MCID: ALS003
MIFTS: 16

Als2-Related Disorders

Aliases & Classifications for Als2-Related Disorders

MalaCards integrated aliases for Als2-Related Disorders:

Name: Als2-Related Disorders 25 29 6

Summaries for Als2-Related Disorders

MalaCards based summary : Als2-Related Disorders is related to amyotrophic lateral sclerosis 1 and primary lateral sclerosis, juvenile. An important gene associated with Als2-Related Disorders is ALS2 (Alsin Rho Guanine Nucleotide Exchange Factor ALS2).

GeneReviews: NBK1243

Related Diseases for Als2-Related Disorders

Diseases related to Als2-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 1 10.0
2 primary lateral sclerosis, juvenile 10.0
3 spastic paralysis, infantile-onset ascending 10.0
4 lateral sclerosis 10.0
5 motor neuron disease 10.0
6 hereditary spastic paraplegia 10.0
7 paraplegia 10.0
8 infantile-onset ascending hereditary spastic paralysis 10.0
9 juvenile amyotrophic lateral sclerosis 10.0
10 spasticity 10.0

Graphical network of the top 20 diseases related to Als2-Related Disorders:



Diseases related to Als2-Related Disorders

Symptoms & Phenotypes for Als2-Related Disorders

Drugs & Therapeutics for Als2-Related Disorders

Search Clinical Trials , NIH Clinical Center for Als2-Related Disorders

Genetic Tests for Als2-Related Disorders

Genetic tests related to Als2-Related Disorders:

# Genetic test Affiliating Genes
1 Als2-Related Disorders 29

Anatomical Context for Als2-Related Disorders

Publications for Als2-Related Disorders

Articles related to Als2-Related Disorders:

(show all 33)
# Title Authors PMID Year
1
Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges. 25
25316630 2015
2
ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. 25
24562058 2014
3
Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. 25
23109145 2012
4
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. 25
21842496 2011
5
Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan. 25
20018642 2009
6
A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family. 25
19122027 2009
7
Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe. 25
18523452 2008
8
Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish. 25
18558633 2008
9
Distal axonopathy in an alsin-deficient mouse model. 25
17855450 2007
10
Adult-onset primary lateral sclerosis is not associated with mutations in the ALS2 gene. 25
17698795 2007
11
Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration. 25
17566607 2007
12
The Rab5 activator ALS2/alsin acts as a novel Rac1 effector through Rac1-activated endocytosis. 25
17409386 2007
13
Progressive spinal axonal degeneration and slowness in ALS2-deficient mice. 25
16802286 2006
14
Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking. 25
16321985 2006
15
Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis. 25
16240357 2005
16
Loss of ALS2 function is insufficient to trigger motor neuron degeneration in knock-out mice but predisposes neurons to oxidative stress. 25
16107644 2005
17
A Rac1/phosphatidylinositol 3-kinase/Akt3 anti-apoptotic pathway, triggered by AlsinLF, the product of the ALS2 gene, antagonizes Cu/Zn-superoxide dismutase (SOD1) mutant-induced motoneuronal cell death. 25
15579468 2005
18
Homo-oligomerization of ALS2 through its unique carboxyl-terminal regions is essential for the ALS2-associated Rab5 guanine nucleotide exchange activity and its regulatory function on endosome trafficking. 25
15247254 2004
19
Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor. 25
15033976 2004
20
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). 25
15106121 2004
21
Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease. 25
14668431 2003
22
ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics. 25
12837691 2003
23
Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. 25
12601111 2003
24
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. 25
11586297 2001
25
Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. 25
9933301 1998
26
Familial childhood primary lateral sclerosis with associated gaze paresis. 25
8719747 1995
27
Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. 25
7920663 1994
28
Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. 25
1606479 1992
29
Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy. 25
2328408 1990
30
Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations. 61
33155358 2021
31
ALS2-related disorders in Spanish children. 61
33409823 2021
32
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant. 61
30128655 2018
33
ALS2-Related Disorders 61
20301421 2005

Variations for Als2-Related Disorders

ClinVar genetic disease variations for Als2-Related Disorders:

6 (show top 50) (show all 116)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALS2 NM_020919.4(ALS2):c.3529G>T (p.Gly1177Ter) SNV Pathogenic 208553 rs386134180 GRCh37: 2:202588148-202588148
GRCh38: 2:201723425-201723425
2 ALS2 NM_020919.4(ALS2):c.3624+5G>C SNV Pathogenic 208554 rs386134186 GRCh37: 2:202588048-202588048
GRCh38: 2:201723325-201723325
3 ALS2 NM_020919.3(ALS2):c.-329G>A SNV Uncertain significance 333608 rs765669374 GRCh37: 2:202645868-202645868
GRCh38: 2:201781145-201781145
4 ALS2 NM_020919.4(ALS2):c.4366G>C (p.Gly1456Arg) SNV Uncertain significance 333587 rs886055452 GRCh37: 2:202572629-202572629
GRCh38: 2:201707906-201707906
5 ALS2 NM_020919.4(ALS2):c.4416G>A (p.Thr1472=) SNV Uncertain significance 333585 rs200202953 GRCh37: 2:202571733-202571733
GRCh38: 2:201707010-201707010
6 ALS2 NM_020919.4(ALS2):c.997G>T (p.Ala333Ser) SNV Uncertain significance 333600 rs777806515 GRCh37: 2:202625720-202625720
GRCh38: 2:201760997-201760997
7 ALS2 NM_020919.4(ALS2):c.20+9A>G SNV Uncertain significance 333602 rs763370210 GRCh37: 2:202633580-202633580
GRCh38: 2:201768857-201768857
8 ALS2 NM_020919.4(ALS2):c.*1249G>A SNV Uncertain significance 333571 rs886055451 GRCh37: 2:202565325-202565325
GRCh38: 2:201700602-201700602
9 ALS2 NM_020919.4(ALS2):c.1251A>G (p.Ser417=) SNV Uncertain significance 333599 rs750482532 GRCh37: 2:202622345-202622345
GRCh38: 2:201757622-201757622
10 ALS2 NM_020919.4(ALS2):c.-93A>G SNV Uncertain significance 333604 rs373055404 GRCh37: 2:202645632-202645632
GRCh38: 2:201780909-201780909
11 ALS2 NM_020919.4(ALS2):c.3876G>A (p.Lys1292=) SNV Uncertain significance 333590 rs200417604 GRCh37: 2:202580523-202580523
GRCh38: 2:201715800-201715800
12 ALS2 NM_020919.4(ALS2):c.2909G>T (p.Gly970Val) SNV Uncertain significance 333593 rs375742430 GRCh37: 2:202592431-202592431
GRCh38: 2:201727708-201727708
13 ALS2 NM_020919.4(ALS2):c.4404-14C>T SNV Uncertain significance 333586 rs375025577 GRCh37: 2:202571759-202571759
GRCh38: 2:201707036-201707036
14 ALS2 NM_020919.4(ALS2):c.*1100A>G SNV Uncertain significance 333573 rs568221522 GRCh37: 2:202565474-202565474
GRCh38: 2:201700751-201700751
15 ALS2 NM_020919.4(ALS2):c.1805G>A (p.Arg602His) SNV Uncertain significance 333596 rs201496655 GRCh37: 2:202614445-202614445
GRCh38: 2:201749722-201749722
16 ALS2 NM_020919.4(ALS2):c.248T>G (p.Ile83Ser) SNV Uncertain significance 333601 rs886055455 GRCh37: 2:202626469-202626469
GRCh38: 2:201761746-201761746
17 ALS2 NM_020919.4(ALS2):c.1283C>A (p.Thr428Asn) SNV Uncertain significance 333598 rs886055454 GRCh37: 2:202622313-202622313
GRCh38: 2:201757590-201757590
18 ALS2 NM_020919.4(ALS2):c.*912A>G SNV Uncertain significance 333576 rs572942753 GRCh37: 2:202565662-202565662
GRCh38: 2:201700939-201700939
19 ALS2 NM_020919.4(ALS2):c.4123-4T>C SNV Uncertain significance 333588 rs886055453 GRCh37: 2:202574765-202574765
GRCh38: 2:201710042-201710042
20 ALS2 NM_020919.3(ALS2):c.-328A>G SNV Uncertain significance 333607 rs137949180 GRCh37: 2:202645867-202645867
GRCh38: 2:201781144-201781144
21 ALS2 NM_020919.4(ALS2):c.2241C>T (p.Tyr747=) SNV Uncertain significance 241310 rs3219160 GRCh37: 2:202606507-202606507
GRCh38: 2:201741784-201741784
22 ALS2 NM_020919.4(ALS2):c.*1538C>G SNV Uncertain significance 333570 rs868173236 GRCh37: 2:202565036-202565036
GRCh38: 2:201700313-201700313
23 ALS2 NM_020919.4(ALS2):c.*15T>G SNV Uncertain significance 333582 rs561331219 GRCh37: 2:202566559-202566559
GRCh38: 2:201701836-201701836
24 ALS2 NM_020919.4(ALS2):c.1677A>G (p.Lys559=) SNV Uncertain significance 333597 rs367640165 GRCh37: 2:202617929-202617929
GRCh38: 2:201753206-201753206
25 ALS2 NM_020919.4(ALS2):c.1479_1480insCGTGC (p.Leu495fs) Insertion Uncertain significance 631841 rs1559076828 GRCh37: 2:202619386-202619387
GRCh38: 2:201754663-201754664
26 ALS2 NM_020919.4(ALS2):c.*1501A>G SNV Uncertain significance 894875 GRCh37: 2:202565073-202565073
GRCh38: 2:201700350-201700350
27 ALS2 NM_020919.4(ALS2):c.*1398C>A SNV Uncertain significance 894876 GRCh37: 2:202565176-202565176
GRCh38: 2:201700453-201700453
28 ALS2 NM_020919.4(ALS2):c.*1328G>T SNV Uncertain significance 894877 GRCh37: 2:202565246-202565246
GRCh38: 2:201700523-201700523
29 ALS2 NM_020919.4(ALS2):c.*1259A>G SNV Uncertain significance 894878 GRCh37: 2:202565315-202565315
GRCh38: 2:201700592-201700592
30 ALS2 NM_020919.4(ALS2):c.*584G>A SNV Uncertain significance 894945 GRCh37: 2:202565990-202565990
GRCh38: 2:201701267-201701267
31 ALS2 NM_020919.4(ALS2):c.*504G>A SNV Uncertain significance 894946 GRCh37: 2:202566070-202566070
GRCh38: 2:201701347-201701347
32 ALS2 NM_020919.4(ALS2):c.*426T>A SNV Uncertain significance 894947 GRCh37: 2:202566148-202566148
GRCh38: 2:201701425-201701425
33 ALS2 NM_020919.4(ALS2):c.4958G>A (p.Arg1653His) SNV Uncertain significance 333583 rs190606035 GRCh37: 2:202566590-202566590
GRCh38: 2:201701867-201701867
34 ALS2 NM_020919.4(ALS2):c.-31T>A SNV Uncertain significance 333603 rs886055456 GRCh37: 2:202633639-202633639
GRCh38: 2:201768916-201768916
35 ALS2 NM_020919.4(ALS2):c.3416G>A (p.Arg1139Gln) SNV Uncertain significance 895078 GRCh37: 2:202589114-202589114
GRCh38: 2:201724391-201724391
36 ALS2 NM_020919.4(ALS2):c.3394C>T (p.Arg1132Cys) SNV Uncertain significance 895079 GRCh37: 2:202589136-202589136
GRCh38: 2:201724413-201724413
37 ALS2 NM_020919.4(ALS2):c.3345C>T (p.Tyr1115=) SNV Uncertain significance 895080 GRCh37: 2:202590081-202590081
GRCh38: 2:201725358-201725358
38 ALS2 NM_020919.4(ALS2):c.2528G>A (p.Arg843Gln) SNV Uncertain significance 895141 GRCh37: 2:202598051-202598051
GRCh38: 2:201733328-201733328
39 ALS2 NM_020919.4(ALS2):c.2472C>T (p.Asp824=) SNV Uncertain significance 895142 GRCh37: 2:202598107-202598107
GRCh38: 2:201733384-201733384
40 ALS2 NM_020919.4(ALS2):c.2450A>G (p.Gln817Arg) SNV Uncertain significance 895143 GRCh37: 2:202598129-202598129
GRCh38: 2:201733406-201733406
41 ALS2 NM_020919.4(ALS2):c.1171G>A (p.Ala391Thr) SNV Uncertain significance 465179 rs41308816 GRCh37: 2:202622425-202622425
GRCh38: 2:201757702-201757702
42 ALS2 NM_020919.4(ALS2):c.339C>T (p.Tyr113=) SNV Uncertain significance 895271 GRCh37: 2:202626378-202626378
GRCh38: 2:201761655-201761655
43 ALS2 NM_020919.4(ALS2):c.331G>A (p.Val111Ile) SNV Uncertain significance 533752 rs61745503 GRCh37: 2:202626386-202626386
GRCh38: 2:201761663-201761663
44 ALS2 NM_020919.4(ALS2):c.*1219C>G SNV Uncertain significance 896319 GRCh37: 2:202565355-202565355
GRCh38: 2:201700632-201700632
45 ALS2 NM_020919.4(ALS2):c.*1093C>T SNV Uncertain significance 896320 GRCh37: 2:202565481-202565481
GRCh38: 2:201700758-201700758
46 ALS2 NM_020919.4(ALS2):c.*302A>G SNV Uncertain significance 896383 GRCh37: 2:202566272-202566272
GRCh38: 2:201701549-201701549
47 ALS2 NM_020919.4(ALS2):c.3983G>A (p.Ser1328Asn) SNV Uncertain significance 896447 GRCh37: 2:202580416-202580416
GRCh38: 2:201715693-201715693
48 ALS2 NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala) SNV Uncertain significance 533749 rs41308840 GRCh37: 2:202591523-202591523
GRCh38: 2:201726800-201726800
49 ALS2 NM_020919.4(ALS2):c.2961A>G (p.Ser987=) SNV Uncertain significance 896523 GRCh37: 2:202591953-202591953
GRCh38: 2:201727230-201727230
50 ALS2 NM_020919.4(ALS2):c.2953C>T (p.Leu985Phe) SNV Uncertain significance 896524 GRCh37: 2:202591961-202591961
GRCh38: 2:201727238-201727238

Expression for Als2-Related Disorders

Search GEO for disease gene expression data for Als2-Related Disorders.

Pathways for Als2-Related Disorders

GO Terms for Als2-Related Disorders

Sources for Als2-Related Disorders

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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