ALS5
MCID: AMY022
MIFTS: 23

Amyotrophic Lateral Sclerosis Type 5 (ALS5)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis Type 5

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis Type 5:

Name: Amyotrophic Lateral Sclerosis Type 5 12 54 30 6 15
Amyotrophic Lateral Sclerosis 5 12 54 74
Als5 12 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0060197
UMLS 74 C1865864

Summaries for Amyotrophic Lateral Sclerosis Type 5

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the SPG11 gene on chromosome 15q21.

MalaCards based summary : Amyotrophic Lateral Sclerosis Type 5, also known as amyotrophic lateral sclerosis 5, is related to juvenile amyotrophic lateral sclerosis and amyotrophic lateral sclerosis 5, juvenile, and has symptoms including abnormal pyramidal signs, muscular fasciculation and muscle spasticity. An important gene associated with Amyotrophic Lateral Sclerosis Type 5 is SPG11 (SPG11 Vesicle Trafficking Associated, Spatacsin). Related phenotype is Increased cell number in S.

Related Diseases for Amyotrophic Lateral Sclerosis Type 5

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 Type 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 juvenile amyotrophic lateral sclerosis 31.7 ALS2 SPG11
2 amyotrophic lateral sclerosis 5, juvenile 12.0
3 perrault syndrome 1 11.2
4 amyotrophic lateral sclerosis 4, juvenile 11.1
5 lateral sclerosis 10.2 ALS2 SPG11
6 spastic paraplegia 57, autosomal recessive 10.1 ALS2 SPG11
7 paraplegia 10.0 SPG11 SPG21
8 spastic paraplegia 32, autosomal recessive 9.9 SPG11 SPG21
9 spastic paraplegia 48, autosomal recessive 9.9 SPG11 SPG21
10 mast syndrome 9.9 SPG11 SPG21
11 spastic paraplegia 15, autosomal recessive 9.9 SPG11 SPG21
12 spastic paraplegia 35, autosomal recessive 9.8 SPG11 SPG21
13 spastic paraplegia 11, autosomal recessive 9.8 SPG11 SPG21
14 axonal neuropathy 9.8 SPG11 TRIM2
15 charcot-marie-tooth disease type 2a2 9.7 COX6A1 DNAJB2 TRIM2
16 spastic paraplegia 46, autosomal recessive 9.6 COX6A1 SPG11 SPG21
17 hereditary spastic paraplegia 9.6 ALS2 SPG11 SPG21
18 amyotrophic lateral sclerosis 1 9.6 ALS2 DNAJB2 SPG11
19 charcot-marie-tooth disease 9.5 COX6A1 DNAJB2 SPG11 TRIM2
20 charcot-marie-tooth disease intermediate type 9.2 COX6A1 DNAJB2 SPG21 TRIM2
21 charcot-marie-tooth disease, axonal, type 2b1 9.2 COX6A1 DNAJB2 SPG21 TRIM2
22 charcot-marie-tooth disease, axonal, type 2b2 9.2 COX6A1 DNAJB2 SPG21 TRIM2
23 charcot-marie-tooth disease, axonal, type 2h 9.0 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
24 charcot-marie-tooth disease, recessive intermediate d 9.0 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
25 spastic paraplegia 55, autosomal recessive 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
26 charcot-marie-tooth disease, axonal, type 2r 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
27 charcot-marie-tooth disease, axonal, type 2p 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
28 charcot-marie-tooth disease, axonal, type 2t 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
29 charcot-marie-tooth disease, axonal, type 2e 8.7 C12orf65 COX6A1 DNAJB2 SPG11 SPG21 TRIM2

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis Type 5:



Diseases related to Amyotrophic Lateral Sclerosis Type 5

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis Type 5

UMLS symptoms related to Amyotrophic Lateral Sclerosis Type 5:


abnormal pyramidal signs, muscular fasciculation, muscle spasticity, upper motor neuron signs

GenomeRNAi Phenotypes related to Amyotrophic Lateral Sclerosis Type 5 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell number in S GR00096-A 8.8 ALS2 COX6A1 DNAJB2

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis Type 5

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis Type 5

Genetic Tests for Amyotrophic Lateral Sclerosis Type 5

Genetic tests related to Amyotrophic Lateral Sclerosis Type 5:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 5 30 SPG11

Anatomical Context for Amyotrophic Lateral Sclerosis Type 5

Publications for Amyotrophic Lateral Sclerosis Type 5

Variations for Amyotrophic Lateral Sclerosis Type 5

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis Type 5:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPG11 NM_025137.3(SPG11): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs267607084 GRCh37 Chromosome 15, 44955728: 44955728
2 SPG11 NM_025137.3(SPG11): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs267607084 GRCh38 Chromosome 15, 44663530: 44663530
3 SPG11 NM_025137.3(SPG11): c.733_734delAT (p.Met245Valfs) deletion Pathogenic rs312262720 GRCh37 Chromosome 15, 44949428: 44949429
4 SPG11 NM_025137.3(SPG11): c.733_734delAT (p.Met245Valfs) deletion Pathogenic rs312262720 GRCh38 Chromosome 15, 44657230: 44657231
5 SPG11 NM_025137.3(SPG11): c.2198T> G (p.Leu733Ter) single nucleotide variant Pathogenic rs312262739 GRCh37 Chromosome 15, 44918575: 44918575
6 SPG11 NM_025137.3(SPG11): c.2198T> G (p.Leu733Ter) single nucleotide variant Pathogenic rs312262739 GRCh38 Chromosome 15, 44626377: 44626377
7 SPG11 NM_025137.3(SPG11): c.267G> A (p.Trp89Ter) single nucleotide variant Pathogenic rs312262709 GRCh37 Chromosome 15, 44952805: 44952805
8 SPG11 NM_025137.3(SPG11): c.267G> A (p.Trp89Ter) single nucleotide variant Pathogenic rs312262709 GRCh38 Chromosome 15, 44660607: 44660607
9 SPG11 NM_025137.3(SPG11): c.5974C> T (p.Arg1992Ter) single nucleotide variant Pathogenic rs200793464 GRCh37 Chromosome 15, 44867132: 44867132
10 SPG11 NM_025137.3(SPG11): c.5974C> T (p.Arg1992Ter) single nucleotide variant Pathogenic rs200793464 GRCh38 Chromosome 15, 44574934: 44574934
11 SPG11 NM_025137.3(SPG11): c.7029dupT (p.Val2344Cysfs) duplication Pathogenic rs312262788 GRCh37 Chromosome 15, 44856867: 44856867
12 SPG11 NM_025137.3(SPG11): c.7029dupT (p.Val2344Cysfs) duplication Pathogenic rs312262788 GRCh38 Chromosome 15, 44564669: 44564669
13 SPG11 NM_025137.3(SPG11): c.6899T> G (p.Leu2300Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 44858152: 44858152
14 SPG11 NM_025137.3(SPG11): c.6899T> G (p.Leu2300Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 44565954: 44565954
15 SPG11 NM_025137.3(SPG11): c.4888G> T (p.Glu1630Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 44881468: 44881468
16 SPG11 NM_025137.3(SPG11): c.4888G> T (p.Glu1630Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 44589270: 44589270

Expression for Amyotrophic Lateral Sclerosis Type 5

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis Type 5.

Pathways for Amyotrophic Lateral Sclerosis Type 5

GO Terms for Amyotrophic Lateral Sclerosis Type 5

Sources for Amyotrophic Lateral Sclerosis Type 5

3 CDC
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10 dbSNP
11 DGIdb
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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