ALS5
MCID: AMY022
MIFTS: 34

Amyotrophic Lateral Sclerosis Type 5 (ALS5)

Categories: Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare 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 20 29 6 15
Amyotrophic Lateral Sclerosis 5 12 20 70
Als5 12 20

Classifications:



External Ids:

Disease Ontology 12 DOID:0060197
UMLS 70 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 spastic paraplegia 55, autosomal recessive, and has symptoms including muscular fasciculation, muscle spasticity and abnormal pyramidal signs. An important gene associated with Amyotrophic Lateral Sclerosis Type 5 is SPG11 (SPG11 Vesicle Trafficking Associated, Spatacsin). Affiliated tissues include spinal cord, and related phenotypes are growth/size/body region and cellular

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 16, Juvenile 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 12
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 top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 juvenile amyotrophic lateral sclerosis 31.8 SPG11 SETX ALS2
2 spastic paraplegia 55, autosomal recessive 30.1 ZFYVE26 SPG11
3 axonal neuropathy 30.0 ZFYVE26 SPG11 SETX
4 spastic paraplegia 7, autosomal recessive 30.0 SPG11 SETX
5 spastic paraplegia 11, autosomal recessive 29.9 ZFYVE26 SPG11 AP5Z1
6 spastic paraplegia 46, autosomal recessive 29.9 ZFYVE26 SPG11 AP5Z1
7 spastic paraplegia 15, autosomal recessive 29.9 ZFYVE26 SPG11 AP5Z1
8 spastic paraplegia 56, autosomal recessive 29.9 ZFYVE26 SPG11 AP5Z1
9 charcot-marie-tooth disease, axonal, type 2e 29.7 ZFYVE26 SPG11 SOD1 ALS2
10 amyotrophic lateral sclerosis 7 29.5 SUGCT SPG11 SETX ANG ALS2
11 lateral sclerosis 29.3 VAPB SPG11 SOD1 SETX ANG ALS2
12 hereditary spastic paraplegia 28.9 ZFYVE26 SPG11 SETX FN1 AP5Z1 ALS2
13 amyotrophic lateral sclerosis 1 26.8 VAPB TMOD2 SUGCT SPG11 SOD1 SETX
14 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 11.7
15 amyotrophic lateral sclerosis 5, juvenile 11.4
16 hereditary spastic paraplegia 23 10.3 ZFYVE26 SPG11
17 spinal muscular atrophy with lower extremity predominance 10.3 VAPB SETX
18 spastic paraplegia 57, autosomal recessive 10.3 SPG11 ALS2
19 spastic paraplegia 64, autosomal recessive 10.3 ZFYVE26 SPG11
20 amyotrophic lateral sclerosis 19 10.3 SOD1 ALS2
21 amyotrophic lateral sclerosis 20 10.3 SOD1 ALS2
22 spastic paraplegia 49, autosomal recessive 10.3 ZFYVE26 SPG11
23 spastic paraplegia 5a, autosomal recessive 10.3 ZFYVE26 SPG11
24 amyotrophic lateral sclerosis 18 10.3 VAPB SETX ALS2
25 amyotrophic lateral sclerosis 21 10.2 VAPB SETX ALS2
26 hereditary spastic paraplegia 30 10.2 SPG11 AP5Z1
27 proximal spinal muscular atrophy 10.2 VAPB SETX
28 motor peripheral neuropathy 10.2 ZFYVE26 SPG11 SETX
29 alzheimer disease 7 10.2 VAPB SOD1
30 nescav syndrome 10.2 ZFYVE26 AP5Z1
31 spastic paraplegia 44, autosomal recessive 10.2 SPG11 AP5Z1
32 amyotrophic lateral sclerosis type 15 10.2 VAPB SPG11 SETX ALS2
33 amyotrophic lateral sclerosis type 14 10.2 VAPB SPG11 SETX ALS2
34 amyotrophic lateral sclerosis 11 10.1 VAPB SPG11 SETX ALS2
35 amyotrophic lateral sclerosis 16, juvenile 10.1 VAPB SPG11 SETX ALS2
36 hereditary spastic paraplegia 72 10.1 ZFYVE26 SPG11 AP5Z1
37 cardiomyopathy, familial hypertrophic, 3 10.1 TMOD4 TMOD2
38 hereditary spastic paraplegia 51 10.1 ZFYVE26 SPG11 AP5Z1
39 spastic paraplegia 52, autosomal recessive 10.1 ZFYVE26 SPG11 AP5Z1
40 spastic paraplegia 50, autosomal recessive 10.1 ZFYVE26 SPG11 AP5Z1
41 spastic paraplegia 61, autosomal recessive 10.1 ZFYVE26 SPG11 AP5Z1
42 spastic paraplegia 33, autosomal dominant 10.1 ZFYVE26 SPG11 AP5Z1
43 spastic paraplegia 18, autosomal recessive 10.1 ZFYVE26 SPG11 AP5Z1
44 spastic paraplegia 48, autosomal recessive 10.1 ZFYVE26 SPG11 AP5Z1
45 spastic paraplegia 12, autosomal dominant 10.1 ZFYVE26 SPG11 AP5Z1
46 spastic paraplegia 28, autosomal recessive 10.1 SPG11 AP5Z1
47 spastic paraplegia 39, autosomal recessive 10.1 ZFYVE26 SPG11 AP5Z1
48 spastic paraplegia 6, autosomal dominant 10.1 ZFYVE26 SPG11 AP5Z1
49 spastic paraplegia 31, autosomal dominant 10.1 ZFYVE26 SPG11 AP5Z1
50 spastic paraplegia 47, autosomal recessive 10.1 ZFYVE26 SPG11 AP5Z1

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:


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

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis Type 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.15 ALS2 AP5Z1 ECE1 FN1 MED31 SERTAD3
2 cellular MP:0005384 10.1 ANG AP5Z1 FN1 MED31 SETX SOD1
3 homeostasis/metabolism MP:0005376 10.03 ALS2 ANG AP5Z1 ECE1 FN1 GFM1
4 hematopoietic system MP:0005397 10.02 ANG ECE1 FN1 GFM1 SERTAD3 SETX
5 immune system MP:0005387 9.85 ALS2 ANG ECE1 FN1 GFM1 SERTAD3
6 muscle MP:0005369 9.5 ALS2 ECE1 FN1 SOD1 VAPB VWA1
7 nervous system MP:0003631 9.44 ALS2 AP5Z1 ECE1 FN1 MED31 SERTAD3

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 29 SPG11

Anatomical Context for Amyotrophic Lateral Sclerosis Type 5

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis Type 5:

40
Spinal Cord

Publications for Amyotrophic Lateral Sclerosis Type 5

Articles related to Amyotrophic Lateral Sclerosis Type 5:

(show all 16)
# Title Authors PMID Year
1
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes. 6
29691679 2018
2
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 6
26556829 2016
3
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
4
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. 6
20110243 2010
5
Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum. 6
18408091 2008
6
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. 6
18332254 2008
7
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. 6
18067136 2007
8
SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation. 6
17717710 2007
9
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. 6
17322883 2007
10
Pharyngeal residue in neurogenic oropharyngeal dysphagia. 61
31618343 2019
11
[Histopathological and immunohistochemical study of spinal cord tissues in neurodegenerative diseases]. 61
26705184 2015
12
Calmodulin levels in blood cells as a potential biomarker of Alzheimer's disease. 61
24499616 2013
13
Genomic organization of Tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and Tropomodulin 4. 61
11716785 2001
14
Sequencing, expression analysis, and mapping of three unique human tropomodulin genes and their mouse orthologs. 61
10662549 2000
15
Inheritance of frontotemporal dementia. 61
10404983 1999
16
Shy-Drager syndrome and amyotrophic lateral sclerosis. Cytoarchitectonic and morphometric studies of sacral autonomic neurons. 61
3701375 1986

Variations for Amyotrophic Lateral Sclerosis Type 5

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis Type 5:

6 (show all 34)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPG11 NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter) SNV Pathogenic 41287 rs312262739 GRCh37: 15:44918575-44918575
GRCh38: 15:44626377-44626377
2 SPG11 NM_025137.4(SPG11):c.118C>T (p.Gln40Ter) SNV Pathogenic 1111 rs267607084 GRCh37: 15:44955728-44955728
GRCh38: 15:44663530-44663530
3 SPG11 NM_025137.4(SPG11):c.733_734del (p.Met245fs) Deletion Pathogenic 1112 rs312262720 GRCh37: 15:44949428-44949429
GRCh38: 15:44657230-44657231
4 SPG11 NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter) SNV Pathogenic 41333 rs200793464 GRCh37: 15:44867132-44867132
GRCh38: 15:44574934-44574934
5 SPG11 NM_025137.4(SPG11):c.267G>A (p.Trp89Ter) SNV Pathogenic 41294 rs312262709 GRCh37: 15:44952805-44952805
GRCh38: 15:44660607-44660607
6 SPG11 NM_025137.4(SPG11):c.7029dup (p.Val2344fs) Duplication Pathogenic 41358 rs312262788 GRCh37: 15:44856866-44856867
GRCh38: 15:44564668-44564669
7 SPG11 NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter) SNV Pathogenic 561117 rs368276916 GRCh37: 15:44881468-44881468
GRCh38: 15:44589270-44589270
8 SPG11 NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) SNV Pathogenic 488833 rs140385286 GRCh37: 15:44944060-44944060
GRCh38: 15:44651862-44651862
9 SPG11 NM_025137.4(SPG11):c.2250del (p.Phe750fs) Deletion Pathogenic 873263 GRCh37: 15:44914992-44914992
GRCh38: 15:44622794-44622794
10 SPG11 NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter) SNV Pathogenic 378638 rs778305085 GRCh37: 15:44855496-44855496
GRCh38: 15:44563298-44563298
11 SPG11 NM_025137.4(SPG11):c.7255_7256dup (p.Phe2420fs) Duplication Pathogenic 546750 rs532737377 GRCh37: 15:44855394-44855395
GRCh38: 15:44563196-44563197
12 SPG11 NM_025137.4(SPG11):c.5626G>T (p.Glu1876Ter) SNV Pathogenic 997574 GRCh37: 15:44876252-44876252
GRCh38: 15:44584054-44584054
13 SPG11 NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter) SNV Pathogenic 41324 rs312262767 GRCh37: 15:44876408-44876408
GRCh38: 15:44584210-44584210
14 SPG11 NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter) SNV Pathogenic 41340 rs147713329 GRCh37: 15:44865859-44865859
GRCh38: 15:44573661-44573661
15 SPG11 NM_025137.4(SPG11):c.1432C>T (p.Gln478Ter) SNV Pathogenic 873227 GRCh37: 15:44943713-44943713
GRCh38: 15:44651515-44651515
16 SPG11 NM_025137.4(SPG11):c.2316+1G>A SNV Pathogenic 41288 rs312262740 GRCh37: 15:44914925-44914925
GRCh38: 15:44622727-44622727
17 SPG11 NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) SNV Pathogenic 620391 rs769898852 GRCh37: 15:44862791-44862791
GRCh38: 15:44570593-44570593
18 SPG11 NM_025137.4(SPG11):c.5199del (p.Lys1733fs) Deletion Likely pathogenic 804472 rs779268551 GRCh37: 15:44876679-44876679
GRCh38: 15:44584481-44584481
19 SPG11 NM_025137.4(SPG11):c.1966_1967del (p.Lys656fs) Deletion Likely pathogenic 873262 GRCh37: 15:44920967-44920968
GRCh38: 15:44628769-44628770
20 SPG11 NM_025137.4(SPG11):c.2897G>A (p.Arg966His) SNV Uncertain significance 534861 rs200281262 GRCh37: 15:44907702-44907702
GRCh38: 15:44615504-44615504
21 SPG11 NM_025137.4(SPG11):c.6952C>T (p.Arg2318Cys) SNV Uncertain significance 534865 rs377341108 GRCh37: 15:44858099-44858099
GRCh38: 15:44565901-44565901
22 SPG11 NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu) SNV Uncertain significance 216774 rs150571352 GRCh37: 15:44856764-44856764
GRCh38: 15:44564566-44564566
23 SPG11 NM_025137.4(SPG11):c.16G>A (p.Gly6Arg) SNV Uncertain significance 216771 rs200573434 GRCh37: 15:44955830-44955830
GRCh38: 15:44663632-44663632
24 SPG11 NM_025137.4(SPG11):c.6468T>C (p.Tyr2156=) SNV Uncertain significance 1034089 GRCh37: 15:44862732-44862732
GRCh38: 15:44570534-44570534
25 SPG11 NM_025137.4(SPG11):c.250T>C (p.Phe84Leu) SNV Uncertain significance 1029951 GRCh37: 15:44955596-44955596
GRCh38: 15:44663398-44663398
26 SPG11 NM_025137.4(SPG11):c.3989A>G (p.Gln1330Arg) SNV Uncertain significance 1029952 GRCh37: 15:44890475-44890475
GRCh38: 15:44598277-44598277
27 SPG11 NM_025137.4(SPG11):c.5059G>A (p.Ala1687Thr) SNV Uncertain significance 219558 rs779161014 GRCh37: 15:44877896-44877896
GRCh38: 15:44585698-44585698
28 SPG11 NM_025137.4(SPG11):c.5966A>G (p.Asn1989Ser) SNV Uncertain significance 534876 rs375896392 GRCh37: 15:44867140-44867140
GRCh38: 15:44574942-44574942
29 SPG11 NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) SNV Uncertain significance 466559 rs374057859 GRCh37: 15:44859751-44859751
GRCh38: 15:44567553-44567553
30 SPG11 NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn) SNV Uncertain significance 466550 rs771242219 GRCh37: 15:44865907-44865907
GRCh38: 15:44573709-44573709
31 SPG11 NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln) SNV Uncertain significance 571323 rs752401008 GRCh37: 15:44876407-44876407
GRCh38: 15:44584209-44584209
32 SPG11 NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys) SNV Uncertain significance 406532 rs201082396 GRCh37: 15:44900670-44900670
GRCh38: 15:44608472-44608472
33 SPG11 NM_025137.4(SPG11):c.604A>G (p.Met202Val) SNV Uncertain significance 316113 rs201875705 GRCh37: 15:44951340-44951340
GRCh38: 15:44659142-44659142
34 SPG11 NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg) SNV Uncertain significance 560924 rs371334506 GRCh37: 15:44858152-44858152
GRCh38: 15:44565954-44565954

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

Cellular components related to Amyotrophic Lateral Sclerosis Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 9.33 VWA1 FN1 ANG
2 striated muscle thin filament GO:0005865 8.96 TMOD4 TMOD2
3 growth cone GO:0030426 8.92 TMOD2 SETX ANG ALS2

Biological processes related to Amyotrophic Lateral Sclerosis Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myofibril assembly GO:0030239 8.96 TMOD4 TMOD2
2 pointed-end actin filament capping GO:0051694 8.62 TMOD4 TMOD2

Molecular functions related to Amyotrophic Lateral Sclerosis Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 ZNF106 ZFYVE26 VWA1 VAPB TMOD4 TMOD2
2 tropomyosin binding GO:0005523 8.62 TMOD4 TMOD2

Sources for Amyotrophic Lateral Sclerosis Type 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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