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 53 58 29 6
Sma3 57 12 20 58 73
Juvenile Spinal Muscular Atrophy 12 58 15 71
Kugelberg-Welander Syndrome 57 20 73
Sma Iii 57 73 54
Kws 57 20 73
Spinal Muscular Atrophy, Mild Childhood and Adolescent Form 57 20
Spinal Muscular Atrophy Type 3 12 20
Muscular Atrophy, Juvenile 57 20
Spinal Muscular Atrophy-3 57 13
Spinal Muscular Atrophy Mild Childhood and Adolescent Form 73
Spinal Muscular Atrophy, Type Iii, Modifier of 57
Proximal Spinal Muscular Atrophy Type 3 58
Wohlfart-Kugelberg-Welander Disease 73
Atrophy, Muscular, Spinal, Type Iii 39
Kugelberg-Welander Syndrome; Kws 57
Type Iii Spinal Muscular Atrophy 12
Spinal Muscular Atrophy Type Iii 73
Spinal Muscular Atrophy 3 73
Sma Type Iii 58
Sma Type 3 58
Sma-Iii 58
Sma 3 20


Orphanet epidemiological data:

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


57 (Updated 05-Mar-2021)
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: 58  
Rare neurological diseases

External Ids:

Disease Ontology 12 DOID:12376
OMIM® 57 253400
ICD9CM 34 335.11
MeSH 44 D014897
NCIt 50 C118847
SNOMED-CT 67 54280009
ICD10 via Orphanet 33 G12.1
UMLS via Orphanet 72 C0152109
Orphanet 58 ORPHA83419
MedGen 41 C0152109
UMLS 71 C0152109

Summaries for Spinal Muscular Atrophy, Type Iii

GARD : 20 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 proximal spinal muscular atrophy and 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), and among its related pathways/superpathways are ALK1 signaling events and Differentiation of white and brown adipocyte. The drugs Hydroxyurea and Amifampridine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, tongue and skeletal muscle, and related phenotypes are emg abnormality and hyporeflexia

Disease Ontology : 12 A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk.

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) (Updated 05-Mar-2021)

NINDS : 53 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 : 73 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
Spinal Muscular Atrophy Type 0 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 95)
# Related Disease Score Top Affiliating Genes
1 proximal spinal muscular atrophy 32.2 SMN2 SMN1 NAIP
2 spinal muscular atrophy 32.2 SMN2 SMN1 SERF1B SERF1A PLS3 NAIP
3 muscular atrophy 31.2 SMN2 SMN1 SERF1B SERF1A PLS3 NAIP
4 spinal muscular atrophy, type iv 31.1 TUBB SNORD63 SMN2 SMN1 SMAD5 SMAD1
5 neuromuscular disease 30.7 SMN2 SMN1 NAIP CHKB
6 anterior horn cell disease 30.6 SMN2 SMN1
7 spinal muscular atrophy, type i 30.2 UNC119 SMN2 SMN1 PLS3 OR6C3 NAIP
8 progressive muscular atrophy 30.0 SMN2 SMN1
9 spinal muscular atrophy, type ii 29.8 UNC119 TUBB SMN2 SMN1 SMAD5 SMAD1
10 spinal muscular atrophy, distal, autosomal recessive, 3 11.7
11 neuronopathy, distal hereditary motor, type i 11.5
12 spinal muscular atrophy, distal, x-linked 3 11.4
13 amyotrophy, monomelic 11.3
14 werdnig-hoffman disease 11.3
15 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 11.2
16 spinal muscular atrophy with lower extremity predominance 11.2
17 spinal muscular atrophy type 0 10.4 SMN2 SMN1
18 spinal muscular atrophy, x-linked 2 10.4 SMN2 SMN1
19 myasthenic syndrome, congenital, 18 10.4 SERF1B SERF1A
20 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.4 SMN2 SMN1
21 locked-in syndrome 10.4 SERF1B SERF1A
22 atrioventricular block 10.4
23 chronic inflammatory demyelinating polyneuritis 10.4 SMN2 SMN1
24 autosomal recessive distal hereditary motor neuronopathy 10.4 SMN2 SMN1 ATP7A
25 form agnosia 10.4 SERF1B SERF1A
26 spinal muscular atrophy, distal, autosomal recessive, 4 10.3 SMN2 SMN1
27 spinal muscular atrophy, distal, autosomal recessive, 1 10.3 SMN2 SMN1
28 dilated cardiomyopathy 10.3
29 atrial standstill 10.3
30 spinal disease 10.3 SMN2 SMN1 NAIP
31 dubowitz syndrome 10.3 SMN2 SMN1
32 spinal muscular atrophy with progressive myoclonic epilepsy 10.2 SMN2 SMN1
33 atrial standstill 1 10.1
34 progressive familial heart block, type ia 10.1
35 facioscapulohumeral muscular dystrophy 1 10.1
36 spinal and bulbar muscular atrophy, x-linked 1 10.1
37 kearns-sayre syndrome 10.1
38 progressive familial heart block, type ib 10.1
39 lipoid nephrosis 10.1
40 nephrotic syndrome 10.1
41 right bundle branch block 10.1
42 glomerulonephritis 10.1
43 myopathy 10.1
44 limb-girdle muscular dystrophy 10.1
45 wallerian degeneration 10.1
46 syncope 10.1
47 spinal muscular atrophy, late-onset, finkel type 10.1
48 strabismus 10.1
49 muscular dystrophy, duchenne type 10.1
50 pallister w syndrome 10.1

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 emg abnormality 31 HP:0003457
2 hyporeflexia 31 HP:0001265
3 muscle spasm 31 HP:0003394
4 proximal muscle weakness 31 HP:0003701
5 degeneration of anterior horn cells 31 HP:0002398
6 hand tremor 31 HP:0002378
7 limb fasciculations 31 HP:0007289
8 areflexia of lower limbs 31 HP:0002522
9 tongue fasciculations 31 HP:0001308
10 spinal muscular atrophy 31 HP:0007269

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Peripheral Nervous System:
areflexia of the lower limbs

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

Clinical features from OMIM®:

253400 (Updated 05-Mar-2021)

UMLS symptoms related to Spinal Muscular Atrophy, Type Iii:

muscle cramp, tremor of hands

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

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.78 GTF2H2 GTF2H2C
2 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.78 PLS3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.78 GTF2H2 GTF2H2C
4 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.78 TUBB
5 Increased shRNA abundance (Z-score > 2) GR00366-A-142 9.78 GTF2H2 GTF2H2C
6 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.78 GTF2H2 GTF2H2C
7 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.78 TUBB
8 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.78 TUBB
9 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.78 TUBB
10 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.78 PLS3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.78 PLS3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.78 PLS3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.78 GTF2H2 GTF2H2C
14 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.78 TUBB
15 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.78 TUBB
16 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.78 GTF2H2 GTF2H2C TUBB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.78 GTF2H2 GTF2H2C
18 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.78 TUBB
19 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.78 GTF2H2 GTF2H2C
20 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.78 TUBB

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 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
Amifampridine Approved, Investigational Phase 2 54-96-6 5918
3 Anticonvulsants Phase 2
4 Pyridostigmine Bromide Phase 2 101-26-8
5 Neurotransmitter Agents Phase 2
6 Cholinesterase Inhibitors Phase 2
7 Cholinergic Agents Phase 2
8 Bromides Phase 2
9 Potassium Channel Blockers Phase 2

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 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
2 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
3 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 Completed NCT03781479 Phase 2 Amifampridine Phosphate;Placebo Oral Tablet
4 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
5 Wearable Technology to Assess Gait Function in Spinal Muscle Atrophy and Duchenne Muscular Dystrophy Recruiting NCT04193085
6 Evaluation of Oxidative Capacity and Exercise Tolerance in Ambulatory Patients With Spinal Muscular Atrophy (SMA) Active, not recruiting NCT02895789
7 Outcome Measures and Biomarkers in a Cohort of Spinal Muscular Atrophy Type III/ IV Patients Not yet recruiting NCT04690998
8 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, Tongue, Skeletal Muscle, Bone

Publications for Spinal Muscular Atrophy, Type Iii

Articles related to Spinal Muscular Atrophy, Type Iii:

(show top 50) (show all 108)
# Title Authors PMID Year
Genotype-phenotype relationship in 2 SMA III patients with novel mutations in the Tudor domain. 57 6
22323744 2012
Clinical Variability in Spinal Muscular Atrophy Type III. 57 61
32926458 2020
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. 54 57
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. 57 54
8595417 1995
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. 57
28132687 2017
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 57
22981120 2012
A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites. 57
21610747 2011
A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype. 57
20705738 2010
Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females. 57
20937953 2010
Ciliary neurotrophic factor-induced sprouting preserves motor function in a mouse model of mild spinal muscular atrophy. 57
20022887 2010
A positive modifier of spinal muscular atrophy in the SMN2 gene. 57
19716110 2009
Differences in SMN1 allele frequencies among ethnic groups within North America. 57
19625283 2009
Unaffected patients with a homozygous absence of the SMN1 gene. 57
18337729 2008
Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy. 57
16775228 2006
In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. 57
16607616 2006
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. 57
16508748 2006
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. 57
16049920 2005
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. 6
15580564 2005
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. 57
14560316 2004
Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. 57
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. 6
12872254 2003
Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. 6
11313744 2001
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. 6
10339583 1999
Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. 57
10215553 1999
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
Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene. 6
9818944 1998
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). 6
9158159 1997
Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations. 57
8900246 1996
Unusual molecular findings in autosomal recessive spinal muscular atrophy. 57
8782046 1996
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. 6
7581461 1995
Pulmonary function in spinal muscular atrophy. 57
7930415 1994
Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy. 57
8116617 1994
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. 57
2320125 1990
Becker's allelic model to explain unusual pedigrees with spinal muscular atrophy. 57
3594936 1987
Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling. 57
4078864 1985
Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence. 57
6512833 1984
A genetic study of subacute and chronic spinal muscular atrophy in childhood. A nosological analysis of 124 index patients. 57
681978 1978
A clinical and genetic study of chronic proximal spinal muscular atrophy. 57
1182487 1975
Chronic spinal muscular atrophy in adults. 1. The Kugelberg-Welander syndrome. 57
5367043 1969
Kugelberg-Welander disease with particular reference to sex-influenced manifestations. 57
5675302 1968
14288637 1965
Neurogenic, familial, girdle type muscular atrophy. (Clinical, electromyographic and pathological study). 57
13990174 1963
[Apropos of heredofamilial juvenile muscular atrophy]. 57
13961045 1962
Heredofamilial juvenile muscular atrophy simulating muscular dystrophy. 57
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. 61 54
10655542 2000
Segmental distribution of muscle weakness in SMA III: implications for deterioration in muscle strength with time. 54 61
9447610 1997
Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments. 61
33485382 2021
Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease). 61
33357593 2020
Spinal muscular atrophy type III complicated by spinal superficial siderosis: a case report with molecular and neuropathological findings. 61
33168084 2020
Increased C-X-C Motif Chemokine Ligand 12 Levels in Cerebrospinal Fluid as a Candidate Biomarker in Sporadic Amyotrophic Lateral Sclerosis. 61
33213069 2020

Variations for Spinal Muscular Atrophy, Type Iii

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

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMN1 SMN1, IVS7DS, T-G, +6 SNV Pathogenic 9170
2 SMN1 NM_000344.3(SMN1):c.131A>T (p.Asp44Val) SNV Pathogenic 9172 rs104893931 5:70234715-70234715 5:70938888-70938888
3 SMN1 NM_000344.3(SMN1):c.283G>C (p.Gly95Arg) SNV Pathogenic 9176 rs104893927 5:70238194-70238194 5:70942367-70942367
4 SMN1 NM_000344.3(SMN1):c.784A>G (p.Ser262Gly) SNV Pathogenic 9178 rs104893932 5:70241953-70241953 5:70946126-70946126
5 SMN1 NM_000344.3(SMN1):c.389A>G (p.Tyr130Cys) SNV Pathogenic 39512 rs397514517 5:70238300-70238300 5:70942473-70942473
6 SMN1 NM_000344.3(SMN1):c.388T>C (p.Tyr130His) SNV Pathogenic 39513 rs397514518 5:70238299-70238299 5:70942472-70942472
7 SMN1 SMN1, DEL Deletion Pathogenic 39514
8 SMN1 NM_000344.3(SMN1):c.724-2A>G SNV Pathogenic 634942 rs1561500842 5:70241891-70241891 5:70946064-70946064
9 SMN1 NM_000344.3(SMN1):c.821C>T (p.Thr274Ile) SNV Pathogenic 9164 rs1554066666 5:70241990-70241990 5:70946163-70946163
10 SMN1 NM_000344.3(SMN1):c.5C>G (p.Ala2Gly) SNV Pathogenic 9168 rs1554066397 5:70220935-70220935 5:70925108-70925108
11 SMN1 SMN1, EX8DEL Deletion Pathogenic 9169
12 SMN1 NM_000344.3(SMN1):c.305G>A (p.Trp102Ter) SNV Pathogenic 9173 rs77804083 5:70238216-70238216 5:70942389-70942389
13 SMN1 NM_022874.2(SMN1):c.397_398AG[1] (p.Glu134fs) Microsatellite Pathogenic 634947 rs77668214 5:70238308-70238311 5:70942481-70942484
14 SMN1 Deletion Pathogenic 431179 rs1554082110 5:70241892-70242002 5:70946065-70946175
15 SMN2 NM_017411.3(SMN2):c.859G>C (p.Gly287Arg) SNV Pathogenic 7962 rs121909192 5:69372372-69372372 5:70076545-70076545
16 SMN1 NM_000344.3(SMN1):c.785G>T (p.Ser262Ile) SNV Likely pathogenic 9165 rs1554066659 5:70241954-70241954 5:70946127-70946127
17 SMN1 NM_000344.4(SMN1):c.379T>C (p.Tyr127His) SNV Likely pathogenic 870142 5:70238290-70238290 5:70942463-70942463
18 SMN1 NM_000344.3(SMN1):c.278A>C (p.Lys93Thr) SNV Uncertain significance 638580 rs1580886828 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

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

# Super pathways Score Top Affiliating Genes
Show member pathways
10.75 SMAD5 SMAD1
2 10.65 SMAD5 SMAD1
3 10.5 SMAD5 SMAD1
4 10.07 SMAD5 SMAD1
5 9.66 SMAD5 SMAD1

GO Terms for Spinal Muscular Atrophy, Type Iii

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.28 UNC119 TUBB SMN2 SMN1 SMAD5 SMAD1
2 cytosol GO:0005829 10.26 UNC119 SMN2 SMN1 SMAD5 SMAD1 SERF1B
3 protein-containing complex GO:0032991 9.89 TUBB SMAD5 SMAD1 SERF1B SERF1A
4 SMN-Sm protein complex GO:0034719 9.46 SMN2 SMN1
5 cytoplasmic ribonucleoprotein granule GO:0036464 9.43 TUBB SMN2 SMN1
6 transcription factor TFIIH holo complex GO:0005675 9.4 GTF2H2C GTF2H2
7 Gemini of coiled bodies GO:0097504 9.37 SMN2 SMN1
8 transcription factor TFIIH core complex GO:0000439 9.32 GTF2H2C GTF2H2
9 SMN complex GO:0032797 9.16 SMN2 SMN1
10 heteromeric SMAD protein complex GO:0071144 8.96 SMAD5 SMAD1
11 SMAD protein complex GO:0071141 8.62 SMAD5 SMAD1

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

# Name GO ID Score Top Affiliating Genes
1 cartilage development GO:0051216 9.5 SMAD5 SMAD1 ATP7A
2 embryonic pattern specification GO:0009880 9.48 SMAD5 SMAD1
3 spliceosomal complex assembly GO:0000245 9.46 SMN2 SMN1
4 import into nucleus GO:0051170 9.43 SMN2 SMN1
5 amyloid fibril formation GO:1990000 9.4 SERF1B SERF1A
6 DNA-templated transcription, termination GO:0006353 9.37 SMN2 SMN1
7 bone development GO:0060348 9.33 SMAD5 SMAD1 PLS3
8 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.26 SMAD5 SMAD1
9 nervous system development GO:0007399 9.1 UNC119 SMN2 SMN1 SERF1B SERF1A NAIP
10 osteoblast fate commitment GO:0002051 8.96 SMAD5 SMAD1

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

# Name GO ID Score Top Affiliating Genes
1 I-SMAD binding GO:0070411 8.96 SMAD5 SMAD1
2 DEAD/H-box RNA helicase binding GO:0017151 8.62 SMAD5 SMAD1

Sources for Spinal Muscular Atrophy, Type Iii

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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