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SMA
MCID: SPN046
MIFTS: 64

Spinal Muscular Atrophy (SMA)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Spinal Muscular Atrophy

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MalaCards integrated aliases for Spinal Muscular Atrophy:

Name: Spinal Muscular Atrophy 12 74 24 52 25 53 36 29 6 42 15 37 17 71
Sma 52 25 17
Hereditary Motor Neuronopathy 71
Progressive Muscular Atrophy 71
Spinal Muscle Degeneration 25
Atrophy, Muscular, Spinal 39
Muscular Atrophy, Spinal 43
Muscular Atrophy Spinal 54
Spinal Muscle Wasting 25
Spinal Amyotrophies 25
Sma-Associated Sma 25
Spinal Amyotrophy 25
Proximal Sma 25
5q Sma 25

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Respiratory diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:12377
KEGG 36 H00455
ICD9CM 34 335.1 335.10
MeSH 43 D009134
NCIt 49 C85075
SNOMED-CT 67 5262007
ICD10 32 G12.9
UMLS 71 C0026847 C0917981 C3661519
Sources

Summaries for Spinal Muscular Atrophy

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Genetics Home Reference : 25 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, type ii 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 Riluzole and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include testes, spinal cord and bone, 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.

NIH Rare Diseases : 52 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 : 74 Spinal muscular atrophy (SMA) is a group of neuromuscular disorders that result in the loss of motor... more...

GeneReviews: NBK1352
Sources

Related Diseases for Spinal Muscular Atrophy

About this section

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
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 601)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, type ii 35.8 SMN2 SMN1 NAIP
2 spinal muscular atrophy, distal, autosomal recessive, 1 35.8 SMN2 SMN1 IGHMBP2
3 spinal muscular atrophy, type iv 35.8 VAPB SMN2 SMN1 NAIP ASAH1
4 spinal muscular atrophy, type iii 35.7 SMN2 SMN1 SERF1A NAIP IGHMBP2 GTF2H2
5 spinal muscular atrophy, type i 35.5 VRK1 SMN2 SMN1 SERF1A NAIP IGHMBP2
6 proximal spinal muscular atrophy 35.5 SMNDC1 SMN2 SMN1 NAIP BICD2
7 spinal muscular atrophy with lower extremity predominance 35.4 DYNC1H1 BICD2
8 survival motor neuron spinal muscular atrophy 35.3 VRK1 SMN2 SMN1 SERF1A NAIP IGHMBP2
9 spinal muscular atrophy, distal, autosomal recessive, 2 35.3 TRPV4 BICD2
10 autosomal dominant distal hereditary motor neuronopathy 34.4 TRPV4 IGHMBP2 BICD2
11 progressive muscular atrophy 34.4 VAPB TRPV4 SMN2 SMN1
12 charcot-marie-tooth hereditary neuropathy 34.1 TRPV4 IGHMBP2
13 motor neuron disease 34.0 VAPB SMN2 SMN1 PLEKHG5 NAIP DYNC1H1
14 neuromuscular disease 33.7 TRPV4 SMN2 SMN1 NAIP IGHMBP2 DYNC1H1
15 distal hereditary motor neuropathies 33.5 TRPV4 IGHMBP2
16 spinal disease 33.4 SMN2 SMN1 NAIP
17 muscular atrophy 33.2 VRK1 VAPB UBA1 TRPV4 TRIP4 SMNDC1
18 amyotrophic lateral sclerosis 1 32.9 VAPB SMN2 SMN1 NAIP IGHMBP2 DYNC1H1
19 tooth disease 31.8 TRPV4 PLEKHG5 IGHMBP2 DYNC1H1
20 charcot-marie-tooth disease 31.8 VAPB TRPV4 SMN2 SMN1 PLEKHG5 IGHMBP2
21 anterior horn cell disease 31.7 VRK1 UBA1 SMN2 SMN1 IGHMBP2
22 congenital contractures 31.7 VRK1 UBA1 TRIP4
23 amyotrophic lateral sclerosis 4, juvenile 31.3 VAPB IGHMBP2
24 genetic motor neuron disease 31.3 PLEKHG5 DYNC1H1
25 muscular disease 31.1 SMN2 SMN1 NAIP IGHMBP2 GEMIN2 BICD2
26 spinal muscular atrophy, x-linked 2 13.1
27 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 13.1
28 spinal muscular atrophy, late-onset, finkel type 13.0
29 scapuloperoneal spinal muscular atrophy 13.0
30 spinal muscular atrophy, distal, x-linked 3 13.0
31 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant 13.0
32 spinal muscular atrophy, distal, autosomal recessive, 3 12.9
33 spinal muscular atrophy with progressive myoclonic epilepsy 12.9
34 spinal muscular atrophy, distal, autosomal recessive, 4 12.9
35 spinal muscular atrophy with congenital bone fractures 1 12.9
36 spinal muscular atrophy, jokela type 12.9
37 spinal muscular atrophy, distal, autosomal recessive, 5 12.8
38 spinal muscular atrophy with congenital bone fractures 2 12.8
39 autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 12.8
40 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 12.7
41 autosomal dominant childhood-onset proximal spinal muscular atrophy 12.7
42 autosomal dominant adult-onset proximal spinal muscular atrophy 12.6
43 autosomal dominant proximal spinal muscular atrophy 12.6
44 spinal muscular atrophy with respiratory distress type 2 12.6
45 spinal muscular atrophy, facioscapulohumeral type 12.6
46 spinal muscular atrophy, segmental 12.6
47 spinal muscular atrophy-dandy-walker malformation-cataracts syndrome 12.5
48 spinal muscular atrophy with mental retardation 12.5
49 spinal muscular atrophy with microcephaly and mental subnormality 12.5
50 neuronopathy, distal hereditary motor, type va 12.5

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
Sources

Symptoms & Phenotypes for Spinal Muscular Atrophy

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UMLS symptoms related to Spinal Muscular Atrophy:


seizures, tremor, back pain, pain, headache, syncope, 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 10.12 VRK1
2 Decreased viability GR00221-A-2 10.12 VRK1
3 Decreased viability GR00221-A-4 10.12 VRK1
4 Decreased viability GR00240-S-1 10.12 ASAH1 SMN2
5 Decreased viability GR00301-A 10.12 VRK1
6 Decreased viability GR00381-A-1 10.12 ASAH1 GTF2H2 UBA1
7 Decreased viability GR00402-S-2 10.12 ASAH1 ATP7A BICD2 DDX20 DNAJB2 DYNC1H1
8 Decreased ionizing radiation sensitivity GR00232-A-1 9.7 DYNC1H1 GEMIN2 SMN1 TRIP4 TRPV4 UBA1
9 no effect GR00402-S-1 9.62 ASAH1 ATP7A BICD2 DDX20 DNAJB2 DYNC1H1

MGI Mouse Phenotypes related to Spinal Muscular Atrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 ATP7A DYNC1H1 IGHMBP2 PLEKHG5 SMN2 TRPV4
Sources

Drugs & Therapeutics for Spinal Muscular Atrophy

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

(show top 50) (show all 105)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
2
Acetaminophen Approved Phase 4 103-90-2 1983
3
Glutamic acid Approved, Nutraceutical Phase 4 56-86-0 33032
4 Neurotransmitter Agents Phase 4
5 Anticonvulsants Phase 4
6 Neuroprotective Agents Phase 4
7 Excitatory Amino Acid Antagonists Phase 4
8 Protective Agents Phase 4
9 Excitatory Amino Acids Phase 4
10 Excitatory Amino Acid Agonists Phase 4
11 Analgesics, Non-Narcotic Phase 4
12 Analgesics Phase 4
13 Antipyretics Phase 4
14
Serine Investigational, Nutraceutical Phase 4 56-45-1 5951
15
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
16
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
17 Tranquilizing Agents Phase 3
18 GABA Agents Phase 3
19 Antimanic Agents Phase 3
20 Psychotropic Drugs Phase 3
21
Methyltestosterone Approved Phase 2 58-18-4 6010
22
Leuprolide Approved, Investigational Phase 2 53714-56-0 3911 657181
23
Testosterone Approved, Experimental, Investigational Phase 2 58-22-0, 481-30-1 6013 10204
24
Testosterone undecanoate Approved, Investigational Phase 2 5949-44-0
25
Testosterone enanthate Approved Phase 2 315-37-7 9416
26
Levetiracetam Approved Phase 2 102767-28-2 441341
27
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
28
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
29
Amifampridine Approved, Investigational Phase 2 54-96-6 5918
30
4-Aminopyridine Approved Phase 1, Phase 2 504-24-5 1727
31
Tauroursodeoxycholic acid Experimental, Investigational Phase 2 14605-22-2 12443252
32
Taurochenodeoxycholic acid Experimental Phase 2 516-35-8 387316
33 Interleukin 1 Receptor Antagonist Protein Phase 2
34 Fertility Agents Phase 2
35 Anabolic Agents Phase 2
36 Hormone Antagonists Phase 2
37 Testosterone 17 beta-cypionate Phase 2
38 Androgens Phase 2
39 Antineoplastic Agents, Hormonal Phase 2
40 Hormones Phase 2
41 Pyridostigmine Bromide Phase 2 101-26-8
42 Cholinergic Agents Phase 2
43 Bromides Phase 2
44 Cholinesterase Inhibitors Phase 2
45 carnitine Phase 2
46 Anti-Infective Agents Phase 2
47 Nootropic Agents Phase 2
48 Gastrointestinal Agents Phase 2
49 Antiviral Agents Phase 2
50 Antioxidants Phase 2

Interventional clinical trials:

(show top 50) (show all 150)
# Name Status NCT ID Phase Drugs
1 Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission Completed NCT01018056 Phase 4 D-serine;Riluzole;Placebo
2 A Long-term Follow-up Study of Patients in the Clinical Trials for Spinal Muscular Atrophy Receiving AVXS-101 Recruiting NCT04042025 Phase 4
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 Randomized Placebo Controlled Trial of Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Aged 2-15 Years Unknown status NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
5 A Phase 3, Randomized, Double-blind, Sham-Procedure Controlled Study to Assess the Clinical Efficacy and Safety of ISIS 396443 Administered Intrathecally in Patients With Later-onset Spinal Muscular Atrophy Completed NCT02292537 Phase 3 Nusinersen
6 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
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 Randomized, Double-Blind, Placebo-Controlled Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
9 Multicentric, Randomized, Double-blind Study Versus Placebo, With Two Parallel Groups Treated to Evaluate the Efficacy and the Tolerance of Riluzole in Children and Young Adults (6 to 20 Years of Age) With SMA. (Type II and Type III) Completed NCT00774423 Phase 2, Phase 3 Riluzole
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 Recruiting NCT03837184 Phase 3
11 A Two Part Seamless, Open-label, Multicenter Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Infants With Type 1 Spinal Muscular Atrophy Active, not recruiting NCT02913482 Phase 2, Phase 3 Risdiplam
12 A Two Part Seamless, Multi-Center Randomized, Placebo-Controlled, Double-Blind Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Type 2 and 3 Spinal Muscular Atrophy Patients Active, not recruiting NCT02908685 Phase 2, Phase 3 Placebo;Risdiplam
13 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
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 European, 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 NCT03461289 Phase 3
16 Escalating Dose and Randomized, Controlled Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Not yet recruiting NCT04089566 Phase 2, Phase 3 Nusinersen
17 A Phase 3, Randomized, Double-Blind, Sham-Procedure Controlled Study to Assess the Clinical Efficacy and Safety of ISIS 396443 Administered Intrathecally in Patients With Infantile-onset Spinal Muscular Atrophy Terminated NCT02193074 Phase 3 nusinersen
18 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
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 Open Safety and Tolerability Trial to Evaluate a Subcutaneous Injection Solution of 100 mg of Anakinra in Combination With Riluzol in Amyotrophic Lateral Sclerosis Unknown status NCT01277315 Phase 2 Anakinra
21 Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease Completed NCT00004771 Phase 2 leuprolide;testosterone
22 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
23 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
24 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
25 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 (SMA) Completed NCT02644668 Phase 2 CK-2127107 150 mg;Placebo;CK-2127107 450 mg
26 Can Treatment With Human Growth Hormone Increase Strength in Spinal Muscular Atrophy Type II and III? Completed NCT00533221 Phase 2 somatotropin;Placebo
27 Prospective Controlled Trial of Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy (VALIANTSMA) Study Completed NCT00481013 Phase 2 Valproic Acid (VPA);Placebo
28 A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients Completed NCT00568698 Phase 1, Phase 2 Hydroxyurea;Placebo to match hydroxyurea
29 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)
30 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
31 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 Completed NCT02462759 Phase 2 Nusinersen
32 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
33 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
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 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
36 A Pilot Trial of Levetiracetam for Cramps, Spasticity and Neuroprotection in Motor Neuron Disease Completed NCT00324454 Phase 2
37 Effects of Power Mobility on the Development and Function of Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
38 Effect of Functional Exercise in Patients With Spinal and Bulbar Muscular Atrophy Completed NCT01369901 Phase 1, Phase 2
39 A Randomized, Double-blind Multicenter Pilot Study vs. Placebo for the Evaluation of Efficacy and Tolerability of Tauroursodeoxycholic Acid Administered by Oral Route as Add on Treatment in Patients Affected by Amyotrophic Lateral Sclerosis Completed NCT00877604 Phase 2 tauroursodeoxycholic acid (TUDCA);Placebo
40 An Open-Label Study to Investigate the Safety, Tolerability, and Pharmacokinetics/Pharmacodynamics of RO7034067 in Adult and Pediatric Patients With Spinal Muscular Atrophy Recruiting NCT03032172 Phase 2 Risdiplam
41 An Open-Label Study of Risdiplam in Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy Recruiting NCT03779334 Phase 2 Risdiplam
42 Phase 2 Active Treatment Study to Evaluate the Efficacy and Safety of SRK-015 in Patients With Later-Onset Spinal Muscular Atrophy (TOPAZ) Recruiting NCT03921528 Phase 2
43 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 Recruiting NCT03781479 Phase 2 Amifampridine Phosphate;Placebo Oral Tablet
44 A Pilot, Open-Label, Dose Response Study Investigating the Effect of Low-Dose Celecoxib on SMN2 in Patients With Spinal Muscular Atrophy (SMA) Recruiting NCT02876094 Phase 2 celecoxib
45 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
46 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
47 Autologous Purified Bone-Marrow-Derived Stem Cell Therapy for Motor Neuron Disease Active, not recruiting NCT03067857 Phase 1, Phase 2
48 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
49 A Single Dose Pharmaco-Diagnostic for Peripheral Nerve Continuity After Trauma Not yet recruiting NCT04026568 Phase 1, Phase 2 4-Aminopyridine;Placebo oral tablet
50 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

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

Cochrane evidence based reviews: muscular atrophy, spinal

Sources

Genetic Tests for Spinal Muscular Atrophy

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Genetic tests related to Spinal Muscular Atrophy:

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

Anatomical Context for Spinal Muscular Atrophy

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MalaCards organs/tissues related to Spinal Muscular Atrophy:

40
Testes, Spinal Cord, Bone, Skeletal Muscle, Heart, Lung, Brain
Sources

Publications for Spinal Muscular Atrophy

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Articles related to Spinal Muscular Atrophy:

(show top 50) (show all 4700)
# Title Authors PMID Year
1
Consensus statement for standard of care in spinal muscular atrophy. 61 24 6
17761659 2007
2
A positive modifier of spinal muscular atrophy in the SMN2 gene. 54 61 24
19716110 2009
3
ACOG committee opinion No. 432: spinal muscular atrophy. 61 6
19384151 2009
4
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. 54 61 24
17431882 2007
5
A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy. 54 61 24
11978761 2002
6
Spinal Muscular Atrophy 61 6
20301526 2000
7
A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. 54 61 24
9845364 1998
8
The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. 54 61 24
9323129 1997
9
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. 54 61 24
9199562 1997
10
Specific inhibition of myostatin activation is beneficial in mouse models of SMA therapy. 61 24
30481286 2019
11
Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps. 61 24
30221755 2019
12
Nusinersen: A Treatment for Spinal Muscular Atrophy. 61 52
30008228 2019
13
Astrocytes in Motor Neuron Diseases. 61 42
31583591 2019
14
New and developing therapies in spinal muscular atrophy. 61 52
29703692 2018
15
The role of sleep diagnostics and non-invasive ventilation in children with spinal muscular atrophy. 61 24
30396824 2018
16
Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy. 61 24
29380287 2018
17
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. 61 24
29305137 2018
18
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. 61 24
29433793 2018
19
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. 61 24
29290580 2018
20
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. 61 24
29614695 2018
21
Ambulatory function in spinal muscular atrophy: Age-related patterns of progression. 61 24
29944707 2018
22
Natural history of infantile-onset spinal muscular atrophy. 61 24
29149772 2017
23
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. 61 24
29091557 2017
24
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. 61 24
29091570 2017
25
Pregnancy and delivery in women with spinal muscular atrophy. 61 24
28102719 2017
26
Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening. 61 24
28711173 2017
27
Spinal muscular atrophy: A changing phenotype beyond the clinical trials. 61 24
28757001 2017
28
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. 61 24
28676062 2017
29
Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0-4. 61 24
28108522 2017
30
Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review. 61 24
26260993 2015
31
Observational study of spinal muscular atrophy type I and implications for clinical trials. 61 24
25080519 2014
32
Pharmacology of a central nervous system delivered 2'-O-methoxyethyl-modified survival of motor neuron splicing oligonucleotide in mice and nonhuman primates. 61 24
24784568 2014
33
An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy. 61 24
23788250 2014
34
Spinal muscular atrophy and the antiapoptotic role of survival of motor neuron (SMN) protein. 61 24
23315303 2013
35
A novel function for the survival motoneuron protein as a translational regulator. 61 24
23136128 2013
36
Glucose metabolism and pancreatic defects in spinal muscular atrophy. 61 24
22926856 2012
37
Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy. 61 24
22424789 2012
38
Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients. 61 24
22459654 2012
39
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. 61 24
21811307 2012
40
Early treatment of scoliosis with growing rods in children with severe spinal muscular atrophy: a preliminary report. 61 24
21572284 2011
41
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. 61 24
18440926 2008
42
The changing natural history of spinal muscular atrophy type 1. 61 24
17998484 2007
43
Medical considerations of long-term survival of Werdnig-Hoffmann disease. 61 24
17449979 2007
44
Noninvasive ventilation in children with spinal muscular atrophy types 1 and 2. 61 24
17314706 2007
45
Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy. 61 24
17049859 2006
46
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification. 61 24
16865356 2006
47
Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. 61 24
15378550 2004
48
Use of the mechanical in-exsufflator in pediatric patients with neuromuscular disease and impaired cough. 61 24
15078753 2004
49
Multiplex nested PCR for preimplantation genetic diagnosis of spinal muscular atrophy. 61 24
14764971 2004
50
Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III. 61 24
14629498 2003
Sources

Variations for Spinal Muscular Atrophy

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ClinVar genetic disease variations for Spinal Muscular Atrophy:

6 (show top 50) (show all 105) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DYNC1H1 NM_001376.5(DYNC1H1):c.791G>T (p.Arg264Leu)SNV Pathogenic 162033 rs713993043 14:102446717-102446717 14:101980380-101980380
2 VRK1 NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)SNV Pathogenic 7497 rs137853063 14:97342370-97342370 14:96876033-96876033
3 BICD2 NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu)SNV Pathogenic 55857 rs398123028 9:95491439-95491439 9:92729157-92729157
4 SMN1 NC_000005.9:g.(?_70247748)_(70247838_?)deldeletion Pathogenic 457356 5:70951921-70952011
5 SMN1 NM_000344.3(SMN1):c.835-21_3+17deldeletion Pathogenic 571461 rs1561503058 5:70247747-70247838 5:70951920-70952011
6 SMN1 NC_000005.9:g.(?_70247768)_(70247818_?)deldeletion Pathogenic 583423 5:70247768-70247818 5:70951941-70951991
7 SMN1 NM_000344.3(SMN1):c.835-1G>ASNV Pathogenic 632989 rs1217001154 5:70247767-70247767 5:70951940-70951940
8 SMN1 NC_000005.9:g.(?_70247758)_(70247828_?)deldeletion Pathogenic 651822 5:70247758-70247828 5:70951931-70952001
9 SMN1 NM_000344.3(SMN1):c.835-2A>GSNV Pathogenic/Likely pathogenic 632985 rs141760116 5:70247766-70247766 5:70951939-70951939
10 SMN1 NM_000344.3(SMN1):c.835-2A>TSNV Likely pathogenic 632984 rs141760116 5:70247766-70247766 5:70951939-70951939
11 SMN1 NM_000344.3(SMN1):c.855dup (p.Glu286fs)duplication Likely pathogenic 495832 rs1554082383 5:70247783-70247784 5:70951956-70951957
12 SMN1 NM_000344.3(SMN1):c.835-3C>TSNV Conflicting interpretations of pathogenicity 495829 rs772466166 5:70247765-70247765 5:70951938-70951938
13 IGHMBP2 NM_002180.2(IGHMBP2):c.*6C>TSNV Conflicting interpretations of pathogenicity 305866 rs117995705 11:68707205-68707205 11:68939737-68939737
14 IGHMBP2 NM_002180.2(IGHMBP2):c.2532G>T (p.Ala844=)SNV Conflicting interpretations of pathogenicity 305856 rs2228207 11:68704480-68704480 11:68937012-68937012
15 IGHMBP2 NM_002180.2(IGHMBP2):c.2612-15G>ASNV Conflicting interpretations of pathogenicity 305857 rs372230504 11:68705635-68705635 11:68938167-68938167
16 SMN1 NM_000344.3(SMN1):c.419A>T (p.Asp140Val)SNV Conflicting interpretations of pathogenicity 448428 rs1554081968 5:70238330-70238330 5:70942503-70942503
17 IGHMBP2 NM_002180.2(IGHMBP2):c.256+9G>ASNV Conflicting interpretations of pathogenicity 137568 rs118015540 11:68673715-68673715 11:68906247-68906247
18 IGHMBP2 NM_002180.2(IGHMBP2):c.548-10T>GSNV Conflicting interpretations of pathogenicity 235360 rs139207271 11:68678898-68678898 11:68911430-68911430
19 IGHMBP2 NM_002180.2(IGHMBP2):c.2360C>T (p.Pro787Leu)SNV Conflicting interpretations of pathogenicity 245872 rs141594765 11:68704308-68704308 11:68936840-68936840
20 IGHMBP2 NM_002180.2(IGHMBP2):c.2674A>G (p.Lys892Glu)SNV Conflicting interpretations of pathogenicity 245869 rs201970407 11:68705712-68705712 11:68938244-68938244
21 IGHMBP2 NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln)SNV Conflicting interpretations of pathogenicity 246570 rs149824485 11:68707054-68707054 11:68939586-68939586
22 IGHMBP2 NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val)SNV Conflicting interpretations of pathogenicity 234315 rs35193202 11:68696783-68696783 11:68929315-68929315
23 IGHMBP2 NM_002180.2(IGHMBP2):c.2872A>G (p.Asn958Asp)SNV Conflicting interpretations of pathogenicity 234907 rs141873613 11:68707089-68707089 11:68939621-68939621
24 IGHMBP2 NM_002180.2(IGHMBP2):c.2793C>T (p.Gly931=)SNV Conflicting interpretations of pathogenicity 194495 rs139926138 11:68707010-68707010 11:68939542-68939542
25 DYNC1H1 NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)SNV Conflicting interpretations of pathogenicity 197195 rs794727634 14:102446289-102446289 14:101979952-101979952
26 IGHMBP2 NM_002180.2(IGHMBP2):c.741C>T (p.Ala247=)SNV Conflicting interpretations of pathogenicity 198145 rs76707931 11:68682320-68682320 11:68914852-68914852
27 IGHMBP2 NM_002180.2(IGHMBP2):c.1104C>T (p.Tyr368=)SNV Conflicting interpretations of pathogenicity 198778 rs148157556 11:68696694-68696694 11:68929226-68929226
28 IGHMBP2 NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu)SNV Conflicting interpretations of pathogenicity 258557 rs117061430 11:68673601-68673601 11:68906133-68906133
29 IGHMBP2 NM_002180.2(IGHMBP2):c.180C>T (p.Tyr60=)SNV Conflicting interpretations of pathogenicity 258562 rs34617762 11:68673630-68673630 11:68906162-68906162
30 IGHMBP2 NM_002180.2(IGHMBP2):c.1827G>A (p.Ala609=)SNV Conflicting interpretations of pathogenicity 258564 rs541245852 11:68703775-68703775 11:68936307-68936307
31 IGHMBP2 NM_002180.2(IGHMBP2):c.1939G>A (p.Val647Ile)SNV Conflicting interpretations of pathogenicity 258565 rs77822399 11:68703887-68703887 11:68936419-68936419
32 IGHMBP2 NM_002180.2(IGHMBP2):c.1538-8C>GSNV Conflicting interpretations of pathogenicity 258559 rs115320302 11:68701924-68701924 11:68934456-68934456
33 IGHMBP2 NM_002180.2(IGHMBP2):c.1060+8G>TSNV Conflicting interpretations of pathogenicity 284364 rs201147313 11:68685359-68685359 11:68917891-68917891
34 IGHMBP2 NM_002180.2(IGHMBP2):c.2467C>T (p.Arg823Cys)SNV Conflicting interpretations of pathogenicity 305855 rs192806153 11:68704415-68704415 11:68936947-68936947
35 IGHMBP2 NM_002180.2(IGHMBP2):c.1125C>T (p.Asp375=)SNV Conflicting interpretations of pathogenicity 305842 rs140296831 11:68696715-68696715 11:68929247-68929247
36 IGHMBP2 NM_002180.2(IGHMBP2):c.1290C>T (p.Tyr430=)SNV Conflicting interpretations of pathogenicity 305844 rs140654955 11:68700821-68700821 11:68933353-68933353
37 IGHMBP2 NM_002180.2(IGHMBP2):c.2883G>A (p.Leu961=)SNV Conflicting interpretations of pathogenicity 305864 rs3750977 11:68707100-68707100 11:68939632-68939632
38 IGHMBP2 NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val)SNV Conflicting interpretations of pathogenicity 305830 rs199586231 11:68673553-68673553 11:68906085-68906085
39 IGHMBP2 NM_002180.2(IGHMBP2):c.714T>C (p.Val238=)SNV Conflicting interpretations of pathogenicity 305835 rs755582766 11:68682293-68682293 11:68914825-68914825
40 IGHMBP2 NM_002180.2(IGHMBP2):c.2355G>A (p.Arg785=)SNV Conflicting interpretations of pathogenicity 305853 rs147954772 11:68704303-68704303 11:68936835-68936835
41 IGHMBP2 NM_002180.2(IGHMBP2):c.2856C>T (p.Ala952=)SNV Conflicting interpretations of pathogenicity 305863 rs759627672 11:68707073-68707073 11:68939605-68939605
42 IGHMBP2 NM_002180.2(IGHMBP2):c.366C>T (p.His122=)SNV Conflicting interpretations of pathogenicity 305832 rs144401213 11:68675722-68675722 11:68908254-68908254
43 IGHMBP2 NM_002180.2(IGHMBP2):c.726C>G (p.Ala242=)SNV Conflicting interpretations of pathogenicity 305837 rs76690064 11:68682305-68682305 11:68914837-68914837
44 IGHMBP2 NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu)SNV Conflicting interpretations of pathogenicity 305846 rs61731907 11:68701266-68701266 11:68933798-68933798
45 IGHMBP2 NM_002180.2(IGHMBP2):c.1874C>T (p.Thr625Ile)SNV Uncertain significance 305848 rs886048605 11:68703822-68703822 11:68936354-68936354
46 IGHMBP2 NM_002180.2(IGHMBP2):c.2224A>G (p.Met742Val)SNV Uncertain significance 305851 rs754473710 11:68704172-68704172 11:68936704-68936704
47 IGHMBP2 NM_002180.2(IGHMBP2):c.2361G>A (p.Pro787=)SNV Uncertain significance 305854 rs187924099 11:68704309-68704309 11:68936841-68936841
48 IGHMBP2 NM_002180.2(IGHMBP2):c.963T>C (p.Asn321=)SNV Uncertain significance 305840 rs771900045 11:68685254-68685254 11:68917786-68917786
49 IGHMBP2 NM_002180.2(IGHMBP2):c.696G>T (p.Val232=)SNV Uncertain significance 305834 rs748899869 11:68679056-68679056 11:68911588-68911588
50 IGHMBP2 NM_002180.2(IGHMBP2):c.726C>A (p.Ala242=)SNV Uncertain significance 305836 rs76690064 11:68682305-68682305 11:68914837-68914837

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 SMN 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 SMA3 Spinal muscular atrophy
13 201333 5 68400000 73300000 Gain or loss SMA4 Spinal muscular atrophy
14 201334 5 68400000 73300000 Gain or loss SMN1 Spinal muscular atrophy
15 201335 5 68400000 73300000 Copy number SMA3 Spinal muscular atrophy
16 201336 5 68400000 73300000 Copy number SMA3 Spinal muscular atrophy
17 201337 5 68400000 73300000 Copy number SMA4 Spinal muscular atrophy
18 201338 5 68400000 73300000 Copy number SMA4 Spinal muscular atrophy
19 201473 5 69345349 70249769 Copy number SMN 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
Sources

Expression for Spinal Muscular Atrophy

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

Pathways for Spinal Muscular Atrophy

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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
RNA transport 36
11.14 SMN2 SMN1 GEMIN2 DDX20
2
COPI-independent Golgi-to-ER retrograde traffic 65
10.4 DYNC1H1 BICD2
Sources

GO Terms for Spinal Muscular Atrophy

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.22 VRK1 UBA1 TRIP4 SMN2 SMN1 SERF1A
2 nucleus GO:0005634 10.2 VRK1 UBA1 TRIP4 SMNDC1 SMN2 SMN1
3 cytoplasm GO:0005737 10.19 VRK1 VAPB UBA1 TRIP4 SMNDC1 SMN2
4 nucleoplasm GO:0005654 10.18 VRK1 UBA1 TRIP4 SMNDC1 SMN2 SMN1
5 nuclear body GO:0016604 9.73 TRIP4 SMN2 SMN1 GEMIN2
6 perikaryon GO:0043204 9.63 SMN2 SMN1 ATP7A
7 Cajal body GO:0015030 9.54 SMNDC1 SMN2 SMN1
8 SMN-Sm protein complex GO:0034719 9.46 SMN2 SMN1 GEMIN2 DDX20
9 Gemini of coiled bodies GO:0097504 9.26 SMN2 SMN1 GEMIN2 DDX20
10 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 9.7 UBA1 SMNDC1 SMN2 SMN1 IGHMBP2 DYNC1H1
2 protein binding GO:0005515 9.58 VRK1 VAPB UBA1 TRPV4 TRIP4 SMNDC1
3 ATP binding GO:0005524 9.56 VRK1 UBA1 TRPV4 NAIP IGHMBP2 DYNC1H1
Sources

Sources for Spinal Muscular Atrophy

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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