ALS20
MCID: AMY063
MIFTS: 31

Amyotrophic Lateral Sclerosis 20 (ALS20)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 20

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 20:

Name: Amyotrophic Lateral Sclerosis 20 57 12 72 29 6 70
Als20 57 12 72
Amyotrophic Lateral Sclerosis Type 20 12 15
Sclerosis, Lateral, Amyotrophic, Type 20 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
limited clinical information provided
based on a report of 2 affected individuals


HPO:

31
amyotrophic lateral sclerosis 20:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060211
OMIM® 57 615426
OMIM Phenotypic Series 57 PS105400
MeSH 44 D000690
UMLS 70 C3715156

Summaries for Amyotrophic Lateral Sclerosis 20

UniProtKB/Swiss-Prot : 72 Amyotrophic lateral sclerosis 20: 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 20, also known as als20, is related to lateral sclerosis and amyotrophic lateral sclerosis 1. An important gene associated with Amyotrophic Lateral Sclerosis 20 is HNRNPA1 (Heterogeneous Nuclear Ribonucleoprotein A1), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Association Between Physico-Chemical Features and Toxicity Associated Pathways. Affiliated tissues include spinal cord, and related phenotypes are rimmed vacuoles and muscular dystrophy

Disease Ontology : 12 An amyotrophic lateral sclerosis with juvenile onset that has material basis in mutation in the HNRNPA1 gene on chromosome 12.

More information from OMIM: 615426 PS105400

Related Diseases for Amyotrophic Lateral Sclerosis 20

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 Amyotrophic Lateral Sclerosis 20 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 lateral sclerosis 28.2 SOD1 PRPH PFN1 MATR3 HNRNPA1 FIG4
2 amyotrophic lateral sclerosis 1 28.2 SOD1 PRPH PFN1 MATR3 HNRNPA1 FIG4
3 amyotrophic lateral sclerosis 7 10.1 PRPH ALS2
4 progressive bulbar palsy 10.0 SOD1 ALS2
5 amyotrophic lateral sclerosis type 5 10.0 SOD1 ALS2
6 spinal muscular atrophy, distal, autosomal recessive, 4 10.0 SOD1 ALS2
7 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 10.0 PRPH MATR3
8 amyotrophic lateral sclerosis 2, juvenile 10.0 SOD1 ALS2
9 dermatopathia pigmentosa reticularis 9.9 SOD1 HNRNPA1
10 beta-thalassemia 9.9
11 sickle cell disease 9.9
12 thalassemia 9.9
13 multisystem proteinopathy 9.9 MATR3 HNRNPA1
14 amyotrophic lateral sclerosis type 14 9.9 FIG4 ALS2
15 amyotrophic lateral sclerosis 11 9.9 FIG4 ALS2
16 frontotemporal dementia 9.8 SOD1 PFN1 HNRNPA1
17 amyotrophic lateral sclerosis type 15 9.7 PRPH FIG4 ALS2
18 amyotrophic lateral sclerosis 16, juvenile 9.7 PRPH FIG4 ALS2
19 spinal muscular atrophy 9.7 SOD1 MATR3 HNRNPA1
20 amyotrophic lateral sclerosis type 12 9.6 SOD1 FIG4 ALS2
21 amyotrophic lateral sclerosis 8 9.6 SOD1 FIG4 ALS2
22 amyotrophic lateral sclerosis 4, juvenile 9.6 SOD1 FIG4 ALS2
23 amyotrophic lateral sclerosis 9 9.6 SOD1 FIG4 ALS2
24 motor neuron disease 9.6 SOD1 PFN1 HNRNPA1 ALS2
25 spinocerebellar ataxia 2 9.6 SOD1 MATR3 HNRNPA1 ALS2
26 amyotrophic lateral sclerosis 19 9.6 SOD1 PRPH MATR3 ALS2
27 amyotrophic lateral sclerosis 18 9.5 PRPH PFN1 FIG4 ALS2
28 hemochromatosis, type 1 9.4 SOD1 FIG4 ALS2
29 amyotrophic lateral sclerosis 21 9.4 PRPH MATR3 FIG4 ALS2
30 neuromuscular disease 9.4 SOD1 FIG4 ALS2
31 charcot-marie-tooth disease 9.3 SOD1 PRPH FIG4 ALS2
32 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.3 SOD1 MATR3 FIG4 ALS2
33 amyotrophic lateral sclerosis type 6 9.3 SOD1 MATR3 FIG4 ALS2
34 charcot-marie-tooth disease, axonal, type 2e 9.3 SOD1 FIG4 ALS2
35 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 8.9 SOD1 PFN1 MATR3 HNRNPA1 FIG4 ALS2

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



Diseases related to Amyotrophic Lateral Sclerosis 20

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 20

Human phenotypes related to Amyotrophic Lateral Sclerosis 20:

31
# Description HPO Frequency HPO Source Accession
1 rimmed vacuoles 31 HP:0003805
2 muscular dystrophy 31 HP:0003560
3 elevated alkaline phosphatase 31 HP:0003155
4 muscle fiber inclusion bodies 31 HP:0100299
5 amyotrophic lateral sclerosis 31 HP:0007354

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
amyotrophic lateral sclerosis

Clinical features from OMIM®:

615426 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Amyotrophic Lateral Sclerosis 20 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased nuclei size in G2M GR00096-A 8.8 ALS2 NSMCE4A PFN1

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 20

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 20

Genetic Tests for Amyotrophic Lateral Sclerosis 20

Genetic tests related to Amyotrophic Lateral Sclerosis 20:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis 20 29 HNRNPA1

Anatomical Context for Amyotrophic Lateral Sclerosis 20

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 20:

40
Spinal Cord

Publications for Amyotrophic Lateral Sclerosis 20

Articles related to Amyotrophic Lateral Sclerosis 20:

# Title Authors PMID Year
1
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. 6 57
23455423 2013
2
Lentiviral vector ALS20 yields high hemoglobin levels with low genomic integrations for treatment of beta-globinopathies. 61
33515514 2021

Variations for Amyotrophic Lateral Sclerosis 20

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 20:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HNRNPA1 NM_031157.4(HNRNPA1):c.940G>A (p.Asp314Asn) SNV Pathogenic 65452 rs397518453 GRCh37: 12:54677628-54677628
GRCh38: 12:54283844-54283844
2 HNRNPA1 NM_031157.4(HNRNPA1):c.956A>G (p.Asn319Ser) SNV Pathogenic 65453 rs397518454 GRCh37: 12:54677644-54677644
GRCh38: 12:54283860-54283860

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 20:

72
# Symbol AA change Variation ID SNP ID
1 HNRNPA1 p.Asp314Asn VAR_070588 rs397518453
2 HNRNPA1 p.Asn319Ser VAR_070590 rs397518454
3 HNRNPA1 p.Pro340Ser VAR_077533

Expression for Amyotrophic Lateral Sclerosis 20

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 20.

Pathways for Amyotrophic Lateral Sclerosis 20

Pathways related to Amyotrophic Lateral Sclerosis 20 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 SOD1 PRPH PFN1 MATR3 HNRNPA1 FIG4
2 10.99 SOD1 PFN1
3 10.71 SOD1 PRPH ALS2

GO Terms for Amyotrophic Lateral Sclerosis 20

Cellular components related to Amyotrophic Lateral Sclerosis 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.02 TNPO1 SOD1 PRPH PFN1 HNRNPA1

Biological processes related to Amyotrophic Lateral Sclerosis 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of GTPase activity GO:0043087 8.96 SOD1 ALS2
2 locomotory behavior GO:0007626 8.8 SOD1 FIG4 ALS2

Molecular functions related to Amyotrophic Lateral Sclerosis 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 miRNA binding GO:0035198 8.62 MATR3 HNRNPA1

Sources for Amyotrophic Lateral Sclerosis 20

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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