633779 rs1292893658 GRCh37: 10:98273331-98273331
GRCh38: 10:96513574-96513574
22 TLL2 NM_012465.4(TLL2):c.1609C>T (p.His537Tyr) SNV Uncertain significance 633780 rs1589410819 GRCh37: 10:98155061-98155061
GRCh38: 10:96395304-96395304
23 ARHGEF10 NM_014629.4(ARHGEF10):c.1081A>T (p.Arg361Ter) SNV Uncertain significance 800357 rs774853645 GRCh37: 8:1833772-1833772
GRCh38: 8:1885606-1885606
24 SMN1 NM_000344.3(SMN1):c.419A>T (p.Asp140Val) SNV Uncertain significance 448428 rs1554081968 GRCh37: 5:70238330-70238330
GRCh38: 5:70942503-70942503
25 SMN1 NM_000344.3(SMN1):c.835-3C>T SNV Uncertain significance 495829 rs772466166 GRCh37: 5:70247765-70247765
GRCh38: 5:70951938-70951938
26 SMN1 NM_001297715.1(SMN1):c.835-471dup Duplication Uncertain significance 644259 rs1580895068 GRCh37: 5:70247793-70247794
GRCh38: 5:70951966-70951967
27 SMN1 NM_000344.4(SMN1):c.864G>T (p.Arg288Ser) SNV Uncertain significance 928625 GRCh37: 5:70247797-70247797
GRCh38: 5:70951970-70951970
28 SMN1 NM_000344.3(SMN1):c.462A>G (p.Gln154=) SNV Likely benign 586626 rs4915 GRCh37: 5:70238373-70238373
GRCh38: 5:70942546-70942546
29 SMN2 , SMN1 NM_000344.3(SMN1):c.835-4dup Duplication Likely benign 527330 rs1554082376 GRCh37: 5:70247763-70247764
GRCh38: 5:70951936-70951937
30 SCO2 , TYMP NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) SNV Benign 130693 rs11479 GRCh37: 22:50964236-50964236
GRCh38: 22:50525807-50525807
31 SCO2 , TYMP NM_001953.5(TYMP):c.972C>T (p.Ala324=) SNV Benign 130694 rs131804 GRCh37: 22:50964862-50964862
GRCh38: 22:50526433-50526433
32 BICD2 NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu) SNV not provided 55857 rs398123028 GRCh37: 9:95491439-95491439
GRCh38: 9:92729157-92729157

Copy number variations for Spinal Muscular Atrophy from CNVD:

7 (show all 22)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 56865 11 61700000 63400000 Gain or loss BSCL2 Spinal muscular atrophy
2 57464 11 63400000 77100000 Copy number BSCL2 Spinal muscular atrophy
3 198524 5 25700000 76400000 Deletion SMN1 Spinal muscular atrophy
4 199998 5 464244 70285525 Copy number SMN2 Spinal muscular atrophy
5 199999 5 464244 70285525 Copy number SMN2 Spinal muscular atrophy
6 200000 5 464244 70285525 Deletion SMN1 Spinal muscular atrophy
7 200001 5 464244 70285525 Deletion SMN2 Spinal muscular atrophy
8 201211 5 66700000 76900000 Amplification Spinal muscular atrophy
9 201213 5 66700000 76900000 Copy number SMN1 Spinal muscular atrophy
10 201214 5 66700000 76900000 Copy number SMN2 Spinal muscular atrophy
11 201215 5 66700000 76900000 Deletion SMN2 Spinal muscular atrophy
12 201332 5 68400000 73300000 Gain or loss GUSBP1 Spinal muscular atrophy
13 201333 5 68400000 73300000 Gain or loss GUSBP14 Spinal muscular atrophy
14 201334 5 68400000 73300000 Gain or loss SMN1 Spinal muscular atrophy
15 201335 5 68400000 73300000 Copy number GUSBP1 Spinal muscular atrophy
16 201336 5 68400000 73300000 Copy number GUSBP1 Spinal muscular atrophy
17 201337 5 68400000 73300000 Copy number GUSBP14 Spinal muscular atrophy
18 201338 5 68400000 73300000 Copy number GUSBP14 Spinal muscular atrophy
19 201473 5 69345349 70249769 Copy number SMN1 Spinal muscular atrophy
20 201474 5 69345349 70249769 Copy number SMN2 Spinal muscular atrophy
21 201475 5 69345349 70249769 Copy number SMN2 Spinal muscular atrophy
22 201476 5 69345349 70249769 Deletion SMN1 Spinal muscular atrophy

Expression for Spinal Muscular Atrophy

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

Pathways for Spinal Muscular Atrophy

Pathways related to Spinal Muscular Atrophy according to KEGG:

36
# Name Kegg Source Accession
1 RNA transport hsa03013

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

# Super pathways Score Top Affiliating Genes
1 11.19 SMN2 SMN1 GEMIN2 DDX20
2 10.4 DYNC1H1 BICD2

GO Terms for Spinal Muscular Atrophy

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.24 VRK1 UBA1 TRIP4 SMNDC1 SMN2 SMN1
2 cytosol GO:0005829 10.22 VRK1 UBA1 TRIP4 SMN2 SMN1 SERF1A
3 cytoplasm GO:0005737 10.21 VRK1 VAPB UBA1 TRIP4 SMNDC1 SMN2
4 nucleoplasm GO:0005654 10.16 VRK1 UBA1 TRIP4 SMNDC1 SMN2 SMN1
5 nuclear body GO:0016604 9.72 TRIP4 SMN2 SMN1 IGHMBP2 GEMIN2
6 Cajal body GO:0015030 9.61 SMNDC1 SMN2 SMN1
7 SMN-Sm protein complex GO:0034719 9.46 SMN2 SMN1 GEMIN2 DDX20
8 Gemini of coiled bodies GO:0097504 9.26 SMN2 SMN1 GEMIN2 DDX20
9 SMN complex GO:0032797 8.92 SMN2 SMN1 GEMIN2 DDX20

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

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.72 SMNDC1 SMN2 SMN1 GEMIN2 DDX20
2 RNA splicing GO:0008380 9.65 SMNDC1 SMN2 SMN1 GEMIN2 DDX20
3 RNA splicing, via transesterification reactions GO:0000375 9.43 SMNDC1 GEMIN2
4 DNA-templated transcription, termination GO:0006353 9.4 SMN2 SMN1
5 regulation of steroid biosynthetic process GO:0050810 9.37 DDX20 ASAH1
6 spliceosomal complex assembly GO:0000245 9.33 SMN2 SMN1 GEMIN2
7 spliceosomal snRNP assembly GO:0000387 9.26 SMN2 SMN1 GEMIN2 DDX20
8 import into nucleus GO:0051170 8.92 SMN2 SMN1 GEMIN2 DDX20

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

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.8 UBA1 SMNDC1 SMN2 SMN1 IGHMBP2 DYNC1H1
2 nucleotide binding GO:0000166 9.76 VRK1 UBA1 TRPV4 NAIP IGHMBP2 DYNC1H1
3 protein binding GO:0005515 9.62 VRK1 VAPB UBA1 TRPV4 TRIP4 SMNDC1
4 ATP binding GO:0005524 9.56 VRK1 UBA1 TRPV4 NAIP IGHMBP2 DYNC1H1
5 dynein light intermediate chain binding GO:0051959 9.37 DYNC1H1 BICD2
6 nuclear receptor binding GO:0016922 9.32 TRIP4 ASAH1

Sources for Spinal Muscular Atrophy

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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