ALS2
MCID: AMY058
MIFTS: 40

Amyotrophic Lateral Sclerosis 2, Juvenile (ALS2)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 2, Juvenile

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 2, Juvenile:

Name: Amyotrophic Lateral Sclerosis 2, Juvenile 58 12 13 74
Amyotrophic Lateral Sclerosis Type 2 12 54 30 6 15
Als2 58 12 54 76
Amyotrophic Lateral Sclerosis 2 12 76
Als, Juvenile 58 56
Alsj 58 76
Sclerosis, Lateral, Amyotrophic, Type Type 2 41
Amyotrophic Lateral Sclerosis Juvenile 2 76
Amyotrophic Lateral Sclerosis Juvenile 76
Als, Juvenile; Alsj 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
age at onset 3 to 23 years
allelic disorder to juvenile primary lateral sclerosis (plsj, )
allelic disorder to infantile-onset ascending spastic paralysis (iahsp, )


HPO:

33
amyotrophic lateral sclerosis 2, juvenile:
Onset and clinical course slow progression progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Amyotrophic Lateral Sclerosis 2, Juvenile

UniProtKB/Swiss-Prot : 76 Amyotrophic lateral sclerosis 2: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

MalaCards based summary : Amyotrophic Lateral Sclerosis 2, Juvenile, also known as amyotrophic lateral sclerosis type 2, is related to lateral sclerosis and primary lateral sclerosis, adult, 1, and has symptoms including upper motor neuron signs An important gene associated with Amyotrophic Lateral Sclerosis 2, Juvenile is ALS2 (Alsin Rho Guanine Nucleotide Exchange Factor ALS2), and among its related pathways/superpathways is Amyotrophic lateral sclerosis (ALS). Affiliated tissues include brain, spinal cord and tongue, and related phenotypes are dystonia and hyperreflexia

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the alsin gene on chromosome 2.

Description from OMIM: 205100

Related Diseases for Amyotrophic Lateral Sclerosis 2, Juvenile

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 12 Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic Lateral Sclerosis 17 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 14
Amyotrophic Lateral Sclerosis Type 15 Amyotrophic Lateral Sclerosis Type 22
Tardbp-Related Amyotrophic Lateral Sclerosis

Diseases related to Amyotrophic Lateral Sclerosis 2, Juvenile via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 lateral sclerosis 33.2 ALS2 SOD1
2 primary lateral sclerosis, adult, 1 32.8 ALS2 SOD1
3 juvenile amyotrophic lateral sclerosis 32.7 ALS2 TRAK2
4 motor neuron disease 32.0 ALS2 SOD1
5 amyotrophic lateral sclerosis, juvenile, with dementia 12.6
6 primary lateral sclerosis, juvenile 12.1
7 infantile-onset ascending hereditary spastic paralysis 12.0
8 amyotrophic lateral sclerosis 4, juvenile 11.7
9 hereditary spastic paraplegia 11.7
10 spastic paralysis, infantile-onset ascending 11.6
11 amyotrophic lateral sclerosis 1 11.6
12 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 11.4
13 aicardi-goutieres syndrome 1 11.1
14 amyotrophic lateral sclerosis 3 11.1
15 amyotrophic lateral sclerosis 7 11.1
16 amyotrophic lateral sclerosis 9 11.1
17 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 11.1
18 amyotrophic lateral sclerosis 11 11.1
19 spastic paraplegia 57, autosomal recessive 11.1
20 amyotrophic lateral sclerosis type 5 11.1
21 amyotrophic lateral sclerosis type 6 11.1
22 postpoliomyelitis syndrome 11.1
23 als2-related disorders 11.1
24 paraplegia 10.3
25 intermittent claudication 10.2
26 spinal muscular atrophy, type i 10.0
27 dystonia 12 10.0
28 dystonia 10.0
29 lymphopenia 10.0
30 amyotrophic lateral sclerosis 16, juvenile 10.0 ALS2 SOD1
31 brown-vialetto-van laere syndrome 9.9 ALS2 SOD1
32 childhood type dermatomyositis 9.8
33 hemochromatosis, type 1 9.7
34 hemochromatosis, type 2a 9.7
35 hemochromatosis type 2 9.7
36 dermatomyositis 9.7
37 juvenile hereditary hemochromatosis 9.7
38 psoriatic juvenile idiopathic arthritis 9.7

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 2, Juvenile:



Diseases related to Amyotrophic Lateral Sclerosis 2, Juvenile

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 2, Juvenile

Human phenotypes related to Amyotrophic Lateral Sclerosis 2, Juvenile:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 dystonia 33 occasional (7.5%) HP:0001332
2 hyperreflexia 33 HP:0001347
3 dysphagia 33 HP:0002015
4 babinski sign 33 HP:0003487
5 hand muscle atrophy 33 HP:0009130
6 amyotrophic lateral sclerosis 33 HP:0007354
7 lower limb spasticity 33 HP:0002061
8 spastic gait 33 HP:0002064
9 spastic tetraparesis 33 HP:0001285
10 drooling 33 HP:0002307
11 anarthria 33 HP:0002425
12 distal amyotrophy 33 HP:0003693
13 spastic dysarthria 33 HP:0002464
14 difficulty in tongue movements 33 HP:0000183
15 abnormal upper motor neuron morphology 33 HP:0002127
16 pseudobulbar behavioral symptoms 33 HP:0002193
17 abnormal lower motor neuron morphology 33 HP:0002366
18 emg: chronic denervation signs 33 HP:0003444
19 upper limb spasticity 33 HP:0006986
20 spasticity of pharyngeal muscles 33 HP:0002501
21 spasticity of facial muscles 33 HP:0002491

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
hyperreflexia
spastic gait
spastic tetraparesis
anarthria
more
Head And Neck Mouth:
difficulty in tongue movements
sialorrhea

Muscle Soft Tissue:
amyotrophy of hand muscles
amyotrophy of distal limb muscles
muscle biopsy shows neurogenic atrophy

Abdomen Gastrointestinal:
dysphagia

Head And Neck Face:
spasticity of the facial muscles

Neurologic Peripheral Nervous System:
no sensory abnormalities

Clinical features from OMIM:

205100

UMLS symptoms related to Amyotrophic Lateral Sclerosis 2, Juvenile:


upper motor neuron signs

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 2, Juvenile

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 2, Juvenile

Genetic Tests for Amyotrophic Lateral Sclerosis 2, Juvenile

Genetic tests related to Amyotrophic Lateral Sclerosis 2, Juvenile:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 2 30 ALS2

Anatomical Context for Amyotrophic Lateral Sclerosis 2, Juvenile

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 2, Juvenile:

42
Brain, Spinal Cord, Tongue

Publications for Amyotrophic Lateral Sclerosis 2, Juvenile

Articles related to Amyotrophic Lateral Sclerosis 2, Juvenile:

# Title Authors Year
1
ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. ( 24562058 )
2014
2
Alfa-class prefoldin protein UXT is a novel interacting partner of Amyotrophic Lateral Sclerosis 2 (Als2) protein. ( 21907703 )
2011
3
Regulation of endosomal motility and degradation by amyotrophic lateral sclerosis 2/alsin. ( 19630956 )
2009
4
Amyotrophic lateral sclerosis 2-deficiency leads to neuronal degeneration in amyotrophic lateral sclerosis through altered AMPA receptor trafficking. ( 17093100 )
2006
5
Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis. ( 16240357 )
2005
6
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. ( 11586297 )
2001
7
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. ( 11586298 )
2001
8
Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. ( 7920663 )
1994
9
Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy. ( 2328408 )
1990

Variations for Amyotrophic Lateral Sclerosis 2, Juvenile

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 2, Juvenile:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALS2 NM_020919.3(ALS2): c.138delA (p.Ala47Profs) deletion Pathogenic rs386134173 GRCh37 Chromosome 2, 202631989: 202631989
2 ALS2 NM_020919.3(ALS2): c.138delA (p.Ala47Profs) deletion Pathogenic rs386134173 GRCh38 Chromosome 2, 201767266: 201767266
3 ALS2 NM_020919.3(ALS2): c.553delA (p.Thr185Leufs) deletion Pathogenic rs386134174 GRCh37 Chromosome 2, 202626164: 202626164
4 ALS2 NM_020919.3(ALS2): c.553delA (p.Thr185Leufs) deletion Pathogenic rs386134174 GRCh38 Chromosome 2, 201761441: 201761441
5 ALS2 NM_020919.3(ALS2): c.2002G> T (p.Gly668Ter) single nucleotide variant Pathogenic rs730882255 GRCh37 Chromosome 2, 202609149: 202609149
6 ALS2 NM_020919.3(ALS2): c.2002G> T (p.Gly668Ter) single nucleotide variant Pathogenic rs730882255 GRCh38 Chromosome 2, 201744426: 201744426
7 ALS2 NM_020919.3(ALS2): c.4573dupG (p.Val1525Glyfs) duplication Pathogenic rs730882256 GRCh37 Chromosome 2, 202571576: 202571576
8 ALS2 NM_020919.3(ALS2): c.4573dupG (p.Val1525Glyfs) duplication Pathogenic rs730882256 GRCh38 Chromosome 2, 201706853: 201706853
9 ALS2 NM_020919.3(ALS2): c.1304A> T (p.Gln435Leu) single nucleotide variant Uncertain significance rs1085307055 GRCh37 Chromosome 2, 202622292: 202622292
10 ALS2 NM_020919.3(ALS2): c.1304A> T (p.Gln435Leu) single nucleotide variant Uncertain significance rs1085307055 GRCh38 Chromosome 2, 201757569: 201757569
11 ALS2 NM_020919.3(ALS2): c.1115C> G (p.Pro372Arg) single nucleotide variant Uncertain significance rs190369242 GRCh37 Chromosome 2, 202622481: 202622481
12 ALS2 NM_020919.3(ALS2): c.1115C> G (p.Pro372Arg) single nucleotide variant Uncertain significance rs190369242 GRCh38 Chromosome 2, 201757758: 201757758
13 ALS2 NM_020919.3(ALS2): c.3415C> T (p.Arg1139Ter) single nucleotide variant Pathogenic/Likely pathogenic rs767350733 GRCh37 Chromosome 2, 202589115: 202589115
14 ALS2 NM_020919.3(ALS2): c.3415C> T (p.Arg1139Ter) single nucleotide variant Pathogenic/Likely pathogenic rs767350733 GRCh38 Chromosome 2, 201724392: 201724392
15 ALS2 NM_020919.3(ALS2): c.1233T> G (p.Tyr411Ter) single nucleotide variant Pathogenic rs369577952 GRCh37 Chromosome 2, 202622363: 202622363
16 ALS2 NM_020919.3(ALS2): c.1233T> G (p.Tyr411Ter) single nucleotide variant Pathogenic rs369577952 GRCh38 Chromosome 2, 201757640: 201757640
17 ALS2 NM_020919.3(ALS2): c.3134A> T (p.Lys1045Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 201726712: 201726712
18 ALS2 NM_020919.3(ALS2): c.3134A> T (p.Lys1045Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 202591435: 202591435

Expression for Amyotrophic Lateral Sclerosis 2, Juvenile

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 2, Juvenile.

Pathways for Amyotrophic Lateral Sclerosis 2, Juvenile

Pathways related to Amyotrophic Lateral Sclerosis 2, Juvenile according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.68 ALS2 SOD1

GO Terms for Amyotrophic Lateral Sclerosis 2, Juvenile

Cellular components related to Amyotrophic Lateral Sclerosis 2, Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.5 ALS2 PARD3B SOD1
2 neuron projection GO:0043005 9.43 ALS2 SOD1 TRAK2
3 neuronal cell body GO:0043025 9.33 ALS2 SOD1 TRAK2
4 axon cytoplasm GO:1904115 8.96 SOD1 TRAK2
5 dendrite cytoplasm GO:0032839 8.62 SOD1 TRAK2

Biological processes related to Amyotrophic Lateral Sclerosis 2, Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.32 ALS2 SOD1
2 locomotory behavior GO:0007626 9.26 ALS2 SOD1
3 regulation of GTPase activity GO:0043087 9.16 ALS2 SOD1
4 anterograde axonal transport GO:0008089 8.96 SOD1 TRAK2
5 protein localization GO:0008104 8.8 ALS2 PARD3B TRAK2

Sources for Amyotrophic Lateral Sclerosis 2, Juvenile

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
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