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

Sources

Aliases & Classifications for Amyotrophic Lateral Sclerosis 23

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 23:

Name: Amyotrophic Lateral Sclerosis 23 ⁵⁷ ⁷⁵ ²⁹ ⁶

Als23 ⁵⁷ ⁷⁵

Amyotrophic Lateral Sclerosis Type 23 ¹²

Amytrophic Lateral Sclerosis 23 ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
average age at onset 67 years

HPO:

³²

amyotrophic lateral sclerosis 23:
Onset and clinical course incomplete penetrance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617839

Disease Ontology ¹² DOID:0080225

MedGen ⁴² CN778765

MeSH ⁴⁴ D000690

SNOMED-CT via HPO ⁶⁹ 86044005

Sources

Summaries for Amyotrophic Lateral Sclerosis 23

UniProtKB/Swiss-Prot : ⁷⁵ 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

Sources

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

Sources

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 23

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Clinical features from OMIM:

617839

Human phenotypes related to Amyotrophic Lateral Sclerosis 23:

³²

#	Description	HPO Frequency	HPO Source Accession
1	amyotrophic lateral sclerosis ³²		HP:0007354

Sources

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 23

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

Sources

Genetic Tests for Amyotrophic Lateral Sclerosis 23

Genetic tests related to Amyotrophic Lateral Sclerosis 23:

#	Genetic test	Affiliating Genes
1	Amyotrophic Lateral Sclerosis 23 ²⁹	ANXA11

Sources

Anatomical Context for Amyotrophic Lateral Sclerosis 23

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 23:

⁴¹

Brain, Spinal Cord

Sources

Publications for Amyotrophic Lateral Sclerosis 23

Sources

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	1328.85	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	28469040

Sources

Variations for Amyotrophic Lateral Sclerosis 23

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

⁷⁵

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

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		GRCh38	Chromosome 10, 80170852: 80170852
2	ANXA11	NM_001157.2(ANXA11): c.119A> G (p.Asp40Gly)	single nucleotide variant	Pathogenic		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

Sources

Expression for Amyotrophic Lateral Sclerosis 23

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

Sources

Pathways for Amyotrophic Lateral Sclerosis 23

Sources

GO Terms for Amyotrophic Lateral Sclerosis 23

Sources

Sources for Amyotrophic Lateral Sclerosis 23

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Amyotrophic Lateral Sclerosis 23:

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

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