ALS20
MCID: AMY063
MIFTS: 27

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 57 12 75 29 6 73
Als20 57 12 75
Amyotrophic Lateral Sclerosis Type 20 12 15
Sclerosis, Lateral, Amyotrophic, Type 20 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
amyotrophic lateral sclerosis 20:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615426
Disease Ontology 12 DOID:0060211
MeSH 44 D000690
UMLS 73 C3715156

Summaries for Amyotrophic Lateral Sclerosis 20

UniProtKB/Swiss-Prot : 75 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 11 and dental anomalies and short stature. 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

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
amyotrophic lateral sclerosis


Clinical features from OMIM:

615426

Human phenotypes related to Amyotrophic Lateral Sclerosis 20:

32
# Description HPO Frequency HPO Source Accession
1 rimmed vacuoles 32 HP:0003805
2 amyotrophic lateral sclerosis 32 HP:0007354
3 muscular dystrophy 32 HP:0003560
4 elevated alkaline phosphatase 32 HP:0003155
5 muscle fiber inclusion bodies 32 HP:0100299

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:

41
Brain, Spinal Cord

Publications for Amyotrophic Lateral Sclerosis 20

Variations for Amyotrophic Lateral Sclerosis 20

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

75
# 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

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

# Name GO ID Score Top Affiliating Genes
1 ficolin-1-rich granule lumen GO:1904813 8.96 A1BG DERA
2 secretory granule lumen GO:0034774 8.62 A1BG DERA

Sources for Amyotrophic Lateral Sclerosis 20

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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