ALS16
MCID: AMY057
MIFTS: 27

Amyotrophic Lateral Sclerosis 16, Juvenile (ALS16)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 16, Juvenile

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 16, Juvenile:

Name: Amyotrophic Lateral Sclerosis 16, Juvenile 58 12 76 30 13 6 74
Als16 58 12 76
Amyotrophic Lateral Sclerosis Type 16 12 15
Sclerosis, Lateral, Amyotrophic, Type 16, Juvenile 41
Amyotrophic Lateral Sclerosis 16 12

Characteristics:

OMIM:

58
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:

33
amyotrophic lateral sclerosis 16, juvenile:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060207
OMIM 58 614373
MeSH 45 D000690
MedGen 43 C3280587
UMLS 74 C3280587

Summaries for Amyotrophic Lateral Sclerosis 16, Juvenile

UniProtKB/Swiss-Prot : 76 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 1, 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 is Neuroscience. Affiliated tissues include brain and spinal cord, and related phenotypes are spasticity and muscle weakness

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

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 16, Juvenile

Human phenotypes related to Amyotrophic Lateral Sclerosis 16, Juvenile:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 spasticity 33 HP:0001257
2 muscle weakness 33 HP:0001324
3 hyperreflexia 33 HP:0001347
4 amyotrophic lateral sclerosis 33 HP:0007354
5 abnormal upper motor neuron morphology 33 HP:0002127
6 abnormal lower motor neuron morphology 33 HP:0002366

Symptoms via clinical synopsis from OMIM:

58
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

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 30 SIGMAR1

Anatomical Context for Amyotrophic Lateral Sclerosis 16, Juvenile

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

42
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:

76
# 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 top 50) (show all 57)
# Gene Variation Type Significance SNP ID Assembly Location
1 SIGMAR1 NM_005866.3(SIGMAR1): c.*31A> G single nucleotide variant Uncertain significance rs4879809 GRCh38 Chromosome 9, 34635601: 34635601
2 SIGMAR1 NM_005866.3(SIGMAR1): c.*31A> G single nucleotide variant Uncertain significance rs4879809 GRCh37 Chromosome 9, 34635598: 34635598
3 SIGMAR1 NM_005866.3(SIGMAR1): c.283dupC (p.Leu95Profs) duplication Pathogenic rs780136067 GRCh37 Chromosome 9, 34637286: 34637286
4 SIGMAR1 NM_005866.3(SIGMAR1): c.283dupC (p.Leu95Profs) duplication Pathogenic rs780136067 GRCh38 Chromosome 9, 34637289: 34637289
5 SIGMAR1 NM_005866.3(SIGMAR1): c.304G> C (p.Glu102Gln) single nucleotide variant Pathogenic rs387906829 GRCh37 Chromosome 9, 34637265: 34637265
6 SIGMAR1 NM_005866.3(SIGMAR1): c.304G> C (p.Glu102Gln) single nucleotide variant Pathogenic rs387906829 GRCh38 Chromosome 9, 34637268: 34637268
7 SIGMAR1 NM_005866.3(SIGMAR1): c.561_576del16 (p.Asp188Profs) deletion Likely pathogenic rs1554707680 GRCh37 Chromosome 9, 34635725: 34635740
8 SIGMAR1 NM_005866.3(SIGMAR1): c.561_576del16 (p.Asp188Profs) deletion Likely pathogenic rs1554707680 GRCh38 Chromosome 9, 34635728: 34635743
9 SIGMAR1 NC_000009.12: g.34635592_34635883del292 deletion Likely pathogenic rs1554707622 GRCh37 Chromosome 9, 34635589: 34635880
10 SIGMAR1 NC_000009.12: g.34635592_34635883del292 deletion Likely pathogenic rs1554707622 GRCh38 Chromosome 9, 34635592: 34635883
11 SIGMAR1 NM_005866.3(SIGMAR1): c.545T> C (p.Leu182Pro) single nucleotide variant Uncertain significance rs781091660 GRCh37 Chromosome 9, 34635756: 34635756
12 SIGMAR1 NM_005866.3(SIGMAR1): c.545T> C (p.Leu182Pro) single nucleotide variant Uncertain significance rs781091660 GRCh38 Chromosome 9, 34635759: 34635759
13 SIGMAR1 NM_005866.3(SIGMAR1): c.463G> A (p.Gly155Arg) single nucleotide variant Uncertain significance rs200076129 GRCh37 Chromosome 9, 34635838: 34635838
14 SIGMAR1 NM_005866.3(SIGMAR1): c.463G> A (p.Gly155Arg) single nucleotide variant Uncertain significance rs200076129 GRCh38 Chromosome 9, 34635841: 34635841
15 SIGMAR1 NM_005866.3(SIGMAR1): c.240G> A (p.Gln80=) single nucleotide variant Benign rs10972178 GRCh37 Chromosome 9, 34637329: 34637329
16 SIGMAR1 NM_005866.3(SIGMAR1): c.240G> A (p.Gln80=) single nucleotide variant Benign rs10972178 GRCh38 Chromosome 9, 34637332: 34637332
17 SIGMAR1 NM_005866.3(SIGMAR1): c.6G> A (p.Gln2=) single nucleotide variant Benign rs541251697 GRCh37 Chromosome 9, 34637689: 34637689
18 SIGMAR1 NM_005866.3(SIGMAR1): c.6G> A (p.Gln2=) single nucleotide variant Benign rs541251697 GRCh38 Chromosome 9, 34637692: 34637692
19 SIGMAR1 NM_005866.3(SIGMAR1): c.153G> A (p.Gly51=) single nucleotide variant Benign rs12115733 GRCh37 Chromosome 9, 34637416: 34637416
20 SIGMAR1 NM_005866.3(SIGMAR1): c.153G> A (p.Gly51=) single nucleotide variant Benign rs12115733 GRCh38 Chromosome 9, 34637419: 34637419
21 SIGMAR1 NM_005866.3(SIGMAR1): c.622C> T (p.Arg208Trp) single nucleotide variant Benign rs11559048 GRCh37 Chromosome 9, 34635679: 34635679
22 SIGMAR1 NM_005866.3(SIGMAR1): c.622C> T (p.Arg208Trp) single nucleotide variant Benign rs11559048 GRCh38 Chromosome 9, 34635682: 34635682
23 SIGMAR1 NM_005866.3(SIGMAR1): c.552C> T (p.Phe184=) single nucleotide variant Benign rs61739588 GRCh37 Chromosome 9, 34635749: 34635749
24 SIGMAR1 NM_005866.3(SIGMAR1): c.552C> T (p.Phe184=) single nucleotide variant Benign rs61739588 GRCh38 Chromosome 9, 34635752: 34635752
25 SIGMAR1 NM_001282205.1(SIGMAR1): c.416G> T (p.Gly139Val) single nucleotide variant Likely pathogenic rs1270528470 GRCh37 Chromosome 9, 34637023: 34637023
26 SIGMAR1 NM_001282205.1(SIGMAR1): c.416G> T (p.Gly139Val) single nucleotide variant Likely pathogenic rs1270528470 GRCh38 Chromosome 9, 34637026: 34637026
27 SIGMAR1 NM_005866.3(SIGMAR1): c.11C> T (p.Ala4Val) single nucleotide variant Uncertain significance rs367968662 GRCh37 Chromosome 9, 34637684: 34637684
28 SIGMAR1 NM_005866.3(SIGMAR1): c.11C> T (p.Ala4Val) single nucleotide variant Uncertain significance rs367968662 GRCh38 Chromosome 9, 34637687: 34637687
29 SIGMAR1 NM_005866.3(SIGMAR1): c.453G> A (p.Thr151=) single nucleotide variant Likely benign rs751571040 GRCh38 Chromosome 9, 34635851: 34635851
30 SIGMAR1 NM_005866.3(SIGMAR1): c.453G> A (p.Thr151=) single nucleotide variant Likely benign rs751571040 GRCh37 Chromosome 9, 34635848: 34635848
31 SIGMAR1 NM_005866.3(SIGMAR1): c.339C> T (p.Ser113=) single nucleotide variant Likely benign rs754738945 GRCh38 Chromosome 9, 34637233: 34637233
32 SIGMAR1 NM_005866.3(SIGMAR1): c.339C> T (p.Ser113=) single nucleotide variant Likely benign rs754738945 GRCh37 Chromosome 9, 34637230: 34637230
33 SIGMAR1 NM_005866.3(SIGMAR1): c.92G> A (p.Gly31Asp) single nucleotide variant Uncertain significance rs532632647 GRCh38 Chromosome 9, 34637606: 34637606
34 SIGMAR1 NM_005866.3(SIGMAR1): c.92G> A (p.Gly31Asp) single nucleotide variant Uncertain significance rs532632647 GRCh37 Chromosome 9, 34637603: 34637603
35 SIGMAR1 NM_005866.3(SIGMAR1): c.344G> T (p.Gly115Val) single nucleotide variant Uncertain significance rs1241574813 GRCh38 Chromosome 9, 34637228: 34637228
36 SIGMAR1 NM_005866.3(SIGMAR1): c.344G> T (p.Gly115Val) single nucleotide variant Uncertain significance rs1241574813 GRCh37 Chromosome 9, 34637225: 34637225
37 SIGMAR1 NM_005866.3(SIGMAR1): c.303C> T (p.Ser101=) single nucleotide variant Likely benign rs59277791 GRCh37 Chromosome 9, 34637266: 34637266
38 SIGMAR1 NM_005866.3(SIGMAR1): c.303C> T (p.Ser101=) single nucleotide variant Likely benign rs59277791 GRCh38 Chromosome 9, 34637269: 34637269
39 covers 50 genes, none of which curated to show dosage sensitivity NC_000009.11: g.(?_34458984)_(36277059_?)dup duplication Uncertain significance GRCh37 Chromosome 9, 34458984: 36277059
40 SIGMAR1 NM_005866.3(SIGMAR1): c.194T> A (p.Leu65Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 34637375: 34637375
41 SIGMAR1 NM_005866.3(SIGMAR1): c.194T> A (p.Leu65Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 34637378: 34637378
42 SIGMAR1 NM_005866.3(SIGMAR1): c.79T> A (p.Trp27Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 34637616: 34637616
43 SIGMAR1 NM_005866.3(SIGMAR1): c.79T> A (p.Trp27Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 34637619: 34637619
44 SIGMAR1 NM_005866.3(SIGMAR1): c.632G> A (p.Arg211Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 34635669: 34635669
45 SIGMAR1 NM_005866.3(SIGMAR1): c.632G> A (p.Arg211Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 34635672: 34635672
46 SIGMAR1 NM_005866.3(SIGMAR1): c.61G> C (p.Val21Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 34637637: 34637637
47 SIGMAR1 NM_005866.3(SIGMAR1): c.61G> C (p.Val21Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 34637634: 34637634
48 SIGMAR1 NM_005866.3(SIGMAR1): c.446-5C> G single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 34635863: 34635863
49 SIGMAR1 NM_005866.3(SIGMAR1): c.446-5C> G single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 34635860: 34635860
50 SIGMAR1 NM_005866.3(SIGMAR1): c.247T> C (p.Phe83Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 34637325: 34637325

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 11.16 SIGMAR1 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 cytoplasmic vesicle GO:0031410 8.62 SIGMAR1 SOD1

Sources for Amyotrophic Lateral Sclerosis 16, Juvenile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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