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 56 73
Amyotrophic Lateral Sclerosis, Susceptibility to, 24 56 29 6
Als24 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset between ages 54 to 75


HPO:

31
amyotrophic lateral sclerosis 24:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 617892
OMIM Phenotypic Series 56 PS105400
MeSH 43 D000690

Summaries for Amyotrophic Lateral Sclerosis 24

UniProtKB/Swiss-Prot : 73 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 hyperreflexia

More information from OMIM: 617892 PS105400

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 24

Human phenotypes related to Amyotrophic Lateral Sclerosis 24:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 31 very rare (1%) HP:0002093
2 hyperreflexia 31 HP:0001347
3 dysarthria 31 HP:0001260
4 dysphagia 31 HP:0002015
5 tetraparesis 31 HP:0002273
6 hippocampal atrophy 31 HP:0410170

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6
27455347 2016
2
NEK1 mutations in familial amyotrophic lateral sclerosis. 56 6
26945885 2016
3
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 6
21914052 2012
4
Amyotrophic Lateral Sclerosis Overview 6
20301623 2001

Variations for Amyotrophic Lateral Sclerosis 24

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 24:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NEK1 NM_012224.3(NEK1):c.3023C>G (p.Ser1008Ter)SNV Pathogenic/Likely pathogenic 208600 rs199947197 4:170345819-170345819 4:169424668-169424668
2 NEK1 NM_012224.3(NEK1):c.2350A>T (p.Arg784Ter)SNV risk factor 495118 rs749428135 4:170398275-170398275 4:169477124-169477124
3 NEK1 NEK1, ARG261HISundetermined variant risk factor 495119
4 NEK1 NM_012224.3(NEK1):c.1648C>T (p.Arg550Ter)SNV risk factor 495120 rs371575563 4:170458977-170458977 4:169537826-169537826
5 NEK1 NM_012224.3(NEK1):c.1841C>G (p.Ala614Gly)SNV Uncertain significance 578956 rs529024280 4:170428270-170428270 4:169507119-169507119

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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