ALS5
MCID: AMY094
MIFTS: 29

Amyotrophic Lateral Sclerosis 5, Juvenile (ALS5)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 5, Juvenile

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 5, Juvenile:

Name: Amyotrophic Lateral Sclerosis 5, Juvenile 56 73
Als5 56 73
Amyotrophic Lateral Sclerosis 5 71

Characteristics:

OMIM:

56
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 56 602099
OMIM Phenotypic Series 56 PS105400
MeSH 43 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 amyotrophic lateral sclerosis 4, juvenile, 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 brain, spinal cord and tongue, and related phenotypes are spasticity and respiratory insufficiency due to muscle weakness

OMIM : 56 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)

Related Diseases for Amyotrophic Lateral Sclerosis 5, Juvenile

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 respiratory insufficiency due to muscle weakness 31 HP:0002747
3 hyperreflexia 31 HP:0001347
4 bulbar signs 31 HP:0002483
5 dysarthria 31 HP:0001260
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 amyotrophic lateral sclerosis 31 HP:0007354
11 abnormal lower motor neuron morphology 31 HP:0002366

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
spasticity
hyperreflexia
bulbar signs
dysarthria
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

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
Brain, Spinal Cord, Tongue, Endothelial

Publications for Amyotrophic Lateral Sclerosis 5, Juvenile

Articles related to Amyotrophic Lateral Sclerosis 5, Juvenile:

(show all 39)
# Title Authors PMID Year
1
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. 6 56
20110243 2010
2
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 6 61
26556829 2016
3
Genomic organization of Tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and Tropomodulin 4. 56 61
11716785 2001
4
Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. 61 56
9933301 1998
5
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 6
21914052 2012
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
Amyotrophic Lateral Sclerosis Overview 6
20301623 2001
11
Fluidic Force Microscopy Demonstrates That Homophilic Adhesion by Candida albicans Als Proteins Is Mediated by Amyloid Bonds between Cells. 61
31038969 2019
12
Protective effect of inactivated blastoconidia in keratinocytes and human reconstituted epithelium against C. albicans infection. 61
30169683 2019
13
New N-(oxazolylmethyl)-thiazolidinedione Active against Candida albicans Biofilm: Potential Als Proteins Inhibitors. 61
30279343 2018
14
The Anti-Adhesive Effect of Curcumin on Candida albicans Biofilms on Denture Materials. 61
28473808 2017
15
Force Sensitivity in Saccharomyces cerevisiae Flocculins. 61
27547825 2016
16
Novel application assigned to toluquinol: inhibition of lymphangiogenesis by interfering with VEGF-C/VEGFR-3 signalling pathway. 61
27018653 2016
17
GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model. 61
26971897 2016
18
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
19
Low-pH and aluminum resistance in arabidopsis correlates with high cytosolic magnesium content and increased magnesium uptake by plant roots. 61
23620479 2013
20
Frequency and expression of ALS and HWP1 genotypes in Candida albicans strains isolated from Mexican patients suffering from vaginal candidosis. 61
22429754 2012
21
The GPI anchor signal sequence dictates the folding and functionality of the Als5 adhesin from Candida albicans. 61
22509405 2012
22
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
23
[Gene mutations in familial amyotrophic lateral sclerosis]. 61
21301041 2011
24
Aluminium-induced ion transport in Arabidopsis: the relationship between Al tolerance and root ion flux. 61
20497972 2010
25
the hyphal-associated adhesin and invasin Als3 of Candida albicans mediates iron acquisition from host ferritin. 61
19023418 2008
26
Analysis of ALS5 and ALS6 allelic variability in a geographically diverse collection of Candida albicans isolates. 61
17625934 2007
27
Deletion of ALS5, ALS6 or ALS7 increases adhesion of Candida albicans to human vascular endothelial and buccal epithelial cells. 61
17654269 2007
28
Chapter 15 Juvenile amyotrophic lateral sclerosis. 61
18808900 2007
29
Threonine-rich repeats increase fibronectin binding in the Candida albicans adhesin Als5p. 61
16936142 2006
30
Gene transcription studies of Candida albicans following infection of HEp2 epithelial cells. 61
16772226 2006
31
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
32
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
33
Comparison between Candida albicans agglutinin-like sequence gene expression patterns in human clinical specimens and models of vaginal candidiasis. 61
15731066 2005
34
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
35
Allelic variation in the contiguous loci encoding Candida albicans ALS5, ALS1 and ALS9. 61
14523127 2003
36
Candida albicans and Saccharomyces cerevisiae expressing ALA1/ALS5 adhere to accessible threonine, serine, or alanine patches. 61
12200964 2002
37
The ALS5 gene of Candida albicans and analysis of the Als5p N-terminal domain. 61
11124701 2001
38
Sequencing, expression analysis, and mapping of three unique human tropomodulin genes and their mouse orthologs. 61
10662549 2000
39
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.1085G>A (p.Trp362Ter)SNV Pathogenic 488833 rs140385286 15:44944060-44944060 15:44651862-44651862
2 SPG11 NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter)SNV Pathogenic 561117 rs368276916 15:44881468-44881468 15:44589270-44589270
3 SPG11 NM_025137.4(SPG11):c.2250del (p.Phe750fs)deletion Pathogenic 873263 15:44914992-44914992 15:44622794-44622794
4 SPG11 NM_025137.4(SPG11):c.1432C>T (p.Gln478Ter)SNV Pathogenic 873227 15:44943713-44943713 15:44651515-44651515
5 SPG11 NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)SNV Pathogenic 1111 rs267607084 15:44955728-44955728 15:44663530-44663530
6 SPG11 NM_025137.4(SPG11):c.733_734del (p.Met245fs)deletion Pathogenic 1112 rs312262720 15:44949428-44949429 15:44657230-44657231
7 SPG11 NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter)SNV Pathogenic 41287 rs312262739 15:44918575-44918575 15:44626377-44626377
8 SPG11 NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)SNV Pathogenic 41294 rs312262709 15:44952805-44952805 15:44660607-44660607
9 SPG11 NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)SNV Pathogenic 41333 rs200793464 15:44867132-44867132 15:44574934-44574934
10 SPG11 NM_025137.4(SPG11):c.7029dup (p.Val2344fs)duplication Pathogenic 41358 rs312262788 15:44856866-44856867 15:44564668-44564669
11 SPG11 NM_025137.4(SPG11):c.1966_1967del (p.Lys656fs)deletion Likely pathogenic 873262 15:44920967-44920968 15:44628769-44628770
12 SPG11 NM_025137.4(SPG11):c.5199del (p.Lys1733fs)deletion Likely pathogenic 804472 15:44876679-44876679 15:44584481-44584481
13 SPG11 NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)SNV Conflicting interpretations of pathogenicity 378638 rs778305085 15:44855496-44855496 15:44563298-44563298
14 SPG11 NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)SNV Uncertain significance 571323 rs752401008 15:44876407-44876407 15:44584209-44584209
15 SPG11 NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg)SNV Uncertain significance 560924 rs371334506 15:44858152-44858152 15:44565954-44565954
16 SPG11 NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)SNV Uncertain significance 406532 rs201082396 15:44900670-44900670 15:44608472-44608472
17 SPG11 NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys)SNV Uncertain significance 466559 rs374057859 15:44859751-44859751 15:44567553-44567553
18 SPG11 NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn)SNV Uncertain significance 466550 rs771242219 15:44865907-44865907 15:44573709-44573709
19 SPG11 NM_025137.4(SPG11):c.604A>G (p.Met202Val)SNV Uncertain significance 316113 rs201875705 15:44951340-44951340 15:44659142-44659142

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

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