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 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:



External Ids:

OMIM 57 617839
Disease Ontology 12 DOID:0080225
MedGen 42 CN778765
MeSH 44 D000690
SNOMED-CT via HPO 69 86044005

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

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

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

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

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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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