MCID: AMY057
MIFTS: 31

Amyotrophic Lateral Sclerosis 16, Juvenile

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 16, Juvenile

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 16, Juvenile:

Name: Amyotrophic Lateral Sclerosis 16, Juvenile 57 12 75 29 13 6 73
Als16 57 12 75
Amyotrophic Lateral Sclerosis Type 16 12 15
Sclerosis, Lateral, Amyotrophic, Type 16, Juvenile 40
Amyotrophic Lateral Sclerosis 16 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
age of onset 1 to 2 years
onset in lower limbs
progresses to involve upper limbs
six patients from 1 saudi arabian family have been reported (last curated december 2011)
two of 6 patients became wheelchair-bound by age 20 years


HPO:

32
amyotrophic lateral sclerosis 16, juvenile:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614373
Disease Ontology 12 DOID:0060207
MedGen 42 C3280587
MeSH 44 D000690
UMLS 73 C3280587

Summaries for Amyotrophic Lateral Sclerosis 16, Juvenile

UniProtKB/Swiss-Prot : 75 Amyotrophic lateral sclerosis 16, juvenile: 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.

MalaCards based summary : Amyotrophic Lateral Sclerosis 16, Juvenile, also known as als16, is related to juvenile amyotrophic lateral sclerosis and amyotrophic lateral sclerosis 2, juvenile, and has symptoms including muscle spasticity and upper motor neuron signs. An important gene associated with Amyotrophic Lateral Sclerosis 16, Juvenile is SIGMAR1 (Sigma Non-Opioid Intracellular Receptor 1), and among its related pathways/superpathways are Neuroscience and Amyotrophic lateral sclerosis (ALS). Affiliated tissues include brain and spinal cord, and related phenotypes are spasticity and hyperreflexia

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the SIGMAR1 gene (SETX) on chromosome 9.

Description from OMIM: 614373

Related Diseases for Amyotrophic Lateral Sclerosis 16, Juvenile

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 16, Juvenile:



Diseases related to Amyotrophic Lateral Sclerosis 16, Juvenile

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 16, Juvenile

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
hyperreflexia
upper motor neuron signs
lower motor neuron signs
normal cognition
more
Muscle Soft Tissue:
limb muscle weakness, upper and lower


Clinical features from OMIM:

614373

Human phenotypes related to Amyotrophic Lateral Sclerosis 16, Juvenile:

32
# Description HPO Frequency HPO Source Accession
1 spasticity 32 HP:0001257
2 hyperreflexia 32 HP:0001347
3 abnormal upper motor neuron morphology 32 HP:0002127
4 abnormal lower motor neuron morphology 32 HP:0002366
5 amyotrophic lateral sclerosis 32 HP:0007354

UMLS symptoms related to Amyotrophic Lateral Sclerosis 16, Juvenile:


muscle spasticity, upper motor neuron signs

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 16, Juvenile

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 16, Juvenile

Genetic Tests for Amyotrophic Lateral Sclerosis 16, Juvenile

Genetic tests related to Amyotrophic Lateral Sclerosis 16, Juvenile:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis 16, Juvenile 29 SIGMAR1

Anatomical Context for Amyotrophic Lateral Sclerosis 16, Juvenile

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 16, Juvenile:

41
Brain, Spinal Cord

Publications for Amyotrophic Lateral Sclerosis 16, Juvenile

Variations for Amyotrophic Lateral Sclerosis 16, Juvenile

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 16, Juvenile:

75
# Symbol AA change Variation ID SNP ID
1 SIGMAR1 p.Glu102Gln VAR_067311 rs387906829

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 16, Juvenile:

6
(show all 35)
# Gene Variation Type Significance SNP ID Assembly Location
1 SIGMAR1 NM_005866.3(SIGMAR1): c.304G> C (p.Glu102Gln) single nucleotide variant Pathogenic rs387906829 GRCh37 Chromosome 9, 34637265: 34637265
2 SIGMAR1 NM_005866.3(SIGMAR1): c.304G> C (p.Glu102Gln) single nucleotide variant Pathogenic rs387906829 GRCh38 Chromosome 9, 34637268: 34637268
3 SIGMAR1 NM_005866.3(SIGMAR1): c.*31A> G single nucleotide variant Uncertain significance rs4879809 GRCh38 Chromosome 9, 34635601: 34635601
4 SIGMAR1 NM_005866.3(SIGMAR1): c.*31A> G single nucleotide variant Uncertain significance rs4879809 GRCh37 Chromosome 9, 34635598: 34635598
5 SIGMAR1 NM_005866.3(SIGMAR1): c.283dupC (p.Leu95Profs) duplication Pathogenic rs780136067 GRCh37 Chromosome 9, 34637286: 34637286
6 SIGMAR1 NM_005866.3(SIGMAR1): c.283dupC (p.Leu95Profs) duplication Pathogenic rs780136067 GRCh38 Chromosome 9, 34637289: 34637289
7 SIGMAR1 NM_005866.3(SIGMAR1): c.561_576del16 (p.Asp188Profs) deletion Likely pathogenic rs1135401785 GRCh37 Chromosome 9, 34635725: 34635740
8 SIGMAR1 NM_005866.3(SIGMAR1): c.561_576del16 (p.Asp188Profs) deletion Likely pathogenic rs1135401785 GRCh38 Chromosome 9, 34635728: 34635743
9 SIGMAR1 NC_000009.11: g.34635589_34635880del292 deletion Likely pathogenic GRCh37 Chromosome 9, 34635589: 34635880
10 SIGMAR1 NM_005866.3(SIGMAR1): c.463G> A (p.Gly155Arg) single nucleotide variant Uncertain significance rs200076129 GRCh37 Chromosome 9, 34635838: 34635838
11 SIGMAR1 NM_005866.3(SIGMAR1): c.463G> A (p.Gly155Arg) single nucleotide variant Uncertain significance rs200076129 GRCh38 Chromosome 9, 34635841: 34635841
12 SIGMAR1 NM_005866.3(SIGMAR1): c.240G> A (p.Gln80=) single nucleotide variant Benign rs10972178 GRCh37 Chromosome 9, 34637329: 34637329
13 SIGMAR1 NM_005866.3(SIGMAR1): c.240G> A (p.Gln80=) single nucleotide variant Benign rs10972178 GRCh38 Chromosome 9, 34637332: 34637332
14 SIGMAR1 NM_005866.3(SIGMAR1): c.6G> A (p.Gln2=) single nucleotide variant Benign rs541251697 GRCh37 Chromosome 9, 34637689: 34637689
15 SIGMAR1 NM_005866.3(SIGMAR1): c.6G> A (p.Gln2=) single nucleotide variant Benign rs541251697 GRCh38 Chromosome 9, 34637692: 34637692
16 SIGMAR1 NM_005866.3(SIGMAR1): c.153G> A (p.Gly51=) single nucleotide variant Benign rs12115733 GRCh37 Chromosome 9, 34637416: 34637416
17 SIGMAR1 NM_005866.3(SIGMAR1): c.153G> A (p.Gly51=) single nucleotide variant Benign rs12115733 GRCh38 Chromosome 9, 34637419: 34637419
18 SIGMAR1 NM_005866.3(SIGMAR1): c.622C> T (p.Arg208Trp) single nucleotide variant Benign rs11559048 GRCh37 Chromosome 9, 34635679: 34635679
19 SIGMAR1 NM_005866.3(SIGMAR1): c.622C> T (p.Arg208Trp) single nucleotide variant Benign rs11559048 GRCh38 Chromosome 9, 34635682: 34635682
20 SIGMAR1 NM_005866.3(SIGMAR1): c.552C> T (p.Phe184=) single nucleotide variant Benign rs61739588 GRCh37 Chromosome 9, 34635749: 34635749
21 SIGMAR1 NM_005866.3(SIGMAR1): c.552C> T (p.Phe184=) single nucleotide variant Benign rs61739588 GRCh38 Chromosome 9, 34635752: 34635752
22 SIGMAR1 NM_001282205.1(SIGMAR1): c.416G> T (p.Gly139Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome 9, 34637023: 34637023
23 SIGMAR1 NM_001282205.1(SIGMAR1): c.416G> T (p.Gly139Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome 9, 34637026: 34637026
24 SIGMAR1 NM_005866.3(SIGMAR1): c.11C> T (p.Ala4Val) single nucleotide variant Uncertain significance rs367968662 GRCh38 Chromosome 9, 34637687: 34637687
25 SIGMAR1 NM_005866.3(SIGMAR1): c.11C> T (p.Ala4Val) single nucleotide variant Uncertain significance rs367968662 GRCh37 Chromosome 9, 34637684: 34637684
26 SIGMAR1 NM_005866.3(SIGMAR1): c.453G> A (p.Thr151=) single nucleotide variant Likely benign rs751571040 GRCh37 Chromosome 9, 34635848: 34635848
27 SIGMAR1 NM_005866.3(SIGMAR1): c.453G> A (p.Thr151=) single nucleotide variant Likely benign rs751571040 GRCh38 Chromosome 9, 34635851: 34635851
28 SIGMAR1 NM_005866.3(SIGMAR1): c.339C> T (p.Ser113=) single nucleotide variant Likely benign rs754738945 GRCh38 Chromosome 9, 34637233: 34637233
29 SIGMAR1 NM_005866.3(SIGMAR1): c.339C> T (p.Ser113=) single nucleotide variant Likely benign rs754738945 GRCh37 Chromosome 9, 34637230: 34637230
30 SIGMAR1 NM_005866.3(SIGMAR1): c.92G> A (p.Gly31Asp) single nucleotide variant Uncertain significance rs532632647 GRCh38 Chromosome 9, 34637606: 34637606
31 SIGMAR1 NM_005866.3(SIGMAR1): c.92G> A (p.Gly31Asp) single nucleotide variant Uncertain significance rs532632647 GRCh37 Chromosome 9, 34637603: 34637603
32 SIGMAR1 NM_005866.3(SIGMAR1): c.344G> T (p.Gly115Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 34637228: 34637228
33 SIGMAR1 NM_005866.3(SIGMAR1): c.344G> T (p.Gly115Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 34637225: 34637225
34 SIGMAR1 NM_005866.3(SIGMAR1): c.303C> T (p.Ser101=) single nucleotide variant Likely benign rs59277791 GRCh37 Chromosome 9, 34637266: 34637266
35 SIGMAR1 NM_005866.3(SIGMAR1): c.303C> T (p.Ser101=) single nucleotide variant Likely benign rs59277791 GRCh38 Chromosome 9, 34637269: 34637269

Expression for Amyotrophic Lateral Sclerosis 16, Juvenile

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 16, Juvenile.

Pathways for Amyotrophic Lateral Sclerosis 16, Juvenile

Pathways related to Amyotrophic Lateral Sclerosis 16, Juvenile according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.49 SIGMAR1 SOD1
2
Show member pathways
10.68 ALS2 SOD1

GO Terms for Amyotrophic Lateral Sclerosis 16, Juvenile

Cellular components related to Amyotrophic Lateral Sclerosis 16, Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.26 ALS2 SOD1
2 neuronal cell body GO:0043025 9.16 ALS2 SOD1
3 postsynaptic density GO:0014069 8.96 ALS2 SIGMAR1
4 growth cone GO:0030426 8.62 ALS2 SIGMAR1

Biological processes related to Amyotrophic Lateral Sclerosis 16, Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.16 ALS2 SOD1
2 locomotory behavior GO:0007626 8.96 ALS2 SOD1
3 regulation of GTPase activity GO:0043087 8.62 ALS2 SOD1

Sources for Amyotrophic Lateral Sclerosis 16, Juvenile

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
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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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