Amyotrophic Lateral Sclerosis 23 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Amyotrophic Lateral Sclerosis 23

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 23:

Name: Amyotrophic Lateral Sclerosis 23 ⁵⁸ ⁷⁶ ³⁰ ⁶

Als23 ⁵⁸ ⁷⁶

Amyotrophic Lateral Sclerosis Type 23 ¹²

Amytrophic Lateral Sclerosis 23 ⁵⁸

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
average age at onset 67 years

HPO:

³³

amyotrophic lateral sclerosis 23:
Onset and clinical course incomplete penetrance

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:0080225

OMIM ⁵⁸ 617839

MeSH ⁴⁵ D000690

MedGen ⁴³ C4693381 CN778765

SNOMED-CT via HPO ⁷⁰ 86044005

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Summaries for Amyotrophic Lateral Sclerosis 23

UniProtKB/Swiss-Prot : ⁷⁶ Amyotrophic lateral sclerosis 23: A form of amyotrophic lateral sclerosis, 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. ALS23 is an autosomal dominant form with incomplete penetrance.

MalaCards based summary : Amyotrophic Lateral Sclerosis 23, is also known as als23. An important gene associated with Amyotrophic Lateral Sclerosis 23 is ANXA11 (Annexin A11). Affiliated tissues include brain and spinal cord, and related phenotype is amyotrophic lateral sclerosis.

Description from OMIM: 617839

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Related Diseases for Amyotrophic Lateral Sclerosis 23

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 23

Human phenotypes related to Amyotrophic Lateral Sclerosis 23:

³³

#	Description	HPO Frequency	HPO Source Accession
1	amyotrophic lateral sclerosis ³³		HP:0007354

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neurologic Central Nervous System:
amyotrophic lateral sclerosis
no dementia
upper motor neuron involvement
lower motor neuron involvement

Clinical features from OMIM:

617839

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Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 23

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 23

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Genetic Tests for Amyotrophic Lateral Sclerosis 23

Genetic tests related to Amyotrophic Lateral Sclerosis 23:

#	Genetic test	Affiliating Genes
1	Amyotrophic Lateral Sclerosis 23 ³⁰	ANXA11

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Anatomical Context for Amyotrophic Lateral Sclerosis 23

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 23:

⁴²

Brain, Spinal Cord

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Publications for Amyotrophic Lateral Sclerosis 23

Articles related to Amyotrophic Lateral Sclerosis 23:

#	Title	Authors	Year
1	Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. ( 28469040 )	Smith BN...Shaw CE	2017

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Genes for Amyotrophic Lateral Sclerosis 23

Genes related to Amyotrophic Lateral Sclerosis 23 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ANXA11	Annexin A11	Protein Coding	1328.83	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	28469040

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Variations for Amyotrophic Lateral Sclerosis 23

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 23:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	ANXA11	p.Asp40Gly	VAR_080654	rs124739201

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 23:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ANXA11	NM_001157.2(ANXA11): c.119A> G (p.Asp40Gly)	single nucleotide variant	Pathogenic	rs1247392012	GRCh38	Chromosome 10, 80170852: 80170852
2	ANXA11	NM_001157.2(ANXA11): c.119A> G (p.Asp40Gly)	single nucleotide variant	Pathogenic	rs1247392012	GRCh37	Chromosome 10, 81930608: 81930608
3	ANXA11	NM_145869.1(ANXA11): c.112G> A (p.Gly38Arg)	single nucleotide variant	Pathogenic	rs142083484	GRCh38	Chromosome 10, 80170859: 80170859
4	ANXA11	NM_145869.1(ANXA11): c.112G> A (p.Gly38Arg)	single nucleotide variant	Pathogenic	rs142083484	GRCh37	Chromosome 10, 81930615: 81930615
5	ANXA11	NM_145869.1(ANXA11): c.523G> A (p.Gly175Arg)	single nucleotide variant	Pathogenic	rs754594235	GRCh38	Chromosome 10, 80169007: 80169007
6	ANXA11	NM_145869.1(ANXA11): c.523G> A (p.Gly175Arg)	single nucleotide variant	Pathogenic	rs754594235	GRCh37	Chromosome 10, 81928763: 81928763

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Expression for Amyotrophic Lateral Sclerosis 23

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 23.

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Pathways for Amyotrophic Lateral Sclerosis 23

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GO Terms for Amyotrophic Lateral Sclerosis 23

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Sources for Amyotrophic Lateral Sclerosis 23

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Amyotrophic Lateral Sclerosis 23 (ALS23)

Aliases & Classifications for Amyotrophic Lateral Sclerosis 23

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 23:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Amyotrophic Lateral Sclerosis 23

Related Diseases for Amyotrophic Lateral Sclerosis 23

Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 23

Human phenotypes related to Amyotrophic Lateral Sclerosis 23:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 23

Genetic Tests for Amyotrophic Lateral Sclerosis 23

Genetic tests related to Amyotrophic Lateral Sclerosis 23:

Anatomical Context for Amyotrophic Lateral Sclerosis 23

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 23:

Publications for Amyotrophic Lateral Sclerosis 23

Articles related to Amyotrophic Lateral Sclerosis 23:

Genes for Amyotrophic Lateral Sclerosis 23

Genes related to Amyotrophic Lateral Sclerosis 23 (1 elite genes):

Variations for Amyotrophic Lateral Sclerosis 23

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 23:

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 23:

Expression for Amyotrophic Lateral Sclerosis 23

Pathways for Amyotrophic Lateral Sclerosis 23

GO Terms for Amyotrophic Lateral Sclerosis 23

Sources for Amyotrophic Lateral Sclerosis 23