SMA2
MCID: SPN395
MIFTS: 55

Spinal Muscular Atrophy, Type Ii (SMA2)

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

Aliases & Classifications for Spinal Muscular Atrophy, Type Ii

MalaCards integrated aliases for Spinal Muscular Atrophy, Type Ii:

Name: Spinal Muscular Atrophy, Type Ii 57 29 6
Sma Ii 57 12 20 72 54
Sma2 57 12 20 58 72
Muscular Atrophy, Spinal, Infantile Chronic Form 57 12 20
Muscular Atrophy, Spinal, Intermediate Type 57 12 20
Intermediate Spinal Muscular Atrophy 12 58 15
Spinal Muscular Atrophy Type Ii 12 20 72
Spinal Muscular Atrophy-2 57 13
Spinal Muscular Atrophy 2 12 72
Spinal Muscular Atrophy Infantile Chronic Form 72
Chronic Infantile Spinal Muscular Atrophy 58
Spinal Muscular Atrophy Intermediate Type 72
Proximal Spinal Muscular Atrophy Type 2 58
Spinal Muscular Atrophies of Childhood 44
Atrophy, Muscular, Spinal, Type Ii 39
Muscular Atrophy, Spinal, Type Ii 70
Chronic Spinal Muscular Atrophy 58
Spinal Muscular Atrophy Type 2 20
Dubowitz Disease 20
Sma Type Ii 58
Sma Type 2 58
Sma-Ii 58

Characteristics:

Orphanet epidemiological data:

58
proximal spinal muscular atrophy type 2
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
presentation between 6-18 months
death between 2 years of age and young adulthood
death secondary to respiratory infection or failure
child often can sit unsupported but never ambulates
deletions in naip gene found in 18% of smaii patients


HPO:

31
spinal muscular atrophy, type ii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050530
OMIM® 57 253550
MeSH 44 D014897
NCIt 50 C156310
SNOMED-CT 67 128212001
ICD10 via Orphanet 33 G12.1
UMLS via Orphanet 71 C0393538 C2931358
Orphanet 58 ORPHA83418
UMLS 70 C0393538

Summaries for Spinal Muscular Atrophy, Type Ii

GARD : 20 Spinal muscular atrophy type 2 (SMA2) is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Without treatment, progressive muscle weakness develops in babies with SMA2 between ages 6 and 12 months. Babies with SMA2 can sit without support, however, they cannot stand or walk independently. Feeding and breathing problems also develop. SMA2 is caused by changes (pathogenic variants also called mutations ) in the SMN1 gene and is inherited in an autosomal recessive manner. Diagnosis of SMA2 is suspected by symptoms and confirmed by genetic testing. SMA has been added to the list of recommended newborn screening tests in the United States, so that it can be detected prior to symptoms developing. This occurred because treatments are being developed that are changing the course of the disease. In December 2016, nusinersen (Spinraza) became the first FDA approved treatment for SMA2. Continued treatment with nusinersen is allowing many babies and children with SMA2 to reach and maintain age appropriate developmental milestones, including sitting, crawling, and walking. Breathing problems, nutrition problems, and hospital admissions also decrease in general. However, response to treatment does vary. Some children with SMA2 may not respond to the nusinersen at all or may have medical complications that prevent use of the treatment. Other treatments remain supportive.

MalaCards based summary : Spinal Muscular Atrophy, Type Ii, also known as sma ii, is related to spinal muscular atrophy, x-linked 2 and spinal muscular atrophy, and has symptoms including tremor of hands An important gene associated with Spinal Muscular Atrophy, Type Ii is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways/superpathways are VEGF Signaling and Human Embryonic Stem Cell Pluripotency. The drugs Acetaminophen and Analgesics, Non-Narcotic have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, tongue and lung, and related phenotypes are muscle weakness and recurrent respiratory infections

Disease Ontology : 12 A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has material basis in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.

OMIM® : 57 Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetric muscle weakness and atrophy (summary by Wirth, 2000). (253550) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Spinal muscular atrophy 2: An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. It has intermediate severity, with onset between 6 and 18 months. Patients do not reach the motor milestone of standing, and survive into adulthood.

Related Diseases for Spinal Muscular Atrophy, Type Ii

Diseases in the Spinal Muscular Atrophy family:

Spinal Muscular Atrophy, Type I Spinal Muscular Atrophy, Type Iii
Spinal Muscular Atrophy, Type Ii Spinal Muscular Atrophy, Type Iv
Spinal Muscular Atrophy Type 0 Congenital Benign Spinal Muscular Atrophy Dominant

Diseases related to Spinal Muscular Atrophy, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, x-linked 2 33.0 SMN2 SMN1
2 spinal muscular atrophy 32.6 SMN2 SMN1 PLS3 NAIP BICD2
3 childhood spinal muscular atrophy 32.1 UNC119 SMN2 SMN1 SMAD5 PLS3 NAIP
4 muscular atrophy 31.7 SMN2 SMN1 PLS3 NAIP BICD2
5 proximal spinal muscular atrophy 30.9 SMN2 SMN1 NAIP BICD2
6 neuromuscular disease 30.5 SMN2 SMN1 NCAM1 NAIP
7 anterior horn cell disease 30.5 SMN2 SMN1
8 motor neuron disease 30.4 SMN2 SMN1 NAIP BICD2
9 spinal muscular atrophy, type iii 30.4 UNC119 TUBB SMN2 SMN1 SMAD9 SMAD7
10 spinal muscular atrophy, type i 30.0 UNC119 SMN2 SMN1 PLS3 OR6C3 OR6C2
11 spinal muscular atrophy, distal, autosomal recessive, 2 11.7
12 distal hereditary motor neuronopathy type 2 11.3
13 spinal muscular atrophy with respiratory distress type 2 11.3
14 scoliosis 10.5
15 spinal muscular atrophy type 0 10.4 SMN2 SMN1
16 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.4 SMN2 SMN1
17 autosomal recessive distal hereditary motor neuronopathy 10.3 SMN2 SMN1
18 autosomal dominant non-syndromic intellectual disability 19 10.3 SMAD4 SMAD2
19 cataract 37 10.3 OR6C3 OR6C2
20 respiratory failure 10.3
21 chronic inflammatory demyelinating polyneuritis 10.3 SMN2 SMN1
22 fibrodysplasia ossificans progressiva 10.3 SMAD7 SMAD5 SMAD1
23 albinism, ocular, with late-onset sensorineural deafness 10.3 SMAD4 SMAD2
24 pulmonary hypertension, primary, 1 10.3 SMAD9 SMAD4 SMAD1
25 nephrogenic systemic fibrosis 10.3 SMAD7 SMAD4 SMAD2
26 loeys-dietz syndrome 10.3 SMAD6 SMAD4 SMAD2
27 muscular dystrophy 10.2
28 dysphagia 10.2
29 lung disease 10.2
30 pulmonary hypertension 10.2 SMAD9 SMAD4 SMAD2 SMAD1
31 spinal muscular atrophy, facioscapulohumeral type 10.2
32 cataract 21, multiple types 10.2 OR6C3 OR6C2
33 cataract 3, multiple types 10.1 OR6C3 OR6C2
34 candidiasis, familial, 1 10.1
35 myasthenia gravis 10.1
36 muscular dystrophy, duchenne type 10.1
37 diabetes mellitus, ketosis-prone 10.1
38 autosomal recessive disease 10.1
39 idiopathic scoliosis 10.1
40 hyperinsulinism 10.1
41 myopathy 10.1
42 hypoglycemia 10.1
43 hypotonia 10.1
44 body mass index quantitative trait locus 1 10.1
45 sleep apnea 10.1
46 ankylosis 10.1
47 bronchitis 10.1
48 loeys-dietz syndrome 3 10.0 SMAD6 SMAD2
49 amyotrophic lateral sclerosis 1 10.0
50 spinal muscular atrophy, late-onset, finkel type 10.0

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy, Type Ii:



Diseases related to Spinal Muscular Atrophy, Type Ii

Symptoms & Phenotypes for Spinal Muscular Atrophy, Type Ii

Human phenotypes related to Spinal Muscular Atrophy, Type Ii:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 recurrent respiratory infections 31 HP:0002205
3 emg abnormality 31 HP:0003457
4 degeneration of anterior horn cells 31 HP:0002398
5 hand tremor 31 HP:0002378
6 tongue fasciculations 31 HP:0001308
7 spinal muscular atrophy 31 HP:0007269

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
degeneration of anterior horn cells
hand tremor
muscle atrophy
emg shows neurogenic abnormalities
muscle weakness, symmetric, proximal (lower limbs more affected than upper limbs) due to motor neuronopathy
more

Clinical features from OMIM®:

253550 (Updated 05-Apr-2021)

UMLS symptoms related to Spinal Muscular Atrophy, Type Ii:


tremor of hands

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

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.74 SMAD5
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-113 9.74 SMAD5
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 9.74 SMAD5
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-140 9.74 SMAD5
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.74 INE2 NAIP SMAD5
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.74 SMAD5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.74 SMAD5
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-21 9.74 SMAD4
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.74 INE2 NAIP SMAD5
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.74 SMAD4
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-46 9.74 SMAD4
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-54 9.74 SMAD4
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.74 SMAD4 SMAD5
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 9.74 SMAD4
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 9.74 SMAD4
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.74 INE2 NAIP SMAD5
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.74 INE2 NAIP SMAD5

MGI Mouse Phenotypes related to Spinal Muscular Atrophy, Type Ii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.76 BICD2 SMAD1 SMAD2 SMAD4 SMAD5 SMAD7
2 muscle MP:0005369 9.5 SMAD1 SMAD4 SMAD5 SMAD6 SMAD7 SMAD9
3 normal MP:0002873 9.23 BICD2 SMAD1 SMAD2 SMAD4 SMAD5 SMAD7

Drugs & Therapeutics for Spinal Muscular Atrophy, Type Ii

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2 Analgesics, Non-Narcotic Phase 4
3 Analgesics Phase 4
4 Antipyretics Phase 4
5
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
6 Neurotransmitter Agents Phase 2, Phase 3
7 Anticonvulsants Phase 2, Phase 3
8 Excitatory Amino Acid Antagonists Phase 2, Phase 3
9 Neuroprotective Agents Phase 2, Phase 3
10 Protective Agents Phase 2, Phase 3
11
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
12
Valproic acid Approved, Investigational Phase 1, Phase 2 99-66-1 3121
13 Pyridostigmine Bromide Phase 2 101-26-8
14 Cholinergic Agents Phase 2
15 Cholinesterase Inhibitors Phase 2
16 Bromides Phase 2
17 Hormones Phase 2
18 carnitine Phase 1, Phase 2
19 Psychotropic Drugs Phase 1, Phase 2
20 Immunoglobulins, Intravenous Phase 2
21 Antibodies Phase 2
22 Immunoglobulin G Phase 2
23 Immunoglobulins Phase 2
24 Antibodies, Monoclonal Phase 2
25 4-phenylbutyric acid Phase 1, Phase 2

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy Recruiting NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
2 A Long-term Follow-up Study of Patients in the Clinical Trials for Spinal Muscular Atrophy Receiving AVXS-101 Enrolling by invitation NCT04042025 Phase 4
3 Multicentric, Randomized, Double-blind Study Versus Placebo, With Two Parallel Groups Treated to Evaluate the Efficacy and the Tolerance of Riluzole in Children and Young Adults (6 to 20 Years of Age) With SMA. (Type II and Type III) Completed NCT00774423 Phase 2, Phase 3 Riluzole
4 Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion Active, not recruiting NCT03837184 Phase 3
5 The Effectiveness of Allogeneic Adipose Derived Mesenchymal Stem Cells (ADMSCs) in the Phenotypic Changes of Werdnig Hoffman Patients Unknown status NCT02855112 Phase 1, Phase 2
6 Safety and Efficacy Study of Anti-cholinesterase Therapy on the Motor Functions in Patients With Spinal Muscular Atrophy Type 3. Unknown status NCT02227823 Phase 2 Pyridostigmine Bromide
7 Phase II, Multicenter, Randomized, Adaptive, Double-blind, Placebo Controlled Study to Assess Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Year Old Spinal Muscular Atrophy (SMA) Patients. Completed NCT01302600 Phase 2 Olesoxime;Placebo
8 A Phase II, Mono-center, Placebo-controlled, Double-blind, Crossover Trial to Investigate Effect and Efficacy of Pyridostigmine in Dutch Patients With Spinal Muscular Atrophy Types 2, 3 and 4 Completed NCT02941328 Phase 2 Pyridostigmine;Placebo
9 Can Treatment With Human Growth Hormone Increase Strength in Spinal Muscular Atrophy Type II and III? Completed NCT00533221 Phase 2 somatotropin;Placebo
10 A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients Completed NCT00568802 Phase 1, Phase 2 Hydroxyurea;Placebo to match hydroxyurea
11 A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients Completed NCT00568698 Phase 1, Phase 2 Hydroxyurea;Placebo to match hydroxyurea
12 Phase I/II Trial of Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy Type I (CARNI-VAL Type I) Completed NCT00661453 Phase 1, Phase 2 Valproic Acid and Levocarnitine
13 Phase 2 Active Treatment Study to Evaluate the Efficacy and Safety of SRK-015 in Patients With Later-Onset Spinal Muscular Atrophy (TOPAZ) Active, not recruiting NCT03921528 Phase 2
14 Phase I/IIa Clinical Trial of Sodium Phenylbutyrate in Pediatric Subjects With Type II/III Spinal Muscular Atrophy Terminated NCT00439569 Phase 1, Phase 2 sodium phenylbutyrate
15 Phase I/IIa Clinical Trial of Sodium Phenylbutyrate in Pediatric Subjects With Type I Spinal Muscular Atrophy Terminated NCT00439218 Phase 1, Phase 2 sodium phenylbutyrate
16 Phase I Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1 Delivering AVXS-101 Completed NCT02122952 Phase 1
17 Assessment of Motor Development Related to Use of Orthoses in SMA II and III Unknown status NCT00961103
18 Clinical Assessment of Spinal Muscular Atrophy Type II and III Completed NCT01611610
19 Evaluation of Palliative and Supportive Care for Spinal Muscular Atrophy (SMA) Type 1 Patients Completed NCT01862042
20 Controlled Trial Evaluating the Interest of Noninvasive Ventilation in NAVA Mode in Respiratory Decompensations Children With Infantile Spinal Muscular Atrophy Type II Recruiting NCT03395795
21 A Prospective, Multi-center, Observational Study of the Safety, Tolerability and Effectiveness of SPINRAZA® (Nusinersen) in Adult Patients With Spinal Muscular Atrophy Recruiting NCT03709784
22 A Long Term Follow up Safety Study of Patients in the AVXS-101-CL-101 Gene Replacement Therapy Clinical Trial for Spinal Muscular Atrophy Type 1 Delivering AVXS 101 Active, not recruiting NCT03421977
23 Physical Exercise and Neuromuscular Diseases: Pilot Study of an Innovative Physiotherapy in Patients With Infantile Spinal Muscular Atrophy Active, not recruiting NCT02061189
24 Effect of Nusinersen on Motor Function in Adult Patients With Spinal Muscular Atrophy Types 2 and 3 Active, not recruiting NCT03878030 nusinersen
25 Outcome Measures and Biomarkers in a Cohort of Spinal Muscular Atrophy Type III/ IV Patients Not yet recruiting NCT04690998
26 A Multicenter, Interventional, Open-label Study to Monitor the Evolution of Motor Function in SMA Type II Adults Patients Treated With SPINRAZA® Not yet recruiting NCT04159987
27 Study of the Functional Effects of Nusinersen in 5q-spinal Muscular Amyotrophy Adults (SMA Type 2 or 3 Forms): a Multicenter Single-case Experimental Design in Multiple Baselines Across Subjects, Randomized, Single-blinded Evaluation Not yet recruiting NCT04576494 Nusinersen

Search NIH Clinical Center for Spinal Muscular Atrophy, Type Ii

Cochrane evidence based reviews: spinal muscular atrophies of childhood

Genetic Tests for Spinal Muscular Atrophy, Type Ii

Genetic tests related to Spinal Muscular Atrophy, Type Ii:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy, Type Ii 29 SMN1

Anatomical Context for Spinal Muscular Atrophy, Type Ii

MalaCards organs/tissues related to Spinal Muscular Atrophy, Type Ii:

40
Spinal Cord, Tongue, Lung, Brain

Publications for Spinal Muscular Atrophy, Type Ii

Articles related to Spinal Muscular Atrophy, Type Ii:

(show top 50) (show all 127)
# Title Authors PMID Year
1
Unaffected patients with a homozygous absence of the SMN1 gene. 57 61
18337729 2008
2
Preservation of central motor conduction in patients with spinal muscular atrophy type II. 57 61
8747423 1995
3
Spinal muscular atrophy type II. A separate genetic and clinical entity from type I (Werdnig-Hoffmann disease) and type 3 (Kugelberg-Welander disease). 57 61
5146579 1971
4
A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA. 6
24498607 2013
5
Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females. 57
20937953 2010
6
In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. 57
16607616 2006
7
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. 57
16049920 2005
8
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. 6
15580564 2005
9
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. 57
14560316 2004
10
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene. 6
12872254 2003
11
Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. 6
11313744 2001
12
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). 57
10679938 2000
13
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. 6
9837824 1998
14
Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene. 6
9818944 1998
15
SMA type 2 unrelated to chromosome 5q13. 57
9450884 1998
16
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). 6
9158159 1997
17
Deletion analysis of the SMN and NAIP genes in Kuwaiti patients with spinal muscular atrophy. 57
8882869 1996
18
Unusual molecular findings in autosomal recessive spinal muscular atrophy. 57
8782046 1996
19
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. 6
7581461 1995
20
An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy. 57
8088801 1994
21
Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families. 57
1427826 1992
22
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. 57
1970420 1990
23
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. 57
2320125 1990
24
Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling. 57
4078864 1985
25
The genetic identity of acute infantile spinal muscular atrophy. 57
4743929 1973
26
Nusinersen: A Treatment for Spinal Muscular Atrophy. 20
30008228 2019
27
New and developing therapies in spinal muscular atrophy. 20
29703692 2018
28
Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy. 61
33761963 2021
29
Anesthetic management of pediatric patients undergoing intrathecal nusinersen administration for treatment of spinal muscular atrophy: A single-center experience. 61
32623818 2021
30
Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen. 61
33118682 2021
31
Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments. 61
33485382 2021
32
Effects of Tigecycline Combined with Azithromycin Against Biofilms of Multidrug-Resistant Stenotrophomonas maltophilia Isolates from a Patient in China. 61
33679134 2021
33
A novel BR-SMAD is required for larval development in barber's pole worm Haemonchus contortus. 61
33553419 2020
34
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3. 61
32917822 2020
35
Brain MRI abnormalities in a child with spinal muscular atrophy type II. 61
33079332 2020
36
Early Results of a Management Algorithm for Collapsing Spine Deformity in Young Children (Below 10-Year Old) With Spinal Muscular Atrophy Type II. 61
32501901 2020
37
Preparation of porous antibacterial polyamide 6 (PA6) membrane with zinc oxide (ZnO) nanoparticles selectively localized at the pore walls via reactive extrusion. 61
32041003 2020
38
Early Results of a Management Algorithm for Collapsing Spine Deformity in Young Children (Below 10-Year Old) With Spinal Muscular Atrophy Type II. 61
31834235 2019
39
Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II. 61
31201046 2019
40
Synthesis of All Stereoisomers of Monomeric Spectomycin A1/A2 and Evaluation of Their Protein SUMOylation-Inhibitory Activity. 61
30887578 2019
41
Effects of long-term non-invasive ventilation on sleep structure in children with Spinal Muscular Atrophy type 2. 61
31132576 2019
42
The effect of two different aerobic training modalities in a child with spinal muscular atrophy type II: a case report. 61
31111020 2019
43
Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II. 61
30340076 2019
44
[Respiratory care in spinal muscular atrophy in the new therapeutic era]. 61
30725056 2018
45
Self-assembly and biological activities of ionic liquid crystals derived from aromatic amino acids. 61
30043016 2018
46
Electrocardiographic Evaluation in Patients With Spinal Muscular Atrophy: A Case-Control Study. 61
29687752 2018
47
Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study. 61
29327642 2018
48
A New Method for Measuring Bell-Shaped Chest Induced by Impaired Ribcage Muscles in Spinal Muscular Atrophy Children. 61
30271372 2018
49
Functional characterization of the Ca2+-ATPase SMA1 from Schistosoma mansoni. 61
29229760 2018
50
Modifier genes: Moving from pathogenesis to therapy. 61
28684086 2017

Variations for Spinal Muscular Atrophy, Type Ii

ClinVar genetic disease variations for Spinal Muscular Atrophy, Type Ii:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMN1 NM_000344.3(SMN1):c.821C>T (p.Thr274Ile) SNV Pathogenic 9164 rs1554066666 GRCh37: 5:70241990-70241990
GRCh38: 5:70946163-70946163
2 SMN1 NM_000344.3(SMN1):c.5C>G (p.Ala2Gly) SNV Pathogenic 9168 rs1554066397 GRCh37: 5:70220935-70220935
GRCh38: 5:70925108-70925108
3 SMN1 SMN1, EX8DEL Deletion Pathogenic 9169 GRCh37:
GRCh38:
4 SMN1 NM_000344.3(SMN1):c.305G>A (p.Trp102Ter) SNV Pathogenic 9173 rs77804083 GRCh37: 5:70238216-70238216
GRCh38: 5:70942389-70942389
5 SMN1 NM_022874.2(SMN1):c.397_398AG[1] (p.Glu134fs) Microsatellite Pathogenic 634947 rs77668214 GRCh37: 5:70238308-70238311
GRCh38: 5:70942481-70942484
6 SMN1 NM_000344.3(SMN1):c.88G>A (p.Asp30Asn) SNV Pathogenic 9175 rs104893930 GRCh37: 5:70234672-70234672
GRCh38: 5:70938845-70938845
7 SMN1 NM_000344.3(SMN1):c.332C>G (p.Ala111Gly) SNV Pathogenic 9177 rs104893935 GRCh37: 5:70238243-70238243
GRCh38: 5:70942416-70942416
8 SMN1 Deletion Pathogenic 431179 rs1554082110 GRCh37: 5:70241892-70242002
GRCh38: 5:70946065-70946175
9 SMN1 NM_000344.3(SMN1):c.48_55dup (p.Val19fs) Duplication Pathogenic 634931 rs1561498701 GRCh37: 5:70220977-70220978
GRCh38: 5:70925150-70925151
10 SMN1 NM_000344.3(SMN1):c.662C>T (p.Pro221Leu) SNV Uncertain significance 634932 rs1336155324 GRCh37: 5:70240519-70240519
GRCh38: 5:70944692-70944692

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Type Ii:

72
# Symbol AA change Variation ID SNP ID
1 SMN1 p.Ala2Gly VAR_005615 rs75030631
2 SMN1 p.Thr274Ile VAR_005618 rs76871093
3 SMN1 p.Gly279Cys VAR_007990 rs77969175
4 SMN1 p.Asp30Asn VAR_034803 rs104893930
5 SMN1 p.Ala111Gly VAR_034806 rs104893935

Expression for Spinal Muscular Atrophy, Type Ii

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Type Ii.

Pathways for Spinal Muscular Atrophy, Type Ii

Pathways related to Spinal Muscular Atrophy, Type Ii according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.4 SMAD7 SMAD6 SMAD5 SMAD4 SMAD2 SMAD1
2
Show member pathways
12.39 SMAD9 SMAD5 SMAD4 SMAD2 SMAD1
3
Show member pathways
12.38 SMAD6 SMAD4 SMAD2 SMAD1
4 12.18 SMAD9 SMAD5 SMAD4 SMAD2 SMAD1
5 12.08 SMAD7 SMAD6 SMAD4 SMAD2 SMAD1
6 12.05 SMAD7 SMAD4 SMAD2 SMAD1
7 12.03 SMAD9 SMAD5 SMAD4 SMAD2 SMAD1
8 11.92 SMAD7 SMAD4 SMAD2
9
Show member pathways
11.79 SMAD9 SMAD5 SMAD4 SMAD2 SMAD1
10 11.78 SMAD9 SMAD7 SMAD5 SMAD4 SMAD2 SMAD1
11 11.65 SMAD7 SMAD4 SMAD2
12 11.62 SMAD7 SMAD4 SMAD2
13
Show member pathways
11.6 SMAD7 SMAD4 SMAD2
14
Show member pathways
11.49 SMAD9 SMAD7 SMAD6 SMAD5 SMAD4 SMAD1
15 11.47 SMAD9 SMAD7 SMAD6 SMAD5 SMAD4 SMAD2
16 11.45 SMAD7 SMAD4 SMAD2
17 11.11 SMAD9 SMAD5 SMAD1
18
Show member pathways
11.09 SMAD9 SMAD7 SMAD5 SMAD4 SMAD1
19 11.05 SMAD9 SMAD5 SMAD4 SMAD1
20 10.93 SMAD9 SMAD7 SMAD6 SMAD5 SMAD4 SMAD2
21 10.89 SMAD4 SMAD2
22 10.86 SMAD4 SMAD2
23 10.8 SMAD9 SMAD5 SMAD1
24 10.71 SMAD9 SMAD5 SMAD4 SMAD1

GO Terms for Spinal Muscular Atrophy, Type Ii

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.22 UNC119 TUBB SMN2 SMN1 SMAD9 SMAD7
2 cytosol GO:0005829 10.13 UNC119 SMN2 SMN1 SMAD9 SMAD7 SMAD6
3 chromatin GO:0000785 10.02 SMAD9 SMAD7 SMAD6 SMAD5 SMAD4 SMAD2
4 protein-containing complex GO:0032991 9.88 TUBB SMAD7 SMAD6 SMAD5 SMAD2 SMAD1
5 transcription factor complex GO:0005667 9.7 SMAD9 SMAD7 SMAD6 SMAD5 SMAD4 SMAD2
6 cytoplasmic ribonucleoprotein granule GO:0036464 9.63 TUBB SMN2 SMN1
7 SMN-Sm protein complex GO:0034719 9.51 SMN2 SMN1
8 Gemini of coiled bodies GO:0097504 9.49 SMN2 SMN1
9 SMN complex GO:0032797 9.43 SMN2 SMN1
10 activin responsive factor complex GO:0032444 9.37 SMAD4 SMAD2
11 SMAD protein complex GO:0071141 9.35 SMAD9 SMAD5 SMAD4 SMAD2 SMAD1
12 heteromeric SMAD protein complex GO:0071144 9.17 SMAD9 SMAD7 SMAD6 SMAD5 SMAD4 SMAD2

Biological processes related to Spinal Muscular Atrophy, Type Ii according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.16 SMAD9 SMAD7 SMAD6 SMAD5 SMAD4 SMAD2
2 cell differentiation GO:0030154 10.09 SMAD9 SMAD7 SMAD6 SMAD5 SMAD4 SMAD2
3 protein deubiquitination GO:0016579 9.9 SMAD7 SMAD4 SMAD2 SMAD1
4 anatomical structure morphogenesis GO:0009653 9.8 SMAD9 SMAD7 SMAD6 SMAD5 SMAD4 SMAD2
5 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.77 SMAD7 SMAD6 SMAD2
6 ureteric bud development GO:0001657 9.77 SMAD7 SMAD6 SMAD5 SMAD2 SMAD1
7 bone development GO:0060348 9.73 SMAD5 SMAD1 PLS3
8 cellular response to BMP stimulus GO:0071773 9.71 SMAD9 SMAD5 SMAD4 SMAD1
9 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.7 SMAD6 SMAD4 SMAD1
10 transforming growth factor beta receptor signaling pathway GO:0007179 9.7 SMAD9 SMAD7 SMAD6 SMAD5 SMAD4 SMAD2
11 embryonic pattern specification GO:0009880 9.65 SMAD5 SMAD2 SMAD1
12 negative regulation of ossification GO:0030279 9.63 SMAD7 SMAD6
13 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.63 SMAD7 SMAD4 SMAD2
14 import into nucleus GO:0051170 9.62 SMN2 SMN1
15 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.62 SMAD9 SMAD5 SMAD4 SMAD1
16 secondary palate development GO:0062009 9.61 SMAD4 SMAD2
17 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 9.61 SMAD7 SMAD6
18 SMAD protein complex assembly GO:0007183 9.61 SMAD4 SMAD2 SMAD1
19 primary miRNA processing GO:0031053 9.58 SMAD2 SMAD1
20 DNA-templated transcription, termination GO:0006353 9.58 SMN2 SMN1
21 response to laminar fluid shear stress GO:0034616 9.57 SMAD7 SMAD6
22 regulation of binding GO:0051098 9.54 SMAD4 SMAD2
23 zygotic specification of dorsal/ventral axis GO:0007352 9.51 SMAD6 SMAD2
24 BMP signaling pathway GO:0030509 9.5 SMAD9 SMAD7 SMAD6 SMAD5 SMAD4 SMAD2
25 osteoblast fate commitment GO:0002051 9.49 SMAD5 SMAD1
26 SMAD protein signal transduction GO:0060395 9.17 SMAD9 SMAD7 SMAD6 SMAD5 SMAD4 SMAD2

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.8 SMAD9 SMAD7 SMAD6 SMAD5 SMAD4 SMAD2
2 ubiquitin protein ligase binding GO:0031625 9.77 TUBB SMAD7 SMAD6 SMAD5 SMAD2
3 R-SMAD binding GO:0070412 9.5 SMAD6 SMAD4 SMAD2
4 DEAD/H-box RNA helicase binding GO:0017151 9.4 SMAD5 SMAD1
5 co-SMAD binding GO:0070410 9.33 SMAD6 SMAD2 SMAD1
6 I-SMAD binding GO:0070411 9.17 SMAD9 SMAD7 SMAD6 SMAD5 SMAD4 SMAD2
7 type I transforming growth factor beta receptor binding GO:0034713 9.13 SMAD7 SMAD6 SMAD2

Sources for Spinal Muscular Atrophy, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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