ALS24
MCID: AMY110
MIFTS: 21

Amyotrophic Lateral Sclerosis 24 (ALS24)

Categories: Genetic diseases, Mental 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 58 76
Amyotrophic Lateral Sclerosis, Susceptibility to, 24 58 6
Als24 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset between ages 54 to 75


Classifications:



External Ids:

OMIM 58 617892
MeSH 45 D000690
MedGen 43 CN842244

Summaries for Amyotrophic Lateral Sclerosis 24

UniProtKB/Swiss-Prot : 76 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 dysarthria and dysphagia

Description from OMIM: 617892

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 24

Human phenotypes related to Amyotrophic Lateral Sclerosis 24:

33
# Description HPO Frequency HPO Source Accession
1 dysarthria 33 HP:0001260
2 dysphagia 33 HP:0002015
3 tetraparesis 33 HP:0002273
4 hippocampal atrophy 33 HP:0410170

Symptoms via clinical synopsis from OMIM:

58
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

Anatomical Context for Amyotrophic Lateral Sclerosis 24

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 24:

42
Brain, Spinal Cord, Thalamus

Publications for Amyotrophic Lateral Sclerosis 24

Articles related to Amyotrophic Lateral Sclerosis 24:

# Title Authors Year
1
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. ( 27455347 )
2016
2
NEK1 mutations in familial amyotrophic lateral sclerosis. ( 26945885 )
2016

Variations for Amyotrophic Lateral Sclerosis 24

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

76
# Symbol AA change Variation ID SNP ID
1 NEK1 p.Arg261His VAR_080694 rs200161705

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 24:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NEK1 NM_001199397.1(NEK1): c.3107C> G (p.Ser1036Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs199947197 GRCh37 Chromosome 4, 170345819: 170345819
2 NEK1 NM_001199397.1(NEK1): c.3107C> G (p.Ser1036Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs199947197 GRCh38 Chromosome 4, 169424668: 169424668
3 NEK1 NM_001199397.1(NEK1): c.2434A> T (p.Arg812Ter) single nucleotide variant risk factor rs749428135 GRCh37 Chromosome 4, 170398275: 170398275
4 NEK1 NM_001199397.1(NEK1): c.2434A> T (p.Arg812Ter) single nucleotide variant risk factor rs749428135 GRCh38 Chromosome 4, 169477124: 169477124
5 NEK1 NEK1, ARG261HIS undetermined variant risk factor
6 NEK1 NM_001199397.1(NEK1): c.1648C> T (p.Arg550Ter) single nucleotide variant risk factor rs371575563 GRCh38 Chromosome 4, 169537826: 169537826
7 NEK1 NM_001199397.1(NEK1): c.1648C> T (p.Arg550Ter) single nucleotide variant risk factor rs371575563 GRCh37 Chromosome 4, 170458977: 170458977
8 NEK1 NM_012224.2(NEK1): c.1841C> G (p.Ala614Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 170428270: 170428270
9 NEK1 NM_012224.2(NEK1): c.1841C> G (p.Ala614Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 169507119: 169507119

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
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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