ALS5
MCID: AMY094
MIFTS: 31

Amyotrophic Lateral Sclerosis 5, Juvenile (ALS5)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 5, Juvenile

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 5, Juvenile:

Name: Amyotrophic Lateral Sclerosis 5, Juvenile 57 73 6
Als5 57 73
Amyotrophic Lateral Sclerosis 5 71

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in first or second decade
some patients may become wheelchair-bound
survival 30 to 40 years after onset


HPO:

31
amyotrophic lateral sclerosis 5, juvenile:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset slow progression


Classifications:



External Ids:

OMIM® 57 602099
OMIM Phenotypic Series 57 PS105400
MeSH 44 D000690
MedGen 41 C1865864
UMLS 71 C1865864

Summaries for Amyotrophic Lateral Sclerosis 5, Juvenile

UniProtKB/Swiss-Prot : 73 Amyotrophic lateral sclerosis 5, juvenile: A form of amyotrophic lateral sclerosis, 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. ALS5 is an autosomal recessive, juvenile form characterized by onset of upper and lower motor neuron signs before age 25.

MalaCards based summary : Amyotrophic Lateral Sclerosis 5, Juvenile, also known as als5, is related to amyotrophic lateral sclerosis type 5 and juvenile amyotrophic lateral sclerosis, and has symptoms including muscular fasciculation, muscle spasticity and abnormal pyramidal signs. An important gene associated with Amyotrophic Lateral Sclerosis 5, Juvenile is SPG11 (SPG11 Vesicle Trafficking Associated, Spatacsin). Affiliated tissues include spinal cord, tongue and endothelial, and related phenotypes are spasticity and hyperreflexia

OMIM® : 57 Autosomal recessive juvenile amyotrophic lateral sclerosis-5 is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400). (602099) (Updated 05-Mar-2021)

Related Diseases for Amyotrophic Lateral Sclerosis 5, Juvenile

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis type 5 11.1
2 juvenile amyotrophic lateral sclerosis 11.0
3 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 10.0
4 amyotrophic lateral sclerosis 7 10.0
5 amyotrophic lateral sclerosis 1 9.8
6 mast syndrome 9.8
7 spastic paraplegia 15, autosomal recessive 9.8
8 spastic paraplegia 11, autosomal recessive 9.8
9 charcot-marie-tooth disease, axonal, type 2b2 9.8
10 spastic paraplegia 7, autosomal recessive 9.8
11 charcot-marie-tooth disease, axonal, type 2e 9.8
12 charcot-marie-tooth disease, axonal, type 2h 9.8
13 charcot-marie-tooth disease, axonal, type 2k 9.8
14 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 9.8
15 spastic paraplegia 46, autosomal recessive 9.8
16 charcot-marie-tooth disease, axonal, type 2p 9.8
17 spastic paraplegia 56, autosomal recessive 9.8
18 spastic paraplegia 55, autosomal recessive 9.8
19 charcot-marie-tooth disease, axonal, type 2r 9.8
20 charcot-marie-tooth disease, recessive intermediate d 9.8
21 charcot-marie-tooth disease, axonal, type 2x 9.8
22 charcot-marie-tooth disease, axonal, type 2t 9.8
23 charcot-marie-tooth disease 9.8
24 tooth disease 9.8
25 lateral sclerosis 9.8
26 hereditary spastic paraplegia 9.8
27 peripheral nervous system disease 9.8
28 paraplegia 9.8
29 axonal neuropathy 9.8
30 neuropathy 9.8
31 mitochondrial disorders 9.8
32 spastic paraplegia 11 9.8
33 spastic paraplegia 15 9.8

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



Diseases related to Amyotrophic Lateral Sclerosis 5, Juvenile

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 5, Juvenile

Human phenotypes related to Amyotrophic Lateral Sclerosis 5, Juvenile:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 hyperreflexia 31 HP:0001347
3 dysarthria 31 HP:0001260
4 respiratory insufficiency due to muscle weakness 31 HP:0002747
5 bulbar signs 31 HP:0002483
6 fasciculations 31 HP:0002380
7 babinski sign 31 HP:0003487
8 distal amyotrophy 31 HP:0003693
9 distal muscle weakness 31 HP:0002460
10 abnormal lower motor neuron morphology 31 HP:0002366
11 amyotrophic lateral sclerosis 31 HP:0007354

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
dysarthria
bulbar signs
upper motor neuron signs
more
Head And Neck Mouth:
tongue weakness
poor palatal elevation

Head And Neck Face:
increased facial reflexes
jaw spasticity
weak masseter muscles

Muscle Soft Tissue:
fasciculations
distal muscle weakness
distal muscle atrophy
fibrillations
chronic neurogenic changes seen on emg

Respiratory:
respiratory failure due to muscle weakness

Neurologic Peripheral Nervous System:
decreased amplitude of compound muscle action potentials

Clinical features from OMIM®:

602099 (Updated 05-Mar-2021)

UMLS symptoms related to Amyotrophic Lateral Sclerosis 5, Juvenile:


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

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 5, Juvenile

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

Genetic Tests for Amyotrophic Lateral Sclerosis 5, Juvenile

Anatomical Context for Amyotrophic Lateral Sclerosis 5, Juvenile

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 5, Juvenile:

40
Spinal Cord, Tongue, Endothelial

Publications for Amyotrophic Lateral Sclerosis 5, Juvenile

Articles related to Amyotrophic Lateral Sclerosis 5, Juvenile:

(show all 37)
# Title Authors PMID Year
1
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. 6 57
20110243 2010
2
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 61 6
26556829 2016
3
Genomic organization of Tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and Tropomodulin 4. 57 61
11716785 2001
4
Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. 61 57
9933301 1998
5
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. 6
18332254 2008
6
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. 6
18067136 2007
7
SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation. 6
17717710 2007
8
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. 6
17322883 2007
9
Fluidic Force Microscopy Demonstrates That Homophilic Adhesion by Candida albicans Als Proteins Is Mediated by Amyloid Bonds between Cells. 61
31038969 2019
10
Protective effect of inactivated blastoconidia in keratinocytes and human reconstituted epithelium against C. albicans infection. 61
30169683 2019
11
New N-(oxazolylmethyl)-thiazolidinedione Active against Candida albicans Biofilm: Potential Als Proteins Inhibitors. 61
30279343 2018
12
The Anti-Adhesive Effect of Curcumin on Candida albicans Biofilms on Denture Materials. 61
28473808 2017
13
Force Sensitivity in Saccharomyces cerevisiae Flocculins. 61
27547825 2016
14
Novel application assigned to toluquinol: inhibition of lymphangiogenesis by interfering with VEGF-C/VEGFR-3 signalling pathway. 61
27018653 2016
15
GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model. 61
26971897 2016
16
A signal with a difference: the role of GPI anchor signal sequence in dictating conformation and function of the Als5 adhesin in candida albicans. 61
25408342 2015
17
Low-pH and aluminum resistance in arabidopsis correlates with high cytosolic magnesium content and increased magnesium uptake by plant roots. 61
23620479 2013
18
Frequency and expression of ALS and HWP1 genotypes in Candida albicans strains isolated from Mexican patients suffering from vaginal candidosis. 61
22429754 2012
19
The GPI anchor signal sequence dictates the folding and functionality of the Als5 adhesin from Candida albicans. 61
22509405 2012
20
ALS51, a newly discovered gene in the Candida albicans ALS family, created by intergenic recombination: analysis of the gene and protein, and implications for evolution of microbial gene families. 61
21208290 2011
21
[Gene mutations in familial amyotrophic lateral sclerosis]. 61
21301041 2011
22
Aluminium-induced ion transport in Arabidopsis: the relationship between Al tolerance and root ion flux. 61
20497972 2010
23
the hyphal-associated adhesin and invasin Als3 of Candida albicans mediates iron acquisition from host ferritin. 61
19023418 2008
24
Analysis of ALS5 and ALS6 allelic variability in a geographically diverse collection of Candida albicans isolates. 61
17625934 2007
25
Deletion of ALS5, ALS6 or ALS7 increases adhesion of Candida albicans to human vascular endothelial and buccal epithelial cells. 61
17654269 2007
26
Chapter 15 Juvenile amyotrophic lateral sclerosis. 61
18808900 2007
27
Threonine-rich repeats increase fibronectin binding in the Candida albicans adhesin Als5p. 61
16936142 2006
28
Gene transcription studies of Candida albicans following infection of HEp2 epithelial cells. 61
16772226 2006
29
RT-PCR analysis of Candida albicans ALS gene expression in a hyposalivatory rat model of oral candidiasis and in HIV-positive human patients. 61
16519012 2006
30
Construction and real-time RT-PCR validation of Candida albicans PALS-GFP reporter strains and their use in flow cytometry analysis of ALS gene expression in budding and filamenting cells. 61
15817774 2005
31
Comparison between Candida albicans agglutinin-like sequence gene expression patterns in human clinical specimens and models of vaginal candidiasis. 61
15731066 2005
32
RT-PCR detection of Candida albicans ALS gene expression in the reconstituted human epithelium (RHE) model of oral candidiasis and in model biofilms. 61
14766904 2004
33
Allelic variation in the contiguous loci encoding Candida albicans ALS5, ALS1 and ALS9. 61
14523127 2003
34
Candida albicans and Saccharomyces cerevisiae expressing ALA1/ALS5 adhere to accessible threonine, serine, or alanine patches. 61
12200964 2002
35
The ALS5 gene of Candida albicans and analysis of the Als5p N-terminal domain. 61
11124701 2001
36
Sequencing, expression analysis, and mapping of three unique human tropomodulin genes and their mouse orthologs. 61
10662549 2000
37
Arabidopsis mutants with increased sensitivity to aluminum. 61
8819866 1996

Variations for Amyotrophic Lateral Sclerosis 5, Juvenile

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 5, Juvenile:

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPG11 NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter) SNV Pathogenic 41287 rs312262739 15:44918575-44918575 15:44626377-44626377
2 SPG11 NM_025137.4(SPG11):c.118C>T (p.Gln40Ter) SNV Pathogenic 1111 rs267607084 15:44955728-44955728 15:44663530-44663530
3 SPG11 NM_025137.4(SPG11):c.733_734del (p.Met245fs) Deletion Pathogenic 1112 rs312262720 15:44949428-44949429 15:44657230-44657231
4 SPG11 NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter) SNV Pathogenic 41333 rs200793464 15:44867132-44867132 15:44574934-44574934
5 SPG11 NM_025137.4(SPG11):c.267G>A (p.Trp89Ter) SNV Pathogenic 41294 rs312262709 15:44952805-44952805 15:44660607-44660607
6 SPG11 NM_025137.4(SPG11):c.7029dup (p.Val2344fs) Duplication Pathogenic 41358 rs312262788 15:44856866-44856867 15:44564668-44564669
7 SPG11 NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter) SNV Pathogenic 561117 rs368276916 15:44881468-44881468 15:44589270-44589270
8 SPG11 NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) SNV Pathogenic 488833 rs140385286 15:44944060-44944060 15:44651862-44651862
9 SPG11 NM_025137.4(SPG11):c.1432C>T (p.Gln478Ter) SNV Pathogenic 873227 15:44943713-44943713 15:44651515-44651515
10 SPG11 NM_025137.4(SPG11):c.2250del (p.Phe750fs) Deletion Pathogenic 873263 15:44914992-44914992 15:44622794-44622794
11 SPG11 NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter) SNV Pathogenic 378638 rs778305085 15:44855496-44855496 15:44563298-44563298
12 SPG11 NM_025137.4(SPG11):c.1966_1967del (p.Lys656fs) Deletion Likely pathogenic 873262 15:44920967-44920968 15:44628769-44628770
13 SPG11 NM_025137.4(SPG11):c.5199del (p.Lys1733fs) Deletion Likely pathogenic 804472 rs779268551 15:44876679-44876679 15:44584481-44584481
14 SPG11 NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) SNV Uncertain significance 466559 rs374057859 15:44859751-44859751 15:44567553-44567553
15 SPG11 NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn) SNV Uncertain significance 466550 rs771242219 15:44865907-44865907 15:44573709-44573709
16 SPG11 NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln) SNV Uncertain significance 571323 rs752401008 15:44876407-44876407 15:44584209-44584209
17 SPG11 NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys) SNV Uncertain significance 406532 rs201082396 15:44900670-44900670 15:44608472-44608472
18 SPG11 NM_025137.4(SPG11):c.604A>G (p.Met202Val) SNV Uncertain significance 316113 rs201875705 15:44951340-44951340 15:44659142-44659142
19 SPG11 NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg) SNV Uncertain significance 560924 rs371334506 15:44858152-44858152 15:44565954-44565954

Expression for Amyotrophic Lateral Sclerosis 5, Juvenile

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

Pathways for Amyotrophic Lateral Sclerosis 5, Juvenile

GO Terms for Amyotrophic Lateral Sclerosis 5, Juvenile

Sources for Amyotrophic Lateral Sclerosis 5, Juvenile

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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