JALS
MCID: JVN050
MIFTS: 42

Juvenile Amyotrophic Lateral Sclerosis (JALS)

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

Aliases & Classifications for Juvenile Amyotrophic Lateral Sclerosis

MalaCards integrated aliases for Juvenile Amyotrophic Lateral Sclerosis:

Name: Juvenile Amyotrophic Lateral Sclerosis 20 58 29 6
Juvenile Lou Gehrig Disease 20 58
Juvenile Charcot Disease 20 58
Jals 20 58
Amyotrophic Lateral Sclerosis, Juvenile 20

Characteristics:

Orphanet epidemiological data:

58
juvenile amyotrophic lateral sclerosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Childhood; Age of death: adult;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Juvenile Amyotrophic Lateral Sclerosis

GARD : 20 Juvenile amyotrophic lateral sclerosis (JALS) is a rare motor neuron disease characterized by progressive degeneration of upper and lower motor neurons. Motor neurons are nerve cells that control voluntary muscle activity. Symptoms of JALS typically begin before age 25, but often in early childhood. Symptoms include facial spasticity, dysarthria, and a spastic gait (manner of walking). Some people have uncontrolled laughter and weeping, mild wasting of the legs and hands, bladder dysfunction, and/or sensory disturbances. The disease is usually slowly progressive but rate of progression varies. People with JALS may become unable to move by age 12 to age 50. JALS includes several subtypes, distinguished by the specific variations ( mutations ) in any of several genes, including: ALS2 caused by mutations in the ALS2 gene ALS16 caused by mutations in the SIGMAR1 gene ALS5 caused by mutations in the SPG11 gene ALS4 caused by mutation in the SETX gene There are some reports of JALS caused by mutations in the UBQLN2 (related to ALS15), FUS (related to ALS6) and TARDBP (related to ALS10) genes. Mutations may be inherited from a parent or may occur for the first time in a person with the disease. Inheritance may be autosomal recessive or autosomal dominant depending on the gene involved. There is no specific treatment for JALS. Management generally involves physical and occupational therapy to promote mobility and independence.

MalaCards based summary : Juvenile Amyotrophic Lateral Sclerosis, also known as juvenile lou gehrig disease, is related to amyotrophic lateral sclerosis 4, juvenile and amyotrophic lateral sclerosis 1. An important gene associated with Juvenile Amyotrophic Lateral Sclerosis is SIGMAR1 (Sigma Non-Opioid Intracellular Receptor 1). Affiliated tissues include cerebellum and skeletal muscle, and related phenotypes are lower limb spasticity and distal amyotrophy

Related Diseases for Juvenile Amyotrophic Lateral Sclerosis

Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Amyotrophic Lateral Sclerosis 1 Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic Lateral Sclerosis 5, Juvenile Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 21 Amyotrophic Lateral Sclerosis 3
Amyotrophic Lateral Sclerosis 7 Amyotrophic Lateral Sclerosis 8
Amyotrophic Lateral Sclerosis 9 Amyotrophic Lateral Sclerosis 11
Amyotrophic Lateral Sclerosis 16, Juvenile Amyotrophic Lateral Sclerosis 18
Amyotrophic Lateral Sclerosis 20 Amyotrophic Lateral Sclerosis 19
Amyotrophic Lateral Sclerosis 23 Amyotrophic Lateral Sclerosis 24
Amyotrophic Lateral Sclerosis 25 Amyotrophic Lateral Sclerosis Type 5
Amyotrophic Lateral Sclerosis Type 6 Amyotrophic Lateral Sclerosis Type 12
Amyotrophic Lateral Sclerosis Type 14 Amyotrophic Lateral Sclerosis Type 15
Amyotrophic Lateral Sclerosis Type 22 Tardbp-Related Amyotrophic Lateral Sclerosis

Diseases related to Juvenile Amyotrophic Lateral Sclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 4, juvenile 31.8 SPG11 SETX FUS ALS2
2 amyotrophic lateral sclerosis 1 31.0 SPG11 SIGMAR1 SETX FUS ALS2
3 lateral sclerosis 30.8 SPG11 SIGMAR1 SETX FUS C2CD6 ALS2
4 spinocerebellar ataxia, autosomal recessive 8 30.2 SYNE1 SETX
5 muscular atrophy 30.2 VRK1 SIGMAR1 SETX PLEKHG5 FUS
6 amyotrophic lateral sclerosis type 5 30.1 SPG11 SETX ALS2
7 amyotrophic lateral sclerosis type 6 30.1 SPG11 SIGMAR1 SETX FUS ALS2
8 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 30.1 SPG11 SIGMAR1 SETX FUS ALS2
9 spinal muscular atrophy 29.9 VRK1 SIGMAR1 SETX PLEKHG5 FUS
10 amyotrophic lateral sclerosis 2, juvenile 29.8 TRAK2 STRADB NIF3L1 C2CD6 ALS2
11 amyotrophic lateral sclerosis 16, juvenile 29.7 SPG11 SIGMAR1 SETX FUS ALS2
12 motor neuron disease 29.5 SYNE1 SIGMAR1 SETX PLEKHG5 FUS ERLIN1
13 charcot-marie-tooth disease 29.5 SPG11 SETX PLEKHG5 ALS2
14 hereditary spastic paraplegia 29.4 SPG11 SETX PLEKHG5 ERLIN1 ALS2
15 amyotrophic lateral sclerosis, juvenile, with dementia 11.7
16 amyotrophic lateral sclerosis 5, juvenile 11.3
17 als2-related disorders 10.5
18 paraplegia 10.4
19 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 10.3
20 tremor, hereditary essential, 4 10.3
21 neuronopathy, distal hereditary motor, type i 10.2
22 neurodegeneration with brain iron accumulation 10.2
23 respiratory failure 10.2
24 liposarcoma 10.2
25 mitochondrial membrane protein-associated neurodegeneration 10.2
26 alzheimer disease 7 10.2 SIGMAR1 FUS
27 autosomal recessive distal hereditary motor neuronopathy 10.2 SETX PLEKHG5
28 distal hereditary motor neuronopathy type 7 10.1 PLEKHG5 ALS2
29 arteriosclerosis 10.1
30 spastic paraplegia 57, autosomal recessive 10.1 SPG11 ALS2
31 spastic paraplegia 7, autosomal recessive 10.1 SPG11 SETX
32 epithelial recurrent erosion dystrophy 10.1
33 spinal muscular atrophy, type i 10.1
34 3-methylglutaconic aciduria, type iii 10.1
35 ataxia and polyneuropathy, adult-onset 10.1
36 hereditary motor and sensory neuropathy v 10.1
37 autoimmune lymphoproliferative syndrome 10.1
38 branchiootic syndrome 1 10.1
39 spastic paraplegia 11, autosomal recessive 10.1
40 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 10.1
41 primary lateral sclerosis, juvenile 10.1
42 spastic paraplegia 28, autosomal recessive 10.1
43 neurodegeneration with brain iron accumulation 4 10.1
44 charcot-marie-tooth disease, axonal, type 2x 10.1
45 scoliosis 10.1
46 tooth disease 10.1
47 sarcoma 10.1
48 autosomal dominant cerebellar ataxia 10.1
49 optic nerve disease 10.1
50 progressive muscular atrophy 10.1

Graphical network of the top 20 diseases related to Juvenile Amyotrophic Lateral Sclerosis:



Diseases related to Juvenile Amyotrophic Lateral Sclerosis

Symptoms & Phenotypes for Juvenile Amyotrophic Lateral Sclerosis

Human phenotypes related to Juvenile Amyotrophic Lateral Sclerosis:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lower limb spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002061
2 distal amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003693
3 amyotrophic lateral sclerosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007354
4 upper limb spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0006986
5 bulbar signs 58 31 frequent (33%) Frequent (79-30%) HP:0002483
6 spastic diplegia 58 31 frequent (33%) Frequent (79-30%) HP:0001264
7 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
8 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
9 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
10 brisk reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001348
11 muscle fiber atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0100295
12 cns hypomyelination 58 31 frequent (33%) Frequent (79-30%) HP:0003429
13 contractures of the joints of the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0005750
14 delayed ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0031936
15 arm dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0031960
16 contractures of the joints of the upper limbs 58 31 frequent (33%) Frequent (79-30%) HP:0100360
17 clonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002169
18 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
19 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
20 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
21 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
22 chorea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002072
23 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
24 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
25 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
26 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
27 toe walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0040083
28 cachexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004326
29 abnormal cerebellum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001317
30 gastrostomy tube feeding in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011471
31 anarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002425
32 proximal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003701
33 axial dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002530
34 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
35 parkinsonism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001300
36 head titubation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002599
37 opisthotonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002179
38 supranuclear gaze palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000605
39 neck flexor weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003722
40 oromandibular dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012048
41 retrocollis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002544
42 neurological speech impairment 58 Frequent (79-30%)
43 muscle weakness 58 Very frequent (99-80%)
44 hypertonia 58 Frequent (79-30%)
45 skeletal muscle atrophy 58 Very frequent (99-80%)
46 dystonia 58 Frequent (79-30%)

Drugs & Therapeutics for Juvenile Amyotrophic Lateral Sclerosis

Search Clinical Trials , NIH Clinical Center for Juvenile Amyotrophic Lateral Sclerosis

Genetic Tests for Juvenile Amyotrophic Lateral Sclerosis

Genetic tests related to Juvenile Amyotrophic Lateral Sclerosis:

# Genetic test Affiliating Genes
1 Juvenile Amyotrophic Lateral Sclerosis 29

Anatomical Context for Juvenile Amyotrophic Lateral Sclerosis

MalaCards organs/tissues related to Juvenile Amyotrophic Lateral Sclerosis:

40
Cerebellum, Skeletal Muscle

Publications for Juvenile Amyotrophic Lateral Sclerosis

Articles related to Juvenile Amyotrophic Lateral Sclerosis:

(show top 50) (show all 109)
# Title Authors PMID Year
1
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 6 61
26556829 2016
2
ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. 6 61
24562058 2014
3
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. 61 6
21842496 2011
4
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. 6 61
20110243 2010
5
Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis. 61 6
16240357 2005
6
Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy. 61 6
2328408 1990
7
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 6
32214227 2020
8
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes. 6
29691679 2018
9
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families. 6
28708278 2018
10
The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis. 20 61
28429524 2017
11
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome. 6
27629094 2016
12
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
13
The role of SIGMAR1 gene mutation and mitochondrial dysfunction in amyotrophic lateral sclerosis. 6
25704016 2015
14
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
15
De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China. 61 20
23046859 2013
16
Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum. 6
18408091 2008
17
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. 6
18332254 2008
18
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. 6
18067136 2007
19
SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation. 6
17717710 2007
20
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. 6
17322883 2007
21
Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking. 6
16321985 2006
22
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. 6
11586297 2001
23
Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. 6
7920663 1994
24
Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis. 20
28716533 2017
25
Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations. 61
33155358 2021
26
A de novo c.1509dupA:p.R503fs mutation of FUS: report of a girl with sporadic juvenile amyotrophic lateral sclerosis. 61
32501131 2020
27
The ALS-related σ1R E102Q Mutant Eludes Ligand Control and Exhibits Anomalous Response to Calcium. 61
33020464 2020
28
FUS mutation is probably the most common pathogenic gene for JALS, especially sporadic JALS. 61
33036763 2020
29
Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel SYNE1 mutations. 61
32870032 2020
30
Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations. 61
32383541 2020
31
Distinct Regulation of σ1 Receptor Multimerization by Its Agonists and Antagonists in Transfected Cells and Rat Liver Membranes. 61
32060048 2020
32
A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment. 61
32022482 2020
33
A Human iPSC Line Carrying a de novo Pathogenic FUS Mutation Identified in a Patient With Juvenile ALS Differentiated Into Motor Neurons With Pathological Characteristics. 61
33093822 2020
34
Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11. 61
31900114 2020
35
Clinical and Genetic Features of Patients with Juvenile Amyotrophic Lateral Sclerosis with Fused in Sarcoma (FUS) Mutation. 61
30507891 2018
36
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant. 61
30128655 2018
37
A novel SETX gene mutation associated with Juvenile amyotrophic lateral sclerosis. 61
30052327 2018
38
SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family. 61
30079398 2018
39
A novel mutation of BICD2 gene associated with juvenile amyotrophic lateral sclerosis. 61
28335620 2017
40
Mitochondria-associated membrane collapse is a common pathomechanism in SIGMAR1- and SOD1-linked ALS. 61
27821430 2016
41
Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis. 61
27671242 2016
42
CLEC4C p.K210del variant causes impaired cell surface transport in plasmacytoid dendritic cells of amyotrophic lateral sclerosis. 61
26943047 2016
43
De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia. 61
27123482 2016
44
A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis. 61
27999540 2016
45
Juvenile amyotrophic lateral sclerosis: Classical wine glass sign on magnetic resonance imaging. 61
27195035 2016
46
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia. 61
26751646 2016
47
Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11. 61
27066562 2015
48
Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. 61
25192599 2015
49
Association of genetic variants in senataxin and Alzheimer's disease in a Chinese Han population in Taiwan. 61
24694197 2014
50
Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T. 61
24315819 2014

Variations for Juvenile Amyotrophic Lateral Sclerosis

ClinVar genetic disease variations for Juvenile Amyotrophic Lateral Sclerosis:

6 (show top 50) (show all 226)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SIGMAR1 NM_005866.4(SIGMAR1):c.283dup (p.Leu95fs) Duplication Pathogenic 209190 rs780136067 GRCh37: 9:34637285-34637286
GRCh38: 9:34637288-34637289
2 SIGMAR1 NM_005866.4(SIGMAR1):c.13del (p.Val5fs) Deletion Pathogenic 569448 rs1564096761 GRCh37: 9:34637682-34637682
GRCh38: 9:34637685-34637685
3 SIGMAR1 NM_005866.4(SIGMAR1):c.283dup (p.Leu95fs) Duplication Pathogenic 209190 rs780136067 GRCh37: 9:34637285-34637286
GRCh38: 9:34637288-34637289
4 ALS2 NM_020919.4(ALS2):c.138del (p.Ala47fs) Deletion Pathogenic 4405 rs386134173 GRCh37: 2:202631989-202631989
GRCh38: 2:201767266-201767266
5 ALS2 NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter) SNV Pathogenic 183239 rs730882255 GRCh37: 2:202609149-202609149
GRCh38: 2:201744426-201744426
6 ALS2 NM_020919.4(ALS2):c.4573dup (p.Val1525fs) Duplication Pathogenic 183240 rs730882256 GRCh37: 2:202571575-202571576
GRCh38: 2:201706852-201706853
7 SPG11 NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter) SNV Pathogenic 41287 rs312262739 GRCh37: 15:44918575-44918575
GRCh38: 15:44626377-44626377
8 SPG11 NM_025137.4(SPG11):c.118C>T (p.Gln40Ter) SNV Pathogenic 1111 rs267607084 GRCh37: 15:44955728-44955728
GRCh38: 15:44663530-44663530
9 SPG11 NM_025137.4(SPG11):c.267G>A (p.Trp89Ter) SNV Pathogenic 41294 rs312262709 GRCh37: 15:44952805-44952805
GRCh38: 15:44660607-44660607
10 SPG11 NM_025137.4(SPG11):c.7029dup (p.Val2344fs) Duplication Pathogenic 41358 rs312262788 GRCh37: 15:44856866-44856867
GRCh38: 15:44564668-44564669
11 ERLIN1 NM_006459.4(ERLIN1):c.281T>C (p.Val94Ala) SNV Pathogenic 873226 GRCh37: 10:101937913-101937913
GRCh38: 10:100178156-100178156
12 FUS NM_004960.4(FUS):c.1577A>G (p.Tyr526Cys) SNV Pathogenic 873234 GRCh37: 16:31202755-31202755
GRCh38: 16:31191434-31191434
13 PLEKHG5 NM_020631.6(PLEKHG5):c.1417C>T (p.Gln473Ter) SNV Pathogenic 873314 GRCh37: 1:6530920-6530920
GRCh38: 1:6470860-6470860
14 SIGMAR1 NM_005866.4(SIGMAR1):c.19del (p.Arg7fs) Deletion Pathogenic 650504 rs747285235 GRCh37: 9:34637676-34637676
GRCh38: 9:34637679-34637679
15 SIGMAR1 NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln) SNV Pathogenic 30238 rs387906829 GRCh37: 9:34637265-34637265
GRCh38: 9:34637268-34637268
16 ALS2 NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter) SNV Pathogenic 100653 rs587777132 GRCh37: 2:202593315-202593315
GRCh38: 2:201728592-201728592
17 ALS2 NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter) SNV Pathogenic 873268 GRCh37: 2:202572614-202572614
GRCh38: 2:201707891-201707891
18 SPG11 NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter) SNV Pathogenic 561117 rs368276916 GRCh37: 15:44881468-44881468
GRCh38: 15:44589270-44589270
19 ALS2 NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter) SNV Pathogenic 533743 rs369577952 GRCh37: 2:202622363-202622363
GRCh38: 2:201757640-201757640
20 SPG11 NM_025137.4(SPG11):c.1432C>T (p.Gln478Ter) SNV Pathogenic 873227 GRCh37: 15:44943713-44943713
GRCh38: 15:44651515-44651515
21 SPG11 NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter) SNV Pathogenic 41333 rs200793464 GRCh37: 15:44867132-44867132
GRCh38: 15:44574934-44574934
22 ALS2 NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) SNV Pathogenic 393199 rs767350733 GRCh37: 2:202589115-202589115
GRCh38: 2:201724392-201724392
23 SPG11 NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) SNV Pathogenic 488833 rs140385286 GRCh37: 15:44944060-44944060
GRCh38: 15:44651862-44651862
24 SPG11 NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter) SNV Pathogenic 378638 rs778305085 GRCh37: 15:44855496-44855496
GRCh38: 15:44563298-44563298
25 SPG11 NM_025137.4(SPG11):c.2250del (p.Phe750fs) Deletion Pathogenic 873263 GRCh37: 15:44914992-44914992
GRCh38: 15:44622794-44622794
26 SPG11 NM_025137.4(SPG11):c.5626G>T (p.Glu1876Ter) SNV Pathogenic 997574 GRCh37: 15:44876252-44876252
GRCh38: 15:44584054-44584054
27 SPG11 NM_025137.4(SPG11):c.7255_7256dup (p.Phe2420fs) Duplication Pathogenic 546750 rs532737377 GRCh37: 15:44855394-44855395
GRCh38: 15:44563196-44563197
28 SPG11 NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter) SNV Pathogenic 41324 rs312262767 GRCh37: 15:44876408-44876408
GRCh38: 15:44584210-44584210
29 FUS NM_004960.3(FUS):c.1574C>T (p.Pro525Leu) SNV Pathogenic 280110 rs886041390 GRCh37: 16:31202752-31202752
GRCh38: 16:31191431-31191431
30 SYNE1 NM_182961.4(SYNE1):c.22930C>T (p.Gln7644Ter) SNV Pathogenic 873270 GRCh37: 6:152527392-152527392
GRCh38: 6:152206257-152206257
31 SYNE1 NM_182961.4(SYNE1):c.23524C>T (p.Arg7842Ter) SNV Pathogenic 873271 GRCh37: 6:152497632-152497632
GRCh38: 6:152176497-152176497
32 ALS2 NM_020919.4(ALS2):c.553del (p.Thr185fs) Deletion Pathogenic 4414 rs386134174 GRCh37: 2:202626164-202626164
GRCh38: 2:201761441-201761441
33 SPG11 NM_025137.4(SPG11):c.733_734del (p.Met245fs) Deletion Pathogenic 1112 rs312262720 GRCh37: 15:44949428-44949429
GRCh38: 15:44657230-44657231
34 SPG11 NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter) SNV Pathogenic 41340 rs147713329 GRCh37: 15:44865859-44865859
GRCh38: 15:44573661-44573661
35 ALS2 NM_020919.4(ALS2):c.3113dup (p.Tyr1039fs) Duplication Pathogenic 1033557 GRCh37: 2:202591455-202591456
GRCh38: 2:201726732-201726733
36 SPG11 NM_025137.4(SPG11):c.2316+1G>A SNV Pathogenic 41288 rs312262740 GRCh37: 15:44914925-44914925
GRCh38: 15:44622727-44622727
37 SPG11 NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) SNV Pathogenic 620391 rs769898852 GRCh37: 15:44862791-44862791
GRCh38: 15:44570593-44570593
38 ALS2 NM_020919.4(ALS2):c.4022G>A (p.Arg1341His) SNV Likely pathogenic 374111 rs761291489 GRCh37: 2:202575814-202575814
GRCh38: 2:201711091-201711091
39 ALS2 NM_020919.4(ALS2):c.1718C>A (p.Ala573Glu) SNV Likely pathogenic 694319 GRCh37: 2:202617888-202617888
GRCh38: 2:201753165-201753165
40 ALS2 NM_020919.4(ALS2):c.4753_4754dup (p.Ser1585fs) Microsatellite Likely pathogenic 973527 GRCh37: 2:202569260-202569261
GRCh38: 2:201704537-201704538
41 VRK1 NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) SNV Likely pathogenic 209205 rs772731615 GRCh37: 14:97326965-97326965
GRCh38: 14:96860628-96860628
42 ALS2 NM_020919.4(ALS2):c.601C>T (p.Arg201Ter) SNV Likely pathogenic 804392 rs1574787779 GRCh37: 2:202626116-202626116
GRCh38: 2:201761393-201761393
43 ALS2 NM_020919.4(ALS2):c.601C>T (p.Arg201Ter) SNV Likely pathogenic 804392 rs1574787779 GRCh37: 2:202626116-202626116
GRCh38: 2:201761393-201761393
44 SPG11 NM_025137.4(SPG11):c.1966_1967del (p.Lys656fs) Deletion Likely pathogenic 873262 GRCh37: 15:44920967-44920968
GRCh38: 15:44628769-44628770
45 ALS2 NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter) SNV Likely pathogenic 804391 rs1574748038 GRCh37: 2:202609047-202609047
GRCh38: 2:201744324-201744324
46 SPG11 NM_025137.4(SPG11):c.5199del (p.Lys1733fs) Deletion Likely pathogenic 804472 rs779268551 GRCh37: 15:44876679-44876679
GRCh38: 15:44584481-44584481
47 ALS2 NM_020919.4(ALS2):c.4808C>T (p.Pro1603Leu) SNV Likely pathogenic 873269 GRCh37: 2:202569207-202569207
GRCh38: 2:201704484-201704484
48 PLEKHG5 NM_020631.6(PLEKHG5):c.1889C>A (p.Pro630His) SNV Likely pathogenic 873315 GRCh37: 1:6529648-6529648
GRCh38: 1:6469588-6469588
49 SIGMAR1 NM_005866.4(SIGMAR1):c.448G>A (p.Glu150Lys) SNV Likely pathogenic 873316 GRCh37: 9:34635853-34635853
GRCh38: 9:34635856-34635856
50 SIGMAR1 NM_005866.4(SIGMAR1):c.451A>G (p.Thr151Ala) SNV Likely pathogenic 873317 GRCh37: 9:34635850-34635850
GRCh38: 9:34635853-34635853

Expression for Juvenile Amyotrophic Lateral Sclerosis

Search GEO for disease gene expression data for Juvenile Amyotrophic Lateral Sclerosis.

Pathways for Juvenile Amyotrophic Lateral Sclerosis

GO Terms for Juvenile Amyotrophic Lateral Sclerosis

Cellular components related to Juvenile Amyotrophic Lateral Sclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.07 VRK1 TRAK2 SYNE1 STRADB SPG11 SETX
2 nucleus GO:0005634 10.02 VRK1 TRAK2 SYNE1 STRADB SPG11 SIGMAR1
3 dendrite GO:0030425 9.46 TRAK2 SPG11 FUS ALS2
4 nuclear outer membrane GO:0005640 9.26 SYNE1 SIGMAR1
5 growth cone GO:0030426 9.13 SIGMAR1 SETX ALS2
6 axon GO:0030424 8.92 SPG11 SETX PLEKHG5 ALS2

Molecular functions related to Juvenile Amyotrophic Lateral Sclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.44 VRK1 TRAK2 SYNE1 STRADB SPG11 SIGMAR1

Sources for Juvenile Amyotrophic Lateral Sclerosis

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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