ALS23
MCID: AMY108
MIFTS: 18

Amyotrophic Lateral Sclerosis 23 (ALS23)

Categories: Genetic diseases, Mental 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 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:



External Ids:

Disease Ontology 12 DOID:0080225
OMIM 58 617839
MeSH 45 D000690
SNOMED-CT via HPO 70 86044005

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

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

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 30

Anatomical Context for Amyotrophic Lateral Sclerosis 23

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 23:

42
Brain, Spinal Cord

Publications for Amyotrophic Lateral Sclerosis 23

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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