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 56 73 29 6
Amytrophic Lateral Sclerosis 23 56 29
Als23 56 73
Amyotrophic Lateral Sclerosis Type 23 12

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:



External Ids:

Disease Ontology 12 DOID:0080225
OMIM 56 617839
OMIM Phenotypic Series 56 PS105400
MeSH 43 D000690
SNOMED-CT via HPO 68 263681008 86044005

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 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:

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

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:

40
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. 56 6
28469040 2017
2
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 6
21914052 2012
3
Amyotrophic Lateral Sclerosis Overview 6
20301623 2001
4
[Proceedings of the Consensus Conference on Amyotrophic Lateral Sclerosis, 23-24 November 2005, Nice, France]. 61
17128083 2006

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

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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