MCID: AMY058
MIFTS: 38

Amyotrophic Lateral Sclerosis 2, Juvenile

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 2, Juvenile

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 2, Juvenile:

Name: Amyotrophic Lateral Sclerosis 2, Juvenile 57 12 13 73
Amyotrophic Lateral Sclerosis Type 2 12 53 29 6 15
Als2 57 12 53 75
Amyotrophic Lateral Sclerosis 2 12 75
Als, Juvenile 57 55
Alsj 57 75
Sclerosis, Lateral, Amyotrophic, Type Type 2 40
Amyotrophic Lateral Sclerosis Juvenile 2 75
Amyotrophic Lateral Sclerosis Juvenile 75
Als, Juvenile; Alsj 57

Characteristics:

OMIM:

57
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:

32
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 : 75 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 juvenile amyotrophic lateral sclerosis and lateral sclerosis, and has symptoms including upper motor neuron signs An important gene associated with Amyotrophic Lateral Sclerosis 2, Juvenile is ALS2 (ALS2, Alsin Rho Guanine Nucleotide Exchange Factor), and among its related pathways/superpathways is Amyotrophic lateral sclerosis (ALS). Affiliated tissues include brain, spinal cord and tongue, and related phenotypes are hyperreflexia and dysphagia

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 31)
# Related Disease Score Top Affiliating Genes
1 juvenile amyotrophic lateral sclerosis 32.1 ALS2 TRAK2
2 lateral sclerosis 31.9 ALS2 ALS2CR12 SOD1
3 amyotrophic lateral sclerosis 16, juvenile 31.3 ALS2 SOD1
4 motor neuron disease 31.3 ALS2 SOD1
5 brown-vialetto-van laere syndrome 31.1 ALS2 SOD1
6 amyotrophic lateral sclerosis, juvenile, with dementia 12.4
7 infantile-onset ascending hereditary spastic paralysis 11.8
8 primary lateral sclerosis, juvenile 11.6
9 amyotrophic lateral sclerosis 4, juvenile 11.5
10 spastic paralysis, infantile-onset ascending 11.5
11 hereditary spastic paraplegia 11.4
12 amyotrophic lateral sclerosis 1 11.4
13 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 11.2
14 primary lateral sclerosis, adult, 1 11.2
15 aicardi-goutieres syndrome 1 10.9
16 spinocerebellar ataxia, autosomal recessive 1 10.9
17 amyotrophic lateral sclerosis 3 10.9
18 amyotrophic lateral sclerosis 7 10.9
19 amyotrophic lateral sclerosis 9 10.9
20 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 10.9
21 trehalase deficiency 10.9
22 amyotrophic lateral sclerosis 11 10.9
23 amyotrophic lateral sclerosis 19 10.9
24 spastic paraplegia 57, autosomal recessive 10.9
25 amyotrophic lateral sclerosis type 5 10.9
26 amyotrophic lateral sclerosis type 6 10.9
27 spasticity 10.3
28 paraplegia 10.1
29 neuronitis 10.1
30 dystonia 10.0
31 lymphopenia 9.8

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Amyotrophic Lateral Sclerosis 2, Juvenile:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 32 HP:0001347
2 dysphagia 32 HP:0002015
3 babinski sign 32 HP:0003487
4 hand muscle atrophy 32 HP:0009130
5 dystonia 32 occasional (7.5%) HP:0001332
6 amyotrophic lateral sclerosis 32 HP:0007354
7 lower limb spasticity 32 HP:0002061
8 spastic gait 32 HP:0002064
9 spastic tetraparesis 32 HP:0001285
10 drooling 32 HP:0002307
11 anarthria 32 HP:0002425
12 distal amyotrophy 32 HP:0003693
13 spastic dysarthria 32 HP:0002464
14 abnormal upper motor neuron morphology 32 HP:0002127
15 pseudobulbar behavioral symptoms 32 HP:0002193
16 difficulty in tongue movements 32 HP:0000183
17 upper limb spasticity 32 HP:0006986
18 abnormal lower motor neuron morphology 32 HP:0002366
19 spasticity of pharyngeal muscles 32 HP:0002501
20 spasticity of facial muscles 32 HP:0002491
21 emg 32 HP:0003444

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 29 ALS2

Anatomical Context for Amyotrophic Lateral Sclerosis 2, Juvenile

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

41
Brain, Spinal Cord, Tongue

Publications for Amyotrophic Lateral Sclerosis 2, Juvenile

Articles related to Amyotrophic Lateral Sclerosis 2, Juvenile:

# Title Authors Year
1
Alfa-class prefoldin protein UXT is a novel interacting partner of Amyotrophic Lateral Sclerosis 2 (Als2) protein. ( 21907703 )
2011
2
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. ( 11586298 )
2001

Variations for Amyotrophic Lateral Sclerosis 2, Juvenile

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

6
(show all 14)
# 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.3529G> T (p.Gly1177Ter) single nucleotide variant no interpretation for the single variant rs386134180 GRCh37 Chromosome 2, 202588148: 202588148
10 ALS2 NM_020919.3(ALS2): c.3529G> T (p.Gly1177Ter) single nucleotide variant no interpretation for the single variant rs386134180 GRCh38 Chromosome 2, 201723425: 201723425
11 ALS2 NM_020919.3(ALS2): c.3624+5G> C single nucleotide variant no interpretation for the single variant rs386134186 GRCh38 Chromosome 2, 201723325: 201723325
12 ALS2 NM_020919.3(ALS2): c.3624+5G> C single nucleotide variant no interpretation for the single variant rs386134186 GRCh37 Chromosome 2, 202588048: 202588048
13 ALS2 NM_020919.3(ALS2): c.1304A> T (p.Gln435Leu) single nucleotide variant Uncertain significance rs1085307055 GRCh37 Chromosome 2, 202622292: 202622292
14 ALS2 NM_020919.3(ALS2): c.1304A> T (p.Gln435Leu) single nucleotide variant Uncertain significance rs1085307055 GRCh38 Chromosome 2, 201757569: 201757569

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 9.43 ALS2 PARD3B SOD1
2 neuron projection GO:0043005 9.33 ALS2 SOD1 TRAK2
3 neuronal cell body GO:0043025 9.13 ALS2 SOD1 TRAK2
4 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 protein localization GO:0008104 8.96 ALS2 TRAK2
5 anterograde axonal transport GO:0008089 8.62 SOD1 TRAK2

Sources for Amyotrophic Lateral Sclerosis 2, Juvenile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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