SMA
MCID: SPN046
MIFTS: 62

Spinal Muscular Atrophy (SMA)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Spinal Muscular Atrophy

MalaCards integrated aliases for Spinal Muscular Atrophy:

Name: Spinal Muscular Atrophy 11 24 19 42 52 75 28 5 41 14 36 16 71 33
Sma 19 42
Sma - [spinal Muscular Atrophy] 33
Hereditary Motor Neuronopathy 71
Progressive Muscular Atrophy 71
Spinal Muscle Degeneration 42
Atrophy, Muscular, Spinal 38
Muscular Atrophy Spinal 53
Spinal Muscle Wasting 42
Spinal Amyotrophies 42
Sma-Associated Sma 42
Spinal Amyotrophy 42
Proximal Sma 42
5q Sma 42

Classifications:



External Ids:

Disease Ontology 11 DOID:12377
ICD9CM 34 335.1
MeSH 43 D009134
NCIt 49 C85075
SNOMED-CT 68 5262007
ICD10 31 G12.9
UMLS 71 C0026847 C0917981 C3661519

Summaries for Spinal Muscular Atrophy

MedlinePlus: 41 What is spinal muscular atrophy (SMA)? Spinal muscular atrophy (SMA) is a group of genetic diseases that damages and kills motor neurons. Motor neurons are a type of nerve cell in the spinal cord and lower part of the brain. They control movement in your arms, legs, face, chest, throat, and tongue. As the motor neurons die off, your muscles start to weaken and atrophy (waste away). The muscle damage gets worse over time and can affect speaking, walking, swallowing, and breathing. What are the types of spinal muscular atrophy (SMA) and what are their symptoms? There are different types of SMA. They are based on how serious the disease is and when the symptoms start: Type l is also called Werdnig-Hoffman disease or infantile-onset SMA. It is the most severe type. It is also the most common. Babies with this type usually show signs of the disease before 6 months of age. In more severe cases, the signs show up even before or just after birth (Types 0 or 1A). The babies may have trouble swallowing and breathing and may not move around a lot. They have chronic shortening of muscles or tendons (called contractures). They usually cannot sit up without help. Without treatment, many children with this type will die before 2 years of age. Type ll is a moderate to severe type of SMA. It usually first noticed between 6 and 18 months of age. Most children with this type can sit without support but cannot stand or walk without help. They may also have trouble breathing. They can usually live into adolescence or young adulthood. Type lll is also called Kugelberg-Welander disease. It is the mildest type that affects children. The signs of the disease usually show up after age 18 months. Children with this type can walk by themselves but may have trouble running, getting up from a chair, or climbing stairs. They may also have scoliosis (curvature of the spine), contractures, and respiratory infections. With treatment, most children with this type will have a normal lifespan. Type IV is rare and often mild. It usually causes symptoms after 21 years of age. The symptoms include mild to moderate leg muscle weakness, tremors, and mild breathing problems. The symptoms slowly get worse over time. People with this type of SMA have a normal lifespan. What causes spinal muscular atrophy (SMA)? Most types of SMA are caused by a change in the SMN1 gene. This gene is responsible for making a protein that the motor neurons need to be healthy and to function. But when part of the SMN1 gene is missing or abnormal, there isn't enough protein for the motor neurons. This causes the motor neurons to die off. Most people have two copies of the SM1 gene - one from each parent. SMA normally only happens when both copies have the gene change. If only one copy has the change, there usually aren't any symptoms. But that gene could be passed down from parent to child. Some of the less common types of SMA may be caused by changes in other genes. How is spinal muscular atrophy (SMA) diagnosed? Your health care provider may use many tools to diagnose SMA: A physical exam A medical history, including asking about family history Genetic testing to check for the gene changes that cause SMA Electromyography and nerve conduction studies and a muscle biopsy may be done, especially if no gene changes were found Parents who have a family history of SMA may want to do a prenatal test to check to see whether their baby has an SMN1 gene change. An amniocentesis or in some cases a chorionic villi sampling (CVS) is used to get the sample for testing. In some states, genetic testing for SMA is part of newborn screening tests. What are the treatments for spinal muscular atrophy (SMA)? There is no cure for SMA. Treatments can help manage symptoms and prevent complications. They may include: Medicines to help the body make more of the proteins that the motor neurons need Gene therapy for children under 2 years of age Physical, occupational, and rehabilitation therapy to help to improve posture and the mobility of the joints. These therapies may also improve blood flow and slow muscle weakness and atrophy. Some people may also need therapy for trouble speaking, chewing, and swallowing. Assistive devices such as supports or braces, orthotics, speech synthesizers, and wheelchairs to help people stay more independent Good nutrition and a balanced diet to help maintain weight and strength. Some people might need a feeding tube in order to get the nutrition they need. Breathing support for people who have muscle weakness in the neck, throat, and chest. The support may include devices to help with breathing during the day and to prevent sleep apnea at night. Some people might need to be on a ventilator. NIH: National Institute of Neurological Disorders and Stroke

MalaCards based summary: Spinal Muscular Atrophy, also known as sma, is related to spinal muscular atrophy, distal, autosomal recessive, 1 and spinal muscular atrophy, x-linked 2, and has symptoms including tremor, back pain and headache. An important gene associated with Spinal Muscular Atrophy is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways/superpathways is SARS-CoV-2 modulates host translation machinery. The drugs Acetaminophen and Risdiplam have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skeletal muscle and tongue, and related phenotypes are nervous system and normal

MedlinePlus Genetics: 42 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.

NINDS: 52 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 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.

GARD: 19 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). 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 genetic changes) 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. 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.

Disease Ontology: 11 A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.

Wikipedia: 75 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 842)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, distal, autosomal recessive, 1 34.0 SMN2 SMN1 IGHMBP2 GARS1
2 spinal muscular atrophy, x-linked 2 34.0 UBA1 SMN2 SMN1 IGHMBP2
3 spinal muscular atrophy, type ii 33.9 SMN2 SMN1 NAIP GTF2H2 GEMIN2 BICD2
4 spinal muscular atrophy, type i 33.9 ZPR1 UBA1 SMN2 SMN1 SERF1A NAIP
5 spinal muscular atrophy, type iii 33.9 ZPR1 SMN2 SMN1 SERF1A NAIP IGHMBP2
6 spinal muscular atrophy, type iv 33.8 SMN2 SMN1 NAIP
7 spinal muscular atrophy with progressive myoclonic epilepsy 33.7 SMN2 SMN1 ASAH1
8 spinal muscular atrophy with lower extremity predominant 33.7 IGHMBP2 GARS1 DYNC1H1 BICD2
9 neuronopathy, distal hereditary motor, type va 33.5 SMN2 SMN1 IGHMBP2 GARS1
10 scapuloperoneal spinal muscular atrophy 33.5 IGHMBP2 GARS1 DYNC1H1 BICD2
11 muscular atrophy 33.3 ZPR1 VRK1 UBA1 TRIP4 SMNDC1 SMN2
12 childhood spinal muscular atrophy 33.3 ZPR1 SMN2 SMN1 SERF1A NAIP IGHMBP2
13 charcot-marie-tooth hereditary neuropathy 33.2 VRK1 IGHMBP2 GARS1
14 spinal muscular atrophy type 0 33.2 SMN2 SMN1
15 autosomal dominant distal hereditary motor neuronopathy 33.2 IGHMBP2 GARS1 DYNC1H1 BICD2
16 motor neuron disease 33.1 VRK1 SMN2 SMN1 NAIP DYNC1H1 BICD2
17 neuromuscular disease 33.0 SMN2 SMN1 NAIP IGHMBP2 GEMIN2 GARS1
18 autosomal recessive distal hereditary motor neuronopathy 33.0 SMN2 SMN1 IGHMBP2 GARS1
19 spinal and bulbar muscular atrophy, x-linked 1 33.0 SMN2 SMN1 AR
20 progressive muscular atrophy 32.9 SMN2 SMN1
21 distal hereditary motor neuronopathy type 7 32.6 IGHMBP2 DYNC1H1 BICD2
22 pontocerebellar hypoplasia 32.5 VRK1 SMN2 SMN1 IGHMBP2 GARS1
23 spinal disease 32.5 SMN2 SMN1 NAIP AR
24 neuronopathy, distal hereditary motor, type viib 32.5 DYNC1H1 BICD2
25 distal arthrogryposis 31.9 TRIP4 SMN2 SMN1 IGHMBP2 DYNC1H1 BICD2
26 charcot-marie-tooth disease 31.6 SMN2 SMN1 IGHMBP2 GARS1 DYNC1H1 BICD2
27 charcot-marie-tooth disease, axonal, type 2e 31.6 SMN2 SMN1 IGHMBP2 GARS1 DYNC1H1 BICD2
28 tooth disease 31.6 IGHMBP2 GARS1 DYNC1H1
29 congenital contractures 31.4 VRK1 UBA1 TRIP4
30 anterior horn cell disease 31.4 SMN2 SMN1 IGHMBP2
31 peripheral nervous system disease 31.2 SMN2 SMN1 IGHMBP2 GARS1 DYNC1H1 AR
32 motor peripheral neuropathy 31.2 IGHMBP2 GARS1 DYNC1H1 BICD2
33 tay-sachs disease 31.1 SMN2 SMN1 ASAH1
34 hereditary spastic paraplegia 31.1 SMN2 SMN1 IGHMBP2 GARS1 DYNC1H1 BICD2
35 charcot-marie-tooth disease, axonal, type 2d 31.0 IGHMBP2 GARS1
36 congenital myasthenic syndrome 30.6 SMN2 SMN1 IGHMBP2 GARS1
37 neuronal ceroid lipofuscinosis 30.1 SMN2 SMN1 ASAH1
38 spinal muscular atrophy, distal, x-linked 3 11.9
39 spinal muscular atrophy, distal, autosomal recessive, 2 11.9
40 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 11.9
41 spinal muscular atrophy, distal, autosomal recessive, 3 11.9
42 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant 11.8
43 spinal muscular atrophy, distal, autosomal recessive, 4 11.8
44 neuronopathy, distal hereditary motor, type viii 11.8
45 spinal muscular atrophy, late-onset, finkel type 11.8
46 spinal muscular atrophy with congenital bone fractures 1 11.8
47 proximal spinal muscular atrophy 11.8
48 autosomal dominant adult-onset proximal spinal muscular atrophy 11.8
49 autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 11.8
50 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 11.8

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:


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

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.18 AR ASAH1 ATP7A BICD2 COIL DDX20
2 no effect GR00402-S-2 10.18 AR ASAH1 ATP7A BICD2 COIL DYNC1H1

MGI Mouse Phenotypes related to Spinal Muscular Atrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 AR ASAH1 ATP7A BICD2 DYNC1H1 GARS1
2 normal MP:0002873 9.97 AR ATP7A BICD2 GARS1 NAIP SMN1
3 homeostasis/metabolism MP:0005376 9.97 AR ASAH1 ATP7A DDX20 DYNC1H1 GARS1
4 muscle MP:0005369 9.86 AR ASAH1 ATP7A DYNC1H1 GARS1 IGHMBP2
5 cellular MP:0005384 9.7 AR ASAH1 ATP7A BICD2 COIL IGHMBP2
6 mortality/aging MP:0010768 9.55 AR ASAH1 ATP7A BICD2 COIL DDX20

Drugs & Therapeutics for Spinal Muscular Atrophy

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

(show top 50) (show all 79)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2
Risdiplam Approved, Investigational Phase 4 1825352-65-5 118513932
3 Antipyretics Phase 4
4 Immunologic Factors Phase 4
5 Vaccines Phase 4
6
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
7
Dalfampridine Approved Phase 2, Phase 3 504-24-5 1727
8
Lactitol Approved, Investigational Phase 3 585-86-4 157355
9 Potassium Channel Blockers Phase 2, Phase 3
10 Immunoglobulins, Intravenous Phase 3
11 Immunoglobulins Phase 3
12 Immunoglobulin G Phase 3
13 Antibodies, Monoclonal Phase 3
14 Antibodies Phase 3
15
Leuprolide Approved, Investigational Phase 2 53714-56-0 657181
16
Testosterone Approved, Investigational Phase 2 58-22-0 5408 6013
17
Levetiracetam Approved Phase 2 102767-28-2 441341 5284583
18
Amifampridine Approved, Investigational Phase 2 54-96-6 5918
19
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
20
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental Phase 2 461-06-3
21 Neurotransmitter Agents Phase 2
22 Anticonvulsants Phase 2
23 Bromides Phase 2
24
Pyridostigmine Bromide Phase 2 101-26-8
25 Cholinesterase Inhibitors Phase 2
26 Cholinergic Agents Phase 2
27 Hormone Antagonists Phase 2
28 Antineoplastic Agents, Hormonal Phase 2
29 Androgens Phase 2
30 Nootropic Agents Phase 2
31 Pharmaceutical Solutions Phase 2
32 4-phenylbutyric acid Phase 1, Phase 2
33 Analgesics Phase 2
34 Analgesics, Non-Narcotic Phase 2
35 Antirheumatic Agents Phase 2
36 Cyclooxygenase Inhibitors Phase 2
37 Cyclooxygenase 2 Inhibitors Phase 2
38 Anti-Inflammatory Agents, Non-Steroidal Phase 2
39 Anti-Inflammatory Agents Phase 2
40
Itraconazole Approved, Investigational Phase 1 84625-61-6 55283
41
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
42
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
43
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
44
Esomeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6, 119141-88-7 9568614 4594
45 Psychotropic Drugs Phase 1
46 Antifungal Agents Phase 1
47
Hydroxyitraconazole Phase 1 108222
48 Cytochrome P-450 Enzyme Inhibitors Phase 1
49 Cytochrome P-450 CYP3A Inhibitors Phase 1
50 Anti-Anxiety Agents Phase 1

Interventional clinical trials:

(show top 50) (show all 194)
# Name Status NCT ID Phase Drugs
1 Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy Unknown status NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
2 Comparison of the Immunogenicity of Intramuscular Versus Subcutaneous Administration of Trivalent Inactivated Influenza Vaccine in Individuals With Neuromuscular Diseases Completed NCT01422200 Phase 4
3 A Phase 4 Study of Nusinersen (BIIB058) Among Patients With Spinal Muscular Atrophy Who Received Onasemnogene Abeparvovec Recruiting NCT04488133 Phase 4 Nusinersen
4 Long-Term Follow-Up Study of Patients With Spinal Muscular Atrophy Receiving Risdiplam Treatment Recruiting NCT05232929 Phase 4 Risdiplam
5 A Phase IV Open-label, Single-arm, Single-dose, Multicenter Study to Evaluate the saFEty, toLerability and effIcacy of Gene Replacement Therapy With Intravenous OAV101 (AVXS-101) in Pediatric Patients From Latin America and Canada With Spinal Muscular Atrophy (SMA) - OFELIA Active, not recruiting NCT05073133 Phase 4
6 Risdiplam Exchange in Patients With Spinal Muscular Atrophy (SMA) Previously and Exclusively Treated With Nusinersen Not yet recruiting NCT05522361 Phase 4 Risdiplam
7 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
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 NCT03837184 Phase 3
11 A Randomized, Double-Blind, Placebo-Controlled Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
12 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 Completed NCT03505099 Phase 3
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 Completed NCT03461289 Phase 3
14 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
15 Phase 3, Double-Blind, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Apitegromab (SRK-015) in Patients With Later-Onset Spinal Muscular Atrophy Receiving Background Nusinersen or Risdiplam Therapy Recruiting NCT05156320 Phase 3 Apitegromab;Placebo
16 A Phase 3b Study to Evaluate Higher Dose Nusinersen (BIIB058) in Patients With Spinal Muscular Atrophy Previously Treated With Risdiplam Recruiting NCT05067790 Phase 3 Nusinersen
17 Escalating Dose and Randomized, Controlled Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Recruiting NCT04089566 Phase 2, Phase 3 Nusinersen
18 A Phase IIIb, Open-label, Single-arm, Single-dose, Multicenter Study to Evaluate the Safety, Tolerability and Efficacy of Gene Replacement Therapy With Intravenous OAV101 (AVXS-101) in Pediatric Patients With Spinal Muscular Atrophy (SMA) Recruiting NCT04851873 Phase 3
19 A Randomized, Double-Blind, Placebo-Controlled, Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Ambulatory and Non-Ambulatory Participants With Spinal Muscular Atrophy With Open-Label Extension Recruiting NCT05337553 Phase 3 tadefgrobep alfa;Placebo
20 A Two-Part, Seamless, Multi-Center, Randomized, Placebo-Controlled, Double-Blind Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7204239 in Combination With Risdiplam (RO7034067) in Ambulant Patients With Spinal Muscular Atrophy Recruiting NCT05115110 Phase 2, Phase 3 RO7204239;Placebo;Risdiplam
21 A Randomized, Sham-controlled, Double-blind Study to Evaluate the Efficacy and Safety of Intrathecal OAV101 in Type 2 Spinal Muscular Atrophy (SMA) Patients Who Are ≥ 2 to < 18 Years of Age, Treatment Naive, Sitting, and Never Ambulatory Recruiting NCT05089656 Phase 3
22 A Long-term Follow-up Study of Patients in the Clinical Trials for Spinal Muscular Atrophy Receiving AVXS-101 Active, not recruiting NCT04042025 Phase 3
23 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
24 A Two Part Seamless, Open-label, Multicenter Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of Risdiplam (RO7034067) in Infants With Type 1 Spinal Muscular Atrophy Active, not recruiting NCT02913482 Phase 2, Phase 3 Risdiplam
25 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
26 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 Enrolling by invitation NCT04729907 Phase 3 Nusinersen
27 An Open-Label, Multicenter, Extension Trial to Evaluate the Long-Term Safety and Efficacy of Apitegromab in Patients With Type 2 and Type 3 Spinal Muscular Atrophy Who Completed Previous Investigational Trials of Apitegromab Not yet recruiting NCT05626855 Phase 3 Apitegromab
28 Long-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 IT or OAV101 IV in Clinical Trials Not yet recruiting NCT05335876 Phase 3
29 Phase IIIb, Open-label, Single-arm, Multi-center Study to Evaluate the Safety, Tolerability and Efficacy of OAV101 Administered Intrathecally (1.2 x 10^14 Vector Genomes) to Participants 2 to 12 Years of Age With Spinal Muscular Atrophy (SMA) Who Have Discontinued Treatment With Nusinersen (Spinraza®) or Risdiplam (Evrysdi®) Not yet recruiting NCT05386680 Phase 3
30 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
31 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
32 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
33 Autologous Purified Bone-Marrow-Derived Stem Cell Therapy for Motor Neuron Disease Unknown status NCT03067857 Phase 1, Phase 2
34 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
35 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
36 Prospective Controlled Trial of Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy (VALIANTSMA) Study Completed NCT00481013 Phase 2 Valproic Acid (VPA);Placebo
37 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
38 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
39 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)
40 Can Treatment With Human Growth Hormone Increase Strength in Spinal Muscular Atrophy Type II and III? Completed NCT00533221 Phase 2 somatotropin;Placebo
41 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
42 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
43 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
44 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
45 A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients Completed NCT00568698 Phase 1, Phase 2 Hydroxyurea;Placebo to match hydroxyurea
46 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
47 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
48 Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease Completed NCT00004771 Phase 2 leuprolide;testosterone
49 Effects of Power Mobility on the Development and Function of Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
50 A Pilot Trial of Levetiracetam for Cramps, Spasticity and Neuroprotection in Motor Neuron Disease Completed NCT00324454 Phase 2

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 28 GEMIN2 SMN1 SMNDC1

Anatomical Context for Spinal Muscular Atrophy

Organs/tissues related to Spinal Muscular Atrophy:

MalaCards : Spinal Cord, Skeletal Muscle, Tongue, Brain, Heart, Bone Marrow, Bone

Publications for Spinal Muscular Atrophy

Articles related to Spinal Muscular Atrophy:

(show top 50) (show all 6198)
# 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). 62 24 5
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. 53 62 5
19050931 2009
3
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. 53 62 5
12833158 2003
4
Phenotypes of SMA patients retaining SMN1 with intragenic mutation. 62 5
33892995 2021
5
A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron protein. 62 5
27481219 2016
6
[SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1]. 62 5
26606804 2015
7
Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype. 62 5
25572663 2015
8
The survival motor neuron protein forms soluble glycine zipper oligomers. 62 5
23022347 2012
9
Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population. 62 5
20442745 2010
10
A positive modifier of spinal muscular atrophy in the SMN2 gene. 53 62 24
19716110 2009
11
Spinal muscular atrophy. 62 5
18572081 2008
12
A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches. 62 5
18155522 2008
13
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. 53 62 24
17431882 2007
14
A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy. 53 62 24
11978761 2002
15
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. 62 5
11839954 2002
16
A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. 53 62 24
9845364 1998
17
The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. 53 62 24
9323129 1997
18
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. 53 62 24
9199562 1997
19
SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members. 62 41
36375840 2023
20
PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. 62 41
36421785 2022
21
Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy. 62 41
36346824 2022
22
Specific inhibition of myostatin activation is beneficial in mouse models of SMA therapy. 62 24
30481286 2019
23
Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps. 62 24
30221755 2019
24
The role of sleep diagnostics and non-invasive ventilation in children with spinal muscular atrophy. 62 24
30396824 2018
25
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. 62 24
29305137 2018
26
Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy. 62 24
29380287 2018
27
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. 62 24
29433793 2018
28
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. 62 24
29290580 2018
29
Ambulatory function in spinal muscular atrophy: Age-related patterns of progression. 62 24
29944707 2018
30
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. 62 24
29614695 2018
31
Natural history of infantile-onset spinal muscular atrophy. 62 24
29149772 2017
32
Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening. 62 24
28711173 2017
33
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. 62 24
29091557 2017
34
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. 62 24
29091570 2017
35
Pregnancy and delivery in women with spinal muscular atrophy. 62 24
28102719 2017
36
Spinal muscular atrophy: A changing phenotype beyond the clinical trials. 62 24
28757001 2017
37
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. 62 24
28676062 2017
38
Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0-4. 62 24
28108522 2017
39
Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review. 62 24
26260993 2015
40
Observational study of spinal muscular atrophy type I and implications for clinical trials. 62 24
25080519 2014
41
Pharmacology of a central nervous system delivered 2'-O-methoxyethyl-modified survival of motor neuron splicing oligonucleotide in mice and nonhuman primates. 62 24
24784568 2014
42
An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy. 62 24
23788250 2014
43
Spinal muscular atrophy and the antiapoptotic role of survival of motor neuron (SMN) protein. 62 24
23315303 2013
44
A novel function for the survival motoneuron protein as a translational regulator. 62 24
23136128 2013
45
Glucose metabolism and pancreatic defects in spinal muscular atrophy. 62 24
22926856 2012
46
Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy. 62 24
22424789 2012
47
Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients. 62 24
22459654 2012
48
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. 62 24
21811307 2012
49
Early treatment of scoliosis with growing rods in children with severe spinal muscular atrophy: a preliminary report. 62 24
21572284 2011
50
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. 62 24
18440926 2008

Variations for Spinal Muscular Atrophy

ClinVar genetic disease variations for Spinal Muscular Atrophy:

5 (show all 37)
# 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 NM_000344.4(SMN1):c.835-21_*3+17del DEL Pathogenic
571461 rs1561503058 GRCh37: 5:70247747-70247838
GRCh38: 5:70951920-70952011
3 SMN1 NM_000344.4(SMN1):c.835-1G>A SNV Pathogenic
632989 rs1217001154 GRCh37: 5:70247767-70247767
GRCh38: 5:70951940-70951940
4 SMN1 NC_000005.10:g.(?_70951931)_(70952001_?)del DEL Pathogenic
651822 GRCh37: 5:70247758-70247828
GRCh38: 5:70951931-70952001
5 VRK1 NM_003384.3(VRK1):c.1135_1136del (p.Gln379fs) MICROSAT Pathogenic
873318 rs1889019962 GRCh37: 14:97342428-97342429
GRCh38: 14:96876091-96876092
6 SMN1 GRCh37/hg19 5q13.2(chr5:70247768-70247821) CN LOSS Pathogenic
916136 GRCh37: 5:70247768-70247821
GRCh38:
7 SMN1 NM_000344.4(SMN1):c.840C>T (p.Phe280=) SNV Pathogenic
586628 rs1164325688 GRCh37: 5:70247773-70247773
GRCh38: 5:70951946-70951946
8 IGHMBP2 NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter) SNV Pathogenic
637263 rs972425138 GRCh37: 11:68675744-68675744
GRCh38: 11:68908276-68908276
9 SMN1 NC_000005.10:g.(?_70951921)_(70952011_?)del DEL Pathogenic
457356 GRCh37: 5:70247748-70247838
GRCh38: 5:70951921-70952011
10 SMN1 NC_000005.10:g.(?_70951941)_(70951991_?)del DEL Pathogenic
583423 GRCh37: 5:70247768-70247818
GRCh38: 5:70951941-70951991
11 SMN1 NC_000005.10:g.(?_70951912)_(70951994_?)del DEL Pathogenic
832287 GRCh37: 5:70247739-70247821
GRCh38:
12 SMN1 NM_000344.4(SMN1):c.549del (p.Lys184fs) DEL Pathogenic
1699219 GRCh37: 5:70238619-70238619
GRCh38: 5:70942792-70942792
13 SMN1 NM_000344.4(SMN1):c.291del (p.Lys97fs) DEL Pathogenic
1699436 GRCh37: 5:70238200-70238200
GRCh38: 5:70942373-70942373
14 SMN1 NM_000344.4(SMN1):c.855dup (p.Glu286fs) DUP Likely Pathogenic
495832 rs1554082383 GRCh37: 5:70247783-70247784
GRCh38: 5:70951956-70951957
15 SMN1 NM_000344.4(SMN1):c.803A>G (p.Tyr268Cys) SNV Likely Pathogenic
448430 rs1554082113 GRCh37: 5:70241972-70241972
GRCh38: 5:70946145-70946145
16 SMN2 NM_017411.4(SMN2):c.859G>C (p.Gly287Arg) SNV Likely Pathogenic
7962 rs121909192 GRCh37: 5:69372372-69372372
GRCh38: 5:70076545-70076545
17 IGHMBP2 NM_002180.3(IGHMBP2):c.34_35insCC (p.Lys12fs) INSERT Likely Pathogenic
986345 rs1858067021 GRCh37: 11:68671454-68671455
GRCh38: 11:68903986-68903987
18 SMN1 NM_000344.4(SMN1):c.*3+1G>A SNV Likely Pathogenic
634946 rs1290417835 GRCh37: 5:70247822-70247822
GRCh38: 5:70951995-70951995
19 SMN1 NM_000344.4(SMN1):c.*3+1G>C SNV Likely Pathogenic
928626 rs1290417835 GRCh37: 5:70247822-70247822
GRCh38: 5:70951995-70951995
20 SMN1 NM_000344.4(SMN1):c.835-2A>T SNV Likely Pathogenic
632984 rs141760116 GRCh37: 5:70247766-70247766
GRCh38: 5:70951939-70951939
21 SMN1 NM_000344.4(SMN1):c.835-2A>G SNV Likely Pathogenic
632985 rs141760116 GRCh37: 5:70247766-70247766
GRCh38: 5:70951939-70951939
22 IGHMBP2 NM_002180.3(IGHMBP2):c.-4G>A SNV Uncertain Significance
305829 rs752980392 GRCh37: 11:68671417-68671417
GRCh38: 11:68903949-68903949
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 TLL2 NM_012465.4(TLL2):c.112G>C (p.Glu38Gln) SNV Uncertain Significance
633779 rs1292893658 GRCh37: 10:98273331-98273331
GRCh38: 10:96513574-96513574
25 TLL2 NM_012465.4(TLL2):c.1609C>T (p.His537Tyr) SNV Uncertain Significance
633780 rs1589410819 GRCh37: 10:98155061-98155061
GRCh38: 10:96395304-96395304
26 SMN1 NM_000344.4(SMN1):c.864G>T (p.Arg288Ser) SNV Uncertain Significance
928625 rs368899583 GRCh37: 5:70247797-70247797
GRCh38: 5:70951970-70951970
27 SMN1 NM_000344.4(SMN1):c.419A>T (p.Asp140Val) SNV Uncertain Significance
448428 rs1554081968 GRCh37: 5:70238330-70238330
GRCh38: 5:70942503-70942503
28 SMN1 NM_000344.4(SMN1):c.835-3C>T SNV Uncertain Significance
495829 rs772466166 GRCh37: 5:70247765-70247765
GRCh38: 5:70951938-70951938
29 SMN1 NM_000344.4(SMN1):c.862dup (p.Arg288fs) DUP Uncertain Significance
644259 rs1580895068 GRCh37: 5:70247793-70247794
GRCh38: 5:70951966-70951967
30 SMN1 NC_000005.9:g.(?_70219768)_70249839dup DUP Likely Benign
1105890 GRCh37:
GRCh38:
31 SMN1 NC_000005.9:g.(?_70247739)_(70247821_?)dup DUP Likely Benign
1132070 GRCh37: 5:70247739-70247821
GRCh38:
32 SMN1 NM_000344.4(SMN1):c.462A>G (p.Gln154=) SNV Likely Benign
586626 rs4915 GRCh37: 5:70238373-70238373
GRCh38: 5:70942546-70942546
33 SMN2, SMN1 NM_000344.4(SMN1):c.835-4dup DUP Likely Benign
527330 rs1554082376 GRCh37: 5:70247763-70247764
GRCh38: 5:70951936-70951937
34 SCO2, TYMP NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) SNV Benign
130693 rs11479 GRCh37: 22:50964236-50964236
GRCh38: 22:50525807-50525807
35 SCO2, TYMP NM_001953.5(TYMP):c.972C>T (p.Ala324_Gln325=) SNV Benign
130694 rs131804 GRCh37: 22:50964862-50964862
GRCh38: 22:50526433-50526433
36 SMN1 GRCh37/hg19 5q13.2(chr5:70220768-70247953)x0 CN LOSS Not Provided
1177497 GRCh37: 5:70220768-70247953
GRCh38:
37 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:

6 (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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.87 SMN2 SMN1 GEMIN2 DDX20

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 10.69 AR ASAH1 ATP7A BICD2 COIL DDX20
2 cytoplasm GO:0005737 10.59 AR ASAH1 ATP7A BICD2 DDX20 DYNC1H1
3 axon GO:0030424 10.15 ZPR1 SMN2 SMN1 IGHMBP2 GARS1 ATP7A
4 nuclear body GO:0016604 10.1 COIL GEMIN2 IGHMBP2 SMN1 SMN2 TRIP4
5 perikaryon GO:0043204 10.06 ATP7A SMN1 SMN2 ZPR1
6 cell projection GO:0042995 9.98 ZPR1 SMN2 SMN1 IGHMBP2 GARS1 DYNC1H1
7 Cajal body GO:0015030 9.96 ZPR1 SMNDC1 SMN2 SMN1 COIL
8 SMN-Sm protein complex GO:0034719 9.76 DDX20 GEMIN2 SMN1 SMN2
9 SMN complex GO:0032797 9.56 SMN2 SMN1 GEMIN2 DDX20
10 Gemini of coiled bodies GO:0097504 9.32 ZPR1 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 9.81 DDX20 GEMIN2 SMN1 SMN2 SMNDC1 ZPR1
2 spliceosomal complex assembly GO:0000245 9.73 SMN2 SMN1 GEMIN2
3 DNA-templated transcription termination GO:0006353 9.67 SMN2 SMN1
4 regulation of steroid biosynthetic process GO:0050810 9.62 DDX20 ASAH1
5 RNA splicing GO:0008380 9.56 ZPR1 SMNDC1 SMN2 SMN1 GEMIN2 DDX20
6 spliceosomal snRNP assembly GO:0000387 9.32 SMN2 SMN1 GEMIN2 DDX20 COIL

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.23 VRK1 UBA1 NAIP IGHMBP2 GARS1 DYNC1H1

Sources for Spinal Muscular Atrophy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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