MCID: AMY062
MIFTS: 23

Amyotrophic Lateral Sclerosis 12

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 12

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 12:

Name: Amyotrophic Lateral Sclerosis 12 57 12 75 13 73
Amyotrophic Lateral Sclerosis Type 12 12 29 6 15
Als12 57 12 75
Sclerosis, Lateral, Amyotrophic, Type Type 12 40

Classifications:



External Ids:

OMIM 57 613435
Disease Ontology 12 DOID:0060203
MedGen 42 C3150692
MeSH 44 D000690
UMLS 73 C3150692

Summaries for Amyotrophic Lateral Sclerosis 12

UniProtKB/Swiss-Prot : 75 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, also known as amyotrophic lateral sclerosis type 12, is related to amyotrophic lateral sclerosis type 14 and amyotrophic lateral sclerosis 11. 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 tongue fasciculations

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

Description from OMIM: 613435

Related Diseases for Amyotrophic Lateral Sclerosis 12

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 12

Clinical features from OMIM:

613435

Human phenotypes related to Amyotrophic Lateral Sclerosis 12:

32
# Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 tongue fasciculations 32 HP:0001308
3 muscle weakness 32 HP:0001324
4 dysphagia 32 HP:0002015
5 amyotrophic lateral sclerosis 32 HP:0007354

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 29 OPTN

Anatomical Context for Amyotrophic Lateral Sclerosis 12

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 12:

41
Brain, Spinal Cord, Tongue

Publications for Amyotrophic Lateral Sclerosis 12

Variations for Amyotrophic Lateral Sclerosis 12

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

75
# 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 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 OPTN OPTN, EX5DEL deletion Pathogenic
2 OPTN NM_001008211.1(OPTN): c.1192C> T (p.Gln398Ter) single nucleotide variant Pathogenic rs267606928 GRCh37 Chromosome 10, 13167989: 13167989
3 OPTN NM_001008211.1(OPTN): c.1192C> T (p.Gln398Ter) single nucleotide variant Pathogenic rs267606928 GRCh38 Chromosome 10, 13125989: 13125989
4 OPTN NM_001008211.1(OPTN): c.1433A> G (p.Glu478Gly) single nucleotide variant Pathogenic rs267606929 GRCh37 Chromosome 10, 13174098: 13174098
5 OPTN NM_001008211.1(OPTN): c.1433A> G (p.Glu478Gly) single nucleotide variant Pathogenic rs267606929 GRCh38 Chromosome 10, 13132098: 13132098
6 OPTN NM_001008211.1(OPTN): c.489A> G (p.Glu163=) single nucleotide variant Likely benign rs113811959 GRCh37 Chromosome 10, 13154572: 13154572
7 OPTN NM_001008211.1(OPTN): c.489A> G (p.Glu163=) single nucleotide variant Likely benign rs113811959 GRCh38 Chromosome 10, 13112572: 13112572
8 OPTN NM_001008211.1(OPTN): c.626+24G> A single nucleotide variant Benign rs11258211 GRCh38 Chromosome 10, 13116364: 13116364
9 OPTN NM_001008211.1(OPTN): c.626+24G> A single nucleotide variant Benign rs11258211 GRCh37 Chromosome 10, 13158364: 13158364
10 OPTN NM_001008212.1(OPTN): c.941A> T (p.Gln314Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142812715 GRCh38 Chromosome 10, 13124053: 13124053
11 OPTN NM_001008212.1(OPTN): c.941A> T (p.Gln314Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142812715 GRCh37 Chromosome 10, 13166053: 13166053
12 OPTN NM_021980.4(OPTN): c.963C> T (p.Ser321=) single nucleotide variant Conflicting interpretations of pathogenicity rs150381274 GRCh37 Chromosome 10, 13166075: 13166075
13 OPTN NM_021980.4(OPTN): c.963C> T (p.Ser321=) single nucleotide variant Conflicting interpretations of pathogenicity rs150381274 GRCh38 Chromosome 10, 13124075: 13124075
14 OPTN NM_021980.4(OPTN): c.1401+21C> G single nucleotide variant Likely benign rs553828705 GRCh38 Chromosome 10, 13127924: 13127924
15 OPTN NM_021980.4(OPTN): c.1401+21C> G single nucleotide variant Likely benign rs553828705 GRCh37 Chromosome 10, 13169924: 13169924
16 OPTN NC_000010.11: g.(?_13109103)_(13136886_?)del deletion Pathogenic GRCh37 Chromosome 10, 13151103: 13178886
17 OPTN NC_000010.11: g.(?_13109103)_(13136886_?)del deletion Pathogenic GRCh38 Chromosome 10, 13109103: 13136886

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
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
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37 KEGG
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40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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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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