MCID: AMY067
MIFTS: 38

Amyotrophic Lateral Sclerosis 18

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 18

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 18:

Name: Amyotrophic Lateral Sclerosis 18 57 12 75 29 13 6 73
Als18 57 12 75
Amyotrophic Lateral Sclerosis Type 18 12 15
Sclerosis, Lateral, Amyotrophic, Type 18 40

Characteristics:

HPO:

32
amyotrophic lateral sclerosis 18:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Amyotrophic Lateral Sclerosis 18

UniProtKB/Swiss-Prot : 75 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 expressive language disorder and amyotrophic lateral sclerosis type 6. 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 Propofol 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:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 expressive language disorder 10.2 FUS TARDBP
2 amyotrophic lateral sclerosis type 6 10.1 FUS TARDBP
3 amyotrophic lateral sclerosis type 14 10.1 FUS TARDBP
4 lethal congenital contracture syndrome 1 10.1 FUS TARDBP
5 amyotrophic lateral sclerosis 11 10.1 FUS TARDBP
6 amyotrophic lateral sclerosis 7 10.0 FUS TARDBP
7 anterior horn cell disease 10.0 FUS TARDBP
8 ideomotor apraxia 10.0 FUS TARDBP
9 amyotrophic lateral sclerosis 9 10.0 FUS TARDBP
10 semantic dementia 9.9 C9orf72 TARDBP
11 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.9 FUS TARDBP
12 progressive muscular atrophy 9.9 C9orf72 TARDBP
13 spinocerebellar ataxia 31 9.8 FUS TARDBP
14 perry syndrome 9.7 C9orf72 TARDBP
15 pick disease of brain 9.7 FUS TARDBP
16 nominal aphasia 9.5 C9orf72 FUS TARDBP
17 basal ganglia disease 9.4 C9orf72 FUS TARDBP
18 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.4 C9orf72 FUS TARDBP
19 speech and communication disorders 9.4 C9orf72 FUS TARDBP
20 dementia 9.3 C9orf72 FUS TARDBP
21 supranuclear palsy, progressive, 1 9.2 C9orf72 TARDBP
22 brown-vialetto-van laere syndrome 9.0 C9orf72 SOD1 TARDBP
23 amyotrophic lateral sclerosis 21 8.5 C9orf72 FUS SOD1 TARDBP
24 central nervous system disease 8.5 C9orf72 FUS SOD1 TARDBP
25 nervous system disease 8.5 C9orf72 FUS SOD1 TARDBP
26 motor neuron disease 8.0 C9orf72 FUS PFN1 SOD1 TARDBP
27 lateral sclerosis 8.0 C9orf72 FUS PFN1 SOD1 TARDBP
28 frontotemporal dementia 8.0 C9orf72 FUS PFN1 SOD1 TARDBP
29 amyotrophic lateral sclerosis 1 8.0 C9orf72 FUS PFN1 SOD1 TARDBP

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

Clinical features from OMIM:

614808

Human phenotypes related to Amyotrophic Lateral Sclerosis 18:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 spasticity 32 HP:0001257
2 dysarthria 32 HP:0001260
3 muscle weakness 32 HP:0001324
4 dysphagia 32 HP:0002015
5 fasciculations 32 HP:0002380
6 skeletal muscle atrophy 32 HP:0003202
7 amyotrophic lateral sclerosis 32 HP:0007354

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

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 PFN1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.72 TNFRSF8
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.72 PFN1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.72 PFN1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.72 FUS
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.72 PFN1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.72 TNFRSF8
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.72 PFN1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.72 PFN1 TNFRSF8 FUS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.72 PFN1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.72 PFN1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.72 FUS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.72 FUS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.72 FUS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.72 FUS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.72 TNFRSF8
17 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.72 TNFRSF8
18 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.72 FUS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.72 TNFRSF8
20 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.72 FUS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.72 FUS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.72 PFN1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 PFN1

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 18:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.35 C9orf72 PFN1 SOD1 TARDBP TNFRSF8
2 immune system MP:0005387 9.02 C9orf72 PFN1 SOD1 TARDBP TNFRSF8

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
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Remifentanil Approved Phase 4 132875-61-7 60815
4 Analgesics Phase 4
5 Anesthetics Phase 4
6 Anesthetics, Dissociative Phase 4
7 Anesthetics, General Phase 4
8 Anesthetics, Intravenous Phase 4
9 Central Nervous System Depressants Phase 4
10 Excitatory Amino Acid Antagonists Phase 4
11 Excitatory Amino Acids Phase 4
12 Hypnotics and Sedatives Phase 4
13 Neurotransmitter Agents Phase 4
14 Peripheral Nervous System Agents Phase 4
15
Hydrocortisone Approved, Vet_approved 50-23-7 5754
16 Cortisol succinate
17 Hydrocortisone 17-butyrate 21-propionate
18 Hydrocortisone acetate

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 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 29 PFN1

Anatomical Context for Amyotrophic Lateral Sclerosis 18

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 18:

41
Brain, Spinal Cord, Skeletal Muscle

Publications for Amyotrophic Lateral Sclerosis 18

Variations for Amyotrophic Lateral Sclerosis 18

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

75
# 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 cytoplasm GO:0005737 9.63 C9orf72 FUS PFN1 SOD1 TARDBP TNFRSF8
2 nucleus GO:0005634 9.1 C9orf72 FUS PFN1 SOD1 TARDBP TNFRSF8
3 perikaryon GO:0043204 8.96 C9orf72 FUS

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of protein phosphorylation GO:0001933 8.62 C9orf72 TARDBP

Sources for Amyotrophic Lateral Sclerosis 18

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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