Spinal Muscular Atrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SPN046 MIFTS: 66	Spinal Muscular Atrophy 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 ³⁹ ¹² ⁷⁷ ²⁵ ⁵⁴ ²⁶ ⁵⁵ ³⁸ ³⁰ ⁶ ⁴⁴ ¹⁵ ¹⁷ ⁷⁴

Sma ⁵⁴ ²⁶

Hereditary Motor Neuronopathy ⁷⁴

Progressive Muscular Atrophy ⁷⁴

Spinal Muscle Degeneration ²⁶

Atrophy, Muscular, Spinal ⁴¹

Muscular Atrophy, Spinal ⁴⁵

Muscular Atrophy Spinal ⁵⁶

Spinal Muscle Wasting ²⁶

Spinal Amyotrophies ²⁶

Sma-Associated Sma ²⁶

Spinal Amyotrophy ²⁶

Proximal Sma ²⁶

5q Sma ²⁶

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Respiratory diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Spinal muscular atrophy and related syndromes

Spinal muscular atrophy, unspecified

External Ids:

Disease Ontology ¹² DOID:12377

KEGG ³⁸ H00455

ICD9CM ³⁶ 335.1 335.10

MeSH ⁴⁵ D009134

NCIt ⁵¹ C85075

SNOMED-CT ⁶⁹ 5262007

ICD10 ³⁴ G12.9

EFO ¹⁷ EFO_0008525

UMLS ⁷⁴ C0026847 C0917981 C3661519

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Summaries for Spinal Muscular Atrophy

NIH Rare Diseases : ⁵⁴ 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.

MalaCards based summary : Spinal Muscular Atrophy, also known as sma, is related to spinal muscular atrophy, distal, autosomal recessive, 1 and spinal muscular atrophy, type iv, and has symptoms including seizures, tremor and back pain. An important gene associated with Spinal Muscular Atrophy is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways/superpathways are RNA transport and COPI-independent Golgi-to-ER retrograde traffic. The drugs Acetaminophen and Peripheral Nervous System Agents have been mentioned in the context of this disorder. Affiliated tissues include testes, spinal cord and skeletal muscle, and related phenotypes are no effect and Decreased ionizing radiation sensitivity

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.

Genetics Home Reference : ²⁶ 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.

MedlinePlus : ⁴⁴ 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 : ⁵⁵ 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.

Wikipedia : ⁷⁷ Spinal muscular atrophy (SMA) is a rare neuromuscular disorder characterised by loss of lower motor... more...

GeneReviews: NBK1352

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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
Juvenile Spinal Muscular Atrophy	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 309)

#	Related Disease	Score	Top Affiliating Genes
1	spinal muscular atrophy, distal, autosomal recessive, 1	35.2	IGHMBP2 SMN1 SMN2
2	spinal muscular atrophy, type iv	35.2	SMN1 SMN2 VAPB
3	spinal muscular atrophy, type ii	35.1	NAIP SMN1 SMN2
4	spinal muscular atrophy, type i	35.0	IGHMBP2 NAIP SMN1 SMN2
5	spinal muscular atrophy, type iii	35.0	NAIP SMN1 SMN2
6	survival motor neuron spinal muscular atrophy	34.8	IGHMBP2 NAIP SMN1 SMN2
7	juvenile spinal muscular atrophy	34.8	NAIP SMN1 SMN2 VAPB
8	spinal muscular atrophy with lower extremity predominance	34.7	BICD2 DYNC1H1
9	proximal spinal muscular atrophy	34.7	BICD2 NAIP SMN1 SMN2 SMNDC1
10	prenatal-onset spinal muscular atrophy with congenital bone fractures	34.0	ASCC1 TRIP4
11	progressive muscular atrophy	33.8	SMN1 SMN2 TRPV4
12	motor neuron disease	33.1	DYNC1H1 NAIP SMN1 SMN2 VAPB
13	neuromuscular disease	32.8	NAIP SMN1 SMN2 TRPV4
14	amyotrophic lateral sclerosis 1	32.0	DNAJB2 NAIP SMN1 SMN2 VAPB
15	spinal disease	31.9	SMN1 SMN2
16	muscular atrophy	31.4	ASAH1 ASCC1 ATP7A BICD2 DDX20 DNAJB2
17	tooth disease	30.9	DYNC1H1 IGHMBP2 PLEKHG5 TRPV4
18	charcot-marie-tooth disease	30.8	DNAJB2 DYNC1H1 IGHMBP2 PLEKHG5 TRPV4
19	congenital contractures	30.3	ASCC1 TRIP4 UBA1
20	anterior horn cell disease	30.3	IGHMBP2 SMN1 SMN2 UBA1
21	spinal muscular atrophy, x-linked 2	13.0
22	spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	13.0
23	spinal muscular atrophy, late-onset, finkel type	12.9
24	scapuloperoneal spinal muscular atrophy	12.9
25	spinal muscular atrophy, distal, x-linked 3	12.8
26	spinal muscular atrophy, distal, autosomal recessive, 2	12.8
27	spinal muscular atrophy with progressive myoclonic epilepsy	12.8
28	spinal muscular atrophy, distal, autosomal recessive, 4	12.8
29	spinal muscular atrophy, jokela type	12.7
30	spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant	12.7
31	spinal muscular atrophy, type i, with congenital bone fractures	12.7
32	autosomal dominant spinal muscular atrophy, lower extremity-predominant 2	12.7
33	spinal muscular atrophy, distal, autosomal recessive, 5	12.7
34	spinal muscular atrophy, distal, autosomal recessive, 3	12.7
35	spinal muscular atrophy with congenital bone fractures 2	12.7
36	spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant	12.6
37	spinal muscular atrophy with respiratory distress type 2	12.5
38	spinal muscular atrophy, segmental	12.5
39	autosomal dominant childhood-onset proximal spinal muscular atrophy	12.5
40	spinal muscular atrophy-dandy-walker malformation-cataracts syndrome	12.4
41	spinal muscular atrophy with mental retardation	12.4
42	spinal muscular atrophy, facioscapulohumeral type	12.3
43	spinal muscular atrophy, ryukyuan type	12.3
44	adult progressive spinal muscular atrophy aran duchenne type	12.3
45	spinal muscular atrophy with microcephaly and mental subnormality	12.3
46	arthrogryposis spinal muscular atrophy	12.3
47	congenital benign spinal muscular atrophy dominant	12.3
48	pontocerebellar hypoplasia, type 1a	12.1
49	neuronopathy, distal hereditary motor, type viii	12.1
50	distal hereditary motor neuropathy, type v	12.1

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:

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Symptoms & Phenotypes for Spinal Muscular Atrophy

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:

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	9.92	ASAH1 ASCC1 ATP7A BICD2 DDX20 DNAJB2
2	Decreased ionizing radiation sensitivity	GR00232-A-1	9.5	DYNC1H1 GEMIN2 SMN1 TRIP4 TRPV4 UBA1

MGI Mouse Phenotypes related to Spinal Muscular Atrophy:

⁴⁷

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

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Drugs & Therapeutics for Spinal Muscular Atrophy

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

(show top 50) (show all 78)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Acetaminophen

Approved

Phase 4

103-90-2

1983

Peripheral Nervous System Agents

Phase 4,Phase 2

Antipyretics

Phase 4

Analgesics

Phase 4,Phase 2

Analgesics, Non-Narcotic

Phase 4,Phase 2

Valproic Acid

Approved, Investigational

Phase 3,Phase 2,Phase 1

99-66-1

3121

Hydroxyurea

Approved

Phase 2, Phase 3,Phase 1

127-07-1

3657

Riluzole

Approved, Investigational

Phase 2, Phase 3

1744-22-5

5070

4-Aminopyridine

Approved

Phase 2, Phase 3

504-24-5

1727

Tranquilizing Agents

Phase 3,Phase 2,Phase 1

Anticonvulsants

Phase 3,Phase 2,Phase 1

GABA Agents

Phase 3,Phase 2,Phase 1

Neurotransmitter Agents

Phase 3,Phase 2,Phase 1

Psychotropic Drugs

Phase 3,Phase 2,Phase 1

Antimanic Agents

Phase 3,Phase 2,Phase 1

Central Nervous System Depressants

Phase 3,Phase 2,Phase 1

Pharmaceutical Solutions

Phase 3,Phase 2,Phase 1

Nucleic Acid Synthesis Inhibitors

Phase 2, Phase 3,Phase 1

Excitatory Amino Acid Antagonists

Phase 2, Phase 3

Protective Agents

Phase 2, Phase 3

Excitatory Amino Acids

Phase 2, Phase 3

Neuroprotective Agents

Phase 2, Phase 3

Potassium Channel Blockers

Phase 2, Phase 3

Testosterone undecanoate

Approved, Investigational

Phase 2

5949-44-0

Methyltestosterone

Approved

Phase 2

58-18-4

6010

Leuprolide

Approved, Investigational

Phase 2

53714-56-0

657181 3911

Testosterone

Approved, Experimental, Investigational

Phase 2

58-22-0, 481-30-1

10204 6013

Testosterone enanthate

Approved

Phase 2

315-37-7

9416

Levetiracetam

Approved, Investigational

Phase 2

102767-28-2

441341

Amifampridine

Approved, Investigational

Phase 2

54-96-6

Celecoxib

Approved, Investigational

Phase 2

169590-42-5

2662

Cholinesterase Inhibitors

Phase 2

Bromides

Phase 2

Pyridostigmine Bromide

Phase 2

101-26-8

Cholinergic Agents

Phase 2

Antirheumatic Agents

Phase 2

Interleukin 1 Receptor Antagonist Protein

Phase 2

carnitine

Phase 2,Phase 1

4-phenylbutyric acid

Phase 1, Phase 2,Phase 2

Hormones

Phase 2,Phase 1

Androgens

Phase 2

Testosterone 17 beta-cypionate

Phase 2

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 2,Phase 1

Fertility Agents

Phase 2

Antineoplastic Agents, Hormonal

Phase 2

Hormone Antagonists

Phase 2,Phase 1

Anabolic Agents

Phase 2

Nootropic Agents

Phase 2

Antibodies, Monoclonal

Phase 2

Immunoglobulin G

Phase 2

Interventional clinical trials:

(show top 50) (show all 125)

#	Name	Status	NCT ID	Phase	Drugs
1	Paracetamol Study in Patients With Low Muscle Mass	Recruiting	NCT03648658	Phase 4	Paracetamol 120Mg/5mL Oral Suspension
2	Valproate and Levocarnitine in Children With Spinal Muscular Atrophy	Unknown status	NCT01671384	Phase 3	Valproate, Levocarnitine;Placebo
3	A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Participants With Later-onset Spinal Muscular Atrophy (SMA)	Completed	NCT02292537	Phase 3	Nusinersen
4	A Trial of Hydroxyurea in Spinal Muscular Atrophy	Completed	NCT00485511	Phase 2, Phase 3	Hydroxyurea
5	Short and Long Term Treatment With 4-AP in Ambulatory SMA Patients	Completed	NCT01645787	Phase 2, Phase 3	4-aminopyridine;Placebo
6	Study to Evaluate the Efficacy of Riluzole in Children and Young Adults With Spinal Muscular Atrophy (SMA)	Completed	NCT00774423	Phase 2, Phase 3	Riluzole
7	Pre-Symptomatic Study of Intravenous AVXS-101 in Spinal Muscular Atrophy (SMA) for Patients With Multiple Copies of SMN2	Recruiting	NCT03505099	Phase 3
8	Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1	Recruiting	NCT03461289	Phase 3
9	A Study for Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in Nusinersen (ISIS 396443) Investigational Studies.	Active, not recruiting	NCT02594124	Phase 3	nusinersen
10	Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1	Active, not recruiting	NCT03306277	Phase 3
11	Investigate Safety, Tolerability, PK, PD and Efficacy of Risdiplam (RO7034067) in Infants With Type1 Spinal Muscular Atrophy	Active, not recruiting	NCT02913482	Phase 2, Phase 3	Risdiplam
12	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of Risdiplam (RO7034067) in Type 2 and 3 Spinal Muscular Atrophy (SMA) Participants	Active, not recruiting	NCT02908685	Phase 2, Phase 3	Placebo;Risdiplam
13	Single-Dose Gene Replacement Therapy Using for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies	Not yet recruiting	NCT03837184	Phase 3
14	A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy	Terminated	NCT02193074	Phase 3	nusinersen
15	Safety and Efficacy Study of Pyridostigmine on Patients With Spinal Muscular Atrophy Type 3	Unknown status	NCT02227823	Phase 2	Pyridostigmine Bromide
16	A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients	Unknown status	NCT00568802	Phase 1, Phase 2	Hydroxyurea
17	Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman Patients	Unknown status	NCT02855112	Phase 1, Phase 2
18	Safety and Tolerability of Anakinra in Combination With Riluzol in Amyotrophic Lateral Sclerosis	Unknown status	NCT01277315	Phase 2	Anakinra
19	A Study of CK-2127107 in Patients With Spinal Muscular Atrophy	Completed	NCT02644668	Phase 2	CK-2127107 150 mg;Placebo;CK-2127107 450 mg
20	Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy	Completed	NCT00481013	Phase 2	Valproic Acid (VPA);Placebo
21	Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy	Completed	NCT00227266	Phase 2	Valproic Acid and Levocarnitine;Placebo
22	Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy	Completed	NCT00528268	Phase 1, Phase 2	Sodium phenylbutyrate (NaPB)
23	CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type I	Completed	NCT00661453	Phase 1, Phase 2	Valproic Acid and Levocarnitine
24	A Study to Assess the Efficacy, Safety and Pharmacokinetics of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy (SMA)	Completed	NCT01839656	Phase 2	nusinersen
25	An Open-label Safety, Tolerability and Dose-Range Finding Study of Multiple Doses of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy	Completed	NCT01703988	Phase 1, Phase 2	Nusinersen
26	A Study to Assess the Safety and Tolerability of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA).	Completed	NCT02462759	Phase 2	Nusinersen
27	A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients	Completed	NCT00568698	Phase 1, Phase 2	Hydroxyurea
28	A Study to Evaluate Long Term Safety, Tolerability, and Effectiveness of Olesoxime in Patients With Spinal Muscular Atrophy (SMA)	Completed	NCT02628743	Phase 2	Olesoxime
29	SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4	Completed	NCT02941328	Phase 2	Pyridostigmine;Placebo
30	Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Years SMA Patients.	Completed	NCT01302600	Phase 2	Olesoxime;Placebo
31	Pilot Study of Growth Hormon to Treat SMA Typ II and III	Completed	NCT00533221	Phase 2	somatotropin;Placebo
32	Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease	Completed	NCT00004771	Phase 2	leuprolide;testosterone
33	Levetiracetam for Cramps, Spasticity and Neuroprotection in Motor Neuron Disease	Completed	NCT00324454	Phase 2
34	Effects of Power Mobility on Young Children With Severe Motor Impairments	Completed	NCT01028833	Phase 2
35	An Open Label Study of LMI070 (Branaplam) in Type 1 Spinal Muscular Atrophy (SMA)	Recruiting	NCT02268552	Phase 1, Phase 2	branaplam
36	A Study of Risdiplam (RO7034067) in Adult and Pediatric Participants With Spinal Muscular Atrophy	Recruiting	NCT03032172	Phase 2	Risdiplam
37	An Active Treatment Study of SRK-015 in Patients With Type 2 or Type 3 Spinal Muscular Atrophy	Recruiting	NCT03921528	Phase 2
38	Controlled Trial to Evaluate Amifampridine Phosphate in Spinal Muscular Atrophy Type 3 Patients	Recruiting	NCT03781479	Phase 2	Amifampridine Phosphate;Placebo Oral Tablet
39	A Study of Risdiplam in Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy	Recruiting	NCT03779334	Phase 2	Risdiplam
40	A Study of Multiple Doses of Nusinersen (ISIS 396443) Delivered to Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy	Active, not recruiting	NCT02386553	Phase 2	Nusinersen
41	Autologous Bone Marrow-Derived Stem Cell Therapy for Motor Neuron Disease	Active, not recruiting	NCT03067857	Phase 1, Phase 2
42	Long Term Safety of Amifampridine Phosphate in Spinal Muscular Atrophy 3	Enrolling by invitation	NCT03819660	Phase 2	Amifampridine Phosphate 10 MG Oral Tablet
43	Effect of Low-Dose Celecoxib on SMN2 in Patients With Spinal Muscular Atrophy	Not yet recruiting	NCT02876094	Phase 2	celecoxib
44	Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Type I	Terminated	NCT00439218	Phase 1, Phase 2	sodium phenylbutyrate
45	Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Types II or III	Terminated	NCT00439569	Phase 1, Phase 2	sodium phenylbutyrate
46	A Study to Assess FLX-787 in Subjects With Motor Neuron Disease Experiencing Muscle Cramps.	Terminated	NCT03196375	Phase 2	FLX-787-ODT (orally disintegrating tablet);Placebo ODT
47	Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1	Completed	NCT02122952	Phase 1
48	An Open-label Safety and Tolerability Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in ISIS 396443-CS2 (NCT01703988) or ISIS 396443-CS10 (NCT01780246)	Completed	NCT02052791	Phase 1	nusinersen
49	An Open-label Safety and Tolerability Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy Who Previously Participated in ISIS 396443-CS1 (NCT01494701)	Completed	NCT01780246	Phase 1	nusinersen
50	An Open-label Safety, Tolerability, and Dose-range Finding Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA)	Completed	NCT01494701	Phase 1	nusinersen

Search NIH Clinical Center for Spinal Muscular Atrophy

Cell-based therapeutics:

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

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Genetic Tests for Spinal Muscular Atrophy

Genetic tests related to Spinal Muscular Atrophy:

#	Genetic test	Affiliating Genes
1	Spinal Muscular Atrophy ³⁰	GEMIN2 SMNDC1

Sources

Anatomical Context for Spinal Muscular Atrophy

MalaCards organs/tissues related to Spinal Muscular Atrophy:

⁴²

Testes, Spinal Cord, Skeletal Muscle, Bone, Brain, Tongue, Heart

Sources

Publications for Spinal Muscular Atrophy

Articles related to Spinal Muscular Atrophy:

(show top 50) (show all 3112)

#	Title	Authors	Year
1	A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1. ( 30291339 )	Ame van der Beek N...B?hin A	2019
2	Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis. ( 31041394 )	Velilla J...Gupta VA	2019
3	Nusinersen for spinal muscular atrophy. ( 31048944 )		2019
4	Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors. ( 31053787 )	Serra-Juhe C...Tizzano EF	2019
5	Evaluating Benefit-Risk Decision-making in Spinal Muscular Atrophy: A first-Ever Study to Assess Risk Tolerance in the SMA Patient Community. ( 31056304 )	Cruz R...Jarecki J	2019
6	Spinal Muscular Atrophy and Common Therapeutic Advances. ( 31060440 )	Bozorg Qomi S...Mojarrad M	2019
7	Interaction between alpha-COP and SMN ameliorates disease phenotype in a mouse model of spinal muscular atrophy. ( 31060774 )	Custer SK...Androphy EJ	2019
8	Long-term benefits of nusinersen in later-onset spinal muscular atrophy. ( 31065075 )	Fyfe I	2019
9	Nusinersen: A Novel Antisense Oligonucleotide for the Treatment of Spinal Muscular Atrophy. ( 31093018 )	Neil EE...Bisaccia EK	2019
10	The Protective Effects of Levetiracetam on a Human iPSCs-Derived Spinal Muscular Atrophy Model. ( 31102025 )	Ando S...Hara H	2019
11	Cost-effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients. ( 31105909 )	Malone DC...Dabbous O	2019
12	Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps. ( 31107518 )	Baker M...Howell RR	2019
13	The effect of two different aerobic training modalities in a child with spinal muscular atrophy type II: a case report. ( 31111020 )	Bulut N...Karaduman A	2019
14	Calpain Inhibition Increases SMN Protein in Spinal Cord Motoneurons and Ameliorates the Spinal Muscular Atrophy Phenotype in Mice. ( 30327977 )	de la Fuente S...Soler RM	2019
15	Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II. ( 30340076 )	Smith G...Albayram MS	2019
16	Bereaved Parents More Satisfied With the Care Given to Their Child With Severe Spinal Muscular Atrophy Than Nonbereaved. ( 30518279 )	Hjorth E...L?vgren M	2019
17	Motor Unit Number Index (MUNIX) of hand muscles is a disease biomarker for adult spinal muscular atrophy. ( 30528741 )	G?nther R...Hermann A	2019
18	Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol. ( 30593463 )	Tiziano FD...Morandi L	2019
19	A novel mutation in VRK1 associated with distal spinal muscular atrophy. ( 30617279 )	Li N...Peng R	2019
20	Parents' Experiences of Information and Decision Making in the Care of Their Child With Severe Spinal Muscular Atrophy: A Population Survey. ( 30642225 )	Beernaert K...Kreicbergs U	2019
21	Anthropometric measurement standardization for a multicenter nutrition survey in children with spinal muscular atrophy. ( 30647441 )	Bertoli S...Battezzati A	2019
22	Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons. ( 30649277 )	Rizzo F...Corti S	2019
23	Novel challenges in spinal muscular atrophy - How to screen and whom to treat? ( 30656198 )	Saffari A...Ziegler A	2019
24	Generation of two spinal muscular atrophy (SMA) type I patient-derived induced pluripotent stem cell (iPSC) lines and two SMA type II patient-derived iPSC lines. ( 30660867 )	Valetdinova KR...Zakian SM	2019
25	SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy. ( 30665421 )	Pechmann A...Kirschner J	2019
26	A SMN2 Splicing Modifier Rescues the Disease Phenotypes in an In Vitro Human Spinal Muscular Atrophy Model. ( 30667343 )	Son YS...Son MY	2019
27	Revised upper limb module for spinal muscular atrophy: 12 month changes. ( 30677148 )	Pera MC...iSMAC Consortium Group	2019
28	Psychological well-being in adults with spinal muscular atrophy: the contribution of participation and psychological needs. ( 30696284 )	Fischer MJ...Schr?der CD	2019
29	Cost Effectiveness of Nusinersen in the Treatment of Patients with Infantile-Onset and Later-Onset Spinal Muscular Atrophy in Sweden. ( 30714083 )	Zuluaga-Sanchez S...Lloyd A	2019
30	Impairment of oligodendrocyte lineages in spinal muscular atrophy model systems. ( 30724851 )	Ohuchi K...Hara H	2019
31	Reliability of four tests to assess body posture and the range of selected movements in individuals with spinal muscular atrophy. ( 30732590 )	St?pie? A...St?powska J	2019
32	Intraperitoneal delivery of a novel drug-like compound improves disease severity in severe and intermediate mouse models of Spinal Muscular Atrophy. ( 30733501 )	Osman EY...Androphy EJ	2019
33	Assessment of fatigability in patients with spinal muscular atrophy: development and content validity of a set of endurance tests. ( 30738436 )	Bartels B...de Groot JF	2019
34	Carrier screening for spinal muscular atrophy with a simple test based on melting analysis. ( 30765868 )	Xia Z...Guo Q	2019
35	Corrigendum. ( 30778531 )		2019
36	The Alteration of Intrinsic Excitability and Synaptic Transmission in Lumbar Spinal Motor Neurons and Interneurons of Severe Spinal Muscular Atrophy Mice. ( 30792629 )	Sun J...Harrington MA	2019
37	Efficacy and Safety of Valproic Acid for Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis. ( 30796634 )	Elshafay A...Huy NT	2019
38	Influence of Body Mass Index and Prealbumin Levels on Lung Function in Patients With Spinal Muscular Atrophy: A Pilot Study. ( 30801485 )	Verhulst S...Toussaint M	2019
39	Joint Hyperlaxity, Proximal Contractures, and Facial Weakness in Child With Spinal Muscular Atrophy. ( 30801486 )	Dhawan SR...Sankhyan N	2019
40	Euglycemic Ketoacidosis in Spinal Muscular Atrophy. ( 30809411 )	Stoimenis D...Kapravelos N	2019
41	Resolution of skin necrosis after nusinersen treatment in an infant with spinal muscular atrophy. ( 30811610 )	Salmin F...Sansone VA	2019
42	Physical exercise training for type 3 spinal muscular atrophy. ( 30821348 )	Bartels B...de Groot JF	2019
43	Effect of new modalities of treatment on physicians management plan for patients with spinal muscular atrophy. ( 30842395 )	Bashiri FA...Alhasan KA	2019
44	Notch Signaling Mediates Astrocyte Abnormality in Spinal Muscular Atrophy Model Systems. ( 30842449 )	Ohuchi K...Hara H	2019
45	Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1. ( 30863264 )	Kim YA...Kim YM	2019
46	Radiation exposure of image-guided intrathecal administration of nusinersen to adult patients with spinal muscular atrophy. ( 30868184 )	Oldenburg D...M?nninghoff C	2019
47	Systemic nature of spinal muscular atrophy revealed by studying insurance claims. ( 30870495 )	Lipnick SL...Rubin LL	2019
48	Survival, Motor Function, and Motor Milestones: Comparison of AVXS-101 Relative to Nusinersen for the Treatment of Infants with Spinal Muscular Atrophy Type 1. ( 30879249 )	Dabbous O...Sproule DM	2019
49	Rewriting the (tran)script: Application to spinal muscular atrophy. ( 30879473 )	Ratni H...Ebeling M	2019
50	Turning the tide in spinal muscular atrophy: A different respiratory course. ( 30884211 )	Mayer OH	2019

Sources

Genes for Spinal Muscular Atrophy

Genes related to Spinal Muscular Atrophy (5 elite genes):

(show all 45)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SMN1	Survival Of Motor Neuron 1, Telomeric	Protein Coding	485.34	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	17761659 20301526 19384151 (more) 17761651 15964810 17761649 17761657 12244096 11092763 12452462 16554261 9363657 10205265 11509571 15858401 15000810 15832310 18546169 17250498 11978761 11791208 11283611 11121410 10405443 10369311 10601333 19050931 15944201 12427909 11641277 10772809 10556282 9708795 9073029 19663601 17932121 11925564 11504604 10749994 10686493 10226744 9845364 14711346 9153488 15494309 12872254 11773003 11562575 11302690 10234506 9801871 9199562 8880702 16331551 16607616 16481599 11389857 11332465 10732802 9302277 8882869 19350502 18178576 17761655 16617248 15523494 14676483 14595654 10339583 8808598 20025960 19228773 18078930 16936383 15580564 12783893 17585203 16385450 8595417 9503025 9719377 9817934 10607836 11322942 9259265 9029072 8981949 8929942 20162870 19716110 19373809 19215052 17027862 20194437 19928837 19480685 19287802 18791638 18508340 17924536 17475491 11798607
2	BICD2	BICD Cargo Adaptor 2	Protein Coding	444.81	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	17761659 20301526 19384151
3	DYNC1H1	Dynein Cytoplasmic 1 Heavy Chain 1	Protein Coding	444.16	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	17761659 20301526 19384151
4	GEMIN2	Gem Nuclear Organelle Associated Protein 2	Protein Coding	126.75	Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	10909848 11092763
5	SMNDC1	Survival Motor Neuron Domain Containing 1	Protein Coding	120.26	Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
6	SMN2	Survival Of Motor Neuron 2, Centromeric	Protein Coding	72.92	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	16554261 17761649 18546169 (more) 20194437 17407069 14766219 17761657 19207472 18533950 16385450 18842367 19716110 14742439 9153454 16439605 16000068 16049920 19922137 17609673 17217749 15981080 15944201 11424133 11153908 9002676 18971205 16449646 14711346 12915451 12242541 10655541 20186123 18178576 17065443 11977189 11835381 20025960 20161659 19953646 18771690 18078930 16508748 11504604 18844099 17761653 16931506 12673282 11977191 11642117 9801871 9199562 19287802 17924536 12833158 9259265 19373809 16724231 17585203
7	NAIP	NLR Family Apoptosis Inhibitory Protein	Protein Coding	58.54	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications Summaries Functions (show sections)	9363657 9341874 17250498 (more) 9073029 10369311 8882869 18533950 16936383 14676483 11030753 10686493 9667776 8606706 9503025 9713008 11924116 11243588 17175684 12445469 11896143 11332465 10683821 10640764 19405914 18071605 19287802 9439064 10735271 19198020 12903402 9295075 16936378 12001651 10719817 10686495 10565186 8852661 8824882 11642117 9801871 9225684 11798607 10194256 11912351 17682539 17510375 18842367 8929942
8	ASAH1	N-Acylsphingosine Amidohydrolase 1	Protein Coding	51.8	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
9	ATP7A	ATPase Copper Transporting Alpha	Protein Coding	50.12	GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
10	IGHMBP2	Immunoglobulin Mu DNA Binding Protein 2	Protein Coding	50.02	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications Variants (show sections)	19157874 15269181 18263757 (more) 19299493 14506069 17236770 17431882 15797190 15290238
11	TRIP4	Thyroid Hormone Receptor Interactor 4	Protein Coding	47.11	GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
12	DDX20	DEAD-Box Helicase 20	Protein Coding	44.47	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications Summaries (show sections)	10601333 10909848
13	TRPV4	Transient Receptor Potential Cation Channel Subfamily V Member 4	Protein Coding	43.84	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
14	DNAJB2	DnaJ Heat Shock Protein Family (Hsp40) Member B2	Protein Coding	43.67	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
15	ZPR1	ZPR1 Zinc Finger	Protein Coding	42.24	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Expressions (show sections)
16	UBA1	Ubiquitin Like Modifier Activating Enzyme 1	Protein Coding	41.96	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
17	PLEKHG5	Pleckstrin Homology And RhoGEF Domain Containing G5	Protein Coding	41.1	GeneCards inferred via : Disorders Summaries Variants (show sections)
18	VAPB	VAMP Associated Protein B And C	Protein Coding	40.25	GeneCards inferred via : Disorders Publications Variants (show sections)
19	ASCC1	Activating Signal Cointegrator 1 Complex Subunit 1	Protein Coding	36.2	GeneCards inferred via : Disorders Publications Variants (show sections)
20	GTF2H2	General Transcription Factor IIH Subunit 2	Protein Coding	33.81	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications Summaries (show sections)	17903057 10673506 10686493
21	SERF1A	Small EDRK-Rich Factor 1A	Protein Coding	33.39	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Gene name Summaries (show sections)
22	AR	Androgen Receptor	Protein Coding	25.97	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
23	COIL	Coilin	Protein Coding	23.67	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	11641277
24	CHCHD10	Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10	Protein Coding	22.34	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
25	VRK1	VRK Serine/Threonine Kinase 1	Protein Coding	21.8	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
26	MAP1B	Microtubule Associated Protein 1B	Protein Coding	21.22	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	1881920 1505990 8449502
27	KDSR	3-Ketodihydrosphingosine Reductase	Protein Coding	21.15	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
28	FUS	FUS RNA Binding Protein	Protein Coding	19.77	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
29	SCO2	SCO Cytochrome C Oxidase Assembly Protein 2	Protein Coding	19.23	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	12020273 18332255 19879173
30	GARS	Glycyl-TRNA Synthetase	Protein Coding	19.03	GeneCards inferred via : Publications Variants (show sections)
31	LSM2	LSM2 Homolog, U6 Small Nuclear RNA And MRNA Degradation Associated	Protein Coding	18.61	Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	10851237 10500148 19244360 (more) 18485864 19343312 9323129
32	SIGMAR1	Sigma Non-Opioid Intracellular Receptor 1	Protein Coding	18.13	GeneCards inferred via : Disorders Variants (show sections)
33	TBCE	Tubulin Folding Cofactor E	Protein Coding	16.34	GeneCards inferred via : Disorders Publications (show sections)
34	SETX	Senataxin	Protein Coding	16.27	GeneCards inferred via : Publications Variants (show sections)
35	FBXO38	F-Box Protein 38	Protein Coding	15.82	GeneCards inferred via : Publications Variants (show sections)
36	GAR1	GAR1 Ribonucleoprotein	Protein Coding	14.96	Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	12244096
37	PLS3	Plastin 3	Protein Coding	14.86	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
38	HEXA	Hexosaminidase Subunit Alpha	Protein Coding	14.43	Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	9153525 11460829 7898712 (more) 10434678
39	HDAC9	Histone Deacetylase 9	Protein Coding	14.18	Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	18230051 17998807 19388875 (more) 16805808 19355990
40	HNRNPA1	Heterogeneous Nuclear Ribonucleoprotein A1	Protein Coding	12.97	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
41	SERF1B	Small EDRK-Rich Factor 1B	Protein Coding	12.9	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
42	GEMIN5	Gem Nuclear Organelle Associated Protein 5	Protein Coding	12.79	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
43	GEMIN4	Gem Nuclear Organelle Associated Protein 4	Protein Coding	12.79	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
44	HNRNPR	Heterogeneous Nuclear Ribonucleoprotein R	Protein Coding	12.67	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
45	HSPB8	Heat Shock Protein Family B (Small) Member 8	Protein Coding	12.64	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

Sources

Variations for Spinal Muscular Atrophy

ClinVar genetic disease variations for Spinal Muscular Atrophy:

⁶ (show top 50) (show all 187)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	BICD2	NM_001003800.1(BICD2): c.320C> T (p.Ser107Leu)	single nucleotide variant	Pathogenic	rs398123028	GRCh37	Chromosome 9, 95491439: 95491439
2	BICD2	NM_001003800.1(BICD2): c.320C> T (p.Ser107Leu)	single nucleotide variant	Pathogenic	rs398123028	GRCh38	Chromosome 9, 92729157: 92729157
3	IGHMBP2	NM_002180.2(IGHMBP2): c.256+9G> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs118015540	GRCh38	Chromosome 11, 68906247: 68906247
4	IGHMBP2	NM_002180.2(IGHMBP2): c.256+9G> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs118015540	GRCh37	Chromosome 11, 68673715: 68673715
5	DYNC1H1	NM_001376.4(DYNC1H1): c.791G> T (p.Arg264Leu)	single nucleotide variant	Pathogenic	rs713993043	GRCh38	Chromosome 14, 101980380: 101980380
6	DYNC1H1	NM_001376.4(DYNC1H1): c.791G> T (p.Arg264Leu)	single nucleotide variant	Pathogenic	rs713993043	GRCh37	Chromosome 14, 102446717: 102446717
7	IGHMBP2	NM_002180.2(IGHMBP2): c.2439G> A (p.Ala813=)	single nucleotide variant	Benign/Likely benign	rs624147	GRCh37	Chromosome 11, 68704387: 68704387
8	IGHMBP2	NM_002180.2(IGHMBP2): c.2439G> A (p.Ala813=)	single nucleotide variant	Benign/Likely benign	rs624147	GRCh38	Chromosome 11, 68936919: 68936919
9	IGHMBP2	NM_002180.2(IGHMBP2): c.2636C> A (p.Thr879Lys)	single nucleotide variant	Benign	rs17612126	GRCh37	Chromosome 11, 68705674: 68705674
10	IGHMBP2	NM_002180.2(IGHMBP2): c.2636C> A (p.Thr879Lys)	single nucleotide variant	Benign	rs17612126	GRCh38	Chromosome 11, 68938206: 68938206
11	IGHMBP2	NM_002180.2(IGHMBP2): c.2922T> G (p.Asp974Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147674615	GRCh37	Chromosome 11, 68707139: 68707139
12	IGHMBP2	NM_002180.2(IGHMBP2): c.2922T> G (p.Asp974Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147674615	GRCh38	Chromosome 11, 68939671: 68939671
13	IGHMBP2	NM_002180.2(IGHMBP2): c.2793C> T (p.Gly931=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139926138	GRCh37	Chromosome 11, 68707010: 68707010
14	IGHMBP2	NM_002180.2(IGHMBP2): c.2793C> T (p.Gly931=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139926138	GRCh38	Chromosome 11, 68939542: 68939542
15	IGHMBP2	NM_002180.2(IGHMBP2): c.741C> T (p.Ala247=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs76707931	GRCh37	Chromosome 11, 68682320: 68682320
16	IGHMBP2	NM_002180.2(IGHMBP2): c.741C> T (p.Ala247=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs76707931	GRCh38	Chromosome 11, 68914852: 68914852
17	IGHMBP2	NM_002180.2(IGHMBP2): c.1104C> T (p.Tyr368=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148157556	GRCh37	Chromosome 11, 68696694: 68696694
18	IGHMBP2	NM_002180.2(IGHMBP2): c.1104C> T (p.Tyr368=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148157556	GRCh38	Chromosome 11, 68929226: 68929226
19	IGHMBP2	NM_002180.2(IGHMBP2): c.767C> G (p.Ala256Gly)	single nucleotide variant	Uncertain significance	rs148095551	GRCh38	Chromosome 11, 68914878: 68914878
20	IGHMBP2	NM_002180.2(IGHMBP2): c.767C> G (p.Ala256Gly)	single nucleotide variant	Uncertain significance	rs148095551	GRCh37	Chromosome 11, 68682346: 68682346
21	IGHMBP2	NM_002180.2(IGHMBP2): c.857G> A (p.Arg286Gln)	single nucleotide variant	Uncertain significance	rs200566598	GRCh38	Chromosome 11, 68914968: 68914968
22	IGHMBP2	NM_002180.2(IGHMBP2): c.857G> A (p.Arg286Gln)	single nucleotide variant	Uncertain significance	rs200566598	GRCh37	Chromosome 11, 68682436: 68682436
23	IGHMBP2	NM_002180.2(IGHMBP2): c.1193C> T (p.Ala398Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs35193202	GRCh37	Chromosome 11, 68696783: 68696783
24	IGHMBP2	NM_002180.2(IGHMBP2): c.1193C> T (p.Ala398Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs35193202	GRCh38	Chromosome 11, 68929315: 68929315
25	IGHMBP2	NM_002180.2(IGHMBP2): c.2872A> G (p.Asn958Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141873613	GRCh37	Chromosome 11, 68707089: 68707089
26	IGHMBP2	NM_002180.2(IGHMBP2): c.2872A> G (p.Asn958Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141873613	GRCh38	Chromosome 11, 68939621: 68939621
27	IGHMBP2	NM_002180.2(IGHMBP2): c.548-10T> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139207271	GRCh37	Chromosome 11, 68678898: 68678898
28	IGHMBP2	NM_002180.2(IGHMBP2): c.548-10T> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139207271	GRCh38	Chromosome 11, 68911430: 68911430
29	IGHMBP2	NM_002180.2(IGHMBP2): c.381C> G (p.Ser127Arg)	single nucleotide variant	Uncertain significance	rs775782198	GRCh37	Chromosome 11, 68675737: 68675737
30	IGHMBP2	NM_002180.2(IGHMBP2): c.381C> G (p.Ser127Arg)	single nucleotide variant	Uncertain significance	rs775782198	GRCh38	Chromosome 11, 68908269: 68908269
31	IGHMBP2	NM_002180.2(IGHMBP2): c.2360C> T (p.Pro787Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141594765	GRCh37	Chromosome 11, 68704308: 68704308
32	IGHMBP2	NM_002180.2(IGHMBP2): c.2360C> T (p.Pro787Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141594765	GRCh38	Chromosome 11, 68936840: 68936840
33	IGHMBP2	NM_002180.2(IGHMBP2): c.2674A> G (p.Lys892Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201970407	GRCh37	Chromosome 11, 68705712: 68705712
34	IGHMBP2	NM_002180.2(IGHMBP2): c.2674A> G (p.Lys892Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201970407	GRCh38	Chromosome 11, 68938244: 68938244
35	IGHMBP2	NM_002180.2(IGHMBP2): c.2837G> A (p.Arg946Gln)	single nucleotide variant	Uncertain significance	rs149824485	GRCh37	Chromosome 11, 68707054: 68707054
36	IGHMBP2	NM_002180.2(IGHMBP2): c.2837G> A (p.Arg946Gln)	single nucleotide variant	Uncertain significance	rs149824485	GRCh38	Chromosome 11, 68939586: 68939586
37	IGHMBP2	NM_002180.2(IGHMBP2): c.-2C> T	single nucleotide variant	Benign	rs4930624	GRCh37	Chromosome 11, 68671419: 68671419
38	IGHMBP2	NM_002180.2(IGHMBP2): c.-2C> T	single nucleotide variant	Benign	rs4930624	GRCh38	Chromosome 11, 68903951: 68903951
39	IGHMBP2	NM_002180.2(IGHMBP2): c.57T> C (p.Leu19=)	single nucleotide variant	Benign	rs1249463	GRCh37	Chromosome 11, 68671477: 68671477
40	IGHMBP2	NM_002180.2(IGHMBP2): c.57T> C (p.Leu19=)	single nucleotide variant	Benign	rs1249463	GRCh38	Chromosome 11, 68904009: 68904009
41	IGHMBP2	NM_002180.2(IGHMBP2): c.151C> G (p.Gln51Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs117061430	GRCh37	Chromosome 11, 68673601: 68673601
42	IGHMBP2	NM_002180.2(IGHMBP2): c.151C> G (p.Gln51Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs117061430	GRCh38	Chromosome 11, 68906133: 68906133
43	IGHMBP2	NM_002180.2(IGHMBP2): c.180C> T (p.Tyr60=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs34617762	GRCh37	Chromosome 11, 68673630: 68673630
44	IGHMBP2	NM_002180.2(IGHMBP2): c.180C> T (p.Tyr60=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs34617762	GRCh38	Chromosome 11, 68906162: 68906162
45	IGHMBP2	NM_002180.2(IGHMBP2): c.602T> C (p.Leu201Ser)	single nucleotide variant	Benign	rs560096	GRCh37	Chromosome 11, 68678962: 68678962
46	IGHMBP2	NM_002180.2(IGHMBP2): c.602T> C (p.Leu201Ser)	single nucleotide variant	Benign	rs560096	GRCh38	Chromosome 11, 68911494: 68911494
47	IGHMBP2	NM_002180.2(IGHMBP2): c.823A> G (p.Ile275Val)	single nucleotide variant	Benign	rs10896380	GRCh38	Chromosome 11, 68914934: 68914934
48	IGHMBP2	NM_002180.2(IGHMBP2): c.823A> G (p.Ile275Val)	single nucleotide variant	Benign	rs10896380	GRCh37	Chromosome 11, 68682402: 68682402
49	IGHMBP2	NM_002180.2(IGHMBP2): c.1538-8C> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs115320302	GRCh37	Chromosome 11, 68701924: 68701924
50	IGHMBP2	NM_002180.2(IGHMBP2): c.1538-8C> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs115320302	GRCh38	Chromosome 11, 68934456: 68934456

Copy number variations for Spinal Muscular Atrophy from CNVD:

⁷ (show all 22)

#	CNVD ID	Chromosom	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

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

Sources

Pathways for Spinal Muscular Atrophy

Pathways related to Spinal Muscular Atrophy according to KEGG:

³⁸

#	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 ³⁸	11.14	DDX20 GEMIN2 SMN1 SMN2
2	COPI-independent Golgi-to-ER retrograde traffic ⁶⁷	10.4	BICD2 DYNC1H1

Sources

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	cell projection	GO:0042995	9.93	IGHMBP2 PLEKHG5 SMN1 SMN2 TRPV4 ZPR1
2	perikaryon	GO:0043204	9.67	ATP7A SMN1 SMN2 ZPR1
3	growth cone	GO:0030426	9.65	IGHMBP2 TRPV4 ZPR1
4	Cajal body	GO:0015030	9.56	SMN1 SMN2 SMNDC1 ZPR1
5	SMN-Sm protein complex	GO:0034719	9.46	DDX20 GEMIN2 SMN1 SMN2
6	Gemini of coiled bodies	GO:0097504	9.35	DDX20 GEMIN2 SMN1 SMN2 ZPR1
7	SMN complex	GO:0032797	9.02	DDX20 GEMIN2 SMN1 SMN2 ZPR1
8	nucleus	GO:0005634	10.25	ASCC1 ATP7A BICD2 DDX20 DNAJB2 GEMIN2
9	cytoplasm	GO:0005737	10.22	ATP7A BICD2 DDX20 DNAJB2 DYNC1H1 GEMIN2
10	nucleoplasm	GO:0005654	10.13	ASCC1 DDX20 GEMIN2 GTF2H2 SMN1 SMN2

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	9.73	DDX20 GEMIN2 SMN1 SMN2 SMNDC1 ZPR1
2	RNA splicing	GO:0008380	9.63	DDX20 GEMIN2 SMN1 SMN2 SMNDC1 ZPR1
3	spliceosomal complex assembly	GO:0000245	9.5	GEMIN2 SMN1 SMN2
4	RNA splicing, via transesterification reactions	GO:0000375	9.4	GEMIN2 SMNDC1
5	DNA-templated transcription, termination	GO:0006353	9.37	SMN1 SMN2
6	spliceosomal snRNP assembly	GO:0000387	9.26	DDX20 GEMIN2 SMN1 SMN2
7	import into nucleus	GO:0051170	8.92	DDX20 GEMIN2 SMN1 SMN2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	ATP binding	GO:0005524	9.7	ATP7A DDX20 DYNC1H1 IGHMBP2 NAIP TRPV4
2	nucleotide binding	GO:0000166	9.62	DDX20 DYNC1H1 IGHMBP2 TRPV4
3	protein binding	GO:0005515	9.58	ASCC1 ATP7A BICD2 DDX20 DNAJB2 DYNC1H1
4	RNA binding	GO:0003723	9.5	ASCC1 DYNC1H1 IGHMBP2 SMN1 SMN2 SMNDC1
5	dynein light intermediate chain binding	GO:0051959	9.26	BICD2 DYNC1H1

Sources

Sources for Spinal Muscular Atrophy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia