ALS24
MCID: AMY110
MIFTS: 15

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 57 75
Amyotrophic Lateral Sclerosis, Susceptibility to, 24 57 6
Als24 57 75

Classifications:



External Ids:

OMIM 57 617892
MedGen 42 CN842244
MeSH 44 D000690

Summaries for Amyotrophic Lateral Sclerosis 24

UniProtKB/Swiss-Prot : 75 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 and spinal cord.

Description from OMIM: 617892

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 24

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:

41
Brain, Spinal Cord

Publications for Amyotrophic Lateral Sclerosis 24

Variations for Amyotrophic Lateral Sclerosis 24

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

75
# Symbol AA change Variation ID SNP ID
1 NEK1 p.Arg261His VAR_080694

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

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 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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