SMA3
MCID: SPN394
MIFTS: 48

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 58
Kugelberg-Welander Disease 60 30 6
Sma Iii 58 76 56
Sma3 58 60 76
Juvenile Spinal Muscular Atrophy 60 74
Kugelberg-Welander Syndrome 58 76
Spinal Muscular Atrophy-3 58 13
Kws 58 76
Spinal Muscular Atrophy, Mild Childhood and Adolescent Form 58
Spinal Muscular Atrophy Mild Childhood and Adolescent Form 76
Spinal Muscular Atrophy, Type Iii, Modifier of 58
Proximal Spinal Muscular Atrophy Type 3 60
Wohlfart-Kugelberg-Welander Disease 76
Atrophy, Muscular, Spinal, Type Iii 41
Kugelberg-Welander Syndrome; Kws 58
Spinal Muscular Atrophy Type Iii 76
Muscular Atrophy, Juvenile 58
Spinal Muscular Atrophy 3 76
Sma Type Iii 60
Sma Type 3 60
Sma-Iii 60

Characteristics:

Orphanet epidemiological data:

60
proximal spinal muscular atrophy type 3
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
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


HPO:

33
spinal muscular atrophy, type iii:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 253400
MeSH 45 D014897
ICD10 via Orphanet 35 G12.1
UMLS via Orphanet 75 C0152109
Orphanet 60 ORPHA83419
MedGen 43 C0152109
UMLS 74 C0152109

Summaries for Spinal Muscular Atrophy, Type Iii

NINDS : 55 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.

MalaCards based summary : Spinal Muscular Atrophy, Type Iii, also known as kugelberg-welander disease, is related to spinal muscular atrophy, type i 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), and among its related pathways/superpathways is RNA transport. The drugs Hydroxyurea and Amifampridine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, tongue and brain, and related phenotypes are emg abnormality and areflexia of lower limbs

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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
Juvenile Spinal Muscular Atrophy 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 51)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, type i 32.2 NAIP SMN1 SMN2
2 proximal spinal muscular atrophy 30.9 NAIP SMN1 SMN2
3 spinal muscular atrophy 30.2 NAIP SMN1 SMN2
4 muscular atrophy 30.2 NAIP SMN1 SMN2
5 spinal muscular atrophy, type ii 29.8 NAIP SMN1 SMN2
6 progressive muscular atrophy 29.6 SMN1 SMN2
7 juvenile spinal muscular atrophy 29.5 NAIP SMN1 SMN2
8 amyotrophy, monomelic 11.4
9 neuronopathy, distal hereditary motor, type i 11.4
10 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 11.2
11 spinal muscular atrophy with lower extremity predominance 11.2
12 neutrophil migration 10.4
13 facioscapulohumeral muscular dystrophy 1 10.3
14 muscular dystrophy, becker type 10.3
15 dilated cardiomyopathy 10.3
16 nephrotic syndrome 10.3
17 limb-girdle muscular dystrophy 10.3
18 atrial standstill 10.3
19 frasier syndrome 10.2
20 coronary heart disease 1 10.1
21 heart disease 10.1
22 polyglucosan body myopathy 1 with or without immunodeficiency 10.0
23 sleep apnea 10.0
24 atrial heart septal defect 10.0
25 muscular dystrophy 10.0
26 methane production 10.0
27 pulmonary alveolar microlithiasis 10.0
28 retinitis pigmentosa 10.0
29 bornholm eye disease 10.0
30 horns in sheep 10.0
31 hepatitis 10.0
32 scoliosis 10.0
33 idiopathic scoliosis 10.0
34 hepatitis c 10.0
35 streptococcal group a invasive disease 10.0
36 tremor 10.0
37 spinal muscular atrophy, type iv 9.9 SMN1 SMN2
38 arthrogryposis multiplex congenita, neurogenic type 9.9 SMN1 SMN2
39 culler-jones syndrome 9.9 SMN1 SMN2
40 distal hereditary motor neuropathies 9.9
41 spinal muscular atrophy, distal, autosomal recessive, 1 9.9 SMN1 SMN2
42 spinal disease 9.9 SMN1 SMN2
43 anterior horn cell disease 9.8 SMN1 SMN2
44 peripheral nervous system disease 9.7 SMN1 SMN2
45 nervous system disease 9.6 SMN1 SMN2
46 survival motor neuron spinal muscular atrophy 9.5 NAIP SMN1 SMN2
47 muscle tissue disease 9.5 NAIP SMN1 SMN2
48 neuromuscular disease 9.5 NAIP SMN1 SMN2
49 motor neuron disease 9.5 NAIP SMN1 SMN2
50 amyotrophic lateral sclerosis 1 9.3 NAIP SMN1 SMN2

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:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 emg abnormality 33 HP:0003457
2 areflexia of lower limbs 33 HP:0002522
3 hyporeflexia 33 HP:0001265
4 proximal muscle weakness 33 HP:0003701
5 limb fasciculations 33 HP:0007289
6 spinal muscular atrophy 33 HP:0007269
7 hand tremor 33 HP:0002378
8 tongue fasciculations 33 HP:0001308
9 degeneration of anterior horn cells 33 HP:0002398
10 muscle spasm 33 HP:0003394

Symptoms via clinical synopsis from OMIM:

58
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:
hyporeflexia
areflexia of the lower limbs

Clinical features from OMIM:

253400

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 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
2
Amifampridine Approved, Investigational Phase 2 54-96-6
3 Pyridostigmine Bromide Phase 2 101-26-8
4 Cholinesterase Inhibitors Phase 2
5 Neurotransmitter Agents Phase 2
6 Cholinergic Agents Phase 2
7 Anticonvulsants Phase 2
8 Bromides Phase 2
9 Nucleic Acid Synthesis Inhibitors Phase 1, Phase 2
10 Peripheral Nervous System Agents Phase 2
11 Potassium Channel Blockers Phase 2
12 Neuromuscular Agents Phase 2
13 Immunoglobulins Phase 2
14 Antibodies, Monoclonal Phase 2
15 Antibodies Phase 2
16 Immunoglobulin G Phase 2
17 4-phenylbutyric acid Phase 1, Phase 2

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy Study of Pyridostigmine on 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 Unknown status NCT00568802 Phase 1, Phase 2 Hydroxyurea
3 Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Years SMA Patients. Completed NCT01302600 Phase 2 Olesoxime;Placebo
4 SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4 Completed NCT02941328 Phase 2 Pyridostigmine;Placebo
5 Controlled Trial to Evaluate Amifampridine Phosphate in Spinal Muscular Atrophy Type 3 Patients Recruiting NCT03781479 Phase 2 Amifampridine Phosphate;Placebo Oral Tablet
6 An Active Treatment Study of SRK-015 in Patients With Type 2 or Type 3 Spinal Muscular Atrophy Recruiting NCT03921528 Phase 2
7 Long Term Safety of Amifampridine Phosphate in Spinal Muscular Atrophy 3 Enrolling by invitation NCT03819660 Phase 2 Amifampridine Phosphate 10 MG Oral Tablet
8 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Types II or III Terminated NCT00439569 Phase 1, Phase 2 sodium phenylbutyrate
9 Motor Development and Orthoses in Spinal Muscular Atrophy (SMA) Unknown status NCT00961103
10 Aerobic Training in Patients With Spinal Muscular Atrophy Type III Completed NCT02003937 Not Applicable
11 International SMA Patient Registry Completed NCT00466349
12 A Pilot Study of Biomarkers for Spinal Muscular Atrophy Completed NCT00756821
13 Oxidative Capacity and Exercise Tolerance in Ambulatory SMA Recruiting NCT02895789
14 Spinraza in Adult Spinal Muscular Atrophy Recruiting NCT03709784
15 Prospective Evaluation of Infants With Spinal Muscular Atrophy: Recruiting NCT02831296
16 Whole Body Vibration Therapy in Children With Spinal Muscular Atrophy Terminated NCT03056144 Not Applicable

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 30 SMN1 SMN2

Anatomical Context for Spinal Muscular Atrophy, Type Iii

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

42
Spinal Cord, Tongue, Brain, Skeletal Muscle, Heart, Eye, Neutrophil

Publications for Spinal Muscular Atrophy, Type Iii

Articles related to Spinal Muscular Atrophy, Type Iii:

(show all 49)
# Title Authors Year
1
An Unusual Cause of Obstructive Sleep Apnea in a Man With Spinal Muscular Atrophy Type III. ( 30176968 )
2018
2
Atrial Septal Defect, Neuromuscular Junction and Skeletal Abnormalities in Spinal Muscular Atrophy Type III. ( 28937047 )
2017
3
Compensatory axon sprouting for very slow axonal die-back in a transgenic model of spinal muscular atrophy type III. ( 27891608 )
2017
4
Spinal muscular atrophy type III: Molecular genetic characterization of Turkish patients. ( 26548498 )
2015
5
The role of electrocardiography in the diagnosis of spinal muscular atrophy type III. ( 25661413 )
2015
6
Anaesthesia and orphan disease: a patient with spinal muscular atrophy type III (Wohlfart-Kugelberg-Welander syndrome) undergoing laparoscopic cholecystectomy. ( 25159053 )
2015
7
Training improves oxidative capacity, but not function, in spinal muscular atrophy type III. ( 25418505 )
2015
8
Spinal muscular atrophy type III: trying to understand subtle functional change over time--a case report. ( 22156787 )
2012
9
Reversal of neuromuscular blockade with sugammadex in a patient with spinal muscular atrophy type III (Kugelberg-Welander syndrome). ( 22198219 )
2012
10
Genotype-phenotype relationship in 2 SMA III patients with novel mutations in the Tudor domain. ( 22323744 )
2012
11
Dexmedetomidine for awake fiberoptic intubation in a parturient with spinal muscular atrophy type III for cesarean delivery. ( 19733055 )
2009
12
Conservative care of temporomandibular joint disorder in a 35-year-old patient with spinal muscular atrophy type III: a case study. ( 19948309 )
2009
13
An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease). ( 18410269 )
2009
14
Malignant ventricular arrhythmia in a case of adult onset of spinal muscular atrophy (Kugelberg-Welander disease). ( 19175839 )
2009
15
Compensatory mechanisms during walking in response to muscle weakness in spinal muscular atrophy, type III. ( 17980600 )
2008
16
Consensus statement for standard of care in spinal muscular atrophy. ( 17761659 )
2007
17
Atypical presentations of spinal muscular atrophy type III (Kugelberg-Welander disease). ( 16797181 )
2006
18
Cardiac involvement in Kugelberg-Welander disease: a case report and review. ( 17170627 )
2006
19
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. ( 15580564 )
2005
20
Anaesthesia for caesarean section in spinal muscular atrophy type III. ( 15321401 )
2004
21
Dilated cardiomyopathy in Kugelberg-Welander disease: coexisting sleep disordered breathing and its treatment with continuous positive airway pressure. ( 15575246 )
2004
22
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. ( 12872254 )
2003
23
Schistosoma mansoni: molecular characterization of a tegumental Ca-ATPase (SMA3). ( 11560414 )
2001
24
Hodgkin's disease complicated by the nephrotic syndrome in a man with Kugelberg-Welander disease. ( 11699426 )
2001
25
Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. ( 11313744 )
2001
26
Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III. ( 10655542 )
2000
27
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. ( 10339583 )
1999
28
Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene. ( 9818944 )
1998
29
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. ( 9837824 )
1998
30
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). ( 9158159 )
1997
31
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. ( 7581461 )
1995
32
Progressive subcutaneous and periarticular calcifications in a patient with spinal muscular atrophy type III. ( 8719752 )
1995
33
Pathological case of the month. Type 3 spinal muscular atrophy (Kugelberg-Welander disease). ( 8322756 )
1993
34
Differentiation of Becker muscular dystrophy from limb-girdle muscular dystrophy and Kugelberg-Welander disease using a cDNA probe. ( 2255288 )
1990
35
ACTH and steroids in Kugelberg-Welander disease. ( 1965389 )
1990
36
Sensory neuron degeneration in familial Kugelberg-Welander disease. ( 2924211 )
1989
37
Association of cardiomyopathy with Kugelberg-Welander disease. ( 7118527 )
1982
38
Juvenile spinal muscular atrophy (Wohlfart Kugelberg Welander Disease): a case report. ( 977103 )
1976
39
Kugelberg-Welander Disease. ( 4443596 )
1974
40
Spinal muscular atrophy type II. A separate genetic and clinical entity from type I (Werdnig-Hoffmann disease) and type 3 (Kugelberg-Welander disease). ( 5146579 )
1971
41
Werdnig-Hoffmann-Wohlfart-Kugelberg-Welander disease. Nosological unity and clinical variability in intrafamilial cases. ( 5568110 )
1971
42
Proximal neurogenic muscular atrophy in adolescence and adulthood with X-linked recessive inheritance. Kugelberg-Welander disease and its variant of late onset in one pedigree. ( 5529907 )
1970
43
Neurogenic muscular atrophy simulating facioscapulohumeral muscular dystrophy with particular reference to the heterogeneity of Kugelberg-Welander disease. ( 5345117 )
1969
44
"Myopathic" EMG changes correlated with histopathology in Wohlfart-Kugelberg-Welander disease. ( 4183477 )
1969
45
Progressive ophthalmoplegia in Kugelberg-Welander disease. Report of a case. ( 5766489 )
1969
46
Myopathic electromyographic changes correlated with histopathology in Wohlfart-Kugelberg-Welander disease. ( 5813372 )
1969
47
Postmortem findings in a case of Wohlfart-Kugelberg-Welander disease. ( 4236559 )
1968
48
Kugelberg-Welander disease with particular reference to sex-influenced manifestations. ( 5675302 )
1968
49
THE WOHLFART-KUGELBERG-WELANDER DISEASE; REVIEW OF THE LITERATURE AND REPORT OF A CASE. ( 14288637 )
1965

Variations for Spinal Muscular Atrophy, Type Iii

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

76
# 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

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

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMN2 NM_017411.3(SMN2): c.859G> C (p.Gly287Arg) single nucleotide variant Pathogenic,risk factor rs121909192 GRCh37 Chromosome 5, 69372372: 69372372
2 SMN2 NM_017411.3(SMN2): c.859G> C (p.Gly287Arg) single nucleotide variant Pathogenic,risk factor rs121909192 GRCh38 Chromosome 5, 70076545: 70076545
3 SMN1 NM_000344.3(SMN1): c.821C> T (p.Thr274Ile) single nucleotide variant Pathogenic rs1554066666 GRCh37 Chromosome 5, 70241990: 70241990
4 SMN1 NM_000344.3(SMN1): c.821C> T (p.Thr274Ile) single nucleotide variant Pathogenic rs1554066666 GRCh38 Chromosome 5, 70946163: 70946163
5 SMN1 NM_000344.3(SMN1): c.785G> T (p.Ser262Ile) single nucleotide variant Pathogenic rs1554066659 GRCh37 Chromosome 5, 70241954: 70241954
6 SMN1 NM_000344.3(SMN1): c.785G> T (p.Ser262Ile) single nucleotide variant Pathogenic rs1554066659 GRCh38 Chromosome 5, 70946127: 70946127
7 SMN1 NM_000344.3(SMN1): c.5C> G (p.Ala2Gly) single nucleotide variant Pathogenic rs1554066397 GRCh37 Chromosome 5, 70220935: 70220935
8 SMN1 NM_000344.3(SMN1): c.5C> G (p.Ala2Gly) single nucleotide variant Pathogenic rs1554066397 GRCh38 Chromosome 5, 70925108: 70925108
9 SMN1 SMN1, EX8DEL deletion Pathogenic
10 SMN1 SMN1, IVS7DS, T-G, +6 single nucleotide variant Pathogenic
11 SMN1 NM_000344.3(SMN1): c.131A> T (p.Asp44Val) single nucleotide variant Pathogenic rs104893931 GRCh37 Chromosome 5, 70234715: 70234715
12 SMN1 NM_000344.3(SMN1): c.131A> T (p.Asp44Val) single nucleotide variant Pathogenic rs104893931 GRCh38 Chromosome 5, 70938888: 70938888
13 SMN1 NM_000344.3(SMN1): c.305G> A (p.Trp102Ter) single nucleotide variant Pathogenic rs77804083 GRCh37 Chromosome 5, 70238216: 70238216
14 SMN1 NM_000344.3(SMN1): c.305G> A (p.Trp102Ter) single nucleotide variant Pathogenic rs77804083 GRCh38 Chromosome 5, 70942389: 70942389
15 SMN1 SMN1, 4-BP DEL, 399AGAG deletion Pathogenic
16 SMN1 NM_000344.3(SMN1): c.283G> C (p.Gly95Arg) single nucleotide variant Pathogenic rs104893927 GRCh37 Chromosome 5, 70238194: 70238194
17 SMN1 NM_000344.3(SMN1): c.283G> C (p.Gly95Arg) single nucleotide variant Pathogenic rs104893927 GRCh38 Chromosome 5, 70942367: 70942367
18 SMN1 NM_000344.3(SMN1): c.784A> G (p.Ser262Gly) single nucleotide variant Pathogenic rs104893932 GRCh37 Chromosome 5, 70241953: 70241953
19 SMN1 NM_000344.3(SMN1): c.784A> G (p.Ser262Gly) single nucleotide variant Pathogenic rs104893932 GRCh38 Chromosome 5, 70946126: 70946126
20 SMN1 NM_000344.3(SMN1): c.389A> G (p.Tyr130Cys) single nucleotide variant Pathogenic rs397514517 GRCh37 Chromosome 5, 70238300: 70238300
21 SMN1 NM_000344.3(SMN1): c.389A> G (p.Tyr130Cys) single nucleotide variant Pathogenic rs397514517 GRCh38 Chromosome 5, 70942473: 70942473
22 SMN1 NM_000344.3(SMN1): c.388T> C (p.Tyr130His) single nucleotide variant Pathogenic rs397514518 GRCh37 Chromosome 5, 70238299: 70238299
23 SMN1 NM_000344.3(SMN1): c.388T> C (p.Tyr130His) single nucleotide variant Pathogenic rs397514518 GRCh38 Chromosome 5, 70942472: 70942472
24 SMN1 SMN1, DEL deletion Pathogenic
25 SMN1 NC_000005.10: g.70946066_70946176del111 deletion Pathogenic rs1554082110 GRCh37 Chromosome 5, 70241893: 70242003
26 SMN1 NC_000005.10: g.70946066_70946176del111 deletion Pathogenic rs1554082110 GRCh38 Chromosome 5, 70946066: 70946176

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
1 10.84 SMN1 SMN2

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 Z disc GO:0030018 9.4 SMN1 SMN2
2 perikaryon GO:0043204 9.37 SMN1 SMN2
3 Cajal body GO:0015030 9.32 SMN1 SMN2
4 cytoplasmic ribonucleoprotein granule GO:0036464 9.26 SMN1 SMN2
5 SMN-Sm protein complex GO:0034719 9.16 SMN1 SMN2
6 Gemini of coiled bodies GO:0097504 8.96 SMN1 SMN2
7 SMN complex GO:0032797 8.62 SMN1 SMN2

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

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.5 NAIP SMN1 SMN2
2 RNA splicing GO:0008380 9.37 SMN1 SMN2
3 spliceosomal snRNP assembly GO:0000387 9.26 SMN1 SMN2
4 spliceosomal complex assembly GO:0000245 9.16 SMN1 SMN2
5 import into nucleus GO:0051170 8.96 SMN1 SMN2
6 DNA-templated transcription, termination GO:0006353 8.62 SMN1 SMN2

Sources for Spinal Muscular Atrophy, Type Iii

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