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 ⁵⁶ ⁷³

Amyotrophic Lateral Sclerosis Type 23 ¹² ²⁹ ⁶

Amytrophic Lateral Sclerosis 23 ⁵⁶ ²⁹

Als23 ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

Miscellaneous:
incomplete penetrance
average age at onset 67 years

Inheritance:
autosomal dominant

HPO:

³¹

amyotrophic lateral sclerosis 23:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080225

OMIM ⁵⁶ 617839

OMIM Phenotypic Series ⁵⁶ PS105400

MeSH ⁴³ D000690

MedGen ⁴¹ C4693381 CN778765

SNOMED-CT via HPO ⁶⁸ 263681008 86044005

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Summaries for Amyotrophic Lateral Sclerosis 23

UniProtKB/Swiss-Prot : ⁷³ 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 amyotrophic lateral sclerosis type 23. 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.

More information from OMIM: 617839 PS105400

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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:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	amyotrophic lateral sclerosis ³¹		HP:0007354

Symptoms via clinical synopsis from OMIM:

⁵⁶

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 Type 23 ²⁹	ANXA11
2	Amytrophic Lateral Sclerosis 23 ²⁹

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Anatomical Context for Amyotrophic Lateral Sclerosis 23

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 23:

⁴⁰

Brain, Spinal Cord

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Publications for Amyotrophic Lateral Sclerosis 23

Articles related to Amyotrophic Lateral Sclerosis 23:

#	Title	Authors	PMID	Year
1	Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. ⁵⁶ ⁶	Smith BN...Shaw CE	28469040	2017
2	EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. ⁶	EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis:...Weber M	21914052	2012
3	Amyotrophic Lateral Sclerosis Overview ⁶	Siddique N...Siddique T	20301623	2001
4	[Proceedings of the Consensus Conference on Amyotrophic Lateral Sclerosis, 23-24 November 2005, Nice, France]. ⁶¹		17128083	2006

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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	1318.18	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	28469040

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Variations for Amyotrophic Lateral Sclerosis 23

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 23:

⁶ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ANXA11	NM_145868.2(ANXA11):c.119A>G (p.Asp40Gly)	SNV	Pathogenic	488353	rs1247392012	10:81930608-81930608	10:80170852-80170852
2	ANXA11	NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg)	SNV	Pathogenic	488354	rs142083484	10:81930615-81930615	10:80170859-80170859
3	ANXA11	NM_145868.2(ANXA11):c.523G>A (p.Gly175Arg)	SNV	Pathogenic	488355	rs754594235	10:81928763-81928763	10:80169007-80169007
4	ANXA11	NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr)	SNV	Likely pathogenic	802593		10:81930609-81930609	10:80170853-80170853

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

⁷³

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

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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

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 23:

UniProtKB/Swiss-Prot 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