ALS20
MCID: AMY063
MIFTS: 23

Amyotrophic Lateral Sclerosis 20 (ALS20)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 20

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 20:

Name: Amyotrophic Lateral Sclerosis 20 58 12 76 30 6 74
Als20 58 12 76
Amyotrophic Lateral Sclerosis Type 20 12 15
Sclerosis, Lateral, Amyotrophic, Type 20 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
amyotrophic lateral sclerosis 20:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060211
OMIM 58 615426
MeSH 45 D000690
UMLS 74 C3715156

Summaries for Amyotrophic Lateral Sclerosis 20

UniProtKB/Swiss-Prot : 76 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 amyotrophic lateral sclerosis 1 and intermittent claudication. An important gene associated with Amyotrophic Lateral Sclerosis 20 is HNRNPA1 (Heterogeneous Nuclear Ribonucleoprotein A1). Affiliated tissues include brain and spinal cord, and related phenotypes are rimmed vacuoles and amyotrophic lateral sclerosis

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

Description from OMIM: 615426

Related Diseases for Amyotrophic Lateral Sclerosis 20

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 20

Human phenotypes related to Amyotrophic Lateral Sclerosis 20:

33
# Description HPO Frequency HPO Source Accession
1 rimmed vacuoles 33 HP:0003805
2 amyotrophic lateral sclerosis 33 HP:0007354
3 muscular dystrophy 33 HP:0003560
4 elevated alkaline phosphatase 33 HP:0003155
5 muscle fiber inclusion bodies 33 HP:0100299

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
amyotrophic lateral sclerosis

Clinical features from OMIM:

615426

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 30 HNRNPA1

Anatomical Context for Amyotrophic Lateral Sclerosis 20

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 20:

42
Brain, Spinal Cord

Publications for Amyotrophic Lateral Sclerosis 20

Articles related to Amyotrophic Lateral Sclerosis 20:

# Title Authors Year
1
Amyotrophic Lateral Sclerosis Type 20 - In Silico Analysis and Molecular Dynamics Simulation of hnRNPA1. ( 27414033 )
2016

Variations for Amyotrophic Lateral Sclerosis 20

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

76
# 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

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 20:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HNRNPA1 NM_031157.3(HNRNPA1): c.940G> A (p.Asp314Asn) single nucleotide variant Pathogenic rs397518453 GRCh37 Chromosome 12, 54677628: 54677628
2 HNRNPA1 NM_031157.3(HNRNPA1): c.940G> A (p.Asp314Asn) single nucleotide variant Pathogenic rs397518453 GRCh38 Chromosome 12, 54283844: 54283844
3 HNRNPA1 NM_031157.3(HNRNPA1): c.956A> G (p.Asn319Ser) single nucleotide variant Pathogenic rs397518454 GRCh37 Chromosome 12, 54677644: 54677644
4 HNRNPA1 NM_031157.3(HNRNPA1): c.956A> G (p.Asn319Ser) single nucleotide variant Pathogenic rs397518454 GRCh38 Chromosome 12, 54283860: 54283860

Expression for Amyotrophic Lateral Sclerosis 20

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

Pathways for Amyotrophic Lateral Sclerosis 20

GO Terms for Amyotrophic Lateral Sclerosis 20

Sources for Amyotrophic Lateral Sclerosis 20

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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