Spinal Muscular Atrophy, Type Iii (SMA3)

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

Aliases & Classifications for Spinal Muscular Atrophy, Type Iii

MalaCards integrated aliases for Spinal Muscular Atrophy, Type Iii:

Name: Spinal Muscular Atrophy, Type Iii 57
Kugelberg-Welander Disease 12 54 59 29 6
Sma3 57 12 53 59 74
Juvenile Spinal Muscular Atrophy 12 59 15 72
Kugelberg-Welander Syndrome 57 53 74
Sma Iii 57 74 55
Kws 57 53 74
Spinal Muscular Atrophy, Mild Childhood and Adolescent Form 57 53
Muscular Atrophy, Juvenile 57 53
Spinal Muscular Atrophy-3 57 13
Spinal Muscular Atrophy Mild Childhood and Adolescent Form 74
Spinal Muscular Atrophy, Type Iii, Modifier of 57
Proximal Spinal Muscular Atrophy Type 3 59
Spinal Muscular Atrophy of Childhood 12
Wohlfart-Kugelberg-Welander Disease 74
Atrophy, Muscular, Spinal, Type Iii 40
Spinal Muscular Atrophy, Familial 12
Kugelberg-Welander Syndrome; Kws 57
Type Iii Spinal Muscular Atrophy 12
Spinal Muscular Atrophy Type Iii 74
Spinal Muscular Atrophy Type 3 53
Spinal Muscular Atrophy 3 74
Sma Type Iii 59
Sma Type 3 59
Sma-Iii 59
Sma 3 53


Orphanet epidemiological data:

proximal spinal muscular atrophy type 3
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy;


autosomal recessive

progressive disorder
onset usually in childhood or adolescence
presentation after 18 months
individuals develop ability to stand and walk
deletions in naip gene () found in 18% of sma2 patients


spinal muscular atrophy, type iii:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Orphanet: 59  
Rare neurological diseases

External Ids:

Disease Ontology 12 DOID:12376
OMIM 57 253400
ICD9CM 35 335.11
MeSH 44 D014897
SNOMED-CT 68 54280009
ICD10 via Orphanet 34 G12.1
UMLS via Orphanet 73 C0152109
Orphanet 59 ORPHA83419
MedGen 42 C0152109
UMLS 72 C0152109 C0700595

Summaries for Spinal Muscular Atrophy, Type Iii

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 83419DefinitionProximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.EpidemiologyPrevalence is estimated at around 1/375,000.Clinical descriptionThe disease manifests after 12 months of age (usually between childhood and adolescence), after ambulation has been acquired. Two subtypes (SMA3a and SMA3b) have been distinguished by some authors: SMA3a defines patients with onset before the age of 3 years, whereas SMA3b defines patients with onset after 3 years. Difficulties walking, running, and going up and down stairs are common. The muscle weakness predominantly affects the legs and hip muscles and then progresses to the shoulders and arms. Legs are always more severely affected than arms. Weak finger trembling and scoliosis are frequent and the patellar reflex is absent.EtiologyAs for other forms of SMA, SMA3 is primarily caused by deletions in the SMN1 gene (5q12.2-q13.3) encoding the SMN (survival motor neuron) protein. Although there is some variation, disease severity in SMA is inversely correlated with the number of copies of the second SMN gene (SMN2; 5q13.2), with patients with MSA3 having three (SMA3a) or four (SMA3b) SMN2copies. Deletions of the NAIP (5q13.1) gene, which may play a role in modifying disease severity, have also been identified in SMA3 patients but are less frequent than in individuals with SMA1 and 2.Diagnostic methodsDiagnosis is based on clinical history and examination but is confirmed by genetic testing. Electromyography and muscle biopsy may be necessary.Differential diagnosisDifferential diagnoses include amyotrophic lateral sclerosis, congenital muscular dystrophies, congenital myopathies, primary lateral sclerosis, myasthenia gravis, and carbohydrate metabolism disorders (see these terms).Antenatal diagnosisAntenatal diagnosis is possible through molecular analysis of amniocytes or chorionic villus samples.Genetic counselingTransmission is autosomal recessive but around 2% of cases are caused by de novo mutations. Genetic counseling should be offered to patients and their families.Management and treatmentClinical trials to identify specific drug treatments for SMA are ongoing, and preliminary studies have indicated that valproic acid (as a histone deacetylase inhibitor) may improve quantitative muscle strength and subjective motor function in SMA3 patients. However, at present, management is symptomatic, involving a multidisciplinary approach aiming to improve quality of life. Physiotherapy and occupational therapies are recommended.PrognosisA wheelchair may be required during childhood for some patients (more commonly those with SMA3a), whilst others retain the ability to walk into adulthood (more commonly those with SMA3b). SMA3 progresses slowly and life expectancy is usually normal. However, deformities of the vertebral column are frequent and complications may lead to respiratory restriction.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinal Muscular Atrophy, Type Iii, also known as kugelberg-welander disease, is related to survival motor neuron spinal muscular atrophy and proximal spinal muscular atrophy, and has symptoms including muscle cramp and tremor of hands. An important gene associated with Spinal Muscular Atrophy, Type Iii is SMN1 (Survival Of Motor Neuron 1, Telomeric). The drugs Acetaminophen and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and tongue, and related phenotypes are emg abnormality and tongue fasciculations

OMIM : 57 SMA is an autosomal recessive neuromuscular disorder characterized by progressive proximal muscle weakness and atrophy affecting the upper and lower limbs. By convention, SMA is classified into 4 types: I (SMA1; 253300), II (SMA2; 253550), III (SMA3), and IV (271150), by increasing age at onset and decreasing clinical severity. SMA1 is the most severe form of the disorder and often results in death in early childhood. SMA3, known as the juvenile form, tends to show onset in childhood or adolescence (summary by Fraidakis et al., 2012). (253400)

NINDS : 54 Spinal Muscular Atrophy refers to a group of hereditary diseases that damages and kills specialized nerve cells in the brain and spinal cord (called motor neurons). Motor neurons control movement in the arms, legs, face, chest, throat, and tongue, as well as skeletal muscle activity including speaking, walking, swallowing, and breathing. The most common form of SMA is caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. This form of SMA has four types: • Type l, also called Werdnig-Hoffman disease or infantile-onset SMA, is usually evident before 6 months of age. The most severely affected children will have reduced movement and chronic shortening of muscles or tendons (called contractures). Other children may have symptoms including reduced muscle tone, lack of tendon reflexes, twitching, skeletal abnormalities, and problems swallowing and feeding. Without treatment, many affected children die before age 2 years. • SMA Type ll is usually first noticed between the 6 and 18 months of age. Children can sit without support but are unable to stand or walk unaided. Children also may have respiratory difficulties. Life expectancy is reduced but most individuals live into adolescence or young adulthood. • SMA Type lll (Kugelberg-Welander disease) is seen after age 18 months. Children can walk independently but may have difficulty walking or running, rising from a chair, or climbing stairs. Other complications may include curvature of the spine, contractures, and respiratory infections. With treatment, most individuals can have a normal lfespan. • Individuals with SMA Type IV develop symptoms after age 21 years, with mild to moderate leg muscle weakness and other symptoms.

UniProtKB/Swiss-Prot : 74 Spinal muscular atrophy 3: 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. Onset is after 18 months. Patients develop ability to stand and walk and survive into adulthood.

Related Diseases for Spinal Muscular Atrophy, Type Iii

Diseases in the Spinal Muscular Atrophy family:

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

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

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 survival motor neuron spinal muscular atrophy 33.1 SMN2 SMN1 NAIP
2 proximal spinal muscular atrophy 32.0 SMN2 SMN1 NAIP
3 spinal muscular atrophy 31.9 VAPB SMN2 SMN1 PLS3 NAIP
4 spinal muscular atrophy, type ii 30.7 SMN2 SMN1 NAIP
5 muscular atrophy 30.6 VAPB SMN2 SMN1 NAIP
6 neuromuscular disease 30.5 SMN2 SMN1 NAIP
7 progressive muscular atrophy 30.4 SMN2 SMN1
8 spinal muscular atrophy, type i 30.2 SMN2 SMN1 NAIP
9 anterior horn cell disease 29.8 SMN2 SMN1
10 motor neuron disease 29.5 VAPB SMN2 SMN1 NAIP
11 amyotrophic lateral sclerosis 1 29.2 VAPB SMN2 SMN1 NAIP
12 spinal muscular atrophy, distal, autosomal recessive, 3 11.8
13 neuronopathy, distal hereditary motor, type i 11.6
14 amyotrophy, monomelic 11.5
15 spinal muscular atrophy, distal, x-linked 3 11.5
16 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 11.4
17 spinal muscular atrophy with lower extremity predominance 11.4
18 atrioventricular block 10.6
19 atrial standstill 1 10.5
20 dilated cardiomyopathy 10.5
21 atrial standstill 10.5
22 progressive familial heart block, type ia 10.3
23 facioscapulohumeral muscular dystrophy 1 10.3
24 spinal and bulbar muscular atrophy, x-linked 1 10.3
25 kearns-sayre syndrome 10.3
26 progressive familial heart block, type ib 10.3
27 nephrotic syndrome 10.3
28 right bundle branch block 10.3
29 glomerulonephritis 10.3
30 limb-girdle muscular dystrophy 10.3
31 wallerian degeneration 10.3
32 syncope 10.3
33 spinal muscular atrophy, late-onset, finkel type 10.3
34 strabismus 10.3
35 muscular dystrophy, duchenne type 10.3
36 pallister w syndrome 10.3
37 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations 10.3
38 scoliosis 10.3
39 ptosis 10.3
40 lipoid nephrosis 10.3
41 alternating exotropia 10.3
42 exotropia 10.3
43 myopia 10.3
44 inflammatory spondylopathy 10.3
45 restrictive cardiomyopathy 10.3
46 spondylitis 10.3
47 mechanical strabismus 10.3
48 myotonic dystrophy 10.3
49 myotonia atrophica 10.3
50 arthrogryposis multiplex congenita, neurogenic type 10.3 SMN2 SMN1

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

Diseases related to Spinal Muscular Atrophy, Type Iii

Symptoms & Phenotypes for Spinal Muscular Atrophy, Type Iii

Human phenotypes related to Spinal Muscular Atrophy, Type Iii:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 emg abnormality 32 HP:0003457
2 tongue fasciculations 32 HP:0001308
3 spinal muscular atrophy 32 HP:0007269
4 areflexia of lower limbs 32 HP:0002522
5 hyporeflexia 32 HP:0001265
6 proximal muscle weakness 32 HP:0003701
7 limb fasciculations 32 HP:0007289
8 hand tremor 32 HP:0002378
9 degeneration of anterior horn cells 32 HP:0002398
10 muscle spasm 32 HP:0003394

Symptoms via clinical synopsis from OMIM:

Muscle Soft Tissue:
muscle cramps
proximal muscle weakness and atrophy
chronic denervation seen on emg
neuropathic process seen on muscle biopsy

Neurologic Central Nervous System:
hand tremor
degeneration of anterior horn cells
muscle weakness, symmetric, proximal (lower limbs more affected than upper limbs) due to motor neuronopathy
tongue fasciculation/fibrillation
limb fasciculation

Neurologic Peripheral Nervous System:
areflexia of the lower limbs

Clinical features from OMIM:


UMLS symptoms related to Spinal Muscular Atrophy, Type Iii:

muscle cramp, tremor of hands

Drugs & Therapeutics for Spinal Muscular Atrophy, Type Iii

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Acetaminophen Approved Phase 4 103-90-2 1983
2 Analgesics Phase 4
3 Analgesics, Non-Narcotic Phase 4
4 Peripheral Nervous System Agents Phase 4
5 Antipyretics Phase 4
4-Aminopyridine Approved Phase 2, Phase 3 504-24-5 1727
7 Potassium Channel Blockers Phase 2, Phase 3
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
Amifampridine Approved, Investigational Phase 2 54-96-6
11 Cholinergic Agents Phase 2
12 Pyridostigmine Bromide Phase 2 101-26-8
13 Cholinesterase Inhibitors Phase 2
14 Bromides Phase 2
15 Nucleic Acid Synthesis Inhibitors Phase 1, Phase 2
16 Neurotransmitter Agents Phase 2
17 Anticonvulsants Phase 2
18 Central Nervous System Depressants Phase 2
19 Psychotropic Drugs Phase 2
20 carnitine Phase 2
21 GABA Agents Phase 2
22 Tranquilizing Agents Phase 2
23 Antimanic Agents Phase 2
24 Neuromuscular Agents Phase 2
Dexmedetomidine Approved, Vet_approved Phase 1 113775-47-6 68602 5311068
26 Pharmaceutical Solutions Phase 1
27 Adrenergic alpha-2 Receptor Agonists Phase 1
28 Adrenergic Agonists Phase 1
29 Adrenergic alpha-Agonists Phase 1
30 Hypnotics and Sedatives Phase 1
31 Anesthetics Phase 1
32 Adrenergic Agents Phase 1

Interventional clinical trials:

(show all 16)
# 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 Columbia SMA Project: 4-AP as a Potential SMA Therapeutic Agent and Biological Mechanisms of Action Completed NCT01645787 Phase 2, Phase 3 4-aminopyridine;Placebo
3 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
4 A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients Unknown status NCT00568802 Phase 1, Phase 2 Hydroxyurea
5 Multi-center Phase II Trial of Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy (SMA CARNI-VAL Trial) Completed NCT00227266 Phase 2 Valproic Acid and Levocarnitine;Placebo
6 A Randomized, Placebo-Controlled, Crossover Study to Evaluate the Safety and Efficacy of Amifampridine Phosphate in Ambulatory Patients With Spinal Muscular Atrophy (SMA) Type 3 Recruiting NCT03781479 Phase 2 Amifampridine Phosphate;Placebo Oral Tablet
7 Long Term Safety Study of Amifampridine Phosphate in Ambulatory Patients With Spinal Muscular Atrophy (SMA) Type 3 Enrolling by invitation NCT03819660 Phase 2 Amifampridine Phosphate 10 MG Oral Tablet
8 Effect and Placental Transfer of Dexmedetomidine During Caesarean Section Under Epidural Anaesthesia Completed NCT02715154 Phase 1 Dexmedetomidine;Placebo
9 A Dose - Dependent Study of Dexmedetomidine in Suppressing Cardiovascular and Hormonal Responses for Cesarean Delivery Completed NCT01005433 Phase 1 Dexmedetomidine;Placebo
10 Assessment of Motor Development Related to Use of Orthoses in SMA II and III Unknown status NCT00961103
11 A Pilot Study of Biomarkers for Spinal Muscular Atrophy Completed NCT00756821
12 Aerobic Training Improves Oxidative Capacity, But Not Function in Spinal Muscular Atrophy III Completed NCT02003937
13 International Spinal Muscular Atrophy Patient Registry Completed NCT00466349
14 Evaluation of Oxidative Capacity and Exercise Tolerance in Ambulatory Patients With Spinal Muscular Atrophy (SMA) Recruiting NCT02895789
15 Prospective Evaluation of Infants With Spinal Muscular Atrophy: SPOT SMA Recruiting NCT02831296
16 Effect of Whole Body Vibration Therapy on Muscle Function, Gross Motor Function and Bone Mineral Density in Children With Spinal Muscular Atrophy - a Feasibility Study Terminated NCT03056144

Search NIH Clinical Center for Spinal Muscular Atrophy, Type Iii

Genetic Tests for Spinal Muscular Atrophy, Type Iii

Genetic tests related to Spinal Muscular Atrophy, Type Iii:

# Genetic test Affiliating Genes
1 Kugelberg-Welander Disease 29 SMN1 SMN2

Anatomical Context for Spinal Muscular Atrophy, Type Iii

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

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

Publications for Spinal Muscular Atrophy, Type Iii

Articles related to Spinal Muscular Atrophy, Type Iii:

(show top 50) (show all 100)
# Title Authors PMID Year
Genotype-phenotype relationship in 2 SMA III patients with novel mutations in the Tudor domain. 8 71
22323744 2012
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. 9 8
11791208 2002
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. 9 8
8595417 1995
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. 8
28132687 2017
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 8
22981120 2012
A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites. 8
21610747 2011
A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype. 8
20705738 2010
Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females. 8
20937953 2010
Ciliary neurotrophic factor-induced sprouting preserves motor function in a mouse model of mild spinal muscular atrophy. 8
20022887 2010
A positive modifier of spinal muscular atrophy in the SMN2 gene. 8
19716110 2009
Differences in SMN1 allele frequencies among ethnic groups within North America. 8
19625283 2009
Unaffected patients with a homozygous absence of the SMN1 gene. 8
18337729 2008
Consensus statement for standard of care in spinal muscular atrophy. 71
17761659 2007
Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy. 8
16775228 2006
In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. 8
16607616 2006
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. 8
16508748 2006
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. 8
16049920 2005
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. 71
15580564 2005
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. 8
14560316 2004
Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. 8
12915451 2003
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. 71
12872254 2003
Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. 71
11313744 2001
Spinal Muscular Atrophy 71
20301526 2000
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. 71
10339583 1999
Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. 8
10215553 1999
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. 71
9837824 1998
Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene. 71
9818944 1998
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). 71
9158159 1997
Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations. 8
8900246 1996
Unusual molecular findings in autosomal recessive spinal muscular atrophy. 8
8782046 1996
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. 71
7581461 1995
Pulmonary function in spinal muscular atrophy. 8
7930415 1994
Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy. 8
8116617 1994
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. 8
2320125 1990
Becker's allelic model to explain unusual pedigrees with spinal muscular atrophy. 8
3594936 1987
Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling. 8
4078864 1985
Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence. 8
6512833 1984
A genetic study of subacute and chronic spinal muscular atrophy in childhood. A nosological analysis of 124 index patients. 8
681978 1978
A clinical and genetic study of chronic proximal spinal muscular atrophy. 8
1182487 1975
Chronic spinal muscular atrophy in adults. 1. The Kugelberg-Welander syndrome. 8
5367043 1969
Kugelberg-Welander disease with particular reference to sex-influenced manifestations. 8
5675302 1968
14288637 1965
Neurogenic, familial, girdle type muscular atrophy. (Clinical, electromyographic and pathological study). 8
13990174 1963
[Apropos of heredofamilial juvenile muscular atrophy]. 8
13961045 1962
Heredofamilial juvenile muscular atrophy simulating muscular dystrophy. 8
13312732 1956
Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III. 9 38
10655542 2000
Segmental distribution of muscle weakness in SMA III: implications for deterioration in muscle strength with time. 9 38
9447610 1997
Inhospital Complications of Patients With Neuromuscular Disorders Undergoing Total Joint Arthroplasty. 38
30285988 2019
Exercise Combined with Electrotherapy Enhances Motor Function in an Adolescent with Spinal Muscular Atrophy Type III. 38
31428487 2019
[Respiratory care in spinal muscular atrophy in the new therapeutic era]. 38
30725056 2018

Variations for Spinal Muscular Atrophy, Type Iii

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

6 (show all 17)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SMN1 NM_000344.3(SMN1): c.5C> G (p.Ala2Gly) single nucleotide variant Pathogenic rs75030631 5:70220935-70220935 5:70925108-70925108
2 SMN1 SMN1, EX8DEL deletion Pathogenic
3 SMN1 SMN1, IVS7DS, T-G, +6 single nucleotide variant Pathogenic
4 SMN1 NM_000344.3(SMN1): c.131A> T (p.Asp44Val) single nucleotide variant Pathogenic rs104893931 5:70234715-70234715 5:70938888-70938888
5 SMN1 NM_000344.3(SMN1): c.305G> A (p.Trp102Ter) single nucleotide variant Pathogenic rs77804083 5:70238216-70238216 5:70942389-70942389
6 SMN1 SMN1, 4-BP DEL, 399AGAG deletion Pathogenic
7 SMN1 NM_000344.3(SMN1): c.283G> C (p.Gly95Arg) single nucleotide variant Pathogenic rs104893927 5:70238194-70238194 5:70942367-70942367
8 SMN1 NM_000344.3(SMN1): c.784A> G (p.Ser262Gly) single nucleotide variant Pathogenic rs104893932 5:70241953-70241953 5:70946126-70946126
9 SMN1 NM_000344.3(SMN1): c.389A> G (p.Tyr130Cys) single nucleotide variant Pathogenic rs397514517 5:70238300-70238300 5:70942473-70942473
10 SMN1 NM_000344.3(SMN1): c.388T> C (p.Tyr130His) single nucleotide variant Pathogenic rs397514518 5:70238299-70238299 5:70942472-70942472
11 SMN1 SMN1, DEL deletion Pathogenic
12 SMN1 NM_000344.3(SMN1): c.724-2A> G single nucleotide variant Pathogenic 5:70241891-70241891 5:70946064-70946064
13 SMN1 deletion Pathogenic rs1554082110 5:70241893-70242003 5:70946066-70946176
14 SMN2 NM_017411.3(SMN2): c.859G> C (p.Gly287Arg) single nucleotide variant Pathogenic,risk factor rs121909192 5:69372372-69372372 5:70076545-70076545
15 SMN1 NM_000344.3(SMN1): c.785G> T (p.Ser262Ile) single nucleotide variant Pathogenic/Likely pathogenic rs1554066659 5:70241954-70241954 5:70946127-70946127
16 SMN1 NM_000344.3(SMN1): c.821C> T (p.Thr274Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs76871093 5:70241990-70241990 5:70946163-70946163
17 SMN1 NM_000344.3(SMN1): c.278A> C (p.Lys93Thr) single nucleotide variant Uncertain significance 5:70238189-70238189 5:70942362-70942362

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

# Symbol AA change Variation ID SNP ID
1 SMN1 p.Ala2Gly VAR_005615 rs75030631
2 SMN1 p.Ser262Ile VAR_005616 rs75660264
3 SMN1 p.Thr274Ile VAR_005618 rs76871093
4 SMN1 p.Gly275Ser VAR_005619 rs77301881
5 SMN1 p.Gly279Cys VAR_007990 rs77969175
6 SMN1 p.Pro245Leu VAR_010051 rs75586164
7 SMN1 p.Asp44Val VAR_034804 rs104893931
8 SMN1 p.Gly95Arg VAR_034805 rs104893927
9 SMN1 p.Ser262Gly VAR_034809 rs104893932

Expression for Spinal Muscular Atrophy, Type Iii

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

Pathways for Spinal Muscular Atrophy, Type Iii

GO Terms for Spinal Muscular Atrophy, Type Iii

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.97 VAPB ULK1 SRA1 SMN2 SMN1 PLS3
2 Cajal body GO:0015030 9.32 SMN2 SMN1
3 cytoplasmic ribonucleoprotein granule GO:0036464 9.26 SMN2 SMN1
4 SMN-Sm protein complex GO:0034719 9.16 SMN2 SMN1
5 SMN complex GO:0032797 8.96 SMN2 SMN1
6 Gemini of coiled bodies GO:0097504 8.62 SMN2 SMN1

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

# Name GO ID Score Top Affiliating Genes
1 spliceosomal snRNP assembly GO:0000387 9.26 SMN2 SMN1
2 spliceosomal complex assembly GO:0000245 9.16 SMN2 SMN1
3 import into nucleus GO:0051170 8.96 SMN2 SMN1
4 DNA-templated transcription, termination GO:0006353 8.62 SMN2 SMN1

Sources for Spinal Muscular Atrophy, Type Iii

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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