ALS23
MCID: AMY108
MIFTS: 21

Amyotrophic Lateral Sclerosis 23 (ALS23)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 23

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 23:

Name: Amyotrophic Lateral Sclerosis 23 57 74 29 6
Amytrophic Lateral Sclerosis 23 57 29
Als23 57 74
Amyotrophic Lateral Sclerosis Type 23 12

Characteristics:

OMIM:

57
Miscellaneous:
incomplete penetrance
average age at onset 67 years

Inheritance:
autosomal dominant


HPO:

32
amyotrophic lateral sclerosis 23:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080225
MeSH 44 D000690

Summaries for Amyotrophic Lateral Sclerosis 23

UniProtKB/Swiss-Prot : 74 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 amytrophic lateral sclerosis 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

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 23

Human phenotypes related to Amyotrophic Lateral Sclerosis 23:

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

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

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 23

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

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
2 Amytrophic Lateral Sclerosis 23 29

Anatomical Context for Amyotrophic Lateral Sclerosis 23

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 23:

41
Brain, Spinal Cord

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. 8 71
28469040 2017
2
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 71
21914052 2012
3
Amyotrophic Lateral Sclerosis Overview 71
20301623 2001
4
[Proceedings of the Consensus Conference on Amyotrophic Lateral Sclerosis, 23-24 November 2005, Nice, France]. 38
17128083 2006

Variations for Amyotrophic Lateral Sclerosis 23

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 23:

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

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

74
# Symbol AA change Variation ID SNP ID
1 ANXA11 p.Asp40Gly VAR_080654 rs124739201

Expression for Amyotrophic Lateral Sclerosis 23

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

Pathways for Amyotrophic Lateral Sclerosis 23

GO Terms for Amyotrophic Lateral Sclerosis 23

Sources for Amyotrophic Lateral Sclerosis 23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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