MCID: JVN050
MIFTS: 41

Juvenile Amyotrophic Lateral Sclerosis

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

Aliases & Classifications for Juvenile Amyotrophic Lateral Sclerosis

MalaCards integrated aliases for Juvenile Amyotrophic Lateral Sclerosis:

Name: Juvenile Amyotrophic Lateral Sclerosis 53 59 29
Juvenile Lou Gehrig Disease 53 59
Juvenile Charcot Disease 53 59
Jals 53 59
Amyotrophic Lateral Sclerosis, Juvenile 53

Characteristics:

Orphanet epidemiological data:

59
juvenile amyotrophic lateral sclerosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Childhood; Age of death: adult;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA300605
ICD10 via Orphanet 34 G12.2

Summaries for Juvenile Amyotrophic Lateral Sclerosis

NIH Rare Diseases : 53 Juvenile amyotrophic lateral sclerosis (JALS) is a rare motor neuron disease characterized by progressive degeneration of upper and lower motor neurons. Motor neurons are nerve cells that control voluntary muscle activity. Symptoms of JALS typically begin before age 25, but often in early childhood. Symptoms include facial spasticity, dysarthria, and a spastic gait (manner of walking). Some people have uncontrolled laughter and weeping, mild wasting of the legs and hands, bladder dysfunction, and/or sensory disturbances. The disease is usually slowly progressive but rate of progression varies. People with JALS may become unable to move by age 12 to age 50. JALS includes several subtypes, distinguished by the specific variations (mutations) in any of several genes, including:ALS2 caused by mutations in the ALS2 gene ALS16 caused by mutations in the SIGMAR1 gene ALS5 caused by mutations in the SPG11 gene ALS4 caused by mutation in the SETX gene There are some reports of  JALS caused by mutations in the  UBQLN2 (related to ALS15), FUS (related to ALS6) and TARDBP (related to ALS10) genes. Mutations may be inherited from a parent or may occur for the first time in a person with the disease. Inheritance may be autosomal recessive or autosomal dominant depending on the gene involved. There is no specific treatment for JALS. Management generally involves physical and occupational therapy to promote mobility and independence.

MalaCards based summary : Juvenile Amyotrophic Lateral Sclerosis, also known as juvenile lou gehrig disease, is related to amyotrophic lateral sclerosis 16, juvenile and amyotrophic lateral sclerosis 2, juvenile. An important gene associated with Juvenile Amyotrophic Lateral Sclerosis is SIGMAR1 (Sigma Non-Opioid Intracellular Receptor 1), and among its related pathways/superpathways are Apoptosis and survival Caspase cascade and TNF signaling pathway. Affiliated tissues include brain, and related phenotypes are abnormality of the bladder and sensory neuropathy

Related Diseases for Juvenile Amyotrophic Lateral Sclerosis

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 Juvenile Amyotrophic Lateral Sclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 16, juvenile 33.5 ALS2 SIGMAR1
2 amyotrophic lateral sclerosis 2, juvenile 32.8 ALS2 TRAK2
3 amyotrophic lateral sclerosis 4, juvenile 32.5 ALS2 SETX UPF1
4 lateral sclerosis 30.9 ALS2 FUS SETX SIGMAR1 SPG11
5 amyotrophic lateral sclerosis 1 30.8 ALS2 FUS SETX SIGMAR1 SPG11
6 motor neuron disease 30.2 ALS2 FUS SETX SIGMAR1
7 amyotrophic lateral sclerosis, juvenile, with dementia 11.8
8 distal hereditary motor neuropathies 10.6 IGHMBP2 SETX
9 spastic paraplegia 57, autosomal recessive 10.5 ALS2 SPG11
10 amyotrophic lateral sclerosis type 6 10.5 ALS2 FUS SETX
11 amyotrophic lateral sclerosis 11 10.5 ALS2 FUS SETX
12 amyotrophic lateral sclerosis type 5 10.5 ALS2 SPG11
13 amyotrophic lateral sclerosis 7 10.5 ALS2 FUS SETX
14 amyotrophic lateral sclerosis 9 10.5 ALS2 FUS SETX
15 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 10.5 ALS2 FUS SETX
16 amyotrophic lateral sclerosis 21 10.3 FUS SETX
17 parkinson disease 15, autosomal recessive early-onset 10.2 C19orf12 SPG11
18 arteriosclerosis 10.1
19 dystonia 10.1
20 alopecia 9.9
21 spinal muscular atrophy, type i 9.9
22 neurodegeneration with brain iron accumulation 9.9
23 neuronitis 9.9
24 hereditary spastic paraplegia 9.9 ALS2 C19orf12 SETX SPG11
25 caspase 8 deficiency 9.8 CASP10 CASP8
26 trehalase deficiency 9.6 ALS2 FUS IGHMBP2 NDUFB3 SETX

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



Diseases related to Juvenile Amyotrophic Lateral Sclerosis

Symptoms & Phenotypes for Juvenile Amyotrophic Lateral Sclerosis

Human phenotypes related to Juvenile Amyotrophic Lateral Sclerosis:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the bladder 59 32 occasional (7.5%) Occasional (29-5%) HP:0000014
2 sensory neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000763
3 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
4 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
5 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
6 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
7 abnormal upper motor neuron morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002127
8 pseudobulbar behavioral symptoms 59 32 frequent (33%) Frequent (79-30%) HP:0002193
9 decreased muscle mass 59 32 frequent (33%) Frequent (79-30%) HP:0003199
10 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
11 abnormal pyramidal signs 59 32 hallmark (90%) Very frequent (99-80%) HP:0007256
12 amyotrophic lateral sclerosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0007354

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell number in S GR00096-A 9.02 ALS2 CASP8 CFLAR FUS UPF1

Drugs & Therapeutics for Juvenile Amyotrophic Lateral Sclerosis

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

Genetic Tests for Juvenile Amyotrophic Lateral Sclerosis

Genetic tests related to Juvenile Amyotrophic Lateral Sclerosis:

# Genetic test Affiliating Genes
1 Juvenile Amyotrophic Lateral Sclerosis 29

Anatomical Context for Juvenile Amyotrophic Lateral Sclerosis

MalaCards organs/tissues related to Juvenile Amyotrophic Lateral Sclerosis:

41
Brain

Publications for Juvenile Amyotrophic Lateral Sclerosis

Articles related to Juvenile Amyotrophic Lateral Sclerosis:

(show all 27)
# Title Authors Year
1
The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis. ( 28429524 )
2017
2
A novel mutation of BICD2 gene associated with juvenile amyotrophic lateral sclerosis. ( 28335620 )
2017
3
Juvenile amyotrophic lateral sclerosis: Classical wine glass sign on magnetic resonance imaging. ( 27195035 )
2016
4
De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia. ( 27123482 )
2016
5
A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis. ( 27999540 )
2016
6
ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. ( 24562058 )
2014
7
A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias. ( 25474699 )
2014
8
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis. ( 23282280 )
2013
9
P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis. ( 21907581 )
2012
10
Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation. ( 22057404 )
2012
11
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. ( 22584950 )
2012
12
Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis. ( 22248478 )
2012
13
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. ( 21842496 )
2011
14
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. ( 20110243 )
2010
15
Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions. ( 20579074 )
2010
16
Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan. ( 20018642 )
2009
17
Chapter 15 Juvenile amyotrophic lateral sclerosis. ( 18808900 )
2007
18
Juvenile amyotrophic lateral sclerosis. ( 16567917 )
2006
19
Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis. ( 16240357 )
2005
20
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). ( 15106121 )
2004
21
Juvenile amyotrophic lateral sclerosis with unusual presentation: a case report. ( 14652459 )
2003
22
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? ( 12023320 )
2002
23
Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2. ( 11161814 )
2001
24
A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34. ( 9889004 )
1999
25
Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. ( 9497266 )
1998
26
Ubiquitin-positive inclusion in anterior horn cells in subgroups of motor neuron diseases: a comparative study of adult-onset amyotrophic lateral sclerosis, juvenile amyotrophic lateral sclerosis and Werdnig-Hoffmann disease. ( 8387100 )
1993
27
[Juvenile amyotrophic lateral sclerosis. Study of 43 cases]. ( 1633561 )
1992

Variations for Juvenile Amyotrophic Lateral Sclerosis

Expression for Juvenile Amyotrophic Lateral Sclerosis

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

Pathways for Juvenile Amyotrophic Lateral Sclerosis

GO Terms for Juvenile Amyotrophic Lateral Sclerosis

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

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.67 ALS2 FUS SPG11 TRAK2
2 axon GO:0030424 9.62 ALS2 IGHMBP2 SETX SPG11
3 growth cone GO:0030426 9.46 ALS2 IGHMBP2 SETX SIGMAR1
4 death-inducing signaling complex GO:0031264 9.26 CASP8 CFLAR
5 CD95 death-inducing signaling complex GO:0031265 9.13 CASP10 CASP8 CFLAR
6 ripoptosome GO:0097342 8.8 CASP10 CASP8 CFLAR

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

# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.62 CASP10 CASP8 CFLAR STRADB
2 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.54 CASP10 CASP8 CFLAR
3 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.33 CASP10 CASP8 CFLAR
4 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.26 CASP8 CFLAR
5 regulation of necroptotic process GO:0060544 8.96 CASP8 CFLAR
6 execution phase of apoptosis GO:0097194 8.8 CASP10 CASP8 CFLAR

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

# Name GO ID Score Top Affiliating Genes
1 cysteine-type peptidase activity GO:0008234 9.63 CASP10 CASP8 CFLAR
2 helicase activity GO:0004386 9.58 IGHMBP2 SETX UPF1
3 cysteine-type endopeptidase activity GO:0004197 9.5 CASP10 CASP8 CFLAR
4 DNA helicase activity GO:0003678 9.43 IGHMBP2 SETX
5 death receptor binding GO:0005123 9.37 CASP8 CFLAR
6 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.33 CASP10 CASP8 CFLAR
7 death effector domain binding GO:0035877 9.26 CASP10 CASP8
8 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.13 CASP10 CASP8 CFLAR
9 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 8.8 CASP10 CASP8 CFLAR

Sources for Juvenile Amyotrophic Lateral Sclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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