SMA1
MCID: SPN315
MIFTS: 47

Spinal Muscular Atrophy-1 (SMA1) malady

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

Aliases & Classifications for Spinal Muscular Atrophy-1

Aliases & Descriptions for Spinal Muscular Atrophy-1:

Name: Spinal Muscular Atrophy-1 54 13
Werdnig-Hoffmann Disease 12 50 56 52 14
Werdnig-Hoffman Disease 12 51 66
Sma1 50 56 66
Proximal Spinal Muscular Atrophy Type 1 50 56
Infantile Muscular Atrophy 12 66
Spinal Muscular Atrophy 1 50 66
Werdnig Hoffmann Disease 50 29
Hmn Proximal Type I 12 69
Sma Type 1 50 56
Sma Type I 50 56
Sma-I 50 56
Hereditary Motor Neuropathy Proximal Type I 12
Proximal Hereditary Motor Neuropathy Type I 66
Proximal Spinal Muscular Atrophy, Type 1 50
Progressive Muscular Atrophy of Infancy 12
Infantile Spinal Muscular Atrophy 56
Spinal Muscular Atrophy, Type I 54
Spinal Muscular Atrophy Type I 66
Muscular Atrophy, Infantile 50
Sma, Infantile Acute Form 50
Sma Infantile Acute Form 66
Sma I 66

Characteristics:

Orphanet epidemiological data:

56
proximal spinal muscular atrophy type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
spinal muscular atrophy-1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 253300
Disease Ontology 12 DOID:13137
ICD10 33 G12.0
ICD9CM 35 335.0
MeSH 42 D014897
NCIt 47 C98670
Orphanet 56 ORPHA83330
ICD10 via Orphanet 34 G12.0
MedGen 40 C0043116
UMLS 69 C0043116

Summaries for Spinal Muscular Atrophy-1

NINDS : 51 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.  

MalaCards based summary : Spinal Muscular Atrophy-1, also known as werdnig-hoffmann disease, is related to spinal muscular atrophy-3 and neuronopathy, distal hereditary motor, type vi, and has symptoms including recurrent respiratory infections, respiratory failure and ventricular septal defect. An important gene associated with Spinal Muscular Atrophy-1 is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways/superpathways is TP53 Regulates Metabolic Genes. The drugs Acetylcholine and abobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and tongue.

NIH Rare Diseases : 50 spinal muscular atrophy 1 (sma1), also known as werdnig hoffmann disease, is a severe type of spinal muscular atrophy. symptoms of sma1 become apparent before 6 months of age and include worsening muscle weakness and poor muscle tone (hypotonia) due to loss of the lower motor neurons in the spinal cord and brain stem. feeding and breathing problems are also present. sma1 is caused by changes (mutations) in the smn1 gene and is typically inherited in an autosomal recessive manner. around 2% of cases are not inherited and are due to new mutations in the affected person. treatment is symptomatic and aims to improve quality of life. last updated: 9/21/2016

OMIM : 54 Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration... (253300) more...

UniProtKB/Swiss-Prot : 66 Spinal muscular atrophy 1: A form of spinal muscular atrophy, a group of neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Autosomal recessive forms are classified according to the age of onset, the maximum muscular activity achieved, and survivorship. The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is a severe form, with onset before 6 months of age. SMA1 patients never achieve the ability to sit.

Related Diseases for Spinal Muscular Atrophy-1

Diseases in the Spinal Muscular Atrophy family:

Spinal Muscular Atrophy-1 Spinal Muscular Atrophy-2
Spinal Muscular Atrophy-3 Spinal Muscular Atrophy-4
Adult Spinal Muscular Atrophy Juvenile Spinal Muscular Atrophy
Congenital Benign Spinal Muscular Atrophy Dominant

Diseases related to Spinal Muscular Atrophy-1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
id Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy-3 29.3 COX14 FKTN IGHMBP2 NAIP SCO2 SMN1
2 neuronopathy, distal hereditary motor, type vi 11.2
3 spinal muscular atrophy, x-linked 2, infantile 10.9
4 spinal muscular atrophy-2 10.9
5 spinal muscular atrophy type 1 with congenital bone fractures 10.8
6 spinal and bulbar muscular atrophy of kennedy 10.8
7 spinal muscular atrophy, lower extremity-predominant 1, ad 10.8
8 pontocerebellar hypoplasia type 1a 10.8
9 proximal spinal muscular atrophy 10.8
10 spinal muscular atrophy 10.5
11 muscular atrophy 10.5
12 survival motor neuron spinal muscular atrophy 10.3
13 posterior polar cataract 10.2 SMN1 SMN2
14 spinal cord glioma 10.1 SMN1 SMN2
15 pigmented nodular adrenocortical disease, primary, 3 10.1 SMN1 SMN2
16 shigellosis 10.1 NAIP SMN1 SMN2
17 spinal muscular atrophy-4 10.1 NAIP SMN1 SMN2
18 cardiac tuberculosis 10.1 NAIP SMN1 SMN2
19 sandhoff disease, infantile, juvenile, and adult forms 10.1 NAIP SMN1 SMN2
20 pseudohermaphrodism anorectal anomalies 10.0 NAIP SMN1 SMN2
21 phototoxic dermatitis 10.0 NAIP SMN1 SMN2
22 mucopolysaccharidosis iv 10.0 NAIP SMN1 SMN2
23 cerebral angioma 10.0 FKTN SMN1 SMN2
24 colorado tick fever 9.8 IGHMBP2 SMN1 SMN2 VRK1
25 long qt syndrome 5 9.7 NAIP SMN1 SMN2 SYP
26 bladder urachal adenocarcinoma 9.6 IGHMBP2 NAIP SMN1 SMN2 ZPR1
27 bipolar ll disorder 9.3 COX14 NAIP SMN1 SMN2 VRK1 ZPR1
28 spondylolisthesis 9.2 IGHMBP2 NAIP SCO2 SMN1 SMN2 VRK1

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy-1:



Diseases related to Spinal Muscular Atrophy-1

Symptoms & Phenotypes for Spinal Muscular Atrophy-1

Symptoms by clinical synopsis from OMIM:

253300

Clinical features from OMIM:

253300

Human phenotypes related to Spinal Muscular Atrophy-1:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 respiratory failure 32 HP:0002878
3 ventricular septal defect 32 HP:0001629
4 areflexia 32 HP:0001284
5 proximal muscle weakness in lower limbs 32 HP:0008994
6 decreased fetal movement 32 HP:0001558
7 proximal amyotrophy 32 HP:0007126
8 tongue fasciculations 32 HP:0001308
9 atrial septal defect 32 HP:0001631
10 emg 32 HP:0003445
11 spinal muscular atrophy 32 HP:0007269

Drugs & Therapeutics for Spinal Muscular Atrophy-1

Drugs for Spinal Muscular Atrophy-1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 65)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4 51-84-3 187
2 abobotulinumtoxinA Phase 4
3 Botulinum Toxins Phase 4
4 Botulinum Toxins, Type A Phase 4
5 Cholinergic Agents Phase 4,Phase 2
6 incobotulinumtoxinA Phase 4
7 Neuromuscular Agents Phase 4
8 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2
9 onabotulinumtoxinA Phase 4
10 Peripheral Nervous System Agents Phase 4,Phase 2,Early Phase 1
11 rimabotulinumtoxinB Phase 4
12
Hydroxyurea Approved Phase 2, Phase 3,Phase 1 127-07-1 3657
13
4-Aminopyridine Approved Phase 2, Phase 3 504-24-5 1727
14
Valproic Acid Approved, Investigational Phase 3,Phase 1,Phase 2 99-66-1 3121
15 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3,Phase 1
16 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1,Early Phase 1
17 Potassium Channel Blockers Phase 2, Phase 3
18 Antibodies Phase 2, Phase 3
19 gamma-Globulins Phase 2, Phase 3
20 Immunoglobulins Phase 2, Phase 3
21 Immunoglobulins, Intravenous Phase 2, Phase 3
22 Rho(D) Immune Globulin Phase 2, Phase 3
23 Anticonvulsants Phase 3,Phase 1,Phase 2
24 Antimanic Agents Phase 3,Phase 1,Phase 2
25 Central Nervous System Depressants Phase 3,Phase 1,Phase 2
26 GABA Agents Phase 3,Phase 1,Phase 2
27 Psychotropic Drugs Phase 3,Phase 1,Phase 2
28 Tranquilizing Agents Phase 3,Phase 1,Phase 2
29 carnitine Nutraceutical Phase 3,Phase 1,Phase 2
30
Methylcobalamin Experimental, Nutraceutical Phase 2, Phase 3 13422-55-4
31
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
32 Antirheumatic Agents Phase 2
33 Interleukin 1 Receptor Antagonist Protein Phase 2
34 4-phenylbutyric acid Phase 1, Phase 2
35 Bromides Phase 2
36 Cholinesterase Inhibitors Phase 2
37 Pyridostigmine Bromide Phase 2 101-26-8
38 Analgesics Phase 2
39 Analgesics, Non-Narcotic Phase 2
40 Anti-Inflammatory Agents Phase 2
41 Anti-Inflammatory Agents, Non-Steroidal Phase 2
42 Cyclooxygenase 2 Inhibitors Phase 2
43 Cyclooxygenase Inhibitors Phase 2
44
Itraconazole Approved, Investigational Phase 1 84625-61-6 55283
45
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
46 Antifungal Agents Phase 1
47 Anti-Infective Agents Phase 1
48 Cytochrome P-450 CYP3A Inhibitors Phase 1
49 Cytochrome P-450 Enzyme Inhibitors Phase 1
50 Hormone Antagonists Phase 1

Interventional clinical trials:

(show top 50) (show all 99)
id Name Status NCT ID Phase
1 Myobloc Atrophy Study Completed NCT02052024 Phase 4
2 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3
3 Short and Long Term Treatment With 4-AP in Ambulatory SMA Patients Completed NCT01645787 Phase 2, Phase 3
4 Post-Poliosyndrome Treated With Intravenous Immunoglobulin (IvIg) Completed NCT00231439 Phase 2, Phase 3
5 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Recruiting NCT01671384 Phase 3
6 Study of the Efficacy and Safety of Immune Globulin Intravenous (Human) Flebogamma® 5% DIF in Patients With Post-polio Syndrome Recruiting NCT02176863 Phase 2, Phase 3
7 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Active, not recruiting NCT00445172 Phase 2, Phase 3
8 A Study for Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in Nusinersen (ISIS 396443) Investigational Studies. Enrolling by invitation NCT02594124 Phase 3
9 Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders Terminated NCT00839033 Phase 3
10 A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients Unknown status NCT00568802 Phase 1, Phase 2
11 Safety and Tolerability of Anakinra in Combination With Riluzol in Amyotrophic Lateral Sclerosis Unknown status NCT01277315 Phase 2
12 Transcranial Direct Current Stimulation as a Novel Therapeutic Approach in Amyotrophic Lateral Sclerosis Unknown status NCT01569958 Phase 2
13 A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients Completed NCT00568698 Phase 1, Phase 2
14 CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type I Completed NCT00661453 Phase 1, Phase 2
15 Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy Completed NCT00528268 Phase 1, Phase 2
16 Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy Completed NCT00227266 Phase 2
17 Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy Completed NCT00481013 Phase 2
18 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
19 Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Years SMA Patients. Completed NCT01302600 Phase 2
20 Effects of Power Mobility on Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
21 Effect of Functional Exercise in Patients With Spinal Bulbar Muscular Atrophy Completed NCT01369901 Phase 1, Phase 2
22 Safety, Tolerability, and Efficacy of BVS857 in Patients With Spinal and Bulbar Muscular Atrophy Completed NCT02024932 Phase 2
23 Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman Patients Recruiting NCT02855112 Phase 1, Phase 2
24 A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Infants With Type1 Spinal Muscular Atrophy (Firefish) Recruiting NCT02913482 Phase 2
25 A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Type 2 and 3 Spinal Muscular Atrophy Participants (Sunfish) Recruiting NCT02908685 Phase 2
26 SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4 Recruiting NCT02941328 Phase 2
27 A Study of CK-2127107 in Patients With Spinal Muscular Atrophy Recruiting NCT02644668 Phase 2
28 Safety and Efficacy Study of Pyridostigmine on Patients With Spinal Muscular Atrophy Type 3 Recruiting NCT02227823 Phase 2
29 An Open Label Study of LMI070 in Type 1 Spinal Muscular Atrophy (SMA) Active, not recruiting NCT02268552 Phase 1, Phase 2
30 A Study to Assess the Efficacy, Safety and Pharmacokinetics of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy (SMA) Active, not recruiting NCT01839656 Phase 2
31 A Study to Assess the Safety and Tolerability of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA). Active, not recruiting NCT02462759 Phase 2
32 A Study to Evaluate Long Term Safety, Tolerability, and Effectiveness of Olesoxime in Participants With Spinal Muscular Atrophy (SMA) Active, not recruiting NCT02628743 Phase 2
33 Autologous Bone Marrow-Derived Stem Cell Therapy for Motor Neuron Disease Active, not recruiting NCT03067857 Phase 1, Phase 2
34 Effect of Low-Dose Celecoxib on SMN2 in Patients With Spinal Muscular Atrophy Not yet recruiting NCT02876094 Phase 2
35 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Type I Terminated NCT00439218 Phase 1, Phase 2
36 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Types II or III Terminated NCT00439569 Phase 1, Phase 2
37 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
38 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
39 A Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of RO7034067 (RG7916) Given by Mouth in Healthy Volunteers Completed NCT02633709 Phase 1
40 Study of Safety and Dosing Effect on SMN Levels of Valproic Acid (VPA) in Patients With Spinal Muscular Atrophy Completed NCT00374075 Phase 1
41 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
42 Intrathecal Transplantation of Mesenchymal Stem Cell in Patients With ALS Completed NCT01771640 Phase 1
43 Intravenous Transplantation of Mesenchymal Stem Cell in Patients With ALS Completed NCT01759797 Phase 1
44 Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1 Active, not recruiting NCT02122952 Phase 1
45 A Study of RO6885247 in Adult and Pediatric Patients With Spinal Muscular Atrophy (MOONFISH) Terminated NCT02240355 Phase 1
46 Intraventricular Transplantation of Mesenchymal Stem Cell in Patients With ALS Withdrawn NCT01759784 Phase 1
47 Quantitative Analysis of SMN1 and SMN2 Gene Based on DHPLC System Unknown status NCT00155168
48 Characterization of the Changes in the Signalling Pathways During Spinal Cord Injury-induced Skeletal Muscle Atrophy Unknown status NCT01470950
49 Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform. Unknown status NCT00154960
50 Clinical and Biomechanics Research in Core Muscles After Lumbar Fusion Surgery Unknown status NCT01703338

Search NIH Clinical Center for Spinal Muscular Atrophy-1

Genetic Tests for Spinal Muscular Atrophy-1

Genetic tests related to Spinal Muscular Atrophy-1:

id Genetic test Affiliating Genes
1 Werdnig-Hoffmann Disease 29

Anatomical Context for Spinal Muscular Atrophy-1

MalaCards organs/tissues related to Spinal Muscular Atrophy-1:

39
Spinal Cord, Brain, Tongue

Publications for Spinal Muscular Atrophy-1

Articles related to Spinal Muscular Atrophy-1:

id Title Authors Year
1
Spinal muscular atrophy-1 and gastrostomy. ( 25041302 )
2014

Variations for Spinal Muscular Atrophy-1

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy-1:

66
id Symbol AA change Variation ID SNP ID
1 SMN1 p.Tyr272Cys VAR_005617 rs104893922
2 SMN1 p.Gly279Val VAR_005620 rs76163360
3 SMN1 p.Ile116Phe VAR_034807 rs104893933
4 SMN1 p.Gln136Glu VAR_034808 rs104893934

ClinVar genetic disease variations for Spinal Muscular Atrophy-1:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1 IGHMBP2 NM_002180.2(IGHMBP2): c.1540G> A (p.Glu514Lys) single nucleotide variant Pathogenic rs137852665 GRCh37 Chromosome 11, 68701934: 68701934
2 IGHMBP2 NM_002180.2(IGHMBP2): c.638A> G (p.His213Arg) single nucleotide variant Pathogenic rs137852666 GRCh37 Chromosome 11, 68678998: 68678998
3 IGHMBP2 NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile) single nucleotide variant Pathogenic rs137852667 GRCh37 Chromosome 11, 68702872: 68702872
4 IGHMBP2 NM_002180.2(IGHMBP2): c.121C> T (p.Gln41Ter) single nucleotide variant Pathogenic rs137852668 GRCh37 Chromosome 11, 68673571: 68673571
5 IGHMBP2 NM_002180.2(IGHMBP2): c.675delT (p.Glu226Argfs) deletion Pathogenic rs786205089 GRCh38 Chromosome 11, 68911567: 68911567
6 IGHMBP2 NM_002180.2(IGHMBP2): c.707T> G (p.Leu236Ter) single nucleotide variant Pathogenic rs137852669 GRCh37 Chromosome 11, 68679067: 68679067
7 IGHMBP2 NM_002180.2(IGHMBP2): c.2611+1G> T single nucleotide variant Pathogenic rs786205090 GRCh38 Chromosome 11, 68937092: 68937092
8 IGHMBP2 NM_002180.2(IGHMBP2): c.1107C> G (p.Phe369Leu) single nucleotide variant Pathogenic rs137852670 GRCh37 Chromosome 11, 68696697: 68696697
9 IGHMBP2 NG_007976.1: g.(7904_7936)_(26407_26439)del deletion Pathogenic GRCh38 Chromosome 11, 68906754: 68925289
10 SMN1 SMN1, 11-BP DUP, 801-811 duplication Pathogenic
11 SMN1 NM_000344.3(SMN1): c.815A> G (p.Tyr272Cys) single nucleotide variant Pathogenic rs104893922 GRCh37 Chromosome 5, 70241984: 70241984
12 SMN1 NM_000344.3(SMN1): c.836G> T (p.Gly279Val) single nucleotide variant Pathogenic rs76163360 GRCh37 Chromosome 5, 70247769: 70247769
13 SMN1 SMN1, 5-BP DEL, 425 deletion Pathogenic
14 SMN1 SMN1, 4-BP DEL, 399AGAG deletion Pathogenic
15 SMN1 NM_000344.3(SMN1): c.332C> G (p.Ala111Gly) single nucleotide variant Pathogenic rs104893935 GRCh37 Chromosome 5, 70238243: 70238243
16 SMN1 NM_000344.3(SMN1): c.346A> T (p.Ile116Phe) single nucleotide variant Pathogenic rs104893933 GRCh37 Chromosome 5, 70238257: 70238257
17 SMN1 NM_000344.3(SMN1): c.406C> G (p.Gln136Glu) single nucleotide variant Pathogenic rs104893934 GRCh37 Chromosome 5, 70238317: 70238317

Expression for Spinal Muscular Atrophy-1

Search GEO for disease gene expression data for Spinal Muscular Atrophy-1.

Pathways for Spinal Muscular Atrophy-1

Pathways related to Spinal Muscular Atrophy-1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.55 COX14 SCO2

GO Terms for Spinal Muscular Atrophy-1

Cellular components related to Spinal Muscular Atrophy-1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.73 IGHMBP2 SMN1 SMN2 ZPR1
2 neuron projection GO:0043005 9.62 NAIP SMN1 SMN2 SYP
3 perikaryon GO:0043204 9.46 NAIP SMN1 SMN2 ZPR1
4 Cajal body GO:0015030 9.43 SMN1 SMN2 ZPR1
5 cytoplasmic ribonucleoprotein granule GO:0036464 9.4 SMN1 SMN2
6 SMN-Sm protein complex GO:0034719 9.37 SMN1 SMN2
7 Gemini of coiled bodies GO:0097504 9.13 SMN1 SMN2 ZPR1
8 SMN complex GO:0032797 8.92 IGHMBP2 SMN1 SMN2 ZPR1

Biological processes related to Spinal Muscular Atrophy-1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.58 SMN1 SMN2 ZPR1
2 RNA splicing GO:0008380 9.54 SMN1 SMN2 ZPR1
3 nervous system development GO:0007399 9.46 FKTN NAIP SMN1 SMN2
4 spliceosomal snRNP assembly GO:0000387 9.32 SMN1 SMN2
5 spliceosomal complex assembly GO:0000245 9.26 SMN1 SMN2
6 nuclear import GO:0051170 8.96 SMN1 SMN2
7 DNA-templated transcription, termination GO:0006353 8.62 SMN1 SMN2

Sources for Spinal Muscular Atrophy-1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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48 NDF-RT
51 NINDS
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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