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SMA
MCID: SPN046
MIFTS: 65

Spinal Muscular Atrophy (SMA)

Categories: Genetic diseases, Metabolic 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 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 Metabolic diseases Genetic diseases
Anatomical: Neuronal diseases Respiratory diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 34


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
Sources

Summaries for Spinal Muscular Atrophy

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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 (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are 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. Without this protein, lower motor neurons in the spinal cord degenerate and die. The type of SMA (I, II, or III) is determined by the age of onset and the severity of symptoms. Type I (also known as Werdnig-Hoffman disease, or infantile-onset SMA) is evident at birth or within the first few months. Symptoms include floppy limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Type II (the intermediate form) usually begins 6 and 18 months of age. Legs tend to be more impaired than arms. Children with Type II may able to sit and some may be able to stand or walk with help. Symptoms of Type III (also called Kugelberg-Welander disease) appear between 2 and 17 years of age and include difficulty running, climbing steps, or rising from a chair.  The lower extremities are most often affected.  Complications include scoliosis and chronic shortening of muscles or tendons around joints.  

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

GeneReviews: NBK1352
Sources

Related Diseases for Spinal Muscular Atrophy

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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 291)
# 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 35.1 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 33.7 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 30.2 IGHMBP2 SMN1 SMN2 UBA1
21 spinal muscular atrophy, x-linked 2 12.9
22 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 12.9
23 scapuloperoneal spinal muscular atrophy 12.8
24 spinal muscular atrophy, late-onset, finkel type 12.8
25 spinal muscular atrophy, distal, autosomal recessive, 2 12.8
26 spinal muscular atrophy, distal, x-linked 3 12.7
27 spinal muscular atrophy with progressive myoclonic epilepsy 12.7
28 spinal muscular atrophy, distal, autosomal recessive, 4 12.7
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, distal, autosomal recessive, 5 12.7
32 spinal muscular atrophy, distal, autosomal recessive, 3 12.7
33 spinal muscular atrophy, type i, with congenital bone fractures 12.6
34 autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 12.6
35 spinal muscular atrophy with congenital bone fractures 2 12.6
36 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 12.5
37 spinal muscular atrophy with respiratory distress type 2 12.5
38 spinal muscular atrophy, segmental 12.4
39 autosomal dominant childhood-onset proximal spinal muscular atrophy 12.4
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 12.2
46 arthrogryposis spinal muscular atrophy 12.2
47 congenital benign spinal muscular atrophy dominant 12.2
48 pontocerebellar hypoplasia, type 1a 12.1
49 spinal and bulbar muscular atrophy, x-linked 1 12.0
50 amyotrophy, monomelic 11.9

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:

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
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 70)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2 Peripheral Nervous System Agents Phase 4,Phase 2
3 Antipyretics Phase 4
4 Analgesics Phase 4,Phase 2
5 Analgesics, Non-Narcotic Phase 4,Phase 2
6
Valproic Acid Approved, Investigational Phase 3,Phase 2,Phase 1 99-66-1 3121
7
Hydroxyurea Approved Phase 2, Phase 3,Phase 1 127-07-1 3657
8
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
9
4-Aminopyridine Approved Phase 2, Phase 3 504-24-5 1727
10 Tranquilizing Agents Phase 3,Phase 2,Phase 1
11 Anticonvulsants Phase 3,Phase 2,Phase 1
12 GABA Agents Phase 3,Phase 2,Phase 1
13 Neurotransmitter Agents Phase 3,Phase 2,Phase 1
14 Psychotropic Drugs Phase 3,Phase 2,Phase 1
15 Antimanic Agents Phase 3,Phase 2,Phase 1
16 Central Nervous System Depressants Phase 3,Phase 2,Phase 1
17 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
18 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3,Phase 1
19 Excitatory Amino Acid Antagonists Phase 2, Phase 3
20 Protective Agents Phase 2, Phase 3
21 Excitatory Amino Acids Phase 2, Phase 3
22 Neuroprotective Agents Phase 2, Phase 3
23 Potassium Channel Blockers Phase 2, Phase 3
24
Testosterone undecanoate Approved, Investigational Phase 2 5949-44-0
25
Methyltestosterone Approved Phase 2 58-18-4 6010
26
Leuprolide Approved, Investigational Phase 2 53714-56-0 657181 3911
27
Testosterone Approved, Experimental, Investigational Phase 2 58-22-0, 481-30-1 6013 10204
28
Testosterone enanthate Approved Phase 2 315-37-7 9416
29
Levetiracetam Approved, Investigational Phase 2 102767-28-2 441341
30
Amifampridine Approved, Investigational Phase 2 54-96-6
31
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
32 Cholinesterase Inhibitors Phase 2
33 Bromides Phase 2
34 Pyridostigmine Bromide Phase 2 101-26-8
35 Cholinergic Agents Phase 2
36 Antirheumatic Agents Phase 2
37 Interleukin 1 Receptor Antagonist Protein Phase 2
38 carnitine Phase 2,Phase 1
39 4-phenylbutyric acid Phase 1, Phase 2,Phase 2
40 Hormones Phase 2,Phase 1
41 Androgens Phase 2
42 Testosterone 17 beta-cypionate Phase 2
43 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
44 Fertility Agents Phase 2
45 Antineoplastic Agents, Hormonal Phase 2
46 Hormone Antagonists Phase 2,Phase 1
47 Anabolic Agents Phase 2
48 Nootropic Agents Phase 2
49 Neuromuscular Agents Phase 2
50 Cyclooxygenase Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 120)
# 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 Controlled Trial to Evaluate Amifampridine Phosphate in Spinal Muscular Atrophy Type 3 Patients Recruiting NCT03781479 Phase 2 Amifampridine Phosphate;Placebo Oral Tablet
38 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
39 Autologous Bone Marrow-Derived Stem Cell Therapy for Motor Neuron Disease Active, not recruiting NCT03067857 Phase 1, Phase 2
40 Long Term Safety of Amifampridine Phosphate in Spinal Muscular Atrophy 3 Enrolling by invitation NCT03819660 Phase 2 Amifampridine Phosphate 10 MG Oral Tablet
41 Effect of Low-Dose Celecoxib on SMN2 in Patients With Spinal Muscular Atrophy Not yet recruiting NCT02876094 Phase 2 celecoxib
42 A Study of Risdiplam in Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy Not yet recruiting NCT03779334 Phase 2 Risdiplam
43 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Type I Terminated NCT00439218 Phase 1, Phase 2 sodium phenylbutyrate
44 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Types II or III Terminated NCT00439569 Phase 1, Phase 2 sodium phenylbutyrate
45 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
46 Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1 Completed NCT02122952 Phase 1
47 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
48 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
49 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
50 Study of Safety and Dosing Effect on SMN Levels of Valproic Acid (VPA) in Patients With Spinal Muscular Atrophy Completed NCT00374075 Phase 1 Valproic Acid

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 30 GEMIN2 SMNDC1
Sources

Anatomical Context for Spinal Muscular Atrophy

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MalaCards organs/tissues related to Spinal Muscular Atrophy:

42
Testes, Spinal Cord, Skeletal Muscle, Bone, Smooth Muscle, Cortex, Brain
Sources

Publications for Spinal Muscular Atrophy

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Articles related to Spinal Muscular Atrophy:

(show top 50) (show all 2947)
# Title Authors Year
1
Motor Unit Number Index (MUNIX) of hand muscles is a disease biomarker for adult spinal muscular atrophy. ( 30528741 )
2019
2
Reading the palm with MUNIX: A 'reversed split hand' in spinal muscular atrophy. ( 30553648 )
2019
3
The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophy. ( 30553700 )
2019
4
Perceived Fatigue in Spinal Muscular Atrophy: A Pilot Study. ( 30562906 )
2019
5
Perspectives on Spinraza (Nusinersen) Treatment Study: Views of Individuals and Parents of Children Diagnosed with Spinal Muscular Atrophy. ( 30594933 )
2019
6
A novel mutation in VRK1 associated with distal spinal muscular atrophy. ( 30617279 )
2019
7
Parents' Experiences of Information and Decision Making in the Care of Their Child With Severe Spinal Muscular Atrophy: A Population Survey. ( 30642225 )
2019
8
Anthropometric measurement standardization for a multicenter nutrition survey in children with spinal muscular atrophy. ( 30647441 )
2019
9
Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons. ( 30649277 )
2019
10
Novel challenges in spinal muscular atrophy - How to screen and whom to treat? ( 30656198 )
2019
11
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 )
2019
12
SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy. ( 30665421 )
2019
13
A SMN2 splicing modifier rescues the disease phenotypes in an in vitro human spinal muscular atrophy model. ( 30667343 )
2019
14
Revised Upper Limb Module for Spinal Muscular Atrophy: 12 month changes. ( 30677148 )
2019
15
Psychological well-being in adults with spinal muscular atrophy: the contribution of participation and psychological needs. ( 30696284 )
2019
16
Cost Effectiveness of Nusinersen in the Treatment of Patients with Infantile-Onset and Later-Onset Spinal Muscular Atrophy in Sweden. ( 30714083 )
2019
17
Impairment of oligodendrocyte lineages in spinal muscular atrophy model systems. ( 30724851 )
2019
18
Reliability of four tests to assess body posture and the range of selected movements in individuals with spinal muscular atrophy. ( 30732590 )
2019
19
Intraperitoneal delivery of a novel drug-like compound improves disease severity in severe and intermediate mouse models of Spinal Muscular Atrophy. ( 30733501 )
2019
20
Assessment of fatigability in patients with spinal muscular atrophy: development and content validity of a set of endurance tests. ( 30738436 )
2019
21
Carrier screening for spinal muscular atrophy with a simple test based on melting analysis. ( 30765868 )
2019
22
The Alteration of Intrinsic Excitability and Synaptic Transmission in Lumbar Spinal Motor Neurons and Interneurons of Severe Spinal Muscular Atrophy Mice. ( 30792629 )
2019
23
Efficacy and Safety of Valproic Acid for Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis. ( 30796634 )
2019
24
Influence of Body Mass Index and Prealbumin Levels on Lung Function in Patients With Spinal Muscular Atrophy: A Pilot Study. ( 30801485 )
2019
25
Joint Hyperlaxity, Proximal Contractures, and Facial Weakness in Child With Spinal Muscular Atrophy. ( 30801486 )
2019
26
Euglycemic Ketoacidosis in Spinal Muscular Atrophy. ( 30809411 )
2019
27
Resolution of skin necrosis after nusinersen treatment in an infant with spinal muscular atrophy. ( 30811610 )
2019
28
Physical exercise training for type 3 spinal muscular atrophy. ( 30821348 )
2019
29
Effect of new modalities of treatment on physicians management plan for patients with spinal muscular atrophy. ( 30842395 )
2019
30
Notch Signaling Mediates Astrocyte Abnormality in Spinal Muscular Atrophy Model Systems. ( 30842449 )
2019
31
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 )
2019
32
Radiation exposure of image-guided intrathecal administration of nusinersen to adult patients with spinal muscular atrophy. ( 30868184 )
2019
33
Systemic nature of spinal muscular atrophy revealed by studying insurance claims. ( 30870495 )
2019
34
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 )
2019
35
Rewriting the (tran)script: Application to spinal muscular atrophy. ( 30879473 )
2019
36
Turning the tide in spinal muscular atrophy: A different respiratory course. ( 30884211 )
2019
37
Is there hope for spinal muscular atrophy synthetic pharmacotherapy? ( 30892979 )
2019
38
Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy. ( 30904991 )
2019
39
Prediction of key gene function in spinal muscular atrophy using guilt by association method based on network and gene ontology. ( 30906446 )
2019
40
Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps. ( 30221755 )
2019
41
Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II. ( 30340076 )
2019
42
Spinal muscular atrophy with respiratory distress type 1 associated with novel compound heterozygous mutations in IGHMBP2: Differential diagnosis in a case with congenital diaphragm eventration. ( 29575095 )
2019
43
The use of styrene-maleic acid copolymer (SMA) for studies on T cell membrane rafts. ( 30463696 )
2019
44
Neurofilaments and tau in CSF in an infant with SMA type 1 treated with nusinersen. ( 30630960 )
2019
45
Analysis of the Behavior of SMA Mixtures with Different Fillers Through the Semicircular Bend (SCB) Fracture Test. ( 30658452 )
2019
46
Case Report of Novel Endoscopic Findings in SMA Syndrome Demonstrated by Video Endoscopy: Visibly Pulsating, Band-Like, Compression in Third Portion of Duodenum, with the Pulsations Corresponding One-for-One with the Radial Pulse and EKG Cycle. ( 30725288 )
2019
47
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. ( 30788592 )
2019
48
Experimental and Numerical Investigation of Mechanical and Thermal Effects in TiNi SMA during Transformation-Induced Creep Phenomena. ( 30884796 )
2019
49
Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA. ( 30886572 )
2019
50
An unusual presentation of congenital superior mesenteric artery (SMA) syndrome. ( 30886698 )
2019
Sources

Variations for Spinal Muscular Atrophy

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ClinVar genetic disease variations for Spinal Muscular Atrophy:

6 (show top 50) (show all 187)
# Gene Variation Type Significance SNP ID Assembly Location
1 DYNC1H1 NM_001376.4(DYNC1H1): c.791G> T (p.Arg264Leu) single nucleotide variant Pathogenic rs713993043 GRCh38 Chromosome 14, 101980380: 101980380
2 DYNC1H1 NM_001376.4(DYNC1H1): c.791G> T (p.Arg264Leu) single nucleotide variant Pathogenic rs713993043 GRCh37 Chromosome 14, 102446717: 102446717
3 IGHMBP2 NM_002180.2(IGHMBP2): c.2439G> A (p.Ala813=) single nucleotide variant Benign/Likely benign rs624147 GRCh37 Chromosome 11, 68704387: 68704387
4 IGHMBP2 NM_002180.2(IGHMBP2): c.2439G> A (p.Ala813=) single nucleotide variant Benign/Likely benign rs624147 GRCh38 Chromosome 11, 68936919: 68936919
5 IGHMBP2 NM_002180.2(IGHMBP2): c.2636C> A (p.Thr879Lys) single nucleotide variant Benign rs17612126 GRCh37 Chromosome 11, 68705674: 68705674
6 IGHMBP2 NM_002180.2(IGHMBP2): c.2636C> A (p.Thr879Lys) single nucleotide variant Benign rs17612126 GRCh38 Chromosome 11, 68938206: 68938206
7 IGHMBP2 NM_002180.2(IGHMBP2): c.2922T> G (p.Asp974Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs147674615 GRCh37 Chromosome 11, 68707139: 68707139
8 IGHMBP2 NM_002180.2(IGHMBP2): c.2922T> G (p.Asp974Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs147674615 GRCh38 Chromosome 11, 68939671: 68939671
9 IGHMBP2 NM_002180.2(IGHMBP2): c.2793C> T (p.Gly931=) single nucleotide variant Conflicting interpretations of pathogenicity rs139926138 GRCh37 Chromosome 11, 68707010: 68707010
10 IGHMBP2 NM_002180.2(IGHMBP2): c.2793C> T (p.Gly931=) single nucleotide variant Conflicting interpretations of pathogenicity rs139926138 GRCh38 Chromosome 11, 68939542: 68939542
11 IGHMBP2 NM_002180.2(IGHMBP2): c.741C> T (p.Ala247=) single nucleotide variant Conflicting interpretations of pathogenicity rs76707931 GRCh37 Chromosome 11, 68682320: 68682320
12 IGHMBP2 NM_002180.2(IGHMBP2): c.741C> T (p.Ala247=) single nucleotide variant Conflicting interpretations of pathogenicity rs76707931 GRCh38 Chromosome 11, 68914852: 68914852
13 IGHMBP2 NM_002180.2(IGHMBP2): c.1104C> T (p.Tyr368=) single nucleotide variant Conflicting interpretations of pathogenicity rs148157556 GRCh37 Chromosome 11, 68696694: 68696694
14 IGHMBP2 NM_002180.2(IGHMBP2): c.1104C> T (p.Tyr368=) single nucleotide variant Conflicting interpretations of pathogenicity rs148157556 GRCh38 Chromosome 11, 68929226: 68929226
15 IGHMBP2 NM_002180.2(IGHMBP2): c.767C> G (p.Ala256Gly) single nucleotide variant Uncertain significance rs148095551 GRCh38 Chromosome 11, 68914878: 68914878
16 IGHMBP2 NM_002180.2(IGHMBP2): c.767C> G (p.Ala256Gly) single nucleotide variant Uncertain significance rs148095551 GRCh37 Chromosome 11, 68682346: 68682346
17 BICD2 NM_001003800.1(BICD2): c.320C> T (p.Ser107Leu) single nucleotide variant Pathogenic rs398123028 GRCh37 Chromosome 9, 95491439: 95491439
18 BICD2 NM_001003800.1(BICD2): c.320C> T (p.Ser107Leu) single nucleotide variant Pathogenic rs398123028 GRCh38 Chromosome 9, 92729157: 92729157
19 IGHMBP2 NM_002180.2(IGHMBP2): c.256+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs118015540 GRCh38 Chromosome 11, 68906247: 68906247
20 IGHMBP2 NM_002180.2(IGHMBP2): c.256+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs118015540 GRCh37 Chromosome 11, 68673715: 68673715
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

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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:

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

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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 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

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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