ALS18
MCID: AMY067
MIFTS: 33

Amyotrophic Lateral Sclerosis 18 (ALS18)

Categories: Genetic diseases, Mental diseases, Metabolic 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 56 12 73 29 13 6 71
Als18 56 12 73
Amyotrophic Lateral Sclerosis Type 18 12 15
Sclerosis, Lateral, Amyotrophic, Type 18 39

Characteristics:

HPO:

31
amyotrophic lateral sclerosis 18:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060209
OMIM 56 614808
OMIM Phenotypic Series 56 PS105400
MeSH 43 D000690
UMLS 71 C3553719

Summaries for Amyotrophic Lateral Sclerosis 18

UniProtKB/Swiss-Prot : 73 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 amyotrophic lateral sclerosis type 22 and pseudobulbar palsy. An important gene associated with Amyotrophic Lateral Sclerosis 18 is PFN1 (Profilin 1). 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.

More information from OMIM: 614808 PS105400

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 40)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis type 22 10.0 UBQLN2 PRPH
2 pseudobulbar palsy 10.0 CHMP2B ALS2
3 nominal aphasia 10.0 FUS CHMP2B
4 aphasia 9.9 FUS CHMP2B
5 progressive bulbar palsy 9.9 VAPB FUS ALS2
6 pontocerebellar hypoplasia, type 2e 9.9 CHMP2B ALS2
7 amyotrophic lateral sclerosis 19 9.8 UBQLN2 PRPH ALS2
8 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.8 UBQLN2 FUS CHMP2B
9 perry syndrome 9.8 FUS CHMP2B
10 pick disease of brain 9.8 UBQLN2 FUS CHMP2B
11 amyotrophic lateral sclerosis type 5 9.7 VAPB SETX ALS2
12 frontotemporal dementia 9.7 UBQLN2 PFN1 FUS CHMP2B
13 progressive muscular atrophy 9.6 VAPB UBQLN2 FUS CHMP2B
14 amyotrophic lateral sclerosis 20 9.6 SIGMAR1 PRPH PFN1 ALS2
15 muscular atrophy 9.4 VAPB SIGMAR1 SETX FUS
16 juvenile amyotrophic lateral sclerosis 9.4 SIGMAR1 SETX FUS ALS2
17 spinal muscular atrophy 9.4 VAPB SIGMAR1 SETX FUS
18 hereditary spastic paraplegia 9.3 UBQLN2 SETX ALS2
19 amyotrophic lateral sclerosis 7 9.3 SETX PRPH CHMP2B ALS2
20 spinocerebellar ataxia 2 9.2 VAPB UBQLN2 SETX FUS ALS2
21 spastic paraplegia 64, autosomal recessive 9.2 UBQLN2 SIGMAR1 SETX FUS ALS2
22 dystonia 9.1 SETX FUS CHMP2B ALS2
23 hemochromatosis, type 1 9.0 VAPB SETX FUS FIG4 ALS2
24 motor neuron disease 8.9 VAPB SIGMAR1 SETX PFN1 FUS ALS2
25 charcot-marie-tooth disease 8.9 VAPB SETX PRPH FIG4 ALS2
26 amyotrophic lateral sclerosis 4, juvenile 8.9 VAPB UBQLN2 SETX FUS FIG4 ALS2
27 amyotrophic lateral sclerosis 21 8.8 VAPB SIGMAR1 SETX PRPH FUS ALS2
28 amyotrophic lateral sclerosis 16, juvenile 8.7 VAPB UBQLN2 SIGMAR1 SETX FUS CHMP2B
29 amyotrophic lateral sclerosis type 6 8.6 VAPB UBQLN2 SIGMAR1 SETX FUS FIG4
30 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 8.6 VAPB UBQLN2 SIGMAR1 SETX FUS FIG4
31 amyotrophic lateral sclerosis 9 8.6 VAPB UBQLN2 SIGMAR1 SETX FUS FIG4
32 amyotrophic lateral sclerosis 12 8.5 VAPB UBQLN2 SETX FUS FIG4 CHMP2B
33 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 8.4 VAPB UBQLN2 SIGMAR1 SETX PFN1 FUS
34 amyotrophic lateral sclerosis type 14 8.2 VAPB UBQLN2 SIGMAR1 SETX PRPH FUS
35 amyotrophic lateral sclerosis 11 8.2 VAPB UBQLN2 SIGMAR1 SETX FUS FIG4
36 amyotrophic lateral sclerosis 8 8.2 VAPB UBQLN2 SIGMAR1 SETX FUS FIG4
37 amyotrophic lateral sclerosis 17 8.2 VAPB UBQLN2 SIGMAR1 SETX PRPH FIG4
38 amyotrophic lateral sclerosis type 15 7.9 VAPB UBQLN2 SLC25A22 SIGMAR1 SETX PRPH
39 lateral sclerosis 7.7 VAPB UBQLN2 SIGMAR1 SETX PRPH PFN1
40 amyotrophic lateral sclerosis 1 7.0 VAPB UBQLN2 SLC25A22 SIGMAR1 SETX PRPH

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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 dysarthria 31 HP:0001260
3 dysphagia 31 HP:0002015
4 muscle weakness 31 HP:0001324
5 skeletal muscle atrophy 31 HP:0003202
6 amyotrophic lateral sclerosis 31 HP:0007354
7 fasciculations 31 HP:0002380

Clinical features from OMIM:

614808

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 18

Search Clinical Trials , 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:

40
Brain, Spinal Cord, Skeletal Muscle, Retina, Bone

Publications for Amyotrophic Lateral Sclerosis 18

Articles related to Amyotrophic Lateral Sclerosis 18:

# Title Authors PMID Year
1
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. 56 6
22801503 2012
2
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 6
21914052 2012
3
Amyotrophic Lateral Sclerosis Overview 6
20301623 2001
4
Familial Amyotrophic Lateral Sclerosis-linked Mutations in Profilin 1 Exacerbate TDP-43-induced Degeneration in the Retina of Drosophila melanogaster through an Increase in the Cytoplasmic Localization of TDP-43. 61
27634045 2016
5
PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis. 61
25249294 2014
6
135th ENMC International Workshop: nutrition in amyotrophic lateral sclerosis 18-20 of March 2005, Naarden, The Netherlands. 61
16701996 2006
7
Humoral immunity against glutamic acid decarboxylase and tyrosine phosphatase IA-2 in Lambert-Eaton myasthenic syndrome. 61
10939716 2000

Variations for Amyotrophic Lateral Sclerosis 18

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 18:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PFN1 NM_005022.3(PFN1):c.211T>G (p.Cys71Gly)SNV Pathogenic 37034 rs387907264 17:4850037-4850037 17:4946742-4946742
2 PFN1 NM_005022.3(PFN1):c.341T>C (p.Met114Thr)SNV Pathogenic 37035 rs387907265 17:4849277-4849277 17:4945982-4945982
3 PFN1 NM_005022.3(PFN1):c.353G>T (p.Gly118Val)SNV Pathogenic 37036 rs387907266 17:4849265-4849265 17:4945970-4945970
4 PFN1 NM_005022.3(PFN1):c.350A>G (p.Glu117Gly)SNV Pathogenic 37037 rs140547520 17:4849268-4849268 17:4945973-4945973

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

73
# 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

Expression for Amyotrophic Lateral Sclerosis 18

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

Pathways for Amyotrophic Lateral Sclerosis 18

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 postsynaptic density GO:0014069 9.13 SIGMAR1 CHMP2B ALS2
2 growth cone GO:0030426 8.8 SIGMAR1 SETX ALS2

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

# Name GO ID Score Top Affiliating Genes
1 endosome organization GO:0007032 8.62 CHMP2B ALS2

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

# Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 8.8 VAPB PFN1 CHMP2B

Sources for Amyotrophic Lateral Sclerosis 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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