ALS2
MCID: AMY058
MIFTS: 38

Amyotrophic Lateral Sclerosis 2, Juvenile (ALS2)

Categories: Genetic diseases, Mental diseases, Metabolic 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 56 12 13 71
Amyotrophic Lateral Sclerosis Type 2 12 52 29 6 15
Als2 56 12 52 73
Amyotrophic Lateral Sclerosis 2 12 73
Als, Juvenile 56 54
Alsj 56 73
Sclerosis, Lateral, Amyotrophic, Type Type 2 39
Amyotrophic Lateral Sclerosis Juvenile 2 73
Amyotrophic Lateral Sclerosis Juvenile 73
Als, Juvenile; Alsj 56

Characteristics:

OMIM:

56
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:

31
amyotrophic lateral sclerosis 2, juvenile:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive slow progression


Classifications:



Summaries for Amyotrophic Lateral Sclerosis 2, Juvenile

UniProtKB/Swiss-Prot : 73 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 primary lateral sclerosis, adult, 1 and lateral sclerosis, 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). 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.

More information from OMIM: 205100 PS105400

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 top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 primary lateral sclerosis, adult, 1 33.2 SOD1 ALS2
2 lateral sclerosis 32.8 SOD1 FAM117B C2CD6 ALS2
3 amyotrophic lateral sclerosis 4, juvenile 32.4 SOD1 ALS2
4 progressive bulbar palsy 31.7 SOD1 ALS2
5 amyotrophic lateral sclerosis 19 31.7 SOD1 ALS2
6 amyotrophic lateral sclerosis type 5 31.7 SOD1 ALS2
7 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 31.6 SOD1 ALS2
8 amyotrophic lateral sclerosis 9 31.6 SOD1 ALS2
9 amyotrophic lateral sclerosis type 6 31.5 SOD1 ALS2
10 pontocerebellar hypoplasia, type 2e 31.4 SOD1 ALS2
11 amyotrophic lateral sclerosis 8 31.1 SOD1 ALS2
12 juvenile amyotrophic lateral sclerosis 28.9 STRADB NIF3L1 LOC644462 C2CD6 ALS2
13 amyotrophic lateral sclerosis, juvenile, with dementia 12.7
14 primary lateral sclerosis, juvenile 12.3
15 infantile-onset ascending hereditary spastic paralysis 12.1
16 amyotrophic lateral sclerosis 1 11.7
17 spastic paralysis, infantile-onset ascending 11.7
18 hereditary spastic paraplegia 11.7
19 motor neuron disease 11.6
20 als2-related disorders 11.6
21 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 11.6
22 dystonia 11.5
23 spinocerebellar ataxia 2 11.2
24 hemochromatosis, type 1 11.2
25 charcot-marie-tooth disease, axonal, type 2e 11.2
26 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 11.0
27 spastic paraplegia 4, autosomal dominant 11.0
28 amyotrophic lateral sclerosis 21 11.0
29 amyotrophic lateral sclerosis 3 11.0
30 amyotrophic lateral sclerosis 7 11.0
31 amyotrophic lateral sclerosis 11 11.0
32 amyotrophic lateral sclerosis 12 11.0
33 amyotrophic lateral sclerosis 16, juvenile 11.0
34 amyotrophic lateral sclerosis 17 11.0
35 amyotrophic lateral sclerosis 18 11.0
36 amyotrophic lateral sclerosis 20 11.0
37 spastic paraplegia 57, autosomal recessive 11.0
38 spastic paraplegia 64, autosomal recessive 11.0
39 amyotrophic lateral sclerosis type 14 11.0
40 amyotrophic lateral sclerosis type 15 11.0
41 charcot-marie-tooth disease 11.0
42 pseudobulbar palsy 11.0
43 paraplegia 10.6
44 arteriolosclerosis 10.2 ICA1L FAM117B
45 autoimmune lymphoproliferative syndrome 10.2
46 spasticity 10.2
47 scoliosis 10.1
48 neuromuscular disease 10.1
49 lymphopenia 10.1
50 chromosomal triplication 10.1

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:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 dystonia 31 occasional (7.5%) HP:0001332
2 hyperreflexia 31 HP:0001347
3 dysphagia 31 HP:0002015
4 babinski sign 31 HP:0003487
5 hand muscle atrophy 31 HP:0009130
6 amyotrophic lateral sclerosis 31 HP:0007354
7 drooling 31 HP:0002307
8 distal amyotrophy 31 HP:0003693
9 lower limb spasticity 31 HP:0002061
10 spastic gait 31 HP:0002064
11 spastic tetraparesis 31 HP:0001285
12 anarthria 31 HP:0002425
13 spasticity of pharyngeal muscles 31 HP:0002501
14 spastic dysarthria 31 HP:0002464
15 difficulty in tongue movements 31 HP:0000183
16 abnormal upper motor neuron morphology 31 HP:0002127
17 pseudobulbar behavioral symptoms 31 HP:0002193
18 upper limb spasticity 31 HP:0006986
19 abnormal lower motor neuron morphology 31 HP:0002366
20 emg: chronic denervation signs 31 HP:0003444
21 spasticity of facial muscles 31 HP:0002491

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
dysarthria
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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Mesenchymal Stem Cells Escalated Application in Amyotrophic Lateral Sclerosis Patients: Study Design of a Phase I Trial Completed NCT02987413 Phase 1

Search 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:

40
Brain, Spinal Cord, Tongue, Retina

Publications for Amyotrophic Lateral Sclerosis 2, Juvenile

Articles related to Amyotrophic Lateral Sclerosis 2, Juvenile:

(show all 18)
# Title Authors PMID Year
1
ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. 61 56 6
24562058 2014
2
Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis. 56 6
16240357 2005
3
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. 56 6
11586297 2001
4
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. 56 6
11586298 2001
5
Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. 56 6
7920663 1994
6
Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy. 56 6
2328408 1990
7
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 6
21914052 2012
8
Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan. 56
20018642 2009
9
ALS2-Related Disorders 6
20301421 2005
10
Amyotrophic Lateral Sclerosis Overview 6
20301623 2001
11
A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34. 56
9889004 1999
12
Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33. 56
9933298 1998
13
Juvenile amyotrophic lateral sclerosis in two brothers from an inbred community. 56
5173366 1971
14
Amyotrophic familial spastic paraplegia. 56
13133050 1954
15
Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function. 61
30224357 2018
16
Mitochondria-associated membranes in aging and senescence: structure, function, and dynamics. 61
29491385 2018
17
Deciphering the structure and function of Als2cr4 in the mouse retina. 61
20375344 2010
18
[Motor neuron diseases. Present]. 54
9044569 1996

Variations for Amyotrophic Lateral Sclerosis 2, Juvenile

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

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALS2 NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter)SNV Pathogenic 183239 rs730882255 2:202609149-202609149 2:201744426-201744426
2 ALS2 NM_020919.4(ALS2):c.4573dup (p.Val1525fs)duplication Pathogenic 183240 rs730882256 2:202571575-202571576 2:201706852-201706853
3 ALS2 NM_020919.4(ALS2):c.138del (p.Ala47fs)deletion Pathogenic 4405 rs386134173 2:202631989-202631989 2:201767266-201767266
4 ALS2 NM_001135745.2(ALS2):c.553del (p.Thr185fs)deletion Pathogenic 4414 rs386134174 2:202626164-202626164 2:201761441-201761441
5 ALS2 NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter)SNV Pathogenic 533743 rs369577952 2:202622363-202622363 2:201757640-201757640
6 ALS2 NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter)SNV Pathogenic/Likely pathogenic 393199 rs767350733 2:202589115-202589115 2:201724392-201724392
7 ALS2 NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)SNV Pathogenic/Likely pathogenic 804392 2:202626116-202626116 2:201761393-201761393
8 ALS2 NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter)SNV Likely pathogenic 804391 2:202609047-202609047 2:201744324-201744324
9 ALS2 NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)SNV Conflicting interpretations of pathogenicity 241307 rs190369242 2:202622481-202622481 2:201757758-201757758
10 ALS2 NM_020919.4(ALS2):c.1304A>T (p.Gln435Leu)SNV Uncertain significance 225296 rs1085307055 2:202622292-202622292 2:201757569-201757569
11 ALS2 NM_020919.4(ALS2):c.3134A>T (p.Lys1045Met)SNV Uncertain significance 580658 rs781051642 2:202591435-202591435 2:201726712-201726712

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

GO Terms for Amyotrophic Lateral Sclerosis 2, Juvenile

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to potassium ion GO:0035865 8.62 SOD1 CARF

Sources for Amyotrophic Lateral Sclerosis 2, Juvenile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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