ALS24
MCID: AMY110
MIFTS: 22

Amyotrophic Lateral Sclerosis 24 (ALS24)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 24

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 24:

Name: Amyotrophic Lateral Sclerosis 24 57 74
Amyotrophic Lateral Sclerosis, Susceptibility to, 24 57 29 6
Als24 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset between ages 54 to 75


HPO:

32
amyotrophic lateral sclerosis 24:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D000690

Summaries for Amyotrophic Lateral Sclerosis 24

UniProtKB/Swiss-Prot : 74 Amyotrophic lateral sclerosis 24: 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.

MalaCards based summary : Amyotrophic Lateral Sclerosis 24, is also known as amyotrophic lateral sclerosis, susceptibility to, 24. An important gene associated with Amyotrophic Lateral Sclerosis 24 is NEK1 (NIMA Related Kinase 1). Affiliated tissues include brain, spinal cord and thalamus, and related phenotypes are respiratory insufficiency and dysarthria

More information from OMIM: 617892 PS105400

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 24

Human phenotypes related to Amyotrophic Lateral Sclerosis 24:

32
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 32 very rare (1%) HP:0002093
2 dysarthria 32 HP:0001260
3 dysphagia 32 HP:0002015
4 tetraparesis 32 HP:0002273
5 hippocampal atrophy 32 HP:0410170

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
dysphagia
tetraparesis
upper and lower motor neuron signs
amyotrophic paresis, asymmetric (upper limbs initially)
more
Respiratory:
respiratory insufficiency (in some patients)

Abdomen Gastrointestinal:
dysphagia

Clinical features from OMIM:

617892

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 24

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 24

Genetic Tests for Amyotrophic Lateral Sclerosis 24

Genetic tests related to Amyotrophic Lateral Sclerosis 24:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis, Susceptibility to, 24 29 NEK1

Anatomical Context for Amyotrophic Lateral Sclerosis 24

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 24:

41
Brain, Spinal Cord, Thalamus

Publications for Amyotrophic Lateral Sclerosis 24

Articles related to Amyotrophic Lateral Sclerosis 24:

# Title Authors PMID Year
1
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. 8 71
27455347 2016
2
NEK1 mutations in familial amyotrophic lateral sclerosis. 8 71
26945885 2016
3
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 71
21914052 2012
4
Amyotrophic Lateral Sclerosis Overview 71
20301623 2001

Variations for Amyotrophic Lateral Sclerosis 24

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 24:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NEK1 NM_001199397.2(NEK1): c.3107C> G (p.Ser1036Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199947197 4:170345819-170345819 4:169424668-169424668
2 NEK1 NM_001199397.2(NEK1): c.2434A> T (p.Arg812Ter) single nucleotide variant risk factor rs749428135 4:170398275-170398275 4:169477124-169477124
3 NEK1 NEK1, ARG261HIS undetermined variant risk factor
4 NEK1 NM_001199397.2(NEK1): c.1648C> T (p.Arg550Ter) single nucleotide variant risk factor rs371575563 4:170458977-170458977 4:169537826-169537826
5 NEK1 NM_001199397.2(NEK1): c.1925C> G (p.Ala642Gly) single nucleotide variant Uncertain significance 4:170428270-170428270 4:169507119-169507119

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 24:

74
# Symbol AA change Variation ID SNP ID
1 NEK1 p.Arg261His VAR_080694 rs200161705

Expression for Amyotrophic Lateral Sclerosis 24

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 24.

Pathways for Amyotrophic Lateral Sclerosis 24

GO Terms for Amyotrophic Lateral Sclerosis 24

Sources for Amyotrophic Lateral Sclerosis 24

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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