ALS12
MCID: AMY062
MIFTS: 19

Amyotrophic Lateral Sclerosis 12 (ALS12)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 12

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 12:

Name: Amyotrophic Lateral Sclerosis 12 58 12 76 13 74
Amyotrophic Lateral Sclerosis Type 12 12 30 6
Als12 58 12 76
Sclerosis, Lateral, Amyotrophic, Type Type 12 41

Characteristics:

HPO:

33
amyotrophic lateral sclerosis 12:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060203
OMIM 58 613435
MeSH 45 D000690
MedGen 43 C3150692
UMLS 74 C3150692

Summaries for Amyotrophic Lateral Sclerosis 12

UniProtKB/Swiss-Prot : 76 Amyotrophic lateral sclerosis 12: 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 12, is also known as amyotrophic lateral sclerosis type 12. An important gene associated with Amyotrophic Lateral Sclerosis 12 is OPTN (Optineurin). Affiliated tissues include brain, spinal cord and tongue, and related phenotypes are dysarthria and muscle weakness

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the OPTN gene on chromosome 10.

Description from OMIM: 613435

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 12

Human phenotypes related to Amyotrophic Lateral Sclerosis 12:

33
# Description HPO Frequency HPO Source Accession
1 dysarthria 33 HP:0001260
2 muscle weakness 33 HP:0001324
3 dysphagia 33 HP:0002015
4 amyotrophic lateral sclerosis 33 HP:0007354
5 tongue fasciculations 33 HP:0001308

Clinical features from OMIM:

613435

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 12

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 12

Genetic Tests for Amyotrophic Lateral Sclerosis 12

Genetic tests related to Amyotrophic Lateral Sclerosis 12:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 12 30 OPTN

Anatomical Context for Amyotrophic Lateral Sclerosis 12

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 12:

42
Brain, Spinal Cord, Tongue

Publications for Amyotrophic Lateral Sclerosis 12

Articles related to Amyotrophic Lateral Sclerosis 12:

# Title Authors Year
1
Mutations of optineurin in amyotrophic lateral sclerosis. ( 20428114 )
2010

Variations for Amyotrophic Lateral Sclerosis 12

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 12:

76
# Symbol AA change Variation ID SNP ID
1 OPTN p.Glu478Gly VAR_063597 rs267606929
2 OPTN p.Val295Phe VAR_078108 rs761558354

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 12:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 OPTN NM_001008211.1(OPTN): c.1634G> A (p.Arg545Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs75654767 GRCh37 Chromosome 10, 13178766: 13178766
2 OPTN NM_001008211.1(OPTN): c.1634G> A (p.Arg545Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs75654767 GRCh38 Chromosome 10, 13136766: 13136766
3 OPTN OPTN, EX5DEL deletion Pathogenic
4 OPTN NM_001008211.1(OPTN): c.1192C> T (p.Gln398Ter) single nucleotide variant Pathogenic rs267606928 GRCh37 Chromosome 10, 13167989: 13167989
5 OPTN NM_001008211.1(OPTN): c.1192C> T (p.Gln398Ter) single nucleotide variant Pathogenic rs267606928 GRCh38 Chromosome 10, 13125989: 13125989
6 OPTN NM_001008211.1(OPTN): c.1433A> G (p.Glu478Gly) single nucleotide variant Pathogenic rs267606929 GRCh37 Chromosome 10, 13174098: 13174098
7 OPTN NM_001008211.1(OPTN): c.1433A> G (p.Glu478Gly) single nucleotide variant Pathogenic rs267606929 GRCh38 Chromosome 10, 13132098: 13132098
8 OPTN NM_001008211.1(OPTN): c.489A> G (p.Glu163=) single nucleotide variant Likely benign rs113811959 GRCh37 Chromosome 10, 13154572: 13154572
9 OPTN NM_001008211.1(OPTN): c.489A> G (p.Glu163=) single nucleotide variant Likely benign rs113811959 GRCh38 Chromosome 10, 13112572: 13112572
10 OPTN NM_001008211.1(OPTN): c.626+24G> A single nucleotide variant Benign rs11258211 GRCh38 Chromosome 10, 13116364: 13116364
11 OPTN NM_001008211.1(OPTN): c.626+24G> A single nucleotide variant Benign rs11258211 GRCh37 Chromosome 10, 13158364: 13158364
12 OPTN NM_001008212.1(OPTN): c.941A> T (p.Gln314Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142812715 GRCh38 Chromosome 10, 13124053: 13124053
13 OPTN NM_001008212.1(OPTN): c.941A> T (p.Gln314Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142812715 GRCh37 Chromosome 10, 13166053: 13166053
14 OPTN NM_021980.4(OPTN): c.963C> T (p.Ser321=) single nucleotide variant Conflicting interpretations of pathogenicity rs150381274 GRCh37 Chromosome 10, 13166075: 13166075
15 OPTN NM_021980.4(OPTN): c.963C> T (p.Ser321=) single nucleotide variant Conflicting interpretations of pathogenicity rs150381274 GRCh38 Chromosome 10, 13124075: 13124075
16 OPTN NM_021980.4(OPTN): c.1401+21C> G single nucleotide variant Likely benign rs553828705 GRCh37 Chromosome 10, 13169924: 13169924
17 OPTN NM_021980.4(OPTN): c.1401+21C> G single nucleotide variant Likely benign rs553828705 GRCh38 Chromosome 10, 13127924: 13127924
18 OPTN NC_000010.11: g.(?_13109103)_(13136886_?)del deletion Pathogenic GRCh37 Chromosome 10, 13151103: 13178886
19 OPTN NC_000010.11: g.(?_13109103)_(13136886_?)del deletion Pathogenic GRCh38 Chromosome 10, 13109103: 13136886
20 OPTN NC_000010.10: g.(?_12833157)_(13178866_?)del deletion Pathogenic GRCh37 Chromosome 10, 12833157: 13178866
21 OPTN NC_000010.11: g.(?_13109123)_(13183100_?)del deletion Pathogenic GRCh38 Chromosome 10, 13109123: 13183100
22 OPTN NC_000010.11: g.(?_13109123)_(13183100_?)del deletion Pathogenic GRCh37 Chromosome 10, 13151123: 13225100
23 OPTN NM_021980.4(OPTN): c.14C> G (p.Pro5Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 13109136: 13109136
24 OPTN NM_021980.4(OPTN): c.14C> G (p.Pro5Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 13151136: 13151136
25 OPTN NM_001008211.1(OPTN): c.158_161dup (p.Lys55Alafs) duplication Pathogenic GRCh37 Chromosome 10, 13151280: 13151283
26 OPTN NM_001008211.1(OPTN): c.158_161dup (p.Lys55Alafs) duplication Pathogenic GRCh38 Chromosome 10, 13109280: 13109283

Expression for Amyotrophic Lateral Sclerosis 12

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 12.

Pathways for Amyotrophic Lateral Sclerosis 12

GO Terms for Amyotrophic Lateral Sclerosis 12

Sources for Amyotrophic Lateral Sclerosis 12

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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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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