ALS18
MCID: AMY067
MIFTS: 32

Amyotrophic Lateral Sclerosis 18 (ALS18)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 18

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 18:

Name: Amyotrophic Lateral Sclerosis 18 58 12 76 30 13 6 74
Als18 58 12 76
Amyotrophic Lateral Sclerosis Type 18 12 15
Sclerosis, Lateral, Amyotrophic, Type 18 41

Characteristics:

HPO:

33
amyotrophic lateral sclerosis 18:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Amyotrophic Lateral Sclerosis 18

UniProtKB/Swiss-Prot : 76 Amyotrophic lateral sclerosis 18: 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 18, also known as als18, is related to dementia and brown-vialetto-van laere syndrome. An important gene associated with Amyotrophic Lateral Sclerosis 18 is PFN1 (Profilin 1), and among its related pathways/superpathways is Association Between Physico-Chemical Features and Toxicity Associated Pathways. The drugs Ketamine and Remifentanil have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skeletal muscle, and related phenotypes are spasticity and dysarthria

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the PFN1 gene on chromosome 17.

Description from OMIM: 614808

Related Diseases for Amyotrophic Lateral Sclerosis 18

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 18 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dementia 9.7 C9orf72 FUS
2 brown-vialetto-van laere syndrome 9.7 C9orf72 SOD1
3 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.6 C9orf72 FUS
4 nervous system disease 9.5 C9orf72 SOD1
5 amyotrophic lateral sclerosis 21 9.4 C9orf72 FUS SOD1
6 amyotrophic lateral sclerosis 1 9.1 C9orf72 FUS PFN1 SOD1
7 lateral sclerosis 9.1 C9orf72 FUS PFN1 SOD1
8 motor neuron disease 9.1 C9orf72 FUS PFN1 SOD1
9 frontotemporal dementia 9.1 C9orf72 FUS PFN1 SOD1

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 18:



Diseases related to Amyotrophic Lateral Sclerosis 18

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 18

Human phenotypes related to Amyotrophic Lateral Sclerosis 18:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 spasticity 33 HP:0001257
2 dysarthria 33 HP:0001260
3 muscle weakness 33 HP:0001324
4 dysphagia 33 HP:0002015
5 skeletal muscle atrophy 33 HP:0003202
6 amyotrophic lateral sclerosis 33 HP:0007354
7 fasciculations 33 HP:0002380

Clinical features from OMIM:

614808

GenomeRNAi Phenotypes related to Amyotrophic Lateral Sclerosis 18 according to GeneCards Suite gene sharing:

27 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.1 PFN1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.1 PFN1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.1 PFN1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.1 FUS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.1 PFN1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-128 10.1 SOD1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10.1 SOD1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.1 PFN1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.1 FUS PFN1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.1 PFN1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.1 PFN1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.1 FUS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.1 SOD1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.1 FUS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.1 SOD1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-3 10.1 FUS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.1 FUS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.1 SOD1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.1 SOD1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.1 SOD1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.1 SOD1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.1 FUS SOD1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.1 PFN1 SOD1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.1 FUS
25 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.1 FUS
26 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.1 PFN1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.1 PFN1

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 18

Drugs for Amyotrophic Lateral Sclerosis 18 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
2
Remifentanil Approved Phase 4 132875-61-7 60815
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4 Anesthetics Phase 4
5 Excitatory Amino Acid Antagonists Phase 4
6 Anesthetics, General Phase 4
7 Anesthetics, Dissociative Phase 4
8 Anesthetics, Intravenous Phase 4
9 Excitatory Amino Acids Phase 4
10 Analgesics Phase 4
11 Hypnotics and Sedatives Phase 4
12 Central Nervous System Depressants Phase 4
13 Neurotransmitter Agents Phase 4
14 Peripheral Nervous System Agents Phase 4
15
Hydrocortisone Approved, Vet_approved 50-23-7 5754
16
Hydrocortisone acetate Approved, Vet_approved 50-03-3
17 Hydrocortisone 17-butyrate 21-propionate
18 Hydrocortisone hemisuccinate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparing Ketamine and Propofol Anesthesia for Electroconvulsive Therapy Completed NCT01935115 Phase 4 Propofol;Ketamine
2 MAPP: Imagery-focused Therapy for Bipolar Disorder Completed NCT01981018 Not Applicable
3 Evaluating the Effectiveness of Imagery Focussed Therapy Recruiting NCT03750305 Not Applicable
4 Neuropsychiatric Mechanisms of Change in Mentalization Based Treatment of Borderline Personality Disorder (MENTAB) Terminated NCT01720953

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 18

Genetic Tests for Amyotrophic Lateral Sclerosis 18

Genetic tests related to Amyotrophic Lateral Sclerosis 18:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis 18 30 PFN1

Anatomical Context for Amyotrophic Lateral Sclerosis 18

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 18:

42
Brain, Spinal Cord, Skeletal Muscle

Publications for Amyotrophic Lateral Sclerosis 18

Articles related to Amyotrophic Lateral Sclerosis 18:

# Title Authors Year
1
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. ( 22801503 )
2012

Variations for Amyotrophic Lateral Sclerosis 18

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 18:

76
# Symbol AA change Variation ID SNP ID
1 PFN1 p.Cys71Gly VAR_068925 rs387907264
2 PFN1 p.Met114Thr VAR_068926 rs387907265
3 PFN1 p.Gly118Val VAR_068928 rs387907266

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 18:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PFN1 NM_005022.3(PFN1): c.211T> G (p.Cys71Gly) single nucleotide variant Pathogenic rs387907264 GRCh37 Chromosome 17, 4850037: 4850037
2 PFN1 NM_005022.3(PFN1): c.211T> G (p.Cys71Gly) single nucleotide variant Pathogenic rs387907264 GRCh38 Chromosome 17, 4946742: 4946742
3 PFN1 NM_005022.3(PFN1): c.341T> C (p.Met114Thr) single nucleotide variant Pathogenic rs387907265 GRCh37 Chromosome 17, 4849277: 4849277
4 PFN1 NM_005022.3(PFN1): c.341T> C (p.Met114Thr) single nucleotide variant Pathogenic rs387907265 GRCh38 Chromosome 17, 4945982: 4945982
5 PFN1 NM_005022.3(PFN1): c.353G> T (p.Gly118Val) single nucleotide variant Pathogenic rs387907266 GRCh37 Chromosome 17, 4849265: 4849265
6 PFN1 NM_005022.3(PFN1): c.353G> T (p.Gly118Val) single nucleotide variant Pathogenic rs387907266 GRCh38 Chromosome 17, 4945970: 4945970
7 PFN1 NM_005022.3(PFN1): c.350A> G (p.Glu117Gly) single nucleotide variant Pathogenic rs140547520 GRCh37 Chromosome 17, 4849268: 4849268
8 PFN1 NM_005022.3(PFN1): c.350A> G (p.Glu117Gly) single nucleotide variant Pathogenic rs140547520 GRCh38 Chromosome 17, 4945973: 4945973

Expression for Amyotrophic Lateral Sclerosis 18

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 18.

Pathways for Amyotrophic Lateral Sclerosis 18

Pathways related to Amyotrophic Lateral Sclerosis 18 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.46 PFN1 SOD1

GO Terms for Amyotrophic Lateral Sclerosis 18

Cellular components related to Amyotrophic Lateral Sclerosis 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 perikaryon GO:0043204 8.62 C9orf72 FUS

Sources for Amyotrophic Lateral Sclerosis 18

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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