Amyotrophic Lateral Sclerosis 12 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Respiratory diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060203

OMIM ⁵⁸ 613435

MeSH ⁴⁵ D000690

MedGen ⁴³ C3150692

SNOMED-CT via HPO ⁷⁰ 249878001 26544005 288939007 more

UMLS ⁷⁴ C3150692

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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

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Related Diseases for Amyotrophic Lateral Sclerosis 12

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

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Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 12

Human phenotypes related to Amyotrophic Lateral Sclerosis 12:

³³

#	Description	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

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Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 12

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

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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

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Anatomical Context for Amyotrophic Lateral Sclerosis 12

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 12:

⁴²

Brain, Spinal Cord, Tongue

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Publications for Amyotrophic Lateral Sclerosis 12

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Genes for Amyotrophic Lateral Sclerosis 12

Genes related to Amyotrophic Lateral Sclerosis 12 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	OPTN	Optineurin	Protein Coding	1327.92	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	20428114 20301623

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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	OPTN, EX5DEL	deletion	Pathogenic
2	OPTN	NM_001008211.1(OPTN): c.1634G> A (p.Arg545Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs75654767	GRCh37	Chromosome 10, 13178766: 13178766
3	OPTN	NM_001008211.1(OPTN): c.1634G> A (p.Arg545Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs75654767	GRCh38	Chromosome 10, 13136766: 13136766
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		GRCh38	Chromosome 10, 13109280: 13109283
26	OPTN	NM_001008211.1(OPTN): c.158_161dup (p.Lys55Alafs)	duplication	Pathogenic		GRCh37	Chromosome 10, 13151280: 13151283

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Expression for Amyotrophic Lateral Sclerosis 12

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

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Pathways for Amyotrophic Lateral Sclerosis 12

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GO Terms for Amyotrophic Lateral Sclerosis 12

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Sources for Amyotrophic Lateral Sclerosis 12

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Amyotrophic Lateral Sclerosis 12 (ALS12)

Aliases & Classifications for Amyotrophic Lateral Sclerosis 12

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 12:

Classifications:

External Ids:

Summaries for Amyotrophic Lateral Sclerosis 12

Related Diseases for Amyotrophic Lateral Sclerosis 12

Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 12

Human phenotypes related to Amyotrophic Lateral Sclerosis 12:

Clinical features from OMIM:

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 12

Genetic Tests for Amyotrophic Lateral Sclerosis 12

Genetic tests related to Amyotrophic Lateral Sclerosis 12:

Anatomical Context for Amyotrophic Lateral Sclerosis 12

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 12:

Publications for Amyotrophic Lateral Sclerosis 12

Genes for Amyotrophic Lateral Sclerosis 12

Genes related to Amyotrophic Lateral Sclerosis 12 (1 elite genes):

Variations for Amyotrophic Lateral Sclerosis 12

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

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 12:

Expression for Amyotrophic Lateral Sclerosis 12

Pathways for Amyotrophic Lateral Sclerosis 12

GO Terms for Amyotrophic Lateral Sclerosis 12

Sources for Amyotrophic Lateral Sclerosis 12